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Sample records for dysarthria

  1. Dysarthria

    Science.gov (United States)

    ... eye contact with them before speaking. Give positive feedback for their effort. Outlook (Prognosis) Depending on the ... ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer Support Get email updates Subscribe to RSS Follow ...

  2. An Acoustic Study of the Relationships among Neurologic Disease, Dysarthria Type, and Severity of Dysarthria

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    Kim, Yunjung; Kent, Raymond D.; Weismer, Gary

    2011-01-01

    Purpose: This study examined acoustic predictors of speech intelligibility in speakers with several types of dysarthria secondary to different diseases and conducted classification analysis solely by acoustic measures according to 3 variables (disease, speech severity, and dysarthria type). Method: Speech recordings from 107 speakers with…

  3. Clinical and acoustical variability in hypokinetic dysarthria

    International Nuclear Information System (INIS)

    Metter, E.J.; Hanson, W.R.

    1986-01-01

    Ten male patients with parkinsonism secondary to Parkinson's disease or progressive supranuclear palsy had clinical neurological, speech, and acoustical speech evaluations. In addition, seven of the patients were evaluated by x-ray computed tomography (CT) and (F-18)-fluorodeoxyglucose (FDG) positron emission tomography (PET). Extensive variability of speech features, both clinical and acoustical, were found and seemed to be independent of the severity of any parkinsonian sign, CT, or FDG PET. In addition, little relationship existed between the variability across each measured speech feature. What appeared to be important for the appearance of abnormal acoustic measures was the degree of overall severity of the dysarthria. These observations suggest that a better understanding of hypokinetic dysarthria may result from more extensive examination of the variability between patients. Emphasizing a specific feature such as rapid speaking rate in characterizing hypokinetic dysarthria focuses on a single and inconstant finding in a complex speech pattern

  4. Quantitative Assessment of Interutterance Stability: Application to Dysarthria

    Science.gov (United States)

    Cummins, Fred; Lowit, Anja; van Brenk, Frits

    2014-01-01

    Purpose: Following recent attempts to quantify articulatory impairment in speech, the present study evaluates the usefulness of a novel measure of motor stability to characterize dysarthria. Method: The study included 8 speakers with ataxic dysarthria (AD), 16 speakers with hypokinetic dysarthria (HD) as a result of Parkinson's disease, and…

  5. Vowel Acoustics in Dysarthria: Mapping to Perception

    Science.gov (United States)

    Lansford, Kaitlin L.; Liss, Julie M.

    2014-01-01

    Purpose: The aim of the present report was to explore whether vowel metrics, demonstrated to distinguish dysarthric and healthy speech in a companion article (Lansford & Liss, 2014), are able to predict human perceptual performance. Method: Vowel metrics derived from vowels embedded in phrases produced by 45 speakers with dysarthria were…

  6. FATIGUE AND FAULTY POSTURE CONNECTION AMONG CHILDREN, DIAGNOSED WITH DYSARTHRIA

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    Andrejeva Julija

    2015-08-01

    Full Text Available Purpose : To analyze spastic dysarthria form in children population dependency of fatigue and faulty posture relationship. Methods: Research performed with the permission of the bioethics committee (RE-BK-063. The Dutch Fatigue Scale (DUFS. Posture in standing was assessed by Hoeger and Kendall. Research subjects n=40. n=20 children diagnosed with spastic dysarthria and n=20 of children without dysarthria. Their age was 10±2.1years. Boys were n=20 and girls - n=20.Results were statistically significant at p<0.05. Microsoft Office 2013, Excel package were used to count a research results. Results: For children with dysarthria fatigue level is more significant that for children without dysarthria; results were statistically significant, p<0.05. Posture disorder for children with dysarthria was statistically significant higher than among children without dysarthria, p<0.05. Conclusions: For children with dysarthria fatigue level is higher than for healthy children, thus for the girls fatigue level is higher than for the boys. Spastic form dysarthria has an impact to a child posture, by creating a direct dependency between posture deformation and skeletal muscle system disease, which decreases muscle power and increasing fatigue for a child. To correct faulty posture thus to decrease fatigue the tight collaboration needed between rehabilitation team members.

  7. Fatigue and faulty posture connection among children, diagnosed with dysarthria

    Directory of Open Access Journals (Sweden)

    Julija Andrejeva

    2015-08-01

    Full Text Available Purpose : To analyze spastic dysarthria form in children population dependency of fatigue and faulty posture relationship. Methods: Research performed with the permission of the bioethics committee (RE-BK-063. The Dutch Fatigue Scale (DUFS. Posture in standing was assessed by Hoeger and Kendall. Research subjects n=40. n=20 children diagnosed with spastic dysarthria and n=20 of children without dysarthria. Their age was 10±2.1years. Boys were n=20 and girls - n=20.Results were statistically significant at p<0.05. Microsoft Office 2013, Excel package were used to count a research results. Results: For children with dysarthria fatigue level is more significant that for children without dysarthria; results were statistically significant, p<0.05. Posture disorder for children with dysarthria was statistically significant higher than among children without dysarthria, p<0.05. Conclusions: For children with dysarthria fatigue level is higher than for healthy children, thus for the girls fatigue level is higher than for the boys. Spastic form dysarthria has an impact to a child posture, by creating a direct dependency between posture deformation and skeletal muscle system disease, which decreases muscle power and increasing fatigue for a child. To correct faulty posture thus to decrease fatigue the tight collaboration needed between rehabilitation team members.

  8. Acoustic Predictors of Pediatric Dysarthria in Cerebral Palsy

    Science.gov (United States)

    Allison, Kristen M.; Hustad, Katherine C.

    2018-01-01

    Purpose: The objectives of this study were to identify acoustic characteristics of connected speech that differentiate children with dysarthria secondary to cerebral palsy (CP) from typically developing children and to identify acoustic measures that best detect dysarthria in children with CP. Method: Twenty 5-year-old children with dysarthria…

  9. Analysis of dysarthria in amyotrophic lateral sclerosis

    International Nuclear Information System (INIS)

    Watanabe, Sakae; Arasaki, Keisuke; Nagata, Hiroshi; Shouji, Shinichi.

    1994-01-01

    To evaluate dysarthria in patients with ALS, we used MRI (gradient rephasing echo method) and compared it with the computed acoustic analysis. Five ALS male patients of progressive bulbar palsy type and five normal males were asked to phonate the five Japanese vowels, /a/·/i/·/u/·/e/·/o/. MRI of the sagittal tongue and vocal tract was obtained by the gradient rephasing echo method (0.2 Tesla, TR: 30 ms, TE: 10 ms, FA: 25degC, Hitachi). We could clearly visualized the change of tongue shape and the narrow site of the vocal tract for each vowel phonation. In normal subjects, the tongue shape and the narrow site of the vocal tract were distinguishable between each vowel, but unclear in ALS. Acoustic analysis showed that the first formant frequency of /i/·/u/ in ALS was higher than normal and the second formant frequency of /i/·/e/ in ALS was significantly lower than normal. The discrepancy from the normal first, second and third formant frequency for each vowel of ALS was most seen in /i/·/ e/. It was speculated that /i/ and /e/ were the most disturbed vowels in ALS. The first and second formant frequency of vowel depends on the tongue shape and the width of the oral cavity. Therefore the results of the acoustic analysis in ALS indicated poor movement of tongue in /i/·/u/·/e/ and were compatible with the findings of the sagittal tongue MRI. The sagittal view of the tongue in the gradient rephasing echo MRI and the acoustic analysis are useful in evaluating dysarthria in ALS. (author)

  10. Dysarthria following stroke: the patient's perspective on management and rehabilitation.

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    Brady, Marian C; Clark, Alexander M; Dickson, Sylvia; Paton, Gillian; Barbour, Rosaline S

    2011-10-01

    To explore the perceptions of people with stroke-related dysarthria in relation to the management and rehabilitation of dysarthria. Qualitative semi-structured interviews. Community setting Subjects: Twenty-four people with an acquired dysarthria as a result of a stroke in the previous three years. All were living at home at the time of the interview. None exhibited a co-existing impairment (for example, aphasia, apraxia or cognitive impairment) that might have contributed to their communicative experiences. Participants described the considerable efforts they made to maximize their communicative effectiveness prior to, and during, communicative interactions. Activities described included careful articulation and vocal projection as well as more inconspicuous strategies including pre-planning interactions, focused, effortful speech and word substitution. Communication was facilitated by a range of strategies including drafting, rehearsal, manoeuvring and ongoing monitoring and repair. Self-led speech rehabilitation activities were functionally based and often undertaken regularly. Some novel reading-aloud and speaking-aloud activities were described. The quantity and nature of inconspicuous, internalized, cognitive activities people with dysarthria engage in to maximize their communicative effectiveness should be considered in evaluating the impact of dysarthria following stroke. Focusing upon externally observable characteristics alone is insufficient. Challenging, functionally relevant, patient-focused activities, materials and targets are more likely to be perceived by the patient as relevant and worthwhile and are thus more likely to ensure adherence to recommended rehabilitation activities.

  11. Range and Precision of Formant Movement in Pediatric Dysarthria.

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    Allison, Kristen M; Annear, Lucas; Policicchio, Marisa; Hustad, Katherine C

    2017-07-12

    This study aimed to improve understanding of speech characteristics associated with dysarthria in children with cerebral palsy by analyzing segmental and global formant measures in single-word and sentence contexts. Ten 5-year-old children with cerebral palsy and dysarthria and 10 age-matched, typically developing children participated in this study. Vowel space area and second formant interquartile range were measured from children's elicited productions of single words and sentences. Results showed that the children with dysarthria had significantly smaller vowel space areas than typically developing children in both word and sentence contexts; however, overall ranges of second formant movement did not differ between groups in word or sentence contexts. Additional analysis of single words revealed that, compared to typical children, children with dysarthria had smaller second formant interquartile ranges in single words with phonetic contexts requiring large changes in vocal tract configuration, but not in single words with monophthongs. Results of this study suggest that children with dysarthria may not have globally reduced ranges of articulatory movement compared to typically developing peers; however, they do exhibit reduced precision in producing phonetic targets.

  12. Dystonic Dysarthria in Wilson Disease: Efficacy of Zolpidem

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    Aurélia Poujois

    2017-10-01

    Full Text Available Wilson disease (WD is a rare genetic disorder characterized by copper overload in the liver and the brain. Neurological presentations are mainly related to the accumulation of copper in the basal ganglia, the brainstem, and the cerebellum. Dysarthria is a frequent symptom, with dystonic, spastic, or parkinsonian components and is usually resistant to medical or voice rehabilitation therapies. Here, we report the case of a patient with WD diagnosed at the age of 12, who presented a severe and constant dysarthria from dystonic origin which was unresponsive to benzodiazepines and anticholinergic drugs. When she was 25-year-old, she tried zolpidem at bedtime for sleeping difficulties and reported a paradoxical effect of this drug on her voice. To confirm the effect of zolpidem on her dystonic dysarthria, we realized a full evaluation of her dysarthria at baseline without zolpidem and after 4 days of treatment by 10 mg twice a day. Lexical access was evaluated by the semantic fluency; dysarthria by the Intelligibility Score, the spontaneous speech and reading rates, the maximum phonation time on the sustained vowel [a] and by a perceptive evaluation. Two hours after the intake of zolpidem, improvement of all the parameters tested, with the exception of the maximum phonation time, was observed. Semantic fluency increased by 59%, the spontaneous speech rate by 88% and the reading rate by 76%. General dystonia remained unchanged and the tolerance of zolpidem was satisfactory. Since then, the patient takes zolpidem 5 mg five times a day, and 4 years later shows persistent improvement in oral communication and a good drug tolerance. In this single-case study, we showed that regular daytime intake of zolpidem could have a persisting effect on a complex dystonic dysarthria that was resistant to usual medical treatments.

  13. Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

    NARCIS (Netherlands)

    Knuijt, Simone; Kalf, Johanna G.; de Swart, Bert J. M.; Drost, Gea; Hendricks, Henk T.; Geurts, Alexander C. H.; van Engelen, Baziel G. M.

    2014-01-01

    Purpose: Patients with a neuromuscular disease (NMD) can present with dysarthria and/or dysphagia. Literature regarding prevalence rates of dysarthria and dysphagia is scarce. The purpose of this study was to determine prevalence rates, severity and co-presence of dysarthria and dysphagia in adult

  14. Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

    NARCIS (Netherlands)

    Knuijt, S.; Kalf, J.G.; Swart, B.J. de; Drost, G.; Hendricks, H.T.; Geurts, A.C.; Engelen, B.G.M. van

    2014-01-01

    PURPOSE: Patients with a neuromuscular disease (NMD) can present with dysarthria and/or dysphagia. Literature regarding prevalence rates of dysarthria and dysphagia is scarce. The purpose of this study was to determine prevalence rates, severity and co-presence of dysarthria and dysphagia in adult

  15. Predicting Intelligibility Gains in Dysarthria through Automated Speech Feature Analysis

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    Fletcher, Annalise R.; Wisler, Alan A.; McAuliffe, Megan J.; Lansford, Kaitlin L.; Liss, Julie M.

    2017-01-01

    Purpose: Behavioral speech modifications have variable effects on the intelligibility of speakers with dysarthria. In the companion article, a significant relationship was found between measures of speakers' baseline speech and their intelligibility gains following cues to speak louder and reduce rate (Fletcher, McAuliffe, Lansford, Sinex, &…

  16. Dysarthria of Motor Neuron Disease: Clinician Judgments of Severity.

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    Seikel, J. Anthony; And Others

    1990-01-01

    This study investigated the relationship between the temporal-acoustic parameters of the speech of 15 adults with motor neuron disease. Differences in predictions of the progression of the disease and clinician judgments of dysarthria severity were found to relate to the linguistic systems of both speaker and judge. (Author/JDD)

  17. Inducing Speech Errors in Dysarthria Using Tongue Twisters

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    Kember, Heather; Connaghan, Kathryn; Patel, Rupal

    2017-01-01

    Although tongue twisters have been widely use to study speech production in healthy speakers, few studies have employed this methodology for individuals with speech impairment. The present study compared tongue twister errors produced by adults with dysarthria and age-matched healthy controls. Eight speakers (four female, four male; mean age =…

  18. The impact of stroke-related dysarthria on social participation and implications for rehabilitation.

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    Brady, Marian C; Clark, Alexander M; Dickson, Sylvia; Paton, Gillian; Barbour, Rosaline S

    2011-01-01

    Each year an estimated 30,000-45,000 UK individuals experience stroke-related dysarthria (impairment of movements required to produce speech). Many will experience persistent dysarthria long after discharge from stroke services. Although we have some insight into the impact of other communication impairments, we have very limited information on the impact of dysarthria on social participation. To explore the impact of dysarthria on social participation following stroke. We report data from in-depth semi-structured interviews with 24 individuals with stroke-related dysarthria. Our findings suggest a complex association between the severity of an individual's dysarthria and the impact on their social participation. Participants' descriptions highlighted their experiences of social participation and isolation. We further suggest that, in some cases, the coping strategies adopted by the participants could be seen to further exacerbate this isolation. These results have important implications for the prioritisation, planning and delivery of therapeutic interventions for people with dysarthria. The impact of stroke-related dysarthria transcends the physiological impairment to impact upon individuals' social participation, which is key to the process of rehabilitation. The development and evaluation of the effectiveness of an intervention that addresses these impacts is the next challenge for therapists and researchers working in this area.

  19. Dysarthria in Adults with Cerebral Palsy: Clinical Presentation and Impacts on Communication

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    Schölderle, Theresa; Staiger, Anja; Lampe, Renée; Strecker, Katrin; Ziegler, Wolfram

    2016-01-01

    Purpose: Although dysarthria affects the large majority of individuals with cerebral palsy (CP) and can substantially complicate everyday communication, previous research has provided an incomplete picture of its clinical features. We aimed to comprehensively describe characteristics of dysarthria in adults with CP and to elucidate the impact of…

  20. Therapeutic Intervention in a Case of Ataxic Dysarthria Associated with a History of Amateur Boxing

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    McMicken, Betty L.; Ostergren, Jennifer A.; Vento-Wilson, Margaret

    2011-01-01

    The goals of this study were to (a) describe the presenting features of ataxic dysarthria present in a participant with a long history of amateur boxing, (b) describe a novel application of behavioral principles in the treatment of this participant, and (c) discuss implications in the treatment of ataxic dysarthria secondary to boxing. The…

  1. Gauging the Auditory Dimensions of Dysarthric Impairment: Reliability and Construct Validity of the Bogenhausen Dysarthria Scales (BoDyS)

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    Ziegler, Wolfram; Staiger, Anja; Schölderle, Theresa; Vogel, Mathias

    2017-01-01

    Purpose: Standardized clinical assessment of dysarthria is essential for management and research. We present a new, fully standardized dysarthria assessment, the Bogenhausen Dysarthria Scales (BoDyS). The measurement model of the BoDyS is based on auditory evaluations of connected speech using 9 scales (traits) assessed by 4 elicitation methods.…

  2. Dysarthria and quality of life in patients with amyotrophic lateral sclerosis

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    Lavoisier Leite Neto

    Full Text Available ABSTRACT Purpose: to analyze the impact of dysarthria on the quality of life in patients with amyotrophic lateral sclerosis. Methods: the study consisted of 32 subjects, divided into two groups (control group and study group who underwent an initial interview for background information, followed by an evaluation based on the Dysarthria Assessment Protocol and completion of quality of life questionnaire "Living with Dysarthria - (LwD". Exploratory data analysis was collected through mean, median, SD, minimum and maximum measures. A comparison was performed between the studied groups and a correlation was carried out between scores. The significance level adopted was 5%. Results: according to the findings, all sub-items analyzed by the dysarthria assessment protocol were statically significant (p <0.001 when comparing the groups. Regarding quality of life, a moderate positive correlation (p = 0.0008; Spearman's coefficient = 0.75202 was observed between the total score of the two protocols used, indicating that the higher the degree of dysarthria, the worse the Quality of Life (QOL of the subject, according to the parameters evaluated. Conclusion: dysarthria affects all speech parameters herein assessed, in varying degrees, negatively impacting communication and quality of life.

  3. Sentence stress in children with dysarthria and cerebral palsy.

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    Kuschmann, Anja; Lowit, Anja

    2018-03-08

    This study aimed to advance our understanding of how children with dysarthria and cerebral palsy (CP) realise sentence stress acoustically, and how well listeners could identify the position of the stressed word within these utterances. Seven children with CP and eight typically developing children participated in the experiment. Stress on target words in two sentence positions was elicited through a picture-based question-answer paradigm. Acoustic parameters of stress [duration, intensity and fundamental frequency (F0)] were measured and compared between stressed and unstressed target words. For the perception experiment, ten listeners were asked to determine the position of the stressed word in the children's productions. Acoustic measures showed that at group level the typically developing children used all three acoustic parameters to mark sentence stress, whereas the children with CP showed changes in duration only. Individual performance variations were evident in both groups. Perceptually, listeners were significantly better at identifying the stressed words in the utterances produced by the typically developing children than those of the children with CP. The results suggest that children with CP can manipulate temporal speech properties to mark stress. This ability to modulate acoustic-prosodic features could be harnessed in intervention to enhance children's functional communication.

  4. Cognitive-perceptual examination of remediation approaches to hypokinetic dysarthria.

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    McAuliffe, Megan J; Kerr, Sarah E; Gibson, Elizabeth M R; Anderson, Tim; LaShell, Patrick J

    2014-08-01

    To determine how increased vocal loudness and reduced speech rate affect listeners' cognitive-perceptual processing of hypokinetic dysarthric speech associated with Parkinson's disease. Fifty-one healthy listener participants completed a speech perception experiment. Listeners repeated phrases produced by 5 individuals with dysarthria across habitual, loud, and slow speaking modes. Listeners were allocated to habitual ( n = 17), loud ( n = 17), or slow ( n = 17) experimental conditions. Transcripts derived from the phrase repetition task were coded for overall accuracy (i.e., intelligibility), and perceptual error analyses examined how these conditions affected listeners' phonemic mapping (i.e., syllable resemblance) and lexical segmentation (i.e., lexical boundary error analysis). Both speech conditions provided obvious perceptual benefits to listeners. Overall, transcript accuracy was highest in the slow condition. In the loud condition, however, improvement was evidenced across the experiment. An error analysis suggested that listeners in the loud condition prioritized acoustic-phonetic cues in their attempts to resolve the degraded signal, whereas those in the slow condition appeared to preferentially weight lexical stress cues. Increased loudness and reduced rate exhibited differential effects on listeners' perceptual processing of dysarthric speech. The current study highlights the insights that may be gained from a cognitive-perceptual approach.

  5. Regional cerebral blood flow in pure dysarthria. A 3D-SSP study

    International Nuclear Information System (INIS)

    Okamoto, Kensho; Kamogawa, Kenji; Okuda, Bungo; Kawabata, Keita; Tachibana, Hisao

    2007-01-01

    Pure dysarthria from brain infarction is a rare condition, and its pathophysiology remains unclear. To clarify the underlying mechanism of pure dysarthria, we investigated the lesion sites and regional cerebral blood flow in patients with pure dysarthria. We examined 18 consecutive patients with pure dysarthria (9 men and 9 women; mean age, 71 years) who underwent MRI and cerebral blood flow studies. To visualize the regional cerebral blood flow, we generated Z score images using the three-dimensional stereotactic surface projection (3D-SSP) method with single-photon emission computed tomography (SPECT) and N-isopropyl-p [ 123 I]iodoamphetamine. Data on the brain surface perfusion extracted by the 3D-SSP analysis were compared between the pure dysarthria (PD) patients and 9 control subjects. MRI revealed multiple lacunar infarctions involving the internal capsule and/or corona radiata in 11 patients, left internal capsule-corona radiata infarction in 4 patients, and pontine infarction in 3 patients. SPECT with 3D-SSP demonstrated bilateral frontal cortical hypoperfusion in all patients, particularly in the anterior opercular region. Based on intergroup comparisons, the PD group exhibited pronounced cortical hypoperfusion in the opercular and medial frontal regions, left more than right. In conclusion, pure dysarthria is considered to originate from frontal cortical hypoperfusion, mainly in the anterior opercular and medial frontal regions, which is probably due to interruption of the corticosubcortical neural networks relevant to speech expression and articulation. In addition, it is suggested that left hemispheric lesions may make a greater contribution to the development of pure dysarthria than do right ones. (author)

  6. Perceptual and acoustic analysis of lexical stress in Greek speakers with dysarthria.

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    Papakyritsis, Ioannis; Müller, Nicole

    2014-01-01

    The study reported in this paper investigated the abilities of Greek speakers with dysarthria to signal lexical stress at the single word level. Three speakers with dysarthria and two unimpaired control participants were recorded completing a repetition task of a list of words consisting of minimal pairs of Greek disyllabic words contrasted by lexical stress location only. Fourteen listeners were asked to determine the attempted stress location for each word pair. Acoustic analyses of duration and intensity ratios, both within and across words, were undertaken to identify possible acoustic correlates of the listeners' judgments concerning stress location. Acoustic and perceptual data indicate that while each participant with dysarthria in this study had some difficulty in signaling stress unambiguously, the pattern of difficulty was different for each speaker. Further, it was found that the relationship between the listeners' judgments of stress location and the acoustic data was not conclusive.

  7. Use of listening strategies for the speech of individuals with dysarthria and cerebral palsy.

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    Hustad, Katherine C; Dardis, Caitlin M; Kramper, Amy J

    2011-03-01

    This study examined listeners' endorsement of cognitive, linguistic, segmental, and suprasegmental strategies employed when listening to speakers with dysarthria. The study also examined whether strategy endorsement differed between listeners who earned the highest and lowest intelligibility scores. Speakers were eight individuals with dysarthria and cerebral palsy. Listeners were 80 individuals who transcribed speech stimuli and rated their use of each of 24 listening strategies on a 4-point scale. Results showed that cognitive and linguistic strategies were most highly endorsed. Use of listening strategies did not differ between listeners with the highest and lowest intelligibility scores. Results suggest that there may be a core of strategies common to listeners of speakers with dysarthria that may be supplemented by additional strategies, based on characteristics of the speaker and speech signal.

  8. A Survey of Speech-Language Therapy Provision for People with Post-Stroke Dysarthria in the UK

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    Miller, Nick; Bloch, Steven

    2017-01-01

    Background: A large number of people who experience a stroke are affected by dysarthria. This may be in isolation or in association with aphasia and/or dysphagia. Despite evidence highlighting the psychological and social impact of having post-stroke dysarthria and a number of clinical guidelines that make recommendations for appropriate…

  9. Psychosocial impact of Parkinson's disease-associated dysarthria: Cross-cultural adaptation and validation of the Dysarthria Impact Profile into European Portuguese.

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    Cardoso, Rita; Guimarães, Isabel; Santos, Helena; Loureiro, Rita; Domingos, Josefa; Abreu, Daisy; Gonçalves, Nilza; Pinto, Serge; Ferreira, Joaquim J

    2018-01-26

    The present study sought to make a cross-cultural adaptation of the Dysarthria Impact Profile (DIP) for European Portuguese (EP) and validate it for use in Parkinson's disease (PD) patients. The cross-cultural adaptation was carried out in accordance with the guidelines. The EP version of the DIP was administered to 80 people with PD, and 30 sex- and age-matched control participants. Psychometric properties, acceptability, feasibility reliability (internal consistency and intrarater agreement) and validity (construct, convergent and known-groups validity) were assessed using other assessment tools (motor disability and impairment, and voice impact). Overall, the EP-DIP final version has the same conceptual meaning, semantics, idiomatic and score equivalences as the original version. Statistical analyses showed adequate feasibility (missing data psychosocial impact of slight-to-mild dysarthria in people with PD. Geriatr Gerontol Int 2018; ••: ••-••. © 2018 Japan Geriatrics Society.

  10. Telediagnostic Assessment of Intelligibility in Dysarthria: A Pilot Investigation of MVP-Online

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    Ziegler, Wolfram; Zierdt, Andreas

    2008-01-01

    Background: A most important index of functional impairment in dysarthria is "intelligibility". The "Munich Intelligibility Profile" (MVP) is a computer-based method for the assessment of the intelligibility of dysarthric patients. A multi-user online version of MVP is now available. Aims: To describe the structure of…

  11. Corticobulbar tract changes as predictors of dysarthria in childhood brain injury.

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    Liégeois, Frédérique; Tournier, Jacques-Donald; Pigdon, Lauren; Connelly, Alan; Morgan, Angela T

    2013-03-05

    To identify corticobulbar tract changes that may predict chronic dysarthria in young people who have sustained a traumatic brain injury (TBI) in childhood using diffusion MRI tractography. We collected diffusion-weighted MRI data from 49 participants. We compared 17 young people (mean age 17 years, 10 months; on average 8 years postinjury) with chronic dysarthria who sustained a TBI in childhood (range 3-16 years) with 2 control groups matched for age and sex: 1 group of young people who sustained a traumatic injury but had no subsequent dysarthria (n = 15), and 1 group of typically developing individuals (n = 17). We performed tractography from spherical seed regions within the precentral gyrus white matter to track: 1) the hand-related corticospinal tract; 2) the dorsal corticobulbar tract, thought to correspond to the lips/larynx motor representation; and 3) the ventral corticobulbar tract, corresponding to the tongue representation. Despite widespread white matter damage, radial (perpendicular) diffusivity within the left dorsal corticobulbar tract was the best predictor of the presence of dysarthria after TBI. Diffusion metrics in this tract also predicted speech and oromotor performance across the whole group of TBI participants, with additional significant contributions from ventral speech tract volume in the right hemisphere. An intact left dorsal corticobulbar tract seems crucial to the normal execution of speech long term after acquired injury. Examining the speech-related motor pathways using diffusion-weighted MRI tractography offers a promising prognostic tool for people with acquired, developmental, or degenerative neurologic conditions likely to affect speech.

  12. Classifications of Vocalic Segments from Articulatory Kinematics: Healthy Controls and Speakers with Dysarthria

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    Yunusova, Yana; Weismer, Gary G.; Lindstrom, Mary J.

    2011-01-01

    Purpose: In this study, the authors classified vocalic segments produced by control speakers (C) and speakers with dysarthria due to amyotrophic lateral sclerosis (ALS) or Parkinson's disease (PD); classification was based on movement measures. The researchers asked the following questions: (a) Can vowels be classified on the basis of selected…

  13. Articulatory Movements during Vowels in Speakers with Dysarthria and Healthy Controls

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    Yunusova, Yana; Weismer, Gary; Westbury, John R.; Lindstrom, Mary J.

    2008-01-01

    Purpose: This study compared movement characteristics of markers attached to the jaw, lower lip, tongue blade, and dorsum during production of selected English vowels by normal speakers and speakers with dysarthria due to amyotrophic lateral sclerosis (ALS) or Parkinson disease (PD). The study asked the following questions: (a) Are movement…

  14. Acoustic Characteristics of the Question-Statement Contrast in Severe Dysarthria Due to Cerebral Palsy

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    Patel, Rupal

    2003-01-01

    Studies of prosodic control in severe dysarthria (DYS) have focused on differences between impaired and nonimpaired speech in terms of the range and variation of fundamental frequency (F0), intensity, and duration. Whether individuals with severe DYS can adequately signal prosodic contrasts and "which" acoustic cues they use to do so has received…

  15. The Impact of Contrastive Stress on Vowel Acoustics and Intelligibility in Dysarthria

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    Connaghan, Kathryn P.; Patel, Rupal

    2017-01-01

    Purpose: To compare vowel acoustics and intelligibility in words produced with and without contrastive stress by speakers with spastic (mixed-spastic) dysarthria secondary to cerebral palsy (DYS[subscript CP]) and healthy controls (HCs). Method: Fifteen participants (9 men, 6 women; age M = 42 years) with DYS[subscript CP] and 15 HCs (9 men, 6…

  16. Pneumophonic coordination impairments in parkinsonian dysarthria: importance of aerodynamic parameters measurements.

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    Moustapha, S M; Alain, G; Robert, E; Bernard, T; Mourtalla, Kâ M; Lamine, G; François, V

    2012-01-01

    Among Parkinsonian axial signs, dysarthria represents an important disabling symptom able to lead towards a significant reduction of oral communication. Several methods of dysarthria assessment have been used but aerodynamic evaluation is rare in the literature. To highlight the importance of aerodynamic parameters measurements in assessment of parkinsonian dysarthria. Using a dedicated system (EVA2), 24 parkinsonian patients were recorded after withdrawal of L-dopa for at least 12 h (condition called OFF DOPA) in order to evaluate intra-oral pressure (IOP), mean oral air flow (MOAF) and laryngeal resistance (LR) on six /p/ during realization of the sentence "Papa ne m'a pas parle' de beau-papa" ("Daddy did not speak to me about daddy-in-law") which corresponds to a breath group. 50 control subjects were recorded in parallel in order to define reference measurements. It appeared that there is in Parkinson's disease aerodynamic impairments which were evidenced by the fall in IOP and that of MOAF in patients compared with control subjects. The difference between the two groups was statistically significant. In addition a greater instability of LR in patients compared with control subjects was also noted. Our results show that measurements of aerodynamics parameters, by reflecting the dysfunction induced by disease, may well be relevant factors in parkinsonian dysarthria evaluation.

  17. Intonation Contrast in Cantonese Speakers with Hypokinetic Dysarthria Associated with Parkinson's Disease

    Science.gov (United States)

    Ma, Joan K.-Y.; Whitehill, Tara L.; So, Susanne Y.-S.

    2010-01-01

    Purpose: Speech produced by individuals with hypokinetic dysarthria associated with Parkinson's disease (PD) is characterized by a number of features including impaired speech prosody. The purpose of this study was to investigate intonation contrasts produced by this group of speakers. Method: Speech materials with a question-statement contrast…

  18. Treating dysarthria following traumatic brain injury: investigating the benefits of commencing treatment during post-traumatic amnesia in two participants.

    Science.gov (United States)

    McGhee, Hannah; Cornwell, Petrea; Addis, Paula; Jarman, Carly

    2006-11-01

    The aims of this preliminary study were to explore the suitability for and benefits of commencing dysarthria treatment for people with traumatic brain injury (TBI) while in post-traumatic amnesia (PTA). It was hypothesized that behaviours in PTA don't preclude participation and dysarthria characteristics would improve post-treatment. A series of comprehensive case analyses. Two participants with severe TBI received dysarthria treatment focused on motor speech deficits until emergence from PTA. A checklist of neurobehavioural sequelae of TBI was rated during therapy and perceptual and motor speech assessments were administered before and after therapy. Results revealed that certain behaviours affected the quality of therapy but didn't preclude the provision of therapy. Treatment resulted in physiological improvements in some speech sub-systems for both participants, with varying functional speech outcomes. These findings suggest that dysarthria treatment can begin and provide short-term benefits to speech production during the late stages of PTA post-TBI.

  19. Tumour type and size are high risk factors for the syndrome of "cerebellar" mutism and subsequent dysarthria

    NARCIS (Netherlands)

    C.E. Catsman-Berrevoets (Coriene); H.R. van Dongen (Hugo); D. Paz y Geuze (Daniel); P.F. Paquier; M.H. Lequin (Maarten); P.G.H. Mulder (Paul)

    1999-01-01

    textabstractOBJECTIVE: "Cerebellar mutis" and subsequent dysarthria (MSD) is a documented complication of posterior fossa surgery in children. In this prospective study the following risk factors for MSD were assessed: type, size and site of the tumour; hydrocephalus at

  20. An evaluation of electropalatograpby in the treatment of dysarthria following paediatric traumatic brain injury: A case study

    OpenAIRE

    Occomore, L.

    2006-01-01

    Introduction: Dysarthria is a motor speech disorder commonly associated with Traumatic Brain Injury (TBI). TBI is a substantial cause of acquired brain injury in the paediatric population, with dysarthria being a common, and often persistent, consequence of such injuries, affecting a child's ability to participate fully in a variety of functional contexts. A current lack of literature studying the efficacy of using objective, instrumental techniques in the treatment of this client group forms...

  1. The impact of rate reduction and increased loudness on fundamental frequency characteristics in dysarthria.

    Science.gov (United States)

    Tjaden, Kris; Wilding, Greg

    2011-01-01

    This study examined the extent to which articulatory rate reduction and increased loudness were associated with adjustments in utterance-level measures of fundamental frequency (F(0)) variability for speakers with dysarthria and healthy controls that have been shown to impact on intelligibility in previously published studies. More generally, the current study sought to compare and contrast how a slower-than-normal rate and increased vocal loudness impact on a variety of utterance-level F(0) characteristics for speakers with dysarthria and healthy controls. Eleven speakers with Parkinson's disease, 15 speakers with multiple sclerosis, and 14 healthy control speakers were audio recorded while reading a passage in habitual, loud, and slow conditions. Magnitude production was used to elicit variations in rate and loudness. Acoustic measures of duration, intensity and F(0) were obtained. For all speaker groups, a slower-than-normal articulatory rate and increased vocal loudness had distinct effects on F(0) relative to the habitual condition, including a tendency for measures of F(0) variation to be greater in the loud condition and reduced in the slow condition. These results suggest implications for the treatment of dysarthria. Copyright © 2010 S. Karger AG, Basel.

  2. A speech-controlled environmental control system for people with severe dysarthria.

    Science.gov (United States)

    Hawley, Mark S; Enderby, Pam; Green, Phil; Cunningham, Stuart; Brownsell, Simon; Carmichael, James; Parker, Mark; Hatzis, Athanassios; O'Neill, Peter; Palmer, Rebecca

    2007-06-01

    Automatic speech recognition (ASR) can provide a rapid means of controlling electronic assistive technology. Off-the-shelf ASR systems function poorly for users with severe dysarthria because of the increased variability of their articulations. We have developed a limited vocabulary speaker dependent speech recognition application which has greater tolerance to variability of speech, coupled with a computerised training package which assists dysarthric speakers to improve the consistency of their vocalisations and provides more data for recogniser training. These applications, and their implementation as the interface for a speech-controlled environmental control system (ECS), are described. The results of field trials to evaluate the training program and the speech-controlled ECS are presented. The user-training phase increased the recognition rate from 88.5% to 95.4% (p<0.001). Recognition rates were good for people with even the most severe dysarthria in everyday usage in the home (mean word recognition rate 86.9%). Speech-controlled ECS were less accurate (mean task completion accuracy 78.6% versus 94.8%) but were faster to use than switch-scanning systems, even taking into account the need to repeat unsuccessful operations (mean task completion time 7.7s versus 16.9s, p<0.001). It is concluded that a speech-controlled ECS is a viable alternative to switch-scanning systems for some people with severe dysarthria and would lead, in many cases, to more efficient control of the home.

  3. Effect of visual biofeedback of posterior tongue movement on articulation rehabilitation in dysarthria patients.

    Science.gov (United States)

    Yano, J; Shirahige, C; Oki, K; Oisaka, N; Kumakura, I; Tsubahara, A; Minagi, S

    2015-08-01

    Articulation is driven by various combinations of movements of the lip, tongue, soft palate, pharynx and larynx, where the tongue plays an especially important role. In patients with cerebrovascular disorder, lingual motor function is often affected, causing dysarthria. We aimed to evaluate the effect of visual biofeedback of posterior tongue movement on articulation rehabilitation in dysarthria patients with cerebrovascular disorder. Fifteen dysarthria patients (10 men and 5 women; mean age, 70.7 ± 10.3 years) agreed to participate in this study. A device for measuring the movement of the posterior part of the tongue was used for the visual biofeedback. Subjects were instructed to produce repetitive articulation of [ka] as fast and steadily as possible between a lungful with/without visual biofeedback. For both the unaffected and affected sides, the range of ascending and descending movement of the posterior tongue with visual biofeedback was significantly larger than that without visual biofeedback. The coefficient of variation for these movements with visual biofeedback was significantly smaller than that without visual biofeedback. With visual biofeedback, the range of ascent exhibited a significant and strong correlation with that of descent for both the unaffected and affected sides. The results of this study revealed that the use of visual biofeedback leads to prompt and preferable change in the movement of the posterior part of the tongue. From the standpoint of pursuing necessary rehabilitation for patients with attention and memory disorders, visualization of tongue movement would be of marked clinical benefit. © 2015 John Wiley & Sons Ltd.

  4. Incidence and clinical presentation of dysarthria and dysphagia in the acute setting following paediatric traumatic brain injury.

    Science.gov (United States)

    Morgan, A T; Mageandran, S-D; Mei, C

    2010-01-01

    A lack of data on dysarthria and dysphagia outcomes for children following traumatic brain injury (TBI) limits our clinical evidence base, and poses daily challenges for the speech language pathologist (SLP) managing this group. The present study aimed to examine dysarthria and dysphagia incidence and the clinical presentation of children with these disorders in the acute phase following TBI. Incidence and characteristics were determined via a comprehensive retrospective medical chart review of children consecutively referred to a tertiary paediatric hospital over an 8-year period. Cases (n= 22 dysarthria, n= 72 dysphagia) and matched controls were compared across ancillary variables (e.g. age, severity of TBI, motor impairment). Incidence across the entire cohort was low [i.e. dysarthria (1.2%, 22/1895), dysphagia (3.8%, 72/1895)], but was markedly higher for the sub-category of children with severe TBI [e.g. dysphagia (76%, 63/83)]. Speech deficits were reported across respiration, phonation, resonance, articulation and prosody. Swallowing deficits included reduced lip closure, delayed swallow initiation, wet voice and coughing. Language and swallowing deficits were often co-morbid with dysarthria. Motor impairment was frequently co-morbid with both dysarthria and dysphagia. Cases had longer periods of hospitalization, ventilation and supplementary feeding compared with controls. Despite the low incidence of dysarthria and dysphagia across the entire TBI cohort, this sub-group may place longer-term burden on SLP services, having prolonged periods of ventilation, extended periods of hospitalization and a complex co-morbid clinical presentation compared with controls. The prevalence of co-morbid communication and swallowing impairments suggests a need for integrated rather than single discipline (i.e. dysphagia stream only) SLP services.

  5. Wake-Up Right-Sided Hemiparesis and Dysarthria in a Heavy Snorer.

    Science.gov (United States)

    Brunetti, Valerio; Ferilli, Michela Ada Noris; Vollono, Catello; Di Franco, Antonino; Della Marca, Giacomo

    2018-01-01

    A 57-year-old man was referred to the ED for wake-up right-sided hemiparesis, hypoesthesia, dysarthria, and a National Institutes of Health Stroke Scale score of 7. Urgent CT brain scanning showed an ischemic lesion of the left temporal and insular lobes. The patient was admitted to the stroke unit, and acetylsalicylic acid 300 mg and low-molecular-weight heparin 6,000 IU were administered. Copyright © 2017 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  6. Interventions for dysarthria due to stroke and other adult-acquired, non-progressive brain injury.

    Science.gov (United States)

    Mitchell, Claire; Bowen, Audrey; Tyson, Sarah; Butterfint, Zoe; Conroy, Paul

    2017-01-25

    Dysarthria is an acquired speech disorder following neurological injury that reduces intelligibility of speech due to weak, imprecise, slow and/or unco-ordinated muscle control. The impact of dysarthria goes beyond communication and affects psychosocial functioning. This is an update of a review previously published in 2005. The scope has been broadened to include additional interventions, and the title amended accordingly. To assess the effects of interventions to improve dysarthric speech following stroke and other non-progressive adult-acquired brain injury such as trauma, infection, tumour and surgery. We searched the Cochrane Stroke Group Trials Register (May 2016), CENTRAL (Cochrane Library 2016, Issue 4), MEDLINE, Embase, and CINAHL on 6 May 2016. We also searched Linguistics and Language Behavioral Abstracts (LLBA) (1976 to November 2016) and PsycINFO (1800 to September 2016). To identify further published, unpublished and ongoing trials, we searched major trials registers: WHO ICTRP, the ISRCTN registry, and ClinicalTrials.gov. We also handsearched the reference lists of relevant articles and contacted academic institutions and other researchers regarding other published, unpublished or ongoing trials. We did not impose any language restrictions. We selected randomised controlled trials (RCTs) comparing dysarthria interventions with 1) no intervention, 2) another intervention for dysarthria (this intervention may differ in methodology, timing of delivery, duration, frequency or theory), or 3) an attention control. Three review authors selected trials for inclusion, extracted data, and assessed risk of bias. We attempted to contact study authors for clarification and missing data as required. We calculated standardised mean difference (SMD) and 95% confidence interval (CI), using a random-effects model, and performed sensitivity analyses to assess the influence of methodological quality. We planned to conduct subgroup analyses for underlying clinical

  7. Dysarthria - care

    Science.gov (United States)

    ... eye contact with them before speaking. Give positive feedback for their effort. Ask questions in a way ... ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer Support Get email updates Subscribe to RSS Follow ...

  8. Acoustic Changes in the Speech of Children with Cerebral Palsy Following an Intensive Program of Dysarthria Therapy

    Science.gov (United States)

    Pennington, Lindsay; Lombardo, Eftychia; Steen, Nick; Miller, Nick

    2018-01-01

    Background: The speech intelligibility of children with dysarthria and cerebral palsy has been observed to increase following therapy focusing on respiration and phonation. Aims: To determine if speech intelligibility change following intervention is associated with change in acoustic measures of voice. Methods & Procedures: We recorded 16…

  9. Study of accent-based music speech protocol development for improving voice problems in stroke patients with mixed dysarthria.

    Science.gov (United States)

    Kim, Soo Ji; Jo, Uiri

    2013-01-01

    Based on the anatomical and functional commonality between singing and speech, various types of musical elements have been employed in music therapy research for speech rehabilitation. This study was to develop an accent-based music speech protocol to address voice problems of stroke patients with mixed dysarthria. Subjects were 6 stroke patients with mixed dysarthria and they received individual music therapy sessions. Each session was conducted for 30 minutes and 12 sessions including pre- and post-test were administered for each patient. For examining the protocol efficacy, the measures of maximum phonation time (MPT), fundamental frequency (F0), average intensity (dB), jitter, shimmer, noise to harmonics ratio (NHR), and diadochokinesis (DDK) were compared between pre and post-test and analyzed with a paired sample t-test. The results showed that the measures of MPT, F0, dB, and sequential motion rates (SMR) were significantly increased after administering the protocol. Also, there were statistically significant differences in the measures of shimmer, and alternating motion rates (AMR) of the syllable /K$\\inve$/ between pre- and post-test. The results indicated that the accent-based music speech protocol may improve speech motor coordination including respiration, phonation, articulation, resonance, and prosody of patients with dysarthria. This suggests the possibility of utilizing the music speech protocol to maximize immediate treatment effects in the course of a long-term treatment for patients with dysarthria.

  10. Role of Cerebellum in Fine Speech Control in Childhood: Persistent Dysarthria after Surgical Treatment for Posterior Fossa Tumour

    Science.gov (United States)

    Morgan, A. T.; Liegeois, F.; Liederkerke, C.; Vogel, A. P.; Hayward, R.; Harkness, W.; Chong, K.; Vargha-Khadem, F.

    2011-01-01

    Dysarthria following surgical resection of childhood posterior fossa tumour (PFT) is most commonly documented in a select group of participants with mutism in the acute recovery phase, thus limiting knowledge of post-operative prognosis for this population of children as a whole. Here we report on the speech characteristics of 13 cases seen…

  11. Management of non-progressive dysarthria: practice patterns of speech and language therapists in the Republic of Ireland.

    Science.gov (United States)

    Conway, Aifric; Walshe, Margaret

    2015-01-01

    Dysarthria is a commonly acquired speech disorder. Rising numbers of people surviving stroke and traumatic brain injury (TBI) mean the numbers of people with non-progressive dysarthria are likely to increase, with increased challenges for speech and language therapists (SLTs), service providers and key stakeholders. The evidence base for assessment and intervention approaches with this population remains limited with clinical guidelines relying largely on clinical experience, expert opinion and limited research. Furthermore, there is currently little evidence on the practice behaviours of SLTs available. To investigate whether SLTs in the Republic of Ireland (ROI) vary in how they assess and manage adults with non-progressive dysarthria; to explore SLTs' use of the theoretical principles that influence therapeutic approaches; to identify challenges perceived by SLTs when working with adults with non-progressive dysarthria; and to determine SLTs' perceptions of further training needs. A 33-item survey questionnaire was devised and disseminated electronically via SurveyMonkey to SLTs working with non-progressive dysarthria in the ROI. SLTs were identified through e-mail lists for special-interest groups, SLT manager groups and general SLT mailing lists. A reminder e-mail was sent to all SLTs 3 weeks later following the initial e-mail containing the survey link. The survey remained open for 6 weeks. Questionnaire responses were analysed using descriptive statistics. Qualitative comments to open-ended questions were analysed through thematic analysis. Eighty SLTs responded to the survey. Sixty-seven of these completed the survey in full. SLTs provided both quantitative and qualitative data regarding their assessment and management practices in this area. Practice varied depending on the context of the SLT service, experience of SLTs and the resources available to them. Not all SLTs used principles such as motor programming or neural plasticity to direct clinical work

  12. Acoustic and Perceptual Effects of Dysarthria in Greek with a Focus on Lexical Stress

    Science.gov (United States)

    Papakyritsis, Ioannis

    The field of motor speech disorders in Greek is substantially underresearched. Additionally, acoustic studies on lexical stress in dysarthria are generally very rare (Kim et al. 2010). This dissertation examined the acoustic and perceptual effects of Greek dysarthria focusing on lexical stress. Additional possibly deviant speech characteristics were acoustically analyzed. Data from three dysarthric participants and matched controls was analyzed using a case study design. The analysis of lexical stress was based on data drawn from a single word repetition task that included pairs of disyllabic words differentiated by stress location. This data was acoustically analyzed in terms of the use of the acoustic cues for Greek stress. The ability of the dysarthric participants to signal stress in single words was further assessed in a stress identification task carried out by 14 naive Greek listeners. Overall, the acoustic and perceptual data indicated that, although all three dysarthric speakers presented with some difficulty in the patterning of stressed and unstressed syllables, each had different underlying problems that gave rise to quite distinct patterns of deviant speech characteristics. The atypical use of lexical stress cues in Anna's data obscured the prominence relations of stressed and unstressed syllables to the extent that the position of lexical stress was usually not perceptually transparent. Chris and Maria on the other hand, did not have marked difficulties signaling lexical stress location, although listeners were not 100% successful in the stress identification task. For the most part, Chris' atypical phonation patterns and Maria's very slow rate of speech did not interfere with lexical stress signaling. The acoustic analysis of the lexical stress cues was generally in agreement with the participants' performance in the stress identification task. Interestingly, in all three dysarthric participants, but more so in Anna, targets stressed on the 1st

  13. Analysis of dysarthria in amyotrophic lateral sclerosis; MRI of the tongue and formant analysis of vowels

    Energy Technology Data Exchange (ETDEWEB)

    Watanabe, Sakae; Arasaki, Keisuke (Hitachi General Hospital, Ibaraki (Japan)); Nagata, Hiroshi; Shouji, Shinichi

    1994-03-01

    To evaluate dysarthria in patients with ALS, we used MRI (gradient rephasing echo method) and compared it with the computed acoustic analysis. Five ALS male patients of progressive bulbar palsy type and five normal males were asked to phonate the five Japanese vowels, /a/[center dot]/i/[center dot]/u/[center dot]/e/[center dot]/o/. MRI of the sagittal tongue and vocal tract was obtained by the gradient rephasing echo method (0.2 Tesla, TR: 30 ms, TE: 10 ms, FA: 25degC, Hitachi). We could clearly visualized the change of tongue shape and the narrow site of the vocal tract for each vowel phonation. In normal subjects, the tongue shape and the narrow site of the vocal tract were distinguishable between each vowel, but unclear in ALS. Acoustic analysis showed that the first formant frequency of /i/[center dot]/u/ in ALS was higher than normal and the second formant frequency of /i/[center dot]/e/ in ALS was significantly lower than normal. The discrepancy from the normal first, second and third formant frequency for each vowel of ALS was most seen in /i/[center dot]/ e/. It was speculated that /i/ and /e/ were the most disturbed vowels in ALS. The first and second formant frequency of vowel depends on the tongue shape and the width of the oral cavity. Therefore the results of the acoustic analysis in ALS indicated poor movement of tongue in /i/[center dot]/u/[center dot]/e/ and were compatible with the findings of the sagittal tongue MRI. The sagittal view of the tongue in the gradient rephasing echo MRI and the acoustic analysis are useful in evaluating dysarthria in ALS. (author).

  14. Impact of cognitive function and dysarthria on spoken language and perceived speech severity in multiple sclerosis

    Science.gov (United States)

    Feenaughty, Lynda

    Purpose: The current study sought to investigate the separate effects of dysarthria and cognitive status on global speech timing, speech hesitation, and linguistic complexity characteristics and how these speech behaviors impose on listener impressions for three connected speech tasks presumed to differ in cognitive-linguistic demand for four carefully defined speaker groups; 1) MS with cognitive deficits (MSCI), 2) MS with clinically diagnosed dysarthria and intact cognition (MSDYS), 3) MS without dysarthria or cognitive deficits (MS), and 4) healthy talkers (CON). The relationship between neuropsychological test scores and speech-language production and perceptual variables for speakers with cognitive deficits was also explored. Methods: 48 speakers, including 36 individuals reporting a neurological diagnosis of MS and 12 healthy talkers participated. The three MS groups and control group each contained 12 speakers (8 women and 4 men). Cognitive function was quantified using standard clinical tests of memory, information processing speed, and executive function. A standard z-score of ≤ -1.50 indicated deficits in a given cognitive domain. Three certified speech-language pathologists determined the clinical diagnosis of dysarthria for speakers with MS. Experimental speech tasks of interest included audio-recordings of an oral reading of the Grandfather passage and two spontaneous speech samples in the form of Familiar and Unfamiliar descriptive discourse. Various measures of spoken language were of interest. Suprasegmental acoustic measures included speech and articulatory rate. Linguistic speech hesitation measures included pause frequency (i.e., silent and filled pauses), mean silent pause duration, grammatical appropriateness of pauses, and interjection frequency. For the two discourse samples, three standard measures of language complexity were obtained including subordination index, inter-sentence cohesion adequacy, and lexical diversity. Ten listeners

  15. Use of Crowdsourcing to Assess the Ecological Validity of Perceptual-Training Paradigms in Dysarthria.

    Science.gov (United States)

    Lansford, Kaitlin L; Borrie, Stephanie A; Bystricky, Lukas

    2016-05-01

    It has been documented in laboratory settings that familiarizing listeners with dysarthric speech improves intelligibility of that speech. If these findings can be replicated in real-world settings, the ability to improve communicative function by focusing on communication partners has major implications for extending clinical practice in dysarthria rehabilitation. An important step toward development of a listener-targeted treatment approach requires establishment of its ecological validity. To this end, the present study leveraged the mechanism of crowdsourcing to determine whether perceptual-training benefits achieved by listeners in the laboratory could be elicited in an at-home computer-based scenario. Perceptual-training data (i.e., intelligibility scores from a posttraining transcription task) were collected from listeners in 2 settings-the laboratory and the crowdsourcing website Amazon Mechanical Turk. Consistent with previous findings, results revealed a main effect of training condition (training vs. control) on intelligibility scores. There was, however, no effect of training setting (Mechanical Turk vs. laboratory). Thus, the perceptual benefit achieved via Mechanical Turk was comparable to that achieved in the laboratory. This study provides evidence regarding the ecological validity of perceptual-training paradigms designed to improve intelligibility of dysarthric speech, thereby supporting their continued advancement as a listener-targeted treatment option.

  16. Direct magnitude estimates of speech intelligibility in dysarthria: effects of a chosen standard.

    Science.gov (United States)

    Weismer, Gary; Laures, Jacqueline S

    2002-06-01

    Direct magnitude estimation (DME) has been used frequently as a perceptual scaling technique in studies of the speech intelligibility of persons with speech disorders. The technique is typically used with a standard, or reference stimulus, chosen as a good exemplar of "midrange" intelligibility. In several published studies, the standard has been chosen subjectively, usually on the basis of the expertise of the investigators. The current experiment demonstrates that a fixed set of sentence-level utterances, obtained from 4 individuals with dysarthria (2 with Parkinson disease, 2 with traumatic brain injury) as well as 3 neurologically normal speakers, is scaled differently depending on the identity of the standard. Four different standards were used in the main experiment, three of which were judged qualitatively in two independent evaluations to be good exemplars of midrange intelligibility. Acoustic analyses did not reveal obvious differences between these four standards but suggested that the standard with the worst-scaled intelligibility had much poorer voice source characteristics compared to the other three standards. Results are discussed in terms of possible standardization of midrange intelligibility exemplars for DME experiments.

  17. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

    Science.gov (United States)

    Turner, Samantha J; Hildebrand, Michael S; Block, Susan; Damiano, John; Fahey, Michael; Reilly, Sheena; Bahlo, Melanie; Scheffer, Ingrid E; Morgan, Angela T

    2013-09-01

    Relatively little is known about the neurobiological basis of speech disorders although genetic determinants are increasingly recognized. The first gene for primary speech disorder was FOXP2, identified in a large, informative family with verbal and oral dyspraxia. Subsequently, many de novo and familial cases with a severe speech disorder associated with FOXP2 mutations have been reported. These mutations include sequencing alterations, translocations, uniparental disomy, and genomic copy number variants. We studied eight probands with speech disorder and their families. Family members were phenotyped using a comprehensive assessment of speech, oral motor function, language, literacy skills, and cognition. Coding regions of FOXP2 were screened to identify novel variants. Segregation of the variant was determined in the probands' families. Variants were identified in two probands. One child with severe motor speech disorder had a small de novo intragenic FOXP2 deletion. His phenotype included features of childhood apraxia of speech and dysarthria, oral motor dyspraxia, receptive and expressive language disorder, and literacy difficulties. The other variant was found in a family in two of three family members with stuttering, and also in the mother with oral motor impairment. This variant was considered a benign polymorphism as it was predicted to be non-pathogenic with in silico tools and found in database controls. This is the first report of a small intragenic deletion of FOXP2 that is likely to be the cause of severe motor speech disorder associated with language and literacy problems. Copyright © 2013 Wiley Periodicals, Inc.

  18. Automatic evaluation of speech rhythm instability and acceleration in dysarthrias associated with basal ganglia dysfunction

    Directory of Open Access Journals (Sweden)

    Jan eRusz

    2015-07-01

    in dysarthrias.

  19. A retrospective study of long-term treatment outcomes for reduced vocal intensity in hypokinetic dysarthria

    Directory of Open Access Journals (Sweden)

    Christopher R. Watts

    2016-02-01

    Full Text Available Abstract Background Reduced vocal intensity is a core impairment of hypokinetic dysarthria in Parkinson’s disease (PD. Speech treatments have been developed to rehabilitate the vocal subsystems underlying this impairment. Intensive treatment programs requiring high-intensity voice and speech exercises with clinician-guided prompting and feedback have been established as effective for improving vocal function. Less is known, however, regarding long-term outcomes of clinical benefit in speakers with PD who receive these treatments. Methods A retrospective cohort design was utilized. Data from 78 patient files across a three year period were analyzed. All patients received a structured, intensive program of voice therapy focusing on speaking intent and loudness. The dependent variable for all analyses was vocal intensity in decibels (dBSPL. Vocal intensity during sustained vowel production, reading, and novel conversational speech was compared at pre-treatment, post-treatment, six month follow-up, and twelve month follow-up periods. Results Statistically significant increases in vocal intensity were found at post-treatment, 6 months, and 12 month follow-up periods with intensity gains ranging from 5 to 17 dB depending on speaking condition and measurement period. Significant treatment effects were found in all three speaking conditions. Effect sizes for all outcome measures were large, suggesting a strong degree of practical significance. Conclusions Significant increases in vocal intensity measured at 6 and 12 moth follow-up periods suggested that the sample of patients maintained treatment benefit for up to a year. These findings are supported by outcome studies reporting treatment outcomes within a few months post-treatment, in addition to prior studies that have reported long-term outcome results. The positive treatment outcomes experienced by the PD cohort in this study are consistent with treatment responses subsequent to other treatment

  20. Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

    LENUS (Irish Health Repository)

    McHugh, John C

    2012-02-01

    Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene. The clinical course in both subjects was progression to severe disability. The enlarging spectrum of sensory ataxic neuropathies associated with mitochondrial DNA (mtDNA) instability and POLG mutations should be recognized and considered in the differential diagnosis of this unusual presentation.

  1. MRI-Based Neuroanatomical Predictors of Dysphagia, Dysarthria, and Aphasia in Patients with First Acute Ischemic Stroke
.

    Science.gov (United States)

    Flowers, Heather L; AlHarbi, Mohammed A; Mikulis, David; Silver, Frank L; Rochon, Elizabeth; Streiner, David; Martino, Rosemary

    2017-01-01

    Due to the high post-stroke frequency of dysphagia, dysarthria, and aphasia, we developed comprehensive neuroanatomical, clinical, and demographic models to predict their presence after acute ischemic stroke. The sample included 160 randomly selected first-ever stroke patients with confirmed infarction on magnetic resonance imaging from 1 tertiary stroke center. We documented acute lesions within 12 neuroanatomical regions and their associated volumes. Further, we identified concomitant chronic brain disease, including atrophy, white matter hyperintensities, and covert strokes. We developed predictive models using logistic regression with odds ratios (OR) and their 95% confidence intervals (95% CI) including demographic, clinical, and acute and chronic neuroanatomical factors. Predictors of dysphagia included medullary (OR 6.2, 95% CI 1.5-25.8), insular (OR 4.8, 95% CI 2.0-11.8), and pontine (OR 3.6, 95% CI 1.2-10.1) lesions, followed by brain atrophy (OR 3.0, 95% CI 1.04-8.6), internal capsular lesions (OR 2.9, 95% CI 1.2-6.6), and increasing age (OR 1.4, 95% CI 1.1-1.8). Predictors of dysarthria included pontine (OR 7.8, 95% CI 2.7-22.9), insular (OR 4.5, 95% CI 1.8-11.4), and internal capsular (OR 3.6, 95% CI 1.6-7.9) lesions. Predictors of aphasia included left hemisphere insular (OR 34.4, 95% CI 4.2-283.4), thalamic (OR 6.2, 95% CI 1.6-24.4), and cortical middle cerebral artery (OR 4.7, 95% CI 1.5-14.2) lesions. Predicting outcomes following acute stroke is important for treatment decisions. Determining the risk of major post-stroke impairments requires consideration of factors beyond lesion localization. Accordingly, we demonstrated interactions between localized and global brain function for dysphagia and elucidated common lesion locations across 3 debilitating impairments.
. © 2017 The Author(s)
. Published by S. Karger AG, Basel.

  2. Pseudobulbar dysarthria in the initial stage of motor neuron disease with dementia: a clinicopathological report of two autopsied cases.

    Science.gov (United States)

    Ishihara, Kenji; Araki, Shigeo; Ihori, Nami; Suzuki, Yoshio; Shiota, Jun-ichi; Arai, Nobutaka; Nakano, Imaharu; Kawamura, Mitsuru

    2013-01-01

    We retrospectively analyzed the clinical features of two cases of neurodegenerative disease, whose initial symptoms were motor speech disorder and dementia, brought to autopsy. We compared the distributions of pathological findings with the clinical features. The main symptom of speech disorder was dysarthria, involving low pitch, slow rate, hypernasality and hoarseness. Other than these findings, effortful speech, sound prolongation and initial difficulty were observed. Moreover, repetition of multisyllables was severely impaired compared to monosyllables. Repetition and comprehension of words and sentences were not impaired. Neither atrophy nor fasciculation of the tongue was observed. Both cases showed rapid progression to mutism within a few years. Neuropathologically, frontal lobe degeneration including the precentral gyrus was observed. The bilateral pyramidal tracts also showed severe degeneration. However, the nucleus of the hypoglossal nerve showed only mild degeneration. These findings suggest upper motor neuron dominant motor neuron disease with dementia. We believe the results indicate a subgroup of motor neuron disease with dementia whose initial symptoms involve pseudobulbar palsy and dementia, and which shows rapid progression to mutism. Copyright © 2013 S. Karger AG, Basel.

  3. Effectiveness of enhanced communication therapy in the first four months after stroke for aphasia and dysarthria: a randomised controlled trial.

    Science.gov (United States)

    Bowen, Audrey; Hesketh, Anne; Patchick, Emma; Young, Alys; Davies, Linda; Vail, Andy; Long, Andrew F; Watkins, Caroline; Wilkinson, Mo; Pearl, Gill; Ralph, Matthew A Lambon; Tyrrell, Pippa

    2012-07-13

    To assess the effectiveness of enhanced communication therapy in the first four months after stroke compared with an attention control (unstructured social contact). Externally randomised, pragmatic, parallel, superiority trial with blinded outcome assessment. Twelve UK hospital and community stroke services. 170 adults (mean age 70 years) randomised within two weeks of admission to hospital with stroke (December 2006 to January 2010) whom speech and language therapists deemed eligible, and 135 carers. Enhanced, agreed best practice, communication therapy specific to aphasia or dysarthria, offered by speech and language therapists according to participants' needs for up to four months, with continuity from hospital to community. Comparison was with similarly resourced social contact (without communication therapy) from employed visitors. Primary outcome was blinded, functional communicative ability at six months on the Therapy Outcome Measure (TOM) activity subscale. Secondary outcomes (unblinded, six months): participants' perceptions on the Communication Outcomes After Stroke scale (COAST); carers' perceptions of participants from part of the Carer COAST; carers' wellbeing on Carers of Older People in Europe Index and quality of life items from Carer COAST; and serious adverse events. Therapist and visitor contact both had good uptake from service users. An average 22 contacts (intervention or control) over 13 weeks were accepted by users. Impairment focused therapy was the approach most often used by the speech and language therapists. Visitors most often provided general conversation. In total, 81/85 of the intervention group and 72/85 of the control group completed the primary outcome measure. Both groups improved on the TOM activity subscale. The estimated six months group difference was not statistically significant, with 0.25 (95% CI -0.19 to 0.69) points in favour of therapy. Sensitivity analyses that adjusted for chance baseline imbalance further reduced

  4. Progressive dysarthria and ataxia

    Directory of Open Access Journals (Sweden)

    Lynsey McAlpine

    2015-02-01

    Full Text Available ‘Guillain-Barre syndrome’ (GBS is a broad term used to describe a collection of clinical syndromes which manifest as acute immune-mediated demyelinating diseases or more rarely axonal diseases of the peripheral nervous system. The most commonly recognised form is ‘acute inflammatory demyelinating polyradiculoneuropathy’ (AIDP, which classically presents as a proximal and distal weakness with diminished reflexes, often involving the cranial nerves and muscles of respiration [1]. It is a neurological emergency as these patients are at risk of developing respiratory failure; one third will require admission to the Intensive Care Unit (ICU for ventilatory support, and mortality rates of 3-10% have been reported

  5. Progressive dysarthria and ataxia

    African Journals Online (AJOL)

    This case concerns a 67 year old retired GP with a history of hypertension and ... walk independently and was having recurrent falls. They ... uncontrolled hypertension was certainly a further risk factor. The absence of any significant CT findings did not preclude a cerebrovascular event as ischaemic changes are not always ...

  6. Dysarthria in individuals with Parkinson's disease: a protocol for a binational, cross-sectional, case-controlled study in French and European Portuguese (FraLusoPark).

    Science.gov (United States)

    Pinto, Serge; Cardoso, Rita; Sadat, Jasmin; Guimarães, Isabel; Mercier, Céline; Santos, Helena; Atkinson-Clement, Cyril; Carvalho, Joana; Welby, Pauline; Oliveira, Pedro; D'Imperio, Mariapaola; Frota, Sónia; Letanneux, Alban; Vigario, Marina; Cruz, Marisa; Martins, Isabel Pavão; Viallet, François; Ferreira, Joaquim J

    2016-11-17

    Individuals with Parkinson's disease (PD) have to deal with several aspects of voice and speech decline and thus alteration of communication ability during the course of the disease. Among these communication impairments, 3 major challenges include: (1) dysarthria, consisting of orofacial motor dysfunction and dysprosody, which is linked to the neurodegenerative processes; (2) effects of the pharmacological treatment, which vary according to the disease stage; and (3) particular speech modifications that may be language-specific, that is, dependent on the language spoken by the patients. The main objective of the FraLusoPark project is to provide a thorough evaluation of changes in PD speech as a result of pharmacological treatment and disease duration in 2 different languages (French vs European Portuguese). Individuals with PD are enrolled in the study in France (N=60) and Portugal (N=60). Their global motor disability and orofacial motor functions is assessed with specific clinical rating scales, without (OFF) and with (ON) pharmacological treatment. 2 groups of 60 healthy age-matched volunteers provide the reference for between-group comparisons. Along with the clinical examinations, several speech tasks are recorded to obtain acoustic and perceptual measures. Patient-reported outcome measures are used to assess the psychosocial impact of dysarthria on quality of life. The study has been approved by the local responsible committees on human experimentation and is conducted in accordance with the ethical standards. A valuable large-scale database of speech recordings and metadata from patients with PD in France and Portugal will be constructed. Results will be disseminated in several articles in peer-reviewed journals and in conference presentations. Recommendations on how to assess speech and voice disorders in individuals with PD to monitor the progression and management of symptoms will be provided. NCT02753192, Pre-results. Published by the BMJ Publishing

  7. Legionella pneumophila infection presenting as headache, confusion and dysarthria in a human immunodeficiency virus-1 (HIV-1 positive patient: case report

    Directory of Open Access Journals (Sweden)

    Robbins Nathaniel M

    2012-09-01

    Full Text Available Abstract Background Legionella pneumophila is a common cause of community-acquired pneumonia. Central nervous system dysfunction is common, and diagnosis in the absence of pulmonary symptoms can be challenging. Here we describe an atypical clinical presentation of Legionella infection in a patient with HIV who was found to have an unusual neuroradiologic lesion that further served to obscure the diagnosis. This is the first such description in a patient with Legionellosis and HIV coinfection. Case presentation A 43 year-old HIV positive man presented to our hospital with dysarthria, fevers, headache, and altered mental status. Initial work-up revealed pneumonia and a lesion of the splenium of the corpus callosum on magnetic resonance imaging. He was subsequently diagnosed with Legionella pneumonia and treated with complete symptom resolution. Conclusions Neurologic abnormalities are frequent in Legionellosis, but the diagnosis may be difficult in the absence of overt respiratory symptoms and in the presence of HIV coinfection. A high index of suspicion and early initiation of empiric antibiotics is imperative since early treatment may help prevent long-term sequelae. Neuroimaging abnormalities, though rare, can help the physician narrow down the diagnosis and avoid unnecessary invasive testing. Future studies should aim to elucidate the as yet unknown role of neuroimaging in the diagnoses and prognostication of Legionellosis, as well as the interaction between Legionella infection and HIV.

  8. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

    Science.gov (United States)

    Blackburn, Patrick R; Zimmermann, Michael T; Gass, Jennifer M; Harris, Kimberly G; Cousin, Margot A; Boczek, Nicole J; Ross, Owen A; Klee, Eric W; Brazis, Paul W; Van Gerpen, Jay A; Atwal, Paldeep S

    2016-12-05

    Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty. The patient developed a mixed hyperkinetic disorder consisting of chorea, dystonia affecting the upper extremities, dysarthria, and blepharospasm. Whole exome sequencing of the patient revealed a novel heterozygous missense variant (Chr11(GRCh38): g.26525644C > G; NM_031418.2(ANO3): c.702C > G; NP_113606.2. p.C234W) in exon 7 in the ANO3 gene. ANO3 encodes anoctamin-3, a Ca +2 -dependent phospholipid scramblase expressed in striatal-neurons, that has been implicated in autosomal dominant craniocervical dystonia (Dystonia-24, DYT24, MIM# 615034). To date, only a handful of cases of DYT-24 have been described in the literature. The complex clinical presentation of the patient described includes hyperkinesias, complex motor movements, and vocal tics, which have not been reported in other patients with DYT24. This report highlights the utility of using clinical whole exome sequencing in patients with complex neurological phenotypes that would not normally fit a classical presentation of a defined genetic disease.

  9. Disartria e doença de Machado-Joseph: relato de caso Dysarthria in Machado-Joseph disease: case report

    Directory of Open Access Journals (Sweden)

    Angela Ruviaro Busanello

    2007-09-01

    Full Text Available O objetivo deste estudo foi descrever os principais aspectos fonoaudiológicos relacionados à fala na doença de Machado-Joseph, em um indivíduo do sexo masculino, selecionado entre outros pacientes portadores desta doença com limitações significativas de fala. O paciente foi atendido no Setor de Fonoaudiologia do Serviço de Fisiatria do Hospital de Clínicas de Porto Alegre. Especificamente quanto à fala e seus processos, observou-se quadro disártrico predominantemente atáxico, que piorou com a evolução da doença, passando de leve para severo. Estes resultados permitiram a conclusão de que as alterações tornam-se significativas na fala do portador de doença de Machado-Joseph, associadas ao comprometimento da respiração, articulação, fonação e ressonância. Concluiu-se também quanto à importância do tratamento fonoaudiológico na doença de Machado-Joseph, sugerindo-se novos estudos, com número maior de indivíduos, sejam realizados, a fim de melhor caracterizar as alterações de fala observadas neste estudo.The aim of this study was to describe the essential speech aspects of Machado-Joseph disease in a male patient with this diagnosis, selected among others with the same disease that received treatment at the Speech-Language Pathology and Audiology department of Hospital de Clínicas de Porto Alegre (Brazil. Regarding the speech process, it was observed ataxic dysarthria, which worsened from light to severe with the evolution of the disease. These results allowed the conclusion that speech alterations become more and more significant for Machado-Joseph patients, together with deficits in breathing, articulation, phonation and resonance. Finally, it was possible to suggest that Speech Pathology treatment is essential in Machado-Joseph disease, although more studies are necessary, with larger samples, in order to better characterize the speech alterations observed this study.

  10. Automated Speech Rate Measurement in Dysarthria

    Science.gov (United States)

    Martens, Heidi; Dekens, Tomas; Van Nuffelen, Gwen; Latacz, Lukas; Verhelst, Werner; De Bodt, Marc

    2015-01-01

    Purpose: In this study, a new algorithm for automated determination of speech rate (SR) in dysarthric speech is evaluated. We investigated how reliably the algorithm calculates the SR of dysarthric speech samples when compared with calculation performed by speech-language pathologists. Method: The new algorithm was trained and tested using Dutch…

  11. Pneumophonic Coordination Impairments in Parkinsonian Dysarthria

    African Journals Online (AJOL)

    Patients and Methods: Using a dedicated system (EVA2), 24 parkinsonian patients were recorded after withdrawal of Ldopa for at least 12 h (condition called OFF DOPA) in order to evaluate intra-oral pressure (IOP), mean oral air flow (MOAF) and laryngeal resistance (LR) on six /p/ during realization of the sentence ''Papa ...

  12. Disartria na doença de Wilson: análise de dois casos em fases distintas Dysarthria in Wilson's disease: analysis of two cases in different stages

    Directory of Open Access Journals (Sweden)

    Natália Casagrande Brabo

    2010-06-01

    Full Text Available TEMA: disartria na Doença de Wilson. PROCEDIMENTOS: estudo de caso de dois pacientes com o diagnóstico da doença, ambos adultos jovens, do sexo feminino e com seis anos de escolaridade. Quatro fonoaudiólogas realizaram a avaliação perceptivo-auditiva de modo independente, na qual foram investigados os seguintes parâmetros: tipo de voz, loudness, pitch, ataque vocal, instabilidade fonatória e ressonância. O grau de alteração de cada parâmetro foi mensurado através de uma escala analógico-visual. Além disso, foram obtidas medidas de inteligibilidade por transcrição ortográfica. A análise acústica foi realizada por meio do programa Praat, com a obtenção de medidas de frequência fundamental, de perturbação e ruído e medidas temporais. RESULTADOS: a fala de ambos os pacientes foi caracterizada por: redução do tempo máximo de fonação, voz soprosa e tensa, ataques vocais aspirados, instabilidade vocal, aumento de shimmer e proporção ruído-harmônico, hipernasalidade, redução da diadococinesia oral, da inteligibilidade e da velocidade da fala. Os resultados obtidos sugeriram que o paciente que cursa com a Doença de Wilson há mais tempo, apresentou prejuízo mais acentuado na maioria dos parâmetros perceptuais e acústicos analisados. CONCLUSÃO: foram identificadas manifestações comuns entre os casos, as quais podem constituir-se em traços característicos da fala de pacientes disártricos com Doença de Wilson. Todavia, diferenças também foram evidenciadas, as quais podem estar relacionadas ao tempo de evolução da doença.BACKGROUND: dysarthria in Wilson's disease. PROCEDURES: case study of two patients with disease's diagnosis, both young female adults, with six years of schooling. Perceptual analysis was done by four speech therapists. The following parameters were assessed: voice quality, loudness, pitch, vocal attack, vocal stability and resonance, as well as the degree of deviated parameters, measured

  13. Adaptação para a língua Portuguesa e aplicação de protocolo de avaliação das disartrias de origem central em pacientes com Doença de Parkinson Adjustment to the Portuguese and application to patients with Parkinson's disease of protocol within central origin dysarthrias' assessment

    Directory of Open Access Journals (Sweden)

    Angélica Suelen Fracassi

    2011-12-01

    Full Text Available OBJETIVO: traduzir e adaptar protocolo desenvolvido por pesquisadores alemães, adequando-o às características fonéticas e linguísticas do português falado no Brasil. Caracterizar os componentes de fala mais alterados na população com doença de Parkinson, comparando-os com grupo de sujeitos normais na mesma faixa etária. MÉTODOS: realizou-se a tradução e adaptação do protocolo. Posteriormente foram avaliados 21 pacientes com diagnóstico neurológico de Doença de Parkinson nos estágios Hoehn &Yarh, entre 2 e 3, e 10 sujeitos normais. O protocolo incluía avaliação da respiração, fonação, ressonância, articulação, prosódia e a análise acústica dos parâmetros vocais. RESULTADOS: o protocolo mostrou-se de fácil aplicação clínica. Nos sujeitos com doença de Parkinson foram observadas alterações predominantes na fonação (85,9% e articulação (42,9%. CONCLUSÃO: o estudo demonstrou ser o protocolo uma ferramenta eficiente para a avaliação da disartria em pacientes com doença de Parkinson.PURPOSE: to translate and adapt the protocol developed by German researchers, adjusting it to the phonetic and linguistic characteristics of Brazilian Portuguese. Observe the amended speech components in a group of patients with Parkinson's disease, and comparing them with normal subjects in the same age. METHOD: twenty one patients with neurological diagnosis of Parkinson's disease in the Hoehn & Yarh stages (2-3, and 10 control subjects were assessed. The protocol was translated, adjusted and applied to the subjects of both control and Parkinson's disease group, assessing the breathing, phonation, resonance, articulation, prosody and acoustic analysis. RESULTS: in the dysarthria evaluation, the protocol showed to be simple and it presented a fast clinical application. In the subjects with Parkinson's disease, we observed alterations in both phonation (85.9% and articulation (42.9%. CONCLUSION: the study demonstrated that the

  14. Cognitive-Perceptual Examination of Remediation Approaches to Hypokinetic Dysarthria

    Science.gov (United States)

    McAuliffe, Megan J.; Kerr, Sarah E.; Gibson, Elizabeth M. R.; Anderson, Tim; LaShell, Patrick J.

    2014-01-01

    Purpose: To determine how increased vocal loudness and reduced speech rate affect listeners' cognitive-perceptual processing of hypokinetic dysarthric speech associated with Parkinson's disease. Method: Fifty-one healthy listener participants completed a speech perception experiment. Listeners repeated phrases produced by 5 individuals…

  15. Characterizing Intonation Deficit in Motor Speech Disorders: An Autosegmental-Metrical Analysis of Spontaneous Speech in Hypokinetic Dysarthria, Ataxic Dysarthria, and Foreign Accent Syndrome

    Science.gov (United States)

    Lowit, Anja; Kuschmann, Anja

    2012-01-01

    Purpose: The autosegmental-metrical (AM) framework represents an established methodology for intonational analysis in unimpaired speaker populations but has found little application in describing intonation in motor speech disorders (MSDs). This study compared the intonation patterns of unimpaired participants (CON) and those with Parkinson's…

  16. Dysarthria in Mandarin-Speaking Children with Cerebral Palsy: Speech Subsystem Profiles

    Science.gov (United States)

    Chen, Li-Mei; Hustad, Katherine C.; Kent, Ray D.; Lin, Yu Ching

    2018-01-01

    Purpose: This study explored the speech characteristics of Mandarin-speaking children with cerebral palsy (CP) and typically developing (TD) children to determine (a) how children in the 2 groups may differ in their speech patterns and (b) the variables correlated with speech intelligibility for words and sentences. Method: Data from 6 children…

  17. Electromagnetic articulography assessment of articulatory function in adults with dysarthria following traumatic brain injury.

    Science.gov (United States)

    Kuruvilla, Mili; Murdoch, Bruce; Goozèe, Justine

    2007-06-01

    To explore articulatory kinematic differences between normal and dysarthric speakers post-traumatic brain injury (TBI) during syllable and sentence productions. A comparison between the control, mild (MTBI) and severe TBI groups for all measured kinematic parameters was carried out using the Kruskal Wallis test. Ten participants with a severe TBI and six post-MTBI formed the experimental group. The control group consisted of 14 age and sex matched non-neurologically impaired speakers. Articulatory kinematic profiles for the three groups were obtained using the Electromagnetic Articulograph (EMA) while repeating sentence and syllable embedded /t/ and /k/ productions at a habitual rate and loudness level. Significant differences between the severe TBI and control group were identified only for the release phase of the /t/ sentence productions wherein an increase in mean maximum acceleration was observed for the severe TBI group. While a simple syllable repetition task at a moderate rate was unable to differentiate the three groups, a complex sentence production task precipitated an increase in mean maximum acceleration which may be indicative of increased articulatory effort and impaired speech motor control even at a convenient rate for the severe group.

  18. Comparação entre as análises auditiva e acústica nas disartrias Comparison between auditory-perceptual and acoustic analyses in dysarthrias

    Directory of Open Access Journals (Sweden)

    Karin Zazo Ortiz

    2008-01-01

    Full Text Available OBJETIVO: Comparar os dados da análise perceptivo-auditiva (subjetiva com os dados da análise acústica (objetiva. MÉTODOS: Quarenta e dois pacientes disártricos, com diagnósticos neurológicos definidos, 21 do sexo masculino e 21 do sexo feminino foram submetidos à análise perceptual-auditiva e acústica. Todos os pacientes foram submetidos à gravação da voz, tendo sido avaliados, na análise auditiva, tipo de voz, ressonância (equilibrada, hipernasal ou laringo-faríngea, loudness (adequado, diminuído ou aumentado, pitch (adequado, grave, agudo ataque vocal (isocrônico, brusco ou soproso, e estabilidade (estável ou instável. Para a análise acústica foram utilizados os programas GRAM 5.1.7; para a análise da qualidade vocal e comportamento dos harmônicos na espectrografia e o Programa Vox Metria, para a obtenção das medidas objetivas. RESULTADOS: A comparação entre os achados das análises auditiva e acústica em sua maioria não foi significante, ou seja, não houve uma relação direta entre os achados subjetivos e os dados objetivos. Houve diferença estatisticamente significante apenas entre voz soprosa e Shimmer alterado (p=0,048 e entre a definição dos harmônicos e voz soprosa (p=0,040, sendo assim, observou-se correlação entre a presença de ruído à emissão e soprosidade. CONCLUSÕES: As análises perceptual-auditiva e acústica forneceram dados diferentes, porém complementares, auxiliando, de forma conjunta, no diagnóstico clínico das disartrias.PURPOSE: To compare data found in auditory-perceptual analyses (subjective and acoustic analyses (objective in dysarthric patients. METHODS: Forty-two patients with well defined neurological diagnosis, 21 male and 21 female, were evaluated in auditory-perceptual parameters and acoustic measures. All patients had their voices recorded. Auditory-perceptual voice analyses were made considering type of voice, resonance (balanced, hipernasal or laryngopharyngeal, loudness (adequate, decreased or increased, pitch (adequate, low or high, vocal attack (isochronic, sudden or breathy, and voice stability (stable or unstable. Acoustic analyses were made with GRAM 5.1.7 Program that considered voice quality and spectrographic tracing, and Vox Metria Program to obtain objective measures. RESULTS: The comparison between auditory-perceptual and acoustic data showed no correlation for all the parameters analyzed. It was found a significant difference between breathiness and shimmer alteration (p=0.048, and between breathiness and harmonics definition (p=0.040, evidencing correlation between noise presence during emission and breathiness. CONCLUSION: Acoustic analysis associated to auditory-perceptual analysis provided different but complementary data, helping the clinical diagnosis of dysarthias.

  19. Resultados preliminares do estudo da compreensão em sujeitos disatricos A preliminary investigation on language assessment outcome in dysarthria

    Directory of Open Access Journals (Sweden)

    Michele Devido dos Santos

    2011-10-01

    Full Text Available OBJETIVO: apresentar estudo sobre a compreensão de linguagem em sujeitos disártricos. MÉTODO: estudo retrospectivo, descritivo, de caráter qualitativo e quantitativo com 60 sujeitos com idade entre 40 a 70 anos. Foi realizado o cruzamento das tarefas de compreensão do protocolo Montreal Toulouse (versão alfa: compreensão de palavras orais (CPO e escritas (CPE; frases simples orais (CFSO e escritas(CFSE; frases complexas orais (CFCO e escritas (CFCE. RESULTADOS: com respeito à comparação entre a compreensão oral e a escrita, quanto maior a CPO maior a CPE; quanto maior a CFSO, maior CFSE e vice-versa; relativamente à compreensão oral e escrita, quanto maior a CP, maior CF; quanto maior a CFS, maior CFC e vice-versa; em relação à comparação de idade, gênero, e CFCO e CFCE, não se observa relações significativas. CONCLUSÃO: nos pacientes deste estudo, verificou-se que a compreensão das estruturas mais simples favorece a compreensão das mais complexas; a dificuldade de compreensão de estruturas simples apresenta relação direta com a dificuldade de compreensão de estruturas complexas.PURPOSE: to study language comprehension in dysarthric subjects. METHOD: a retrospective, descriptive and qualitative-quantitative study involving 60 subjects, age ranging from 40-70 years. Data crossing was carried out including sub-tests of comprehension related to: spoken words (SWC, written words (WWC, spoken simple phrases (SSPC, written simple phrases (WSPC, spoken complex phrases (SCPC and written complex phrases (WCPC. RESULTS: the higher the SWC, the higher the WWC; the higher the SSPC, the higher the WSPC, and vice-versa; the higher the WC, the higher the PC; the higher the SPC, the higher the CPC, and vice-versa. No associations with age, gender, SCPC and WCPC were observed. CONCLUSION: both comprehension and difficulty in comprehension are associated with the degree of complexity of linguistic structure.

  20. The effect of botulinum toxin A (Botox) injections used to treat limb spasticity on speech patterns in children with dysarthria and cerebral palsy: A report of two cases.

    Science.gov (United States)

    Workinger, Marilyn Seif; Kent, Raymond D; Meilahn, Jill R

    2017-05-19

    Botulinum toxin A (Btx-A) injections are used to treat limb spasticity in children with cerebral palsy (CP) resulting in improved gross and fine motor control. This treatment has also been reported to have additional functional effects, but the effect of treatment on speech has not been reported. This report presents results of longitudinal speech evaluation of two children with CP given injections of Btx-A for treatment of limb spasticity. Speech evaluations were accomplished at baseline (date of injections) and 4- and 10-weeks post-injections. Improvements in production of consonants, loudness control, and syllables produced per breath were found. Parental survey also suggested improvements in subjects' speech production and willingness to speak outside the testing situation. Future larger studies are warranted to assess the nature of the changes observed related to Btx-A.

  1. Epidemiologic Investigation of Health Effects in Air Force Personnel Following Exposure to Herbicides: Study Protocol

    Science.gov (United States)

    1982-12-01

    articulation, Ipoasia, agnosia ) Gr~ssly LF1orhal [1Abnormal -Specif’y Dysarthria 0Z Aphasia 02 .- 99 A Reflexes (0-absent; 1-sluggish; 2-active; 3-very...If indicated, ONormal E7Abnormal (b) Speech (articulation, aphasia, agnosia ) Grossly O7Normal Ofbnormal -Specify Dysarthria LZ Aphasia 0 142

  2. Cognitive-Linguistic Deficit and Speech Intelligibility in Chronic Progressive Multiple Sclerosis

    Science.gov (United States)

    Mackenzie, Catherine; Green, Jan

    2009-01-01

    Background: Multiple sclerosis is a disabling neurological disease with varied symptoms, including dysarthria and cognitive and linguistic impairments. Association between dysarthria and cognitive-linguistic deficit has not been explored in clinical multiple sclerosis studies. Aims: In patients with chronic progressive multiple sclerosis, the…

  3. Genetics Home Reference: progressive supranuclear palsy

    Science.gov (United States)

    ... slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality ... UK): Treatment of Progressive Supranuclear Palsy Partners in Parkinson's: Movement Disorder Specialist Finder University of California, San ...

  4. Genetics Home Reference: dystonia 6

    Science.gov (United States)

    ... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... dystonia, DYT6 type The Bachmann-Strauss Dystonia and Parkinson Foundation: What Is Dystonia? Patient Support and Advocacy ...

  5. Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

    Directory of Open Access Journals (Sweden)

    Ting Chen

    2016-01-01

    Conclusions: We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

  6. Genetics Home Reference: spastic paraplegia type 7

    Science.gov (United States)

    ... in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing ... AH, Warner TT. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. ...

  7. Disease: H01384 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available sson O, Jonasson J, Landtblom AM ... TITLE ... Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. ... JOURNAL ... Acta Myol 30:188-90 (2011) ...

  8. Genetics Home Reference: VLDLR-associated cerebellar hypoplasia

    Science.gov (United States)

    ... hypoplasia include moderate to profound intellectual disability, impaired speech (dysarthria) or a lack of speech, and eyes that do not look in the ... the United States. This condition has also been reported in families from Iran and Turkey. Related Information ...

  9. SCA28

    DEFF Research Database (Denmark)

    Svenstrup, Kirsten; Nielsen, Troels Tolstrup; Aidt, Frederik

    2017-01-01

    The spinocerebellar ataxias (SCA) are a group of rare inherited neurodegenerative diseases characterized by slowly progressive cerebellar ataxia, resulting in unsteady gait, clumsiness, and dysarthria. The disorders are predominantly inherited in an autosomal dominant manner. Mutations in the gen...

  10. Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

    NARCIS (Netherlands)

    Brunetti, Dario; Dusi, Sabrina; Giordano, Carla; Lamperti, Costanza; Morbin, Michela; Fugnanesi, Valeria; Marchet, Silvia; Fagiolari, Gigliola; Sibon, Ody; Moggio, Maurizio; d'Amati, Giulia; Tiranti, Valeria

    Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation. PANK2 encodes the mitochondrial enzyme pantothenate kinase type 2,

  11. Cerebral palsy

    Science.gov (United States)

    ... symptoms may include: Learning disabilities are common, but intelligence can be normal Speech problems (dysarthria) Hearing or ... 2018, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM ...

  12. MOG-IgG in NMO and related disorders: A multicenter study of 50 patients. Part 3

    DEFF Research Database (Denmark)

    Jarius, Sven; Kleiter, Ingo; Ruprecht, Klemens

    2016-01-01

    identified. All were negative for AQP4-IgG. Symptoms included respiratory insufficiency, intractable nausea and vomiting (INV), dysarthria, dysphagia, impaired cough reflex, oculomotor nerve palsy and diplopia, nystagmus, internuclear ophthalmoplegia (INO), facial nerve paresis, trigeminal hypesthesia...

  13. Speech and Swallowing in Parkinson’s Disease

    OpenAIRE

    Tjaden, Kris

    2008-01-01

    Dysarthria and dysphagia occur frequently in Parkinson’s disease (PD). Reduced speech intelligibility is a significant functional limitation of dysarthria, and in the case of PD is likely related articulatory and phonatory impairment. Prosodically-based treatments show the most promise for addressing these deficits as well as for maximizing speech intelligibility. Communication-oriented strategies also may help to enhance mutual understanding between a speaker and listener. Dysphagia in PD ca...

  14. Features of self-esteem in patients with various speech disorders

    OpenAIRE

    Anastasia E. Vishneva

    2016-01-01

    The paper presents the results of the self-assessment study in patients with aphasia and dysarthria after stroke or traumatic brain injury. All the patients were neurorehabilitation course. Self-esteem is considered as important parameter in the study of the psychological status of patients. This article describes the differences in the quantitative and qualitative parameters of self-esteem in patients with various speech defect (motor aphasia, temporal aphasia, dysarthria). The actual self-e...

  15. Watershed Cerebral Infarction in a Patient with Acute Renal Failure

    Directory of Open Access Journals (Sweden)

    Ruya Ozelsancak

    2016-02-01

    Full Text Available Acute renal failure can cause neurologic manifestations such as mood swings, impaired concentration, tremor, stupor, coma, asterixis, dysarthria. Those findings can also be a sign of cerebral infarct. Here, we report a case of watershed cerebral infarction in a 70-year-old female patient with acute renal failure secondary to contrast administration and use of angiotensin converting enzyme inhibitor. Patient was evaluated with magnetic resonance imaging because of dysarthria. Magnetic resonance imaging revealed milimmetric acute ischemic lesion in the frontal and parietal deep white matter region of both cerebral hemisphere which clearly demonstrated watershed cerebral infarction affecting internal border zone. Her renal function returned to normal levels on fifth day of admission (BUN 32 mg/dl, creatinine 1.36 mg/dl and she was discharged. Dysarthria continued for 20 days.

  16. Early-delayed radiation rhombencephalopathy

    International Nuclear Information System (INIS)

    Nightingale, S.; Dawes, P.J.D.K.; Cartlidge, N.E.F.; Newcastle upon Tyne Univ.

    1982-01-01

    A 37-year-old woman developed an early-delayed rhombencephalopathy 7 weeks after completing a course of radiotherapy to a glomus jugulare tumour. The clinical features, comprising nystagmus, skew strabismus, unilateral facial weakness, dysarthria and ataxia, are compared with four previously reported patients with this syndrome. (author)

  17. Diagnosing Apraxia of Speech on the Basis of Eight Distinctive Signs

    NARCIS (Netherlands)

    Jonkers, Roel; Feiken, J.; Stuive, Ilse

    2017-01-01

    This paper reports the results of a study on the use of a fixed number of specific signs to differentially diagnose Apraxia of Speech (AoS) from aphasia or dysarthria. This was done with a diagnostic instrument for AoS that was developed in the Netherlands in 2012, the Diagnostic Instrument for

  18. Dermatomyositis som markør for lungecancer

    DEFF Research Database (Denmark)

    Petersen, Bibi; Bygum, Anette

    2009-01-01

    A 76-year-old female was referred because of violaceous dermatitis on sun-exposed skin. She had associated muscle weakness, dysphagia, dysarthria and reported an unintended weight loss. The clinical presentation gave a suspicion of dermatomyositis, and diagnostic procedures revealed a small...

  19. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

    NARCIS (Netherlands)

    Armour, Christine M.; Smith, Amanda; Hartley, Taila; Chardon, Jodi Warman; Sawyer, Sarah; Schwartzentruber, Jeremy; Hennekam, Raoul; Majewski, Jacek; Bulman, Dennis E.; Suri, Mohnish; Boycott, Kym M.

    2016-01-01

    In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single

  20. Fitzsimmons Syndrome: Spastic Paraplegia, Brachydactyly, and Cognitive Impairment

    NARCIS (Netherlands)

    Armour, Christine M.; Humphreys, Peter; Hennekam, Raoul C. M.; Boycott, Kym M.

    2009-01-01

    Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported. The cause remains unknown. Here we describe a 16-year-old

  1. A case with unilateral hypoglossal nerve injury in branchial cyst surgery

    Directory of Open Access Journals (Sweden)

    Mukherjee Sudipta

    2012-02-01

    Full Text Available Abstract An 11 years old boy came, with complain of mild dysarthria. Examination revealed marked hemiatrophy of left side of the tongue. Five months back he underwent ipsilateral branchial cyst operation. To our knowledge, no case was reported. After branchial cyst operation if there is any residual remnant chance of recurrence is very high.

  2. Conditions that Mimic Parkinson's

    Science.gov (United States)

    ... with PSP also often have problems with swallowing (dysphagia), difficulty in producing speech (dysarthria), sleep problems and thinking problems. Page reviewed by Dr. Ryan Barmore, Movement Disorders Fellow at the University of Florida, a Parkinson’s Foundation Center of Excellence. 0 ‹ How a Diagnosis ...

  3. Physical Linguistics.

    Science.gov (United States)

    Tice, Bradley S.

    Physical linguistics is defined as the use of treatments from the field of speech pathology to enhance first and second language production in healthy individuals, resulting in increased quality and strength of phonation and articulation. A series of exercises for treating dysarthria (weakness, paralysis, discoordination, primary and secondary…

  4. The Role of Somatosensory Information in Speech Perception: Imitation Improves Recognition of Disordered Speech

    Science.gov (United States)

    Borrie, Stephanie A.; Schäfer, Martina C. M.

    2015-01-01

    Purpose: Perceptual learning paradigms involving written feedback appear to be a viable clinical tool to reduce the intelligibility burden of dysarthria. The underlying theoretical assumption is that pairing the degraded acoustics with the intended lexical targets facilitates a remapping of existing mental representations in the lexicon. This…

  5. Browse Title Index

    African Journals Online (AJOL)

    Items 151 - 200 of 220 ... Vol 8, No 1 (2015), Progressive dysarthria and ataxia, Abstract PDF ... Vol 5, No 2 (2012), Rehabilitation of patients with traumatic brain injuries in South ... Vol 6, No 4 (2013), Stroke in SSA: Review of current literature ...

  6. Electropalatography in the Description and Treatment of Speech Disorders in Five Children with Cerebral Palsy

    Science.gov (United States)

    Nordberg, Ann; Carlsson, Goran; Lohmander, Anette

    2011-01-01

    Some children with cerebral palsy have articulation disorders that are resistant to conventional speech therapy. The aim of this study was to investigate whether the visual feedback method of electropalatography (EPG) could be an effective tool for treating five children (mean age of 9.4 years) with dysarthria and cerebral palsy and to explore…

  7. Verbal Short-Term Memory in Individuals with Congenital Articulatory Disorders: New Empirical Data and Review of the Literature

    Science.gov (United States)

    Carlesimo, G. A.; Galloni, F.; Bonanni, R.; Sabbadini, M.

    2006-01-01

    Background: To investigate the nature of the articulatory rehearsal mechanism of the Articulatory Loop in Baddeley's Working Memory model, it seems particularly important to study individuals who developed a deficit (dysarthria) or total abolition (anarthria) of the ability to articulate language following a cerebral lesion. Method: In this study,…

  8. Semantic Trouble Sources and Their Repair in Conversations Affected by Parkinson's Disease

    Science.gov (United States)

    Saldert, Charlotta; Ferm, Ulrika; Bloch, Steven

    2014-01-01

    Background: It is known that dysarthria arising from Parkinson's disease may affect intelligibility in conversational interaction. Research has also shown that Parkinson's disease may affect cognition and cause word-retrieval difficulties and pragmatic problems in the use of language. However, it is not known whether or how these…

  9. Dysprosody and Stimulus Effects in Cantonese Speakers with Parkinson's Disease

    Science.gov (United States)

    Ma, Joan K.-Y.; Whitehill, Tara; Cheung, Katherine S.-K.

    2010-01-01

    Background: Dysprosody is a common feature in speakers with hypokinetic dysarthria. However, speech prosody varies across different types of speech materials. This raises the question of what is the most appropriate speech material for the evaluation of dysprosody. Aims: To characterize the prosodic impairment in Cantonese speakers with…

  10. An Epidemiologic Investigation of Health Effects in Air Force Personnel Following Exposure to Herbicides. Volume 2. First Followup Examination Results.

    Science.gov (United States)

    1987-10-01

    ABNORMAL___________________________________ -ESSENTIAL NORM. SKILLED ACTS - - ESSENTIAL AB -g-NTENTION NORM SPEECH ARTICULATION. APHASIA. AGNOSIA ) miN~rNTCGN AB...DYSARTHRIA *OTHER NORMAL GROSSLY APHASIA -~ miABNORMAL AGNOSIA NCS Trons.Optic EPOI-21159 321 A8900 W* -ABNORMAL - NORMAL LE F7 RIGHT BOTH- STRAIGH-T

  11. Effects of Age, Sex, and Body Position on Orofacial Muscle Tone in Healthy Adults

    Science.gov (United States)

    Dietsch, Angela M.; Clark, Heather M.; Steiner, Jessica N.; Solomon, Nancy Pearl

    2015-01-01

    Purpose: Quantification of tissue stiffness may facilitate identification of abnormalities in orofacial muscle tone and thus contribute to differential diagnosis of dysarthria. Tissue stiffness is affected by muscle tone as well as age-related changes in muscle and connective tissue. Method: The Myoton-3 measured tissue stiffness in 40 healthy…

  12. Pediatric traumatic brain injury: language outcomes and their relationship to the arcuate fasciculus.

    Science.gov (United States)

    Liégeois, Frédérique J; Mahony, Kate; Connelly, Alan; Pigdon, Lauren; Tournier, Jacques-Donald; Morgan, Angela T

    2013-12-01

    Pediatric traumatic brain injury (TBI) may result in long-lasting language impairments alongside dysarthria, a motor-speech disorder. Whether this co-morbidity is due to the functional links between speech and language networks, or to widespread damage affecting both motor and language tracts, remains unknown. Here we investigated language function and diffusion metrics (using diffusion-weighted tractography) within the arcuate fasciculus, the uncinate fasciculus, and the corpus callosum in 32 young people after TBI (approximately half with dysarthria) and age-matched healthy controls (n=17). Only participants with dysarthria showed impairments in language, affecting sentence formulation and semantic association. In the whole TBI group, sentence formulation was best predicted by combined corpus callosum and left arcuate volumes, suggesting this "dual blow" seriously reduces the potential for functional reorganisation. Word comprehension was predicted by fractional anisotropy in the right arcuate. The co-morbidity between dysarthria and language deficits therefore seems to be the consequence of multiple tract damage. Copyright © 2013 Elsevier Inc. All rights reserved.

  13. Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome

    DEFF Research Database (Denmark)

    Nielsen, J.E.; Jensen, L. Neerup; Krabbe, K.

    1995-01-01

    . A patient is reported with hereditary haemochromatosis and a syndrome of dementia, dysarthria, a slowly progressive gait disturbance, imbalance, muscle weakness, rigidity, bradykinesia, tremor, ataxia, and dyssynergia. The findings on MRI of a large signal decrease in the basal ganglia, consistent...

  14. Methods of Communication at End of Life for the Person with Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    Brownlee, Alisa; Bruening, Lisa M.

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results in loss of most motor functions by the time of death. Most persons with ALS experience a dysarthria that eventually renders oral/vocal communication unintelligible. This article reviews the communication needs of persons with ALS and the range of communication…

  15. The ALS-FTD-Q: A new screening tool for behavioral disturbances in ALS

    NARCIS (Netherlands)

    Raaphorst, J.; Beeldman, E.; Schmand, B.; Berkhout, J.; Linssen, W.H.J.P.; Van den Berg, L.H.; Pijnenburg, Y.A.L.; Grupstra, H.F.; Weikamp, J.G.; Schelhaas, H.J.; Papma, J.M.; van Swieten, J.C.; de Visser, M.; de Haan, R.J.

    2012-01-01

    Objective: The assessment of behavioral disturbances in amyotrophic lateral sclerosis (ALS) is important because of the overlap with the behavioral variant of frontotemporal dementia (ALS-bvFTD). Motor symptoms and dysarthria are not taken into account in currently used behavioral questionnaires. We

  16. The ALS-FTD-Q: a new screening tool for behavioural disturbances in ALS

    NARCIS (Netherlands)

    Raaphorst, J.; Beeldman, E.; Schmand, B.; Berkhout, J.; Linssen, W.H.J.P.; van den Berg, L.H.; Pijnenburg, Y.A.; Grupstra, H.F.; Weikamp, J.G.; Schelhaas, H.J.; Papma, J.M.; van Swieten, J.C.; de Visser, M.; de Haan, R.J.

    2012-01-01

    Objective: The assessment of behavioral disturbances in amyotrophic lateral sclerosis (ALS) is important because of the overlap with the behavioral variant of frontotemporal dementia (ALS-bvFTD). Motor symptoms and dysarthria are not taken into account in currently used behavioral questionnaires. We

  17. The ALS-FTD-Q A new screening tool for behavioral disturbances in ALS

    NARCIS (Netherlands)

    Raaphorst, Joost; Beeldman, Emma; Schmand, Ben; Berkhout, Joris; Linssen, Wim H. J. P.; van den Berg, Leonard H.; Pijnenburg, Yolande A.; Grupstra, Hepke F.; Weikamp, Janneke G.; Schelhaas, H. Jurgen; Papma, Janne M.; van Swieten, John C.; de Visser, Marianne; de Haan, Rob J.

    2012-01-01

    Objective: The assessment of behavioral disturbances in amyotrophic lateral sclerosis (ALS) is important because of the overlap with the behavioral variant of frontotemporal dementia (ALS-bvFTD). Motor symptoms and dysarthria are not taken into account in currently used behavioral questionnaires. We

  18. The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS

    NARCIS (Netherlands)

    Raaphorst, J.; Beeldman, E.; Schmand, B.A.; Berkhout, J.; Linssen, W.H.J.P.; Berg, L.H. van den; Pijnenburg, Y.A.; Grupstra, H.F.; Weikamp, J.G.; Schelhaas, H.J.; Papma, J.M.; van Swieten, J.C.; Visser, M. de; Haan, R.J. de

    2012-01-01

    OBJECTIVE: The assessment of behavioral disturbances in amyotrophic lateral sclerosis (ALS) is important because of the overlap with the behavioral variant of frontotemporal dementia (ALS-bvFTD). Motor symptoms and dysarthria are not taken into account in currently used behavioral questionnaires. We

  19. Wisdom tooth extraction causing lingual nerve and styloglossus muscle damage: a mimic of multiple cranial nerve palsies

    OpenAIRE

    Carr, A. S.; Evans, M.; Shah, S.; Catania, S.; Warren, J. D.; Gleeson, M. J.; Reilly, M. M.

    2017-01-01

    The combination of tongue hemianaesthesia, dysgeusia, dysarthria and dysphagia suggests the involvement of multiple cranial nerves. We present a case with sudden onset of these symptoms immediately following wisdom tooth extraction and highlight the clinical features that allowed localisation of the lesion to a focal, iatrogenic injury of the lingual nerve and adjacent styloglossus muscle.

  20. Provisional PDF Published March 24, 2010 Case report, Volume 4 ...

    African Journals Online (AJOL)

    cqq1a

    2010-03-24

    Mar 24, 2010 ... The patient was admitted after reporting a snake bite from which he later developed neurological signs and symptoms among which a flaccid dysarthria. The patient underwent speech therapy and showed significant improvement over a short period of time. The favorable outcome of the present study ...

  1. Speech Deterioration in Amyotrophic Lateral Sclerosis (ALS) after Manifestation of Bulbar Symptoms

    Science.gov (United States)

    Makkonen, Tanja; Ruottinen, Hanna; Puhto, Riitta; Helminen, Mika; Palmio, Johanna

    2018-01-01

    Background: The symptoms and their progression in amyotrophic lateral sclerosis (ALS) are typically studied after the diagnosis has been confirmed. However, many people with ALS already have severe dysarthria and loss of adequate speech at the time of diagnosis. Speech-and-language therapy interventions should be targeted timely based on…

  2. "The Caterpillar": A Novel Reading Passage for Assessment of Motor Speech Disorders

    Science.gov (United States)

    Patel, Rupal; Connaghan, Kathryn; Franco, Diana; Edsall, Erika; Forgit, Dory; Olsen, Laura; Ramage, Lianna; Tyler, Emily; Russell, Scott

    2013-01-01

    Purpose: A review of the salient characteristics of motor speech disorders and common assessment protocols revealed the need for a novel reading passage tailored specifically to differentiate between and among the dysarthrias (DYSs) and apraxia of speech (AOS). Method: "The Caterpillar" passage was designed to provide a contemporary, easily read,…

  3. Effects of Speaking Task on Intelligibility in Parkinson's Disease

    Science.gov (United States)

    Tjaden, Kris; Wilding, Greg

    2011-01-01

    Intelligibility tests for dysarthria typically provide an estimate of overall severity for speech materials elicited through imitation or read from a printed script. The extent to which these types of tasks and procedures reflect intelligibility for extemporaneous speech is not well understood. The purpose of this study was to compare…

  4. Speech changes after coordinative training in patients with cerebellar ataxia: a pilot study

    Czech Academy of Sciences Publication Activity Database

    Tykalová, T.; Pospíšilová, M.; Čmejla, R.; Jeřábek, J.; Mareš, Pavel; Rusz, J.

    2016-01-01

    Roč. 37, č. 2 (2016), s. 293-296 ISSN 1590-1874 Institutional support: RVO:67985823 Keywords : spinocerebellar ataxia * rehabilitation * physiotherapy * ataxic dysarthria * postural alignment * acoustic analysis Subject RIV: FH - Neurology Impact factor: 1.749, year: 2016

  5. Multiple Repair Sequences in Everyday Conversations Involving People with Parkinson's Disease

    Science.gov (United States)

    Griffiths, Sarah; Barnes, Rebecca; Britten, Nicky; Wilkinson, Ray

    2015-01-01

    Background: Features of dysarthria associated with Parkinson's disease (PD), such as low volume, variable rate of speech and increased pauses, impact speaker intelligibility. Those affected report restricted interactional participation, although this area is under explored. Aims: To examine naturally occurring instances of problems with…

  6. Speech–Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function

    Directory of Open Access Journals (Sweden)

    Julie M. Barkmeier-Kraemer

    2017-09-01

    Full Text Available Background: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech–language pathologists (SLPs play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations.Methods: A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar. Search terms included 1 hyperkinetic dysarthria, essential voice tremor, voice tremor, vocal tremor, spasmodic dysphonia, spastic dysphonia, oromandibular dystonia, Meige syndrome, orofacial, cervical dystonia, dystonia, dyskinesia, chorea, Huntington’s Disease, myoclonus; and evaluation/treatment terms: 2 Speech–Language Pathology, Speech Pathology, Evaluation, Assessment, Dysphagia, Swallowing, Treatment, Management, and diagnosis.Results: The standard SLP clinical speech and swallowing evaluation of chorea/Huntington’s disease, myoclonus, focal and segmental dystonia, and essential vocal tremor typically includes 1 case history; 2 examination of the tone, symmetry, and sensorimotor function of the speech structures during non-speech, speech and swallowing relevant activities (i.e., cranial nerve assessment; 3 evaluation of speech characteristics; and 4 patient self-report of the impact of their disorder on activities of daily living. SLP management of individuals with hyperkinetic dysarthria includes behavioral and compensatory strategies for addressing compromised speech and intelligibility. Swallowing disorders are managed based on individual symptoms and the underlying pathophysiology determined during evaluation.Discussion: SLPs play an important role in contributing to the differential diagnosis and management of impaired speech and

  7. Speech–Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function

    Science.gov (United States)

    Barkmeier-Kraemer, Julie M.; Clark, Heather M.

    2017-01-01

    Background Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech–language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations. Methods A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar. Search terms included 1) hyperkinetic dysarthria, essential voice tremor, voice tremor, vocal tremor, spasmodic dysphonia, spastic dysphonia, oromandibular dystonia, Meige syndrome, orofacial, cervical dystonia, dystonia, dyskinesia, chorea, Huntington’s Disease, myoclonus; and evaluation/treatment terms: 2) Speech–Language Pathology, Speech Pathology, Evaluation, Assessment, Dysphagia, Swallowing, Treatment, Management, and diagnosis. Results The standard SLP clinical speech and swallowing evaluation of chorea/Huntington’s disease, myoclonus, focal and segmental dystonia, and essential vocal tremor typically includes 1) case history; 2) examination of the tone, symmetry, and sensorimotor function of the speech structures during non-speech, speech and swallowing relevant activities (i.e., cranial nerve assessment); 3) evaluation of speech characteristics; and 4) patient self-report of the impact of their disorder on activities of daily living. SLP management of individuals with hyperkinetic dysarthria includes behavioral and compensatory strategies for addressing compromised speech and intelligibility. Swallowing disorders are managed based on individual symptoms and the underlying pathophysiology determined during evaluation. Discussion SLPs play an important role in contributing to the differential diagnosis and management of impaired speech and deglutition

  8. Speech in spinocerebellar ataxia.

    Science.gov (United States)

    Schalling, Ellika; Hartelius, Lena

    2013-12-01

    Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant cerebellar ataxias clinically characterized by progressive ataxia, dysarthria and a range of other concomitant neurological symptoms. Only a few studies include detailed characterization of speech symptoms in SCA. Speech symptoms in SCA resemble ataxic dysarthria but symptoms related to phonation may be more prominent. One study to date has shown an association between differences in speech and voice symptoms related to genotype. More studies of speech and voice phenotypes are motivated, to possibly aid in clinical diagnosis. In addition, instrumental speech analysis has been demonstrated to be a reliable measure that may be used to monitor disease progression or therapy outcomes in possible future pharmacological treatments. Intervention by speech and language pathologists should go beyond assessment. Clinical guidelines for management of speech, communication and swallowing need to be developed for individuals with progressive cerebellar ataxia. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Amnesic syndrome and severe ataxia following the recreational use of 3,4-methylene-dioxymethamphetamine (MDMA, 'ecstasy') and other substances.

    Science.gov (United States)

    Kopelman, M D; Reed, L J; Marsden, P; Mayes, A R; Jaldow, E; Laing, H; Isaac, C

    2001-01-01

    A 26-year-old woman suffered disseminated intravascular coagulation (DIC) and a brief respiratory arrest following recreational use of 3,4-methylene-dioxymethamphetamine (MDMA; 'ecstasy'), together with amyl nitrate, lysergic acid (LSD), cannabis and alcohol. She was left with residual cognitive and physical deficits, particularly severe anterograde memory disorder, mental slowness, severe ataxia and dysarthria. Follow-up investigations have shown that these have persisted, although there has been some improvement in verbal recognition memory and in social functioning. Magnetic resonance imaging and quantified positron emission tomography investigations have revealed: (i) severe cerebellar atrophy and hypometabolism accounting for the ataxia and dysarthria; (ii) thalamic, retrosplenial and left medial temporal hypometabolism to which the anterograde amnesia can be attributed; and (iii) some degree of fronto-temporal-parietal hypometabolism, possibly accounting for the cognitive slowness. The putative relationship of these abnormalities to the direct and indirect effects of MDMA toxicity, hypoxia and ischaemia is considered.

  10. Bilateral symmetrical low density areas in the basal ganglia

    International Nuclear Information System (INIS)

    Ugawa, Yoshikazu; Ihara, Yasuo

    1984-01-01

    We reported a case with dysarthria and gait disturbance, in which CT revealed symmetrical well-demarcated low density areas in the basal ganglia. The patient was a 43-year-old woman. Her family history and past history were not contributory. She had a little difficulty in speaking at the age of 17. Gait disturbance and micrographia appeared later. Although her expressionless face resembles to that seen in Parkinsonism, rigidity, akinesia and small-stepped gait were not present. The unclassified types of dysarthria and gait disturbance, which characterize the present case, were considered to be a kind of extrapyramidal symptoms, which were distinct from those of Parkinsonism. CT showed well demarcated low density areas predominantly in bilateral putamen. Metrizamide CT failed to show any communication between low density areas and subarachnoid spaces. To date, six cases, which presented similar clinical features and almost same CT findings as our case, were reported. (author)

  11. Vestibular stimulation after head injury: effect on reaction times and motor speech parameters

    DEFF Research Database (Denmark)

    Engberg, A

    1989-01-01

    Earlier studies by other authors indicate that vestibular stimulation may improve attention and dysarthria in head injured patients. In the present study of five severely head injured patients and five controls, the effect of vestibular stimulation on reaction times (reflecting attention) and some...... motor speech parameters (reflecting dysarthria) was investigated. After eight weeks with regular stimulation, it was concluded that reaction time changes were individual and consistent for a given subject. Only occasionally were they shortened after stimulation. However, reaction time was lengthened...... in three cases, prohibiting further stimulation in one case. Motion sickness was prohibitive in a second case. However, after-stimulation increase of phonation time and/or vital capacity was found in one patient and four controls. Oral diadochokinetic rates were slowed in several cases. Collectively, when...

  12. Delayed oedema in the pyramidal tracts remote from intracerebral missile path following gunshot injury

    Energy Technology Data Exchange (ETDEWEB)

    Thiex, R.; Uhl, E. [Department of Neurosurgery, Aachen University, Pauwelsstrasse 30, 52057, Aachen (Germany); Thron, A. [Department of Neuroradiology, Aachen University, Pauwelsstrasse 30, 52057, Aachen (Germany)

    2004-02-01

    A 60-year-old man developed a severe left hemiparesis and central facial palsy, accompanied by somnolence and dysarthria 9 days after a gunshot wound to the right temporal region, from which he slowly recovered over 3 months. MRI disclosed bilateral oedema of the pyramidal tracts. This was interpreted as a consequence of the impact of the pressure wave caused by the bullet, after excluding an infectious or vascular cause. (orig.)

  13. High Caloric Diet for ALS Patients: High Fat, High Carbohydrate or High Protein

    OpenAIRE

    Sarvin Sanaie; Ata Mahmoodpoor

    2015-01-01

    ALS is a fatal motor neurodegenerative disease characterized by muscle atrophy and weakness, dysarthria, and dysphagia. The mean survival of ALS patients is three to five years, with 50% of those diagnosed dying within three years of onset (1). A multidisciplinary approach is crucial to set an appropriate plan for metabolic and nutritional support in ALS. Nutritional management incorporates a continuous assessment and implementation of dietary modifications throughout the duration of the dise...

  14. Parapharyngeal branchial cleft cyst: a case report

    Directory of Open Access Journals (Sweden)

    Marcele Oliveira dos Santos

    2015-03-01

    Full Text Available A 30-year-old woman presented with a 2-year history of right-sided pharyngeal foreign body sensation. There were no signs of dysarthria, dysphagia, odynophagia, or dyspnea. On physical examination, we observed a fluctuant, painless mass in the oropharynx, pressing against the right lateral pharyngeal wall, covered with normal mucosa. Full examination of the head and neck, including cranial nerve evaluation, detected no further abnormalities.

  15. 48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

    OpenAIRE

    Zantour, Baha; Sfar, Mohamed Habib; Younes, Samia; Alaya, Wafa; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saida

    2010-01-01

    A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochon...

  16. Disartria e Qualidade de Vida em idosos neurologicamente sadios e pacientes com doença de Parkinson

    OpenAIRE

    Lirani-Silva, Camila; Mourão, Lúcia Figueiredo; Gobbi, Lilian Teresa Bucken

    2015-01-01

    PURPOSE: To compare the speech and voice of Parkinson's disease (PD) patients and neurologically healthy elderly adults (control group, CG), to find out whether these features are related to the disease or the normal aging process, and investigate the impact that dysarthria has on the Quality of Life (QoL) of these individuals. METHODS: This is a cross-sectional study involving 25 individuals, 13 patients with PD and 12 CG. All the participants underwent vocal assessment, perceptual and acous...

  17. Dysarthric Bengali speech: A neurolinguistic study

    Directory of Open Access Journals (Sweden)

    Chakraborty N

    2008-01-01

    Full Text Available Background and Aims: Dysarthria affects linguistic domains such as respiration, phonation, articulation, resonance and prosody due to upper motor neuron, lower motor neuron, cerebellar or extrapyramidal tract lesions. Although Bengali is one of the major languages globally, dysarthric Bengali speech has not been subjected to neurolinguistic analysis. We attempted such an analysis with the goal of identifying the speech defects in native Bengali speakers in various types of dysarthria encountered in neurological disorders. Settings and Design: A cross-sectional observational study was conducted with 66 dysarthric subjects, predominantly middle-aged males, attending the Neuromedicine OPD of a tertiary care teaching hospital in Kolkata. Materials and Methods: After neurological examination, an instrument comprising commonly used Bengali words and a text block covering all Bengali vowels and consonants were used to carry out perceptual analysis of dysarthric speech. From recorded speech, 24 parameters pertaining to five linguistic domains were assessed. The Kruskal-Wallis analysis of variance, Chi-square test and Fisher′s exact test were used for analysis. Results: The dysarthria types were spastic (15 subjects, flaccid (10, mixed (12, hypokinetic (12, hyperkinetic (9 and ataxic (8. Of the 24 parameters assessed, 15 were found to occur in one or more types with a prevalence of at least 25%. Imprecise consonant was the most frequently occurring defect in most dysarthrias. The spectrum of defects in each type was identified. Some parameters were capable of distinguishing between types. Conclusions: This perceptual analysis has defined linguistic defects likely to be encountered in dysarthric Bengali speech in neurological disorders. The speech distortion can be described and distinguished by a limited number of parameters. This may be of importance to the speech therapist and neurologist in planning rehabilitation and further management.

  18. Is the flumazenil administration diagnosis or treatment? Two case reports

    OpenAIRE

    YARDAN, Türker; ACAR, Ethem; AKDEMIR, Hızır Ufuk; BAYDIN, Ahmet; DURAN, Latif

    2014-01-01

    Benzodiazepine has the central nervous system (CNS), cardiac and respiratory side effects when intaked more than therapeutic doses. Acute benzodiazepine poisoning may be manifest taken in the form of dizziness, ataxia, nystagmus, dysarthria, hypoxia, hypothermia, hypotension, bradycardia, apnea, pulmonary aspiration, respiratory depression, coma, cardiopulmonary arrest and death. Alprazolam is the most toxic form of benzodiazepines and unless combined with the other CNS depressants such as ba...

  19. Pediatric traumatic brain injury: Language outcomes and their relationship to the arcuate fasciculus

    OpenAIRE

    Liégeois, Frédérique J.; Mahony, Kate; Connelly, Alan; Pigdon, Lauren; Tournier, Jacques-Donald; Morgan, Angela T.

    2013-01-01

    Pediatric traumatic brain injury (TBI) may result in long-lasting language impairments alongside dysarthria, a motor-speech disorder. Whether this co-morbidity is due to the functional links between speech and language networks, or to widespread damage affecting both motor and language tracts, remains unknown. Here we investigated language function and diffusion metrics (using diffusion-weighted tractography) within the arcuate fasciculus, the uncinate fasciculus, and the corpus callosum in 3...

  20. Pediatric traumatic brain injury: Language outcomes and their relationship to the arcuate fasciculus

    OpenAIRE

    Liégeois, F. J.; Mahony, K.; Connelly, A.; Tournier, J-D; Pigdon, L.; Morgan, A. T.

    2013-01-01

    Pediatric traumatic brain injury (TBI) may result in long-lasting language impairments alongside dysarthria, a motor-speech disorder. Whether this co-morbidity is due to the functional links between speech and language networks, or to widespread damage affecting both motor and language tracts, remains unknown.Here we investigated language function and diffusion metrics (using diffusion-weighted tractography) within the arcuate fasciculus, the uncinate fasciculus, and the corpus callosum in 32...

  1. Cerebral Ischemia versus MS in Young Adults Clinical Imaging Diagnosis Difficulties and Recovery Methods

    OpenAIRE

    Any DOCU-AXELERAD; Dan DOCU-AXELERAD

    2012-01-01

    Ischemia in young adults is often the result of non-atherosclerotic vasculopathies, cardiac embolism or clotting disorders. One third of young adults ischemic stroke etiology remains undetermined. Materials and methods: We present the case of a patient aged 42, diagnosed with probable MS without cardiovascular or metabolic risk factors, presented to our clinic for decrease of force at right limbs and recent dysarthria. Results and discussion: The history revealed recurrent episodes of right h...

  2. Postlingual deaf speech and the role of audition in speech production: comments on Waldstein's paper [R.S. Waldstein, J. Acoust. Soc. Am. 88, 2099-2114 (1990)].

    Science.gov (United States)

    Sapir, S; Canter, G J

    1991-09-01

    Using acoustic analysis techniques, Waldstein [J. Acoust. Soc. Am. 88, 2099-2114 (1990] reported abnormal speech findings in postlingual deaf speakers. She interpreted her findings to suggest that auditory feedback is important in motor speech control. However, it is argued here that Waldstein's interpretation may be unwarranted without addressing the possibility of neurologic deficits (e.g., dysarthria) as confounding (or even primary) causes of the abnormal speech in her subjects.

  3. Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention

    OpenAIRE

    Velleman, Shelley L.; Mervis, Carolyn B.

    2011-01-01

    7q11.23 duplication syndrome is a recently-documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Developmentally appropriate nonverbal pragmatic abilities are demonstrated in socially comfortable situations. Motor speech disorder (Childhood Apraxia of Speech and/or dysarthria), oral apraxia, and/or phonological disorder or symptoms of these disorders are common as are characteristics consis...

  4. Problematic topic transitions in dysarthric conversation.

    Science.gov (United States)

    Bloch, Steven; Saldert, Charlotta; Ferm, Ulrika

    2015-01-01

    This study examined the nature of topic transition problems associated with acquired progressive dysarthric speech in the everyday conversation of people with motor neurone disease. Using conversation analytic methods, a video collection of five naturally occurring problematic topic transitions was identified, transcribed and analysed. These were extracted from a main collection of over 200 other-initiated repair sequences and a sub-set of 15 problematic topic transition sequences. The sequences were analysed with reference to how the participants both identified and resolved the problems. Analysis revealed that topic transition by people with dysarthria can prove problematic. Conversation partners may find transitions problematic not only because of speech intelligibility but also because of a sequential disjuncture between the dysarthric speech turn and whatever topic has come prior. In addition the treatment of problematic topic transition as a complaint reveals the potential vulnerability of people with dysarthria to judgements of competence. These findings have implications for how dysarthria is conceptualized and how specific actions in conversation, such as topic transition, might be suitable targets for clinical intervention.

  5. Are Upper-Body Axial Symptoms a Feature of Early Parkinson’s Disease?

    Science.gov (United States)

    Moreau, Caroline; Baille, Guillaume; Delval, Arnaud; Tard, Céline; Perez, Thierry; Danel-Buhl, Nicolas; Seguy, David; Labreuche, Julien; Duhamel, Alain; Delliaux, Marie; Dujardin, Kathy; Defebvre, Luc

    2016-01-01

    Background Axial disorders are considered to appear late in the course of Parkinson’s disease (PD). The associated impact on quality of life (QoL) and survival and the lack of an effective treatment mean that understanding and treating axial disorders is a key challenge. However, upper-body axial disorders (namely dysarthria, swallowing and breathing disorders) have never been prospectively assessed in early-stage PD patients. Objectives To characterize upper-body axial symptoms and QoL in consecutive patients with early-stage PD. Methods We prospectively enrolled 66 consecutive patients with early-stage PD (less than 3 years of disease progression) and assessed dysarthria, dysphagia and respiratory function (relative to 36 controls) using both objective and patient-reported outcomes. Results The mean disease duration was 1.26 years and the mean UPDRS motor score was 19.4 out of 108. 74% of the patients presented slight dysarthria (primarily dysprosodia). Men appeared to be more severely affected (i.e. dysphonia). This dysfunction was strongly correlated with low swallowing speed (despite the absence of complaints about dysphagia), respiratory insufficiency and poor QoL. Videofluorography showed that oral-phase swallowing disorders affected 60% of the 31 tested patients and that pharyngeal-phase disorders affected 21%. 24% of the patients reported occasional dyspnea, which was correlated with anxiety in women but not in men. Marked diaphragmatic dysfunction was suspected in 42% of the patients (predominantly in men). Conclusion Upper body axial symptoms were frequent in men with early-stage PD, whereas women presented worst non-motor impairments. New assessment methods are required because currently available tools do not reliably detect these upper-body axial disorders. PMID:27654040

  6. Sensorimotor speech disorders in Parkinson's disease: Programming and execution deficits

    Directory of Open Access Journals (Sweden)

    Karin Zazo Ortiz

    Full Text Available ABSTRACT Introduction: Dysfunction in the basal ganglia circuits is a determining factor in the physiopathology of the classic signs of Parkinson's disease (PD and hypokinetic dysarthria is commonly related to PD. Regarding speech disorders associated with PD, the latest four-level framework of speech complicates the traditional view of dysarthria as a motor execution disorder. Based on findings that dysfunctions in basal ganglia can cause speech disorders, and on the premise that the speech deficits seen in PD are not related to an execution motor disorder alone but also to a disorder at the motor programming level, the main objective of this study was to investigate the presence of sensorimotor disorders of programming (besides the execution disorders previously described in PD patients. Methods: A cross-sectional study was conducted in a sample of 60 adults matched for gender, age and education: 30 adult patients diagnosed with idiopathic PD (PDG and 30 healthy adults (CG. All types of articulation errors were reanalyzed to investigate the nature of these errors. Interjections, hesitations and repetitions of words or sentences (during discourse were considered typical disfluencies; blocking, episodes of palilalia (words or syllables were analyzed as atypical disfluencies. We analysed features including successive self-initiated trial, phoneme distortions, self-correction, repetition of sounds and syllables, prolonged movement transitions, additions or omissions of sounds and syllables, in order to identify programming and/or execution failures. Orofacial agility was also investigated. Results: The PDG had worse performance on all sensorimotor speech tasks. All PD patients had hypokinetic dysarthria. Conclusion: The clinical characteristics found suggest both execution and programming sensorimotor speech disorders in PD patients.

  7. Real-time continuous visual biofeedback in the treatment of speech breathing disorders following childhood traumatic brain injury: report of one case.

    Science.gov (United States)

    Murdoch, B E; Pitt, G; Theodoros, D G; Ward, E C

    1999-01-01

    The efficacy of traditional and physiological biofeedback methods for modifying abnormal speech breathing patterns was investigated in a child with persistent dysarthria following severe traumatic brain injury (TBI). An A-B-A-B single-subject experimental research design was utilized to provide the subject with two exclusive periods of therapy for speech breathing, based on traditional therapy techniques and physiological biofeedback methods, respectively. Traditional therapy techniques included establishing optimal posture for speech breathing, explanation of the movement of the respiratory muscles, and a hierarchy of non-speech and speech tasks focusing on establishing an appropriate level of sub-glottal air pressure, and improving the subject's control of inhalation and exhalation. The biofeedback phase of therapy utilized variable inductance plethysmography (or Respitrace) to provide real-time, continuous visual biofeedback of ribcage circumference during breathing. As in traditional therapy, a hierarchy of non-speech and speech tasks were devised to improve the subject's control of his respiratory pattern. Throughout the project, the subject's respiratory support for speech was assessed both instrumentally and perceptually. Instrumental assessment included kinematic and spirometric measures, and perceptual assessment included the Frenchay Dysarthria Assessment, Assessment of Intelligibility of Dysarthric Speech, and analysis of a speech sample. The results of the study demonstrated that real-time continuous visual biofeedback techniques for modifying speech breathing patterns were not only effective, but superior to the traditional therapy techniques for modifying abnormal speech breathing patterns in a child with persistent dysarthria following severe TBI. These results show that physiological biofeedback techniques are potentially useful clinical tools for the remediation of speech breathing impairment in the paediatric dysarthric population.

  8. F-18 FDG PET findings for Vogt-Koyanagi-Harada disease

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hye Lim; Yoo, Ie Ryung; Park Sonya Young Ju [Dept. of of Radiology, Seoul St. Mary' s Hospital, College of MedicineThe Catholic University of Korea, Seoul (Korea, Republic of)

    2017-06-15

    Vogt-Koyanagi-Harada disease is a rare multisystemic granulomatous autoimmune disorder affecting pigmented tissues such as the choroid, meninges, inner ear, and the skin. Neurologic symptoms are usually mild. Clinical manifestations include generalized muscle weakness, headache, meningismus, vertigo, decreased visual acuity, hearing loss and mental changes ranging from mild confusion to psychosis, hemiparesis, dysarthria, and aphasia. Seizures are very rare. We describe a case of 18F-fluorodeoxyglucose (F-18 FDG) positron emission tomography (PET) and software-fused PET-magnetic resonance imaging (MRI) in Vogt-Koyanagi-Harada disease with seizure.

  9. [Hemiparesis and facial palsy caused by methotrexate].

    Science.gov (United States)

    Rueda Arenas, E; García Corzo, J; Franco Ospina, L

    2013-12-01

    Methotrexate used in the treatment of acute lymphocytic leukemia, can cause neurotoxicity, including a rare presentation with hemiparesis. We describe two teenagers, who during the implementation of the M phase of the protocol, suffered hemiparesis, facial paresis and dysarthria which quickly reversed. Leukemia involvement of the central nervous system and stroke, were ruled out. We briefly review the pathophysiology of methotrexate neurotoxicity, the characteristics of the focal paresis presentation and magnetic resonance image findings. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  10. Intracranial subdural hematoma after spinal anesthesia for cesarean section: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Uma Srivastava

    2014-01-01

    Full Text Available Subdural hematoma (SDH is a rare but serious complication of spinal anesthesia. We report a case of intracranial SDH in a patient developing 11 days after spinal anesthesia for cesarean section. The patient complained of headache on the 2nd post-operative day that was relieved by analgesics, bed rest and hydration. Later she presented with severe headache, vomiting, dizziness, dysarthria, irritability and somnolence. Diagnosis of the left sided SDH was confirmed radiologically and treated surgically. The patient recovered completely. The report highlights the need of considering the possibility of SDH in patients when postdural puncture headache is prolonged or recurs after a headache free period with neurological symptoms.

  11. Brain abscess mimicking lung cancer metastases; a case report.

    Science.gov (United States)

    Asano, Michiko; Fujimoto, Nobukazu; Fuchimoto, Yasuko; Ono, Katsuichiro; Ozaki, Shinji; Kimura, Fumiaki; Kishimoto, Takumi

    2013-01-01

    A 76-year-old woman came to us because of staggering, fever, dysarthria, and appetite loss. Magnetic resonance imaging (MRI) of the brain revealed multiple masses with surrounding edema. Chest X-ray and computed tomography demonstrated a mass-like lesion in the left lung and left pleural effusion. Lung cancer and multiple brain metastases were suspected. However, the brain lesions demonstrated a high intensity through diffusion-weighted MRI. The finding was an important key to differentiate brain abscesses from lung cancer metastases. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Exploding Head Syndrome as Aura of Migraine with Brainstem Aura: A Case Report.

    Science.gov (United States)

    Rossi, Fabian H; Gonzalez, Elizabeth; Rossi, Elisa Marie; Tsakadze, Nina

    2018-01-01

    This article reports a case of exploding head syndrome (EHS) as an aura of migraine with brainstem aura (MBA). A middle-aged man presented with intermittent episodes of a brief sensation of explosion in the head, visual flashing, vertigo, hearing loss, tinnitus, confusion, ataxia, dysarthria, and bilateral visual impairment followed by migraine headache. The condition was diagnosed as MBA. Explosive head sensation, sensory phenomena, and headaches improved over time with nortriptyline. This case shows that EHS can present as a primary aura symptom in patients with MBA.

  13. Reorganização prosódica na disartria

    Directory of Open Access Journals (Sweden)

    Erica Reviglio Iliovitz

    2014-03-01

    Full Text Available According to Felizatti (1998, dysarthria is a disorder in motor production that affects patterns of movement, coordination and strenght of articulatory organs. It can be caused by brain damage and it is usually characterized by slow speech. The analysis of some prosodic aspects of almost unintelligible dysarthric patients’speech indicates that the strange reaction their speech causes in their listeners is mainly due to the prosodic strategies they use (consciouslly or not to improve their oral language intelligibility.In other words, despite the fact that dysarthric patients’s brain lesions cause articulatory difficulties, they are able to compensate them through prosody.

  14. F-18 FDG PET findings for Vogt-Koyanagi-Harada disease

    International Nuclear Information System (INIS)

    Park, Hye Lim; Yoo, Ie Ryung; Park Sonya Young Ju

    2017-01-01

    Vogt-Koyanagi-Harada disease is a rare multisystemic granulomatous autoimmune disorder affecting pigmented tissues such as the choroid, meninges, inner ear, and the skin. Neurologic symptoms are usually mild. Clinical manifestations include generalized muscle weakness, headache, meningismus, vertigo, decreased visual acuity, hearing loss and mental changes ranging from mild confusion to psychosis, hemiparesis, dysarthria, and aphasia. Seizures are very rare. We describe a case of 18F-fluorodeoxyglucose (F-18 FDG) positron emission tomography (PET) and software-fused PET-magnetic resonance imaging (MRI) in Vogt-Koyanagi-Harada disease with seizure

  15. On the intersection of phonetic detail and the organization of interaction: clinical connections.

    Science.gov (United States)

    Walker, Gareth; Local, John

    2013-01-01

    The analysis of language use in real-world contexts poses particular methodological challenges. We codify responses to these challenges as a series of methodological imperatives. To demonstrate the relevance of these imperatives to clinical investigation, we present analyses of single episodes of interaction where one participant has a speech and/or language impairment: atypical prosody, echolalia and dysarthria. We demonstrate there is considerable heuristic and analytic value in taking this approach to analysing the organization of interaction involving individuals with a speech and/or language impairment.

  16. Painless Legs and Moving Toes as an Initial Presentation of Ischemic Stroke

    Directory of Open Access Journals (Sweden)

    Se Mi Oh

    2009-05-01

    Full Text Available Painless legs and moving toes is an unusual syndrome, which has not previously been reported as an initial presentation of ischemic stroke. We encountered a 78-year-old woman who developed dysarthria and involuntary movement of her left toes that was clinically regarded as painless legs and moving toes. These symptoms appeared abruptly and simultaneously as the initial symptoms of stroke, and improved gradually with conservative management by intravenous hydration for a month. We suggest that, in our case, a cortical brain lesion caused by ischemic stroke might be associated with the development of painless legs and moving toes.

  17. Cardiac Fibroelastoma: A Rare Cause of Stroke in Young Adults

    Directory of Open Access Journals (Sweden)

    Ahmad Mirdamadi

    2013-01-01

    Full Text Available A 26-year-old man presenting with a transient episode of dysarthria and dizziness, 3 weeks prior to admission, was referred to our center to be evaluated for transient ischemic attack (TIA. The patient had been previously admitted to a different hospital and echocardiography was reported normal at that center, but upon presenting to our institution strand-like masses in the left ventricle (LV were detected. Transesophageal echocardiography (TEE revealed two distinct mobile LV masses suggesting a diagnosis of papillary fibroelastoma. CT angiography and histopathological studies confirmed this diagnosis.

  18. Central neurotoxicity of immunomodulatory drugs in multiple myeloma

    Directory of Open Access Journals (Sweden)

    Urmeel H. Patel

    2015-03-01

    Full Text Available Immunomodulatory drugs (IMiDs currently used in the treatment of multiple myeloma, are thalidomide, lenalidomide and pomalidomide. One of the most common side effects of thalidomide is neurotoxicity, predominantly in the form of peripheral neuropathy. We report 6 cases of significant central neurotoxicity associated with IMiD therapy. Treatment with thalidomide (1 patient, lenalidomide (4 patients, and pomalidomide (1 patient was associated with various clinical manifestations of central neurotoxicity, including reversible coma, amnesia, expressive aphasia, and dysarthria. Central neurotoxicity should be recognized as an important side effect of IMiD therapy.

  19. Central neurotoxicity of immunomodulatory drugs in multiple myeloma.

    Science.gov (United States)

    Patel, Urmeel H; Mir, Muhammad A; Sivik, Jeffrey K; Raheja, Divisha; Pandey, Manoj K; Talamo, Giampaolo

    2015-02-24

    Immunomodulatory drugs (IMiDs) currently used in the treatment of multiple myeloma, are thalidomide, lenalidomide and pomalidomide. One of the most common side effects of thalidomide is neurotoxicity, predominantly in the form of peripheral neuropathy. We report 6 cases of significant central neurotoxicity associated with IMiD therapy. Treatment with thalidomide (1 patient), lenalidomide (4 patients), and pomalidomide (1 patient) was associated with various clinical manifestations of central neurotoxicity, including reversible coma, amnesia, expressive aphasia, and dysarthria. Central neurotoxicity should be recognized as an important side effect of IMiD therapy.

  20. Clinical and electrodiagnostic findings in cyhalothrine poisoning

    Directory of Open Access Journals (Sweden)

    Keivan Basiri

    2016-01-01

    Full Text Available Acute onset bulbar symptoms with respiratory failure and descending paralysis may occur in several neuromuscular disorders including variants of Guillain-Barre syndrome (GBS, diphtheria, botulism and toxins. We present a 51-year-old man who presented with complains of ptosis and dyspnea following pyrethroids spraying in an enclosed area for eradication of flea. Within 5-6 days of admission limb weakness, dysphagia, dysarthria, blurred vision, diplopia, tremor and respiratory distress added to previous symptoms. Temporal profile of events after exposure, development of similar symptoms in patient's son, electrodiagnostic findings and exclusion of other etiologies confirms intoxication etiology. We reviewed the literature and provide an extensive electrodiagnostic overview.

  1. Isolated lingual involvement in Wilson′s disease

    Directory of Open Access Journals (Sweden)

    Neera Choudhary

    2015-01-01

    Full Text Available Lingual involvement can occur in a variety of neurological disorders including pyramidal, extrapyramidal and lower motor neuron disorders. It can be seen in the form of tremor, bradykinesia, dystonia, atrophy and weakness of tongue movements and can clinically present as difficulty in swallowing and dysarthria which can be a source of great discomfort to the patient. We describe a patient who presented with isolated lingual involvement and was diagnosed to have Wilsons′s disease. This case emphasizes the clinical variability in presentation of Wilson′s disease and importance of early clinical diagnosis.

  2. Wisdom tooth extraction causing lingual nerve and styloglossus muscle damage: a mimic of multiple cranial nerve palsies.

    Science.gov (United States)

    Carr, Aisling S; Evans, Matthew; Shah, Sachit; Catania, Santi; Warren, Jason D; Gleeson, Michael J; Reilly, Mary M

    2017-06-01

    The combination of tongue hemianaesthesia, dysgeusia, dysarthria and dysphagia suggests the involvement of multiple cranial nerves. We present a case with sudden onset of these symptoms immediately following wisdom tooth extraction and highlight the clinical features that allowed localisation of the lesion to a focal, iatrogenic injury of the lingual nerve and adjacent styloglossus muscle. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  3. Hallervorden-Spatz disease: 2 cases of siblings

    International Nuclear Information System (INIS)

    Song, Jong Gi; Kim, In One; Kim, Woo Sun; Yeon, Kyung Mo

    1994-01-01

    We report two patients with Hallervorden-Spatz disease, who were diagnosed by same MR findings of marked low signal intensity in the globus and substantia nigra. They presented with ataxic and spastic gait, intention tremor, delayed mental development, and dysarthria. They were 7 year-old male and 8 year-old female siblings, who were healthy until 3 years of age when they suffered from progressive symptoms. T2-weighted images showed marked low signal intensity in the globus pallidus and substantia nigra indicating an increased iron deposition, and it might suggest Hallervorden-Spatz disease

  4. Primaer cerebral vaskulitis hos børn

    DEFF Research Database (Denmark)

    Pradsgaard, Dan Østergaard; Stausbøl-Grøn, Brian; Østergaard, John Rosendahl

    2010-01-01

    , in the absence of other known diseases with these findings. MATERIAL AND METHODS: We performed a retrospective review of children below 15 years submitted with CNS vasculitis to the department between 1999 and 2008. RESULTS: Six (two boys, four girls) of ten children with clinical and vascular imaging findings...... detected by magnetic resonance were diagnosed with primary CNS vasculitis. Age at onset was three to 12 years. Acutely acquired hemiparesis was seen in five children, two had facial palsy. Among other symptoms were headache, ataxia, dysarthria, loss of consciousness and seizures. Only modest changes...

  5. A pernicious leucoencephalopathy.

    LENUS (Irish Health Repository)

    Molloy, A

    2012-02-01

    Pernicious anaemia may manifest various neurological symptoms and signs ranging from the subtle to the dramatic. We describe a young man with cobalamin deficiency presenting with sensorimotor deficits, ataxia, dysarthria, mild cognitive deterioration and altered mood of insidious onset. The MRI brain findings were in keeping with a leucoencephalopathy without evidence of MRI changes in the spinal cord. This constellation of features has been reported rarely. His response to treatment as well as the marked improvement of the leucoencephalopathy on imaging suggests at least partial reversibility of the neurological deficits.

  6. Radiation necrosis of the optic chiasm, optic tract, hypothalamus, and upper pons after radiotherapy for pituitary adenoma, detected by gadolinium-enhanced, T1-weighted magnetic resonance imaging: Case report

    International Nuclear Information System (INIS)

    Tachibana, O.; Yamaguchi, N.; Yamashima, T.; Yamashita, J.

    1990-01-01

    A 26-year-old woman was treated for a prolactin secreting pituitary adenoma by surgery and radiotherapy (5860 rads). Fourteen months later, she developed right hemiparesis and dysarthria. A T1-weighted magnetic resonance imaging scan using gadolinium contrast showed a small, enhanced lesion in the upper pons. Seven months later, she had a sudden onset of loss of vision, and radiation optic neuropathy was diagnosed. A T1-weighted magnetic resonance imaging scan showed widespread gadolinium-enhanced lesions in the optic chiasm, optic tract, and hypothalamus. Magnetic resonance imaging is indispensable for the early diagnosis of radiation necrosis, which is not visualized by radiography or computed tomography

  7. Auditory-perceptual speech analysis in children with cerebellar tumours: a long-term follow-up study.

    Science.gov (United States)

    De Smet, Hyo Jung; Catsman-Berrevoets, Coriene; Aarsen, Femke; Verhoeven, Jo; Mariën, Peter; Paquier, Philippe F

    2012-09-01

    Mutism and Subsequent Dysarthria (MSD) and the Posterior Fossa Syndrome (PFS) have become well-recognized clinical entities which may develop after resection of cerebellar tumours. However, speech characteristics following a period of mutism have not been documented in much detail. This study carried out a perceptual speech analysis in 24 children and adolescents (of whom 12 became mute in the immediate postoperative phase) 1-12.2 years after cerebellar tumour resection. The most prominent speech deficits in this study were distorted vowels, slow rate, voice tremor, and monopitch. Factors influencing long-term speech disturbances are presence or absence of postoperative PFS, the localisation of the surgical lesion and the type of adjuvant treatment. Long-term speech deficits may be present up to 12 years post-surgery. The speech deficits found in children and adolescents with cerebellar lesions following cerebellar tumour surgery do not necessarily resemble adult speech characteristics of ataxic dysarthria. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  8. Communicative aspects and coping strategies in patients with Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Flávia Pereira da Costa

    2014-06-01

    Full Text Available Purpose: To investigate in patients with Parkinson's disease (PD, which are the coping strategies used and the relation between type of coping, voice symptoms and communicative aspects. Method: 73 subjects, 33 in the experimental group, with diagnosis of PD, and 40 subjects in the control group, healthy and without vocal complaints. They underwent the following procedures: application of the Voice Symptons Scale – VoiSS – Brazilian Version, Voice Disability Coping Questionnaire – VDCQ – Brazilian Version, and the questionnaire Living with Dysarthria – LwD. Results: The experimental group showed deviations in all protocols: VDCQ (p<0.001, VoiSS (p<0.001, LwD (p<0.001. The most frequently used coping strategy was self-control (p<0.001. The correlation between vocal symptoms and communicative aspects showed that the greater the impairment in communication, the greater the VoiSS emotional scores and the greater will be the amount of voice symptoms and signs. However, the vocal signs and symptoms and communicative aspects showed no correlation with coping. Conclusion: Patients with PD have a high amount of vocal signs and symptoms and the higher the occurrence, the more the patient reports being difficult to live with dysarthria, particularly when there are deviations in the emotional domain.

  9. Communicative aspects and coping strategies in patients with Parkinson's disease.

    Science.gov (United States)

    Costa, Flávia Pereira da; Diaféria, Giovana; Behlau, Mara

    2016-01-01

    To investigate, in patients with Parkinson's disease (PD), the coping strategies; the most reported vocal symptoms; and the relation between coping, voice symptoms, and communicative aspects. Seventy-three subjects were included in the sample, 33 of which were participants in the experimental group (EG) with diagnosis of PD and 40 were control subjects, that is, healthy and without vocal complaints. They underwent the following procedures: application of Voice Symptoms Scale (VoiSS), Brazilian Version; Voice Disability Coping Questionnaire (VDCQ), Brazilian Version; and the questionnaire Living with Dysarthria (LwD). The EG presented deviations in all protocols: VDCQ, with the most frequently coping strategy being "self-control," VoiSS, with "Impairment" as the most prevalent domain, and LwD, presenting changes in all sections. Vocal signs and symptoms and communicative aspects were shown to have a regular correlation with coping. The correlation between vocal symptoms and communicative aspects was as follows: the greater the impairment in communication, the greater the VoiSS emotional scores and the more they complaint of voice-related signs and symptoms. Patients with PD use all kinds of coping strategies, but prefer using self-control. They present several vocal signs and symptoms, and "Impairment" was the most prevalent domain. There are difficulties in all aspects of communication. The higher the occurrence of vocal signs and symptoms, the more the patient reports the difficulties of living with dysarthria, particularly when deviations affect the emotional domain.

  10. Stroke as the First Clinical Manifestation of Takayasu's Arteritis.

    Science.gov (United States)

    Pereira, Vanessa Caldeira; de Freitas, Carlos Clayton Macedo; Luvizutto, Gustavo José; Sobreira, Marcone Lima; Peixoto, Daniel Escobar Bueno; Magalhães, Inaldo do Nascimento; Bazan, Rodrigo; Braga, Gabriel Pereira

    2014-09-01

    Takayasu's arteritis is a chronic inflammatory disease, and neurological symptoms occur in 50% of cases, most commonly including headache, dizziness, visual disturbances, convulsive crisis, transient ischemic attack, stroke and posterior reversible encephalopathy syndrome. The aim of this study was to report the case of a young Brazilian female with a focal neurological deficit. She presented with asymmetry of brachial and radial pulses, aphasia, dysarthria and right hemiplegia. Stroke was investigated extensively in this young patient. Only nonspecific inflammatory markers such as velocity of hemosedimentation and C-reactive protein were elevated. During hospitalization, clinical treatment was performed with pulse therapy showing improvement in neurological recuperation on subsequent days. In the chronic phase, the patient was submitted to medicated angioplasty of the brachiocephalic trunk with paclitaxel, with significant improvement of the stenosis. At the 6-month follow-up, the neurological exam presented mild dysarthria, faciobrachial predominant disproportionate hemiparesis, an NIHSS score of 4 and a modified Rankin Scale score of 3 (moderate incapacity). In conclusion, Takayasu's arteritis must be recognized as a potential cause of ischemic stroke in young females.

  11. A Comparative Study on Laryngeal Aerodynamics in Dysarthrophonic versus Normophonic Male Subjects

    Directory of Open Access Journals (Sweden)

    Indranil Chatterjee

    2016-08-01

    Full Text Available Introduction Dysarthria is a motor speech disorder.  It occurs due to paralysis, weakness, or incoordination of the speech musculature. The authors with this study want to enrich clinical understanding of the difference of the aerodynamic characteristics in normophonic and dysarthric population. Materials and method The aerodynamic characteristics in normophonics and in dysarthric population were compared and documented using Voice Function Analyzer (Aerophone II®. Forty male individuals within the age range of thirty five to fifty five years participated in this study. The control group   had twenty normophonic cases with no history of neurological disorder. The second group had twenty cases with dysarthria. Result Significant difference was found between the two groups in peak flow, forced volume and duration, vital capacity and fast adduction-abduction measurements. Discussion The difference in results from both the groups and their implications are discussed based on these findings. Conclusion The present study has assessed the parameters of speech and voice disorder in male dysarthric individuals. It suggests inclusion of aerodynamic measurement in test protocol and for evidence based research and prognosis documentation. Measurement of laryngeal or vocal tract resistance may be useful in documenting a variety of the perceptual voice characteristics.

  12. October 2016 critical care case of the month

    Directory of Open Access Journals (Sweden)

    Fountain S

    2016-09-01

    Full Text Available No abstract available. Article truncated after first 150 words. A 27-year-old Caucasian man with past medical history of opioid abuse (reportedly sober for 10 years on buprenorphine, post traumatic stress disorder, depression and anxiety presented to the emergency department complaining of dysarthria after taking diphenhydramine and meclizine in addition to his prescribed trazodone and buprenorphine to try to sleep. He was discharged to home after his symptoms appeared to improve with intravenous fluid. He returned to the emergency department the following afternoon with worsening dysarthria, dysphagia, and subjective weakness. The patient was non toxic appearing, afebrile, vital signs were stable and his strength was reported as 5/5. Computed tomography of his head did not show any evidence of acute intracranial abnormality. Given his ongoing complaints, he was admitted for observation to the general medicine wards. That night a rapid response was initiated when the nurse found the patient to be unresponsive, but spontaneously breathing. The patient’s clinical status did ...

  13. Effect of Deep Brain Stimulation on Speech Performance in Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Sabine Skodda

    2012-01-01

    Full Text Available Deep brain stimulation (DBS has been reported to be successful in relieving the core motor symptoms of Parkinson's disease (PD and motor fluctuations in the more advanced stages of the disease. However, data on the effects of DBS on speech performance are inconsistent. While there are some series of patients documenting that speech function was relatively unaffected by DBS of the nucleus subthalamicus (STN, other investigators reported on improvements of distinct parameters of oral control and voice. Though, these ameliorations of single speech modalities were not always accompanied by an improvement of overall speech intelligibility. On the other hand, there are also indications for an induction of dysarthria as an adverse effect of STN-DBS occurring at least in some patients with PD. Since a deterioration of speech function has more often been observed under high stimulation amplitudes, this phenomenon has been ascribed to a spread of current-to-adjacent pathways which might also be the reason for the sporadic observation of an onset of dysarthria under DBS of other basal ganglia targets (e.g., globus pallidus internus/GPi or thalamus/Vim. The aim of this paper is to review and evaluate reports in the literature on the effects of DBS on speech function in PD.

  14. Effect of edaravone on acute brainstem-cerebellar infarction with vertigo and sudden hearing loss.

    Science.gov (United States)

    Inoue, Yuta; Yabe, Takao; Okada, Kazunari; Nakamura, Yuka

    2014-06-01

    We report 2 cases with acute brainstem and brainstem-cerebellar infarction showed improvement of their signs and symptoms after administration of edaravone. Case 1, a 74-year-old woman who experienced sudden vertigo, also had dysarthria and left hemiplegia. Magnetic resonance imaging (MRI) showed an abnormal region in the right ventrolateral medulla oblongata. The patient's vertigo and hemiplegia improved completely after treatment. Case 2, a 50-year-old man who experienced sudden vertigo and sensorineural hearing loss (SNHL), developed dysarthria after admission. MRI revealed acute infarction in the right cerebellar hemisphere. Magnetic resonance angiography revealed dissection of the basilar artery and occlusion of the right anterior inferior cerebellar artery. The patient's vertigo and hearing remarkably improved. We have described 2 patients whose early symptoms were vertigo and sudden SNHL, but who were later shown to have ischemic lesions of the central nervous system. Edaravone is neuroprotective drug with free radical-scavenging actions. Free radicals in the ear are responsible for ischemic damage. Edaravone, a free radical scavenger, may be useful in the treatment of vertigo and SNHL. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  15. [Tapia's syndrome following transesophageal echocardiography during an open-heart operation: a case report].

    Science.gov (United States)

    Fujiwara, Satoru; Yoshimura, Hajime; Nishiya, Kenta; Oshima, Keiichi; Kawamoto, Michi; Kohara, Nobuo

    2017-12-27

    A 67-year-old man presented with hoarseness, dysarthria and deviation of the tongue to the left side the day after the open-heart operation under general anesthesia. Brain MRI demonstrated no causal lesion, and laryngoscope showed left vocal cord abductor palsy, so we diagnosed him with Tapia's syndrome (i.e., concomitant paralysis of the left recurrent and hypoglossal nerve). His neurological symptoms recovered gradually and improved completely four months after the onset. Tapia's syndrome is a rare condition caused by the extra cranial lesion of the recurrent laryngeal branch of the vagus nerve and the hypoglossal nerve, and mostly described as a complication of tracheal intubation. In this case, transesophageal echo probe has been held in the left side of the pharynx, so compression to the posterior wall of pharynx by the probe resulted in this condition, and to the best of our knowledge, this is the first report of Tapia's syndrome due to transesophageal echocardiography during an open-heart operation. This rare syndrome should be considered as a differential diagnosis of dysarthria and tongue deviation after a procedure associated with compression to the pharynx.

  16. The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.

    Science.gov (United States)

    Al-Mateen, Majeed; Craig, Alexa Kanwit; Chance, Phillip F

    2014-03-01

    We describe 2 patients with X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) disease and central nervous system manifestations and review 19 cases from the literature. Our first case had not been previously diagnosed with Charcot-Marie-Tooth disease, and the second case, although known to have Charcot-Marie-Tooth disease, was suspected of having CMTX1 after presentation with central nervous system manifestations. The most common central nervous system manifestations were transient and included dysarthria, ataxia, hemiparesis, and tetraparesis resembling periodic paralysis. Of the 21 patients, 19 presented at 21 years of age or younger, implicating CMTX1 with transient central nervous system manifestations as a disorder that predominantly affects children and adolescents. CMTX1 should be included in the differential diagnosis of patients who present with transient central nervous system phenomena, including stroke-like episodes, tetraparesis suggestive of periodic paralysis, dysarthria, ataxia, or combinations of these deficits. Reversible, bilateral, nonenhancing white matter lesions and restricted diffusion on magnetic resonance imaging are characteristic features of the central nervous system phenotype of CMTX1.

  17. Electropalatographic (EPG) assessment of tongue-to-palate contacts in dysarthric speakers following TBI.

    Science.gov (United States)

    Kuruvilla, Mili S; Murdoch, Bruce E; Goozee, Justine V

    2008-09-01

    The aim of the investigation was to compare EPG-derived spatial and timing measures between a group of 11 dysarthric individuals post-severe TBI and 10 age- and sex-matched neurologically non-impaired individuals. Participants of the TBI group were diagnosed with dysarthria ranging from mild-to-moderate-severe dysarthria. Each participant from the TBI and comparison group was fitted with a custom-made artificial acrylic palate that recorded lingual palatal contact during target consonant production in sentence- and syllable-repetition tasks at a habitual rate and loudness level. Analysis of temporal parameters between the comparison and TBI groups revealed prolonged durations of the various phases of consonant production, which were attributed to articulatory slowness, impaired speech motor control, impaired accuracy, and impaired coordination of articulatory movements in the dysarthric speakers post-TBI. For the spatial measurements, quantitative analysis, as well as visual inspection of the tongue-to-palate contact diagrams, indicated spatial aberrations in dysarthric speech post-TBI. Both the spatial and temporal aberrations may have at least partially caused the perceptual judgement of articulatory impairments in the dysarthric speakers.

  18. Assessing the Believability of Standardized Patients Trained to Portray Communication Disorders

    Science.gov (United States)

    Burns, Michael I.; Struijk, Jennie; Herron, Lindsay; Mach, Helen; Yorkston, Kathryn

    2017-01-01

    Purpose The purpose of this study was to evaluate the believability of standardized patients portraying individuals with communication disorders as part of a larger study in which standardized patients help train medical and allied health students about communication disorders. Method Two women portrayed persons with aphasia, and 2 men depicted persons with dysarthria associated with Parkinson's disease. Two stakeholder groups rated believability. Speech-language pathologists rated believability of videos online. Persons with aphasia rated aphasia videos during in-person sessions with the researchers. Results Targeted believability was 80 or higher (0–100 scale; 0 = not at all believable, 100 = very believable). For speech-language pathologist raters, average ratings met the target for the portrayals of the aphasia characteristics of word-finding problems, agrammaticism, nonverbal communication, and overall portrayal but not for auditory comprehension problems. Targets for the portrayals were met for the dysarthria characteristics of reduced speech movements, reduced loudness, reduced intonation, flat affect, and overall portrayal but not for speech rate. Ratings for different standardized patients portraying the same case were not significantly different from each other on most characteristics. Ratings from persons with aphasia were highly variable. Conclusion Standardized patients who do not have communication disorders can portray disorder characteristics in a believable manner. PMID:28595263

  19. A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

    DEFF Research Database (Denmark)

    Puschmann, Andreas; Ross, Owen A; Vilariño-Güell, Carles

    2009-01-01

    A de novo alpha-synuclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cog......A de novo alpha-synuclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria......) and the Greek-American Family H kindreds. One unaffected family member carried the mutation haplotype without the c.209A mutation, strongly suggesting its de novo occurrence within this family. Furthermore, a novel mutation c.488G > A (p.Arg163His; R163H) in the presenilin-2 (PSEN2) gene was detected...

  20. Characteristics of motor speech phenotypes in multiple sclerosis.

    Science.gov (United States)

    Rusz, Jan; Benova, Barbora; Ruzickova, Hana; Novotny, Michal; Tykalova, Tereza; Hlavnicka, Jan; Uher, Tomas; Vaneckova, Manuela; Andelova, Michaela; Novotna, Klara; Kadrnozkova, Lucie; Horakova, Dana

    2018-01-01

    Motor speech disorders in multiple sclerosis (MS) are poorly understood and their quantitative, objective acoustic characterization remains limited. Additionally, little data regarding relationships between the severity of speech disorders and neurological involvement in MS, as well as the contribution of pyramidal and cerebellar functional systems on speech phenotypes, is available. Speech data were acquired from 141 MS patients with Expanded Disability Status Scale (EDSS) ranging from 1 to 6.5 and 70 matched healthy controls. Objective acoustic speech assessment including subtests on phonation, oral diadochokinesis, articulation and prosody was performed. The prevalence of dysarthria in our MS cohort was 56% while the severity was generally mild and primarily consisted of a combination of spastic and ataxic components. Prosodic-articulatory disorder presenting with monopitch, articulatory decay, excess loudness variations and slow rate was the most salient. Speech disorders reflected subclinical motor impairment with 78% accuracy in discriminating between a subgroup of asymptomatic MS (EDSS oral diadochokinesis and the 9-Hole Peg Test (r = - 0.65, p oral diadochokinesis and excess loudness variations significantly separated pure pyramidal and mixed pyramidal-cerebellar MS subgroups. Automated speech analyses may provide valuable biomarkers of disease progression in MS as dysarthria represents common and early manifestation that reflects disease disability and underlying pyramidal-cerebellar pathophysiology. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Alternative Speech Communication System for Persons with Severe Speech Disorders

    Science.gov (United States)

    Selouani, Sid-Ahmed; Sidi Yakoub, Mohammed; O'Shaughnessy, Douglas

    2009-12-01

    Assistive speech-enabled systems are proposed to help both French and English speaking persons with various speech disorders. The proposed assistive systems use automatic speech recognition (ASR) and speech synthesis in order to enhance the quality of communication. These systems aim at improving the intelligibility of pathologic speech making it as natural as possible and close to the original voice of the speaker. The resynthesized utterances use new basic units, a new concatenating algorithm and a grafting technique to correct the poorly pronounced phonemes. The ASR responses are uttered by the new speech synthesis system in order to convey an intelligible message to listeners. Experiments involving four American speakers with severe dysarthria and two Acadian French speakers with sound substitution disorders (SSDs) are carried out to demonstrate the efficiency of the proposed methods. An improvement of the Perceptual Evaluation of the Speech Quality (PESQ) value of 5% and more than 20% is achieved by the speech synthesis systems that deal with SSD and dysarthria, respectively.

  2. Rhythm Perception and Its Role in Perception and Learning of Dysrhythmic Speech.

    Science.gov (United States)

    Borrie, Stephanie A; Lansford, Kaitlin L; Barrett, Tyson S

    2017-03-01

    The perception of rhythm cues plays an important role in recognizing spoken language, especially in adverse listening conditions. Indeed, this has been shown to hold true even when the rhythm cues themselves are dysrhythmic. This study investigates whether expertise in rhythm perception provides a processing advantage for perception (initial intelligibility) and learning (intelligibility improvement) of naturally dysrhythmic speech, dysarthria. Fifty young adults with typical hearing participated in 3 key tests, including a rhythm perception test, a receptive vocabulary test, and a speech perception and learning test, with standard pretest, familiarization, and posttest phases. Initial intelligibility scores were calculated as the proportion of correct pretest words, while intelligibility improvement scores were calculated by subtracting this proportion from the proportion of correct posttest words. Rhythm perception scores predicted intelligibility improvement scores but not initial intelligibility. On the other hand, receptive vocabulary scores predicted initial intelligibility scores but not intelligibility improvement. Expertise in rhythm perception appears to provide an advantage for processing dysrhythmic speech, but a familiarization experience is required for the advantage to be realized. Findings are discussed in relation to the role of rhythm in speech processing and shed light on processing models that consider the consequence of rhythm abnormalities in dysarthria.

  3. 5-hydroxytryptamine and Lyme disease. Opportunity for a novel therapy to reduce the cerebellar tremor?

    Science.gov (United States)

    Maximov, G K; Maximov, K G; Chokoeva, A A; Lotti, T; Wollina, U; Patterson, J W; Guarneri, C; Tana, C; Fioranelli, M; Roccia, M G; Kanazawa, N; Tchernev, G

    2016-01-01

    Lyme boreliosis is caused by the spirochete Borrelia burdorferi, which is transmitted by ticks. A 59 year-old woman developed pyrexia, strong headaches, ataxia, dysarthria and tremor of the limbs after a tick bite. She was unable to work and eat on her own. She was hospitalized three times and diagnosed with cerebellar intention tremor, cerebellar ataxia, dysarthria, bilateral horizontal gaze paralysis and a central lesion of the left facial nerve. There were no pyramidal, sensory or psychiatric disturbances. The brain MRI showed multifocal leucoencephalopathy with many hyperintense areas in both hemispheres, as well as in the left superior pedunculus cerebellaris. Diagnosis was confirmed by serologic examination. Treatment with cephtriaxone, doxycycline, methylprednisolone, cephixime and ciprofloxacine was administered without effect on the tremor, ataxia and horizontal gaze paralysis. Treatment was then administered with 5-hydroxytriptamine (5-HT) in increased doses. The result of the three-month treatment with 5-HT was a gradual diminution of the tremor and the ataxia and an increase in the ability to eat, walk and work independently.

  4. [Anaesthesia for correction of scoliosis in pediatric patient with Friedreich's ataxia].

    Science.gov (United States)

    Agámez Medina, G L; Pantin, E J; Lorthé, J; Therrien, P J

    2015-01-01

    Friedreich ataxia (FA) is an inherited autosomal recessive disease characterized by a neurological degenerative process of the cerebellum, spinal cord, and peripheral nerves. FA is associated with ataxia, dysarthria, motor and sensory impairment, scoliosis, cardiomyopathy, and diabetes. There is a significant risk of perioperative major complications during the anesthetic management of these patients. We present the case of a fourteen-year-old patient with FA, who had a posterior spinal fusion and instrumentation underwent to total intravenous anesthesia. Copyright © 2013 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Cerebral blood flow SPECT scanning in cortico-basal degeneration

    International Nuclear Information System (INIS)

    Slawek, J.; Walczak, A.; Krupa-Olchawa, J.; Lass, P.; Dubaniewicz, M.

    1999-01-01

    Idiopathic Parkinson's disease accounts for ca. 75% of all cases of Parkinsonism. Corticobasal degeneration is a relatively rare example of the so-called ''Parkinson-plus'' syndrome. The authors present the case of a 56-year-old woman with rigidity and atypical tremor of upper extremity followed by gait apraxia, dysarthria, bilateral pyramidal signs and myoclonus. There was no improvement after treatment with L-dopa. The disease has progressed, but the patient is still alive. On the basis of clinical data a diagnosis of corticobasal degeneration has been established. Cerebral blood flow SPECT scanning revealed diffuse hypoperfusion of left frontal lobe, antero-inferior part of the left temporal lobe and left basal ganglia. The case illustrates the usefulness of brain SPECT in atypical forma of Parkinson's disease. (author)

  6. Post-stroke pure apraxia of speech - A rare experience.

    Science.gov (United States)

    Polanowska, Katarzyna Ewa; Pietrzyk-Krawczyk, Iwona

    Apraxia of speech (AOS) is a motor speech disorder, most typically caused by stroke, which in its "pure" form (without other speech-language deficits) is very rare in clinical practice. Because some observable characteristics of AOS overlap with more common verbal communication neurologic syndromes (i.e. aphasia, dysarthria) distinguishing them may be difficult. The present study describes AOS in a 49-year-old right-handed male after left-hemispheric stroke. Analysis of his articulatory and prosodic abnormalities in the context of intact communicative abilities as well as description of symptoms dynamics over time provides valuable information for clinical diagnosis of this specific disorder and prognosis for its recovery. This in turn is the basis for the selection of appropriate rehabilitative interventions. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  7. Fatal thalamic abscess secondary to dental infection.

    Science.gov (United States)

    Basyuni, Shadi; Sharma, Valmiki; Santhanam, Vijay; Ferro, Ashley

    2015-12-17

    We present the case of poor neurological recovery and subsequent death secondary to a thalamic abscess in a 53-year-old man. This patient initially presented with sudden dysarthria and left hemiparesis while driving. Neuroimaging showed a multilobular abscess involving the right thalamus with oedema extending to the basal ganglionic region and brainstem. The source of the abscess was initially unknown and it required draining multiple times while the different causes were being explored. The patient's neurological state along with intubation made for a difficult and inconclusive oral examination. It was only after neuroimaging included tooth-bearing areas that it became evident that this patient had extensive periodontal disease with multiple areas of periapical radiolucencies. The patient underwent complete dental clearance alongside repeated drainage of the abscess. Despite initial postoperative improvement, the patient never recovered from the neurological damage and died 3 weeks later. 2015 BMJ Publishing Group Ltd.

  8. Percutaneous reconstruction of the innominate bifurcation using the retrograde 'kissing stents' technique

    Energy Technology Data Exchange (ETDEWEB)

    Nagata, Shun-ichi; Kazekawa, Kiyoshi; Matsubara, Shuko [Fukuoka University Chikushi Hospital, Department of Neurosurgery, Chikushino, Fukuoka (Japan); Sugata, Sei [Bironoki Neurosurgical Hospital, Shibushi, Kagoshima (Japan)

    2006-08-15

    Obstructions of the supraaortic vessels are an important cause of morbidity associated with a variety of symptoms. Percutaneous transluminal angioplasty has evolved as an effective and safe treatment modality for occlusive lesions of the supraaortic vessels. However, the endovascular management of an innominate bifurcation has not previously been reported. A 53-year-old female with a history of systematic hypertension, diabetes mellitus and hypercholesterolemia presented with left hemiparesis and dysarthria. Angiography of the innominate artery showed a stenosis of the innominate bifurcation. The lesion was successfully treated using the retrograde kissing stent technique via a brachial approach and an exposed direct carotid approach. The retrograde kissing stent technique for the treatment of a stenosis of the innominate bifurcation was found to be a safe and effective alternative to conventional surgery. (orig.)

  9. A case of hypoglycemic hemiparesis and literature review.

    Science.gov (United States)

    Yoshino, Tetsuhiro; Meguro, Shu; Soeda, Yukie; Itoh, Arata; Kawai, Toshihide; Itoh, Hiroshi

    2012-08-01

    An 89-year-old man with diabetes treated with metformin 500 mg/day and glimepiride 4 mg/day was hospitalized because of hypoglycemic right hemiparesis and dysarthria (casual glucose value 1.8 mmol/L), which resolved quickly following administration of 40 mL of 40% dextrose. Hemiparesis is a rare symptom (4.2%) of hypoglycemia. There are about 200 case reports of hypoglycemic hemiparesis. The average glucose level at which hemiparesis developed was 1.8 mmol/L. Right-sided hemiparesis predominated (R 66%; L 34%). On imaging studies, abnormal findings were frequently observed in the internal capsule or splenium of the corpus callosum. The mechanism of hemiparesis is not fully understood. The existence of cases in which hypoglycemia cannot be distinguished from stroke on imaging studies suggests the importance of measurement of the blood glucose level when the symptoms of stroke are first recognized.

  10. Niemann-Pick disease Type C - Sea-blue histiocytosis: Phenotypic and imaging observations and mini review

    Directory of Open Access Journals (Sweden)

    Praveen K

    2007-01-01

    Full Text Available We present a report on an 18-year-old boy with Niemann-Pick disease Type C (NP-C who presented with progressive decline in scholastic performance since 9 years of age. At 12 years, he developed abnormal behavior and after 2 years had insidious onset, progressive gait ataxia and dysarthria followed by dystonia of the right upper extremity, excessive drooling, dysphagia and nasal regurgitation. He had coarse facies, depressed nasal bridge, high arched palate, crowded teeth, splenomegaly and peculiar facial grin. In addition, impaired vertical saccadic and pursuit eye movements, brisk muscle stretch reflexes and limb and gait ataxia were observed. He had a low IQ of 47 on Binet-Kamat test. The ultrasound examination of the abdomen confirmed the presence of moderate splenomegaly. Magnetic resonance imaging brain showed symmetrical leucoencephalopathy and mild cerebellar atrophy. Bone marrow aspiration showed numerous foamy macrophages and sea-blue histiocytes suggesting the diagnosis of NP-C.

  11. Hypermetabolism of Olivary Nuclei in a Patient with Progressive Ataxia and Palatal Tremor

    Directory of Open Access Journals (Sweden)

    Jaana Korpela

    2015-09-01

    Full Text Available Background: The pathophysiology of the movement disorder progressive ataxia with palatal tremor (PAPT is unclear.Case report: A 77-year-old male presented with dysarthria, ataxia, and 1–2 Hz palatal tremor. A diagnosis of probable sporadic PAPT was established. Brain magnetic resonance imaging was normal at the presymptomatic phase but later showed olivary hypertrophy. Brain [18F]-fludeoxyglucose (FDG positron emission tomography (PET showed bilateral hypermetabolism in the olivary nuclei. Discussion: This second reported patient with PAPT and FDG-PET shows that olivary hypertrophy is paralleled with hypermetabolism. The olivary nuclei pathology also appears to be temporally associated with symptom onset.

  12. Compulsive masturbation and chronic penile lymphedema.

    Science.gov (United States)

    Calabrò, Rocco Salvatore; Galì, Alessandro; Marino, Silvia; Bramanti, Placido

    2012-06-01

    Chronic penile lymphedema arises from the abnormal retention of lymphatic fluid in the subcutaneous tissues and may be secondary to local and systemic medical conditions such as sexually transmitted diseases, filariasis, malignancy, local radiotherapy, and surgery. This case report aims to consider compulsive masturbation as a possible cause of chronic penile edema. A 40-year-old man was referred to our institute for behavioral disturbance, including compulsive masturbation. Neuropsychiatric evaluation showed moderate mental retardation, mild dysarthria and limb incoordination, anxiety, depressed mood, and impulse dyscontrol. Brain MRI pointed out diffuse white matter lesions. Urogenital examination revealed an uncircumcised penis with non-tender edema of the shaft and prepuce with areas of lichenification. Since the most common local and systemic causes of edema were excluded, chronic penile edema due to compulsive masturbation was diagnosed and the compulsive behavior treated with an antidepressant and low-dose neuroleptics. Compulsive masturbation should be taken into account when counselling patients with penile edema.

  13. A new SETX mutation producing AOA2 in two siblings.

    Science.gov (United States)

    Datta, Neil; Hohler, Anna

    2013-09-01

    In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2). The patients had a detailed neurological history and examination performed. Radiological imaging was obtained and genetic analysis was obtained. Both siblings demonstrated healthy and normal growth until adolescence. At that time, slowed speech, hypophonia, dysarthria, extraocular muscle dysfunction and some mild choreiform movements began to appear. Family history included some movement disorder difficulties in second degree relatives. The diagnosis of AOA2 was confirmed by genetic testing. We describe a new SETX gene mutation, which when combined with a recognized SETX mutation results in AOA2. The clinical, radiographic and ancillary testing are described.

  14. Hyperkinetic transient ischemic attacks preceding deep ganglionic infarction in a patient with a treated parasellar chondrosarcoma.

    Science.gov (United States)

    Ruff, Michael W; Bhargav, Adip G; English, Stephen W; Klaas, James P

    2018-02-01

    A 44-year-old right-handed female with a past medical history of parasellar chondrosarcoma status post-surgical debulking and proton beam therapy (70 Gy) three years prior to presentation experienced several hours of brief, repetitive episodes of transient hemiballism and dystonia; this was followed by abrupt onset of fixed hemiparesis and dysarthria weeks later, ipsilateral to her prior hyperkinetic movements. She was found to have total occlusion of the right middle cerebral artery with focal stenosis of the proximal right A-1 segment of the anterior cerebral artery adjacent to the remnants of the chondrosarcoma. These focal areas of narrowing were attributed to accelerated atherosclerotic disease, an adverse effect of the radiotherapy used to treat her chondrosarcoma. As treatments improve and mean survival increases for intracranial malignancy, radiation-induced atherosclerotic disease with protean manifestations such as those presented in this case may be encountered more frequently. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Five cases of a Joseph disease family with non-REM sleep apnea and MRI study

    International Nuclear Information System (INIS)

    Kitamura, Junichi; Tsuruta, Kazuhito; Yamamura, Yoshinori; Kurihara, Teruyuki; Matsukura, Shigeru

    1987-01-01

    Four male and one female patients of a new Joseph disease family in southern Kyushu are presented. This disorder is inherited by autosomal dominant trait. The clinical symptoms are characterized by bulging eyes, ophthalmoplegia, dysarthria, rigospasticity of the lower limbs, marked dystonia and bradykinesia. In our cases, extrapyramidal symptoms were improved by amantadine and L-Dopa therapy. CSF homovanilic acid (HVA) was markedly reduced. Muscle biopsy and electromyographic studies revealed neurogenic changes. MRI revealed mild atrophy of frontal lobe and cerebellum, and marked atrophy of brain stem. These findings were consistent with the clinical manifestations. Our case had central type sleep apnea by sleep EEG and polygraphic studies. This is the first report about sleep apnea and MRI of Joseph disease. (author)

  16. 48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.

    Science.gov (United States)

    Zantour, Baha; Sfar, Mohamed Habib; Younes, Samia; Alaya, Wafa; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saida

    2010-01-01

    A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.

  17. Reversible splenial lesion on the corpus callosum in nonfulminant hepatitis A presenting as encephalopathy

    Directory of Open Access Journals (Sweden)

    Soon Young Ko

    2014-12-01

    Full Text Available Reversible focal lesions on the splenium of the corpus callosum (SCC have been reported in patients with mild encephalitis/encephalopathy caused by various infectious agents, such as influenza, mumps, adenovirus, Varicella zoster, Escherichia coli, Legionella pneumophila, and Staphylococcus aureus. We report a case of a reversible SCC lesion causing reversible encephalopathy in nonfulminant hepatitis A. A 30-year-old healthy male with dysarthria and fever was admitted to our hospital. After admission his mental status became confused, and so we performed electroencephalography (EEG and magnetic resonance imaging (MRI of the brain, which revealed an intensified signal on diffusion-weighted imaging (DWI at the SCC. His mental status improved 5 days after admission, and the SCC lesion had completely disappeared 15 days after admission.

  18. 48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

    Directory of Open Access Journals (Sweden)

    Baha Zantour

    2010-01-01

    Full Text Available A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.

  19. Stroke rehabilitation.

    Science.gov (United States)

    Langhorne, Peter; Bernhardt, Julie; Kwakkel, Gert

    2011-05-14

    Stroke is a common, serious, and disabling global health-care problem, and rehabilitation is a major part of patient care. There is evidence to support rehabilitation in well coordinated multidisciplinary stroke units or through provision of early supported provision of discharge teams. Potentially beneficial treatment options for motor recovery of the arm include constraint-induced movement therapy and robotics. Promising interventions that could be beneficial to improve aspects of gait include fitness training, high-intensity therapy, and repetitive-task training. Repetitive-task training might also improve transfer functions. Occupational therapy can improve activities of daily living; however, information about the clinical effect of various strategies of cognitive rehabilitation and strategies for aphasia and dysarthria is scarce. Several large trials of rehabilitation practice and of novel therapies (eg, stem-cell therapy, repetitive transcranial magnetic stimulation, virtual reality, robotic therapies, and drug augmentation) are underway to inform future practice. Copyright © 2011 Elsevier Ltd. All rights reserved.

  20. MHC class II deficiency: Report of a novel mutation and special review.

    Science.gov (United States)

    Farrokhi, S; Shabani, M; Aryan, Z; Zoghi, S; Krolo, A; Boztug, K; Rezaei, N

    The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the MHC II gene and results in development of blind lymphocytes due to the lack of indicatory MHC II molecules. Despite homogeneity of clinical manifestations of patients with MHC II deficiency, the genetic defects underlying this disease are heterogeneous. Herein, we report an Iranian patient with MHC II deficiency harbouring a novel mutation in RFXANK and novel misleading clinical features. He had ataxic gait and dysarthria from 30 months of age. Epidemiology, clinical and immunological features, therapeutic options and prognosis of patients with MHC II are reviewed in this paper. Copyright © 2017 SEICAP. Published by Elsevier España, S.L.U. All rights reserved.

  1. “Eye of the Tiger” in a Non-Responsive Neuropsychiatric Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Milad Hosseinialhashemi

    2018-02-01

    Full Text Available Hallervorden-Spatz syndrome is a rare neurodegenerative disorder with hereditary properties. It usually occurs in young adolescents with extrapyramidal symptoms besides disturbed mental function. In this study, we present a 23-year-old neuropsychiatric patient who primarily misdiagnosed to have conversion disorder. She had 5-year history of progressive dysarthria and generalized abnormal movements. After detecting the pathognomonic sign of “eye of the tiger” diagnosis was confirmed. The patient was discharged. She had satisfactory condition in her follow-up. Such a rare syndrome should be considered in patients with similar presentation, and upon the diagnosis, PKAN2 gene study should be done to detect possible new mutations.     

  2. A Case of Adult-Onset Alexander Disease Featuring Severe Atrophy of the Medulla Oblongata and Upper Cervical Cord on Magnetic Resonance Imaging

    Science.gov (United States)

    Yonezu, Tadahiro; Ito, Shoichi; Kanai, Kazuaki; Masuda, Saeko; Shibuya, Kazumoto; Kuwabara, Satoshi

    2012-01-01

    Adult-onset Alexander disease (AOAD) has been increasingly recognized since the identification of the glial fibrillary acidic protein gene mutation in 2001. We report on a 56-year-old man who was genetically confirmed as AOAD with the glial fibrillary acidic protein mutation of p.M74T. He developed spastic tetraparesis, sensory disturbances in four limbs, and mild cognitive impairment without apparent dysarthria and dysphagia. The case was characterized by severe atrophy of the medulla oblongata and upper cervical cord with intramedullary signal intensity changes on magnetic resonance imaging. While AOAD is diverse in clinical presentation, the peculiar magnetic resonance imaging findings of marked atrophy of the medulla oblongata and cervical cord are thought to be highly suggestive of the diagnosis of AOAD. PMID:23185175

  3. Possible neuro-Sweet disease mimicking brain tumor in the medulla oblongata--case report.

    Science.gov (United States)

    Akiba, Chihiro; Esaki, Takanori; Ando, Maya; Furuya, Tsuyoshi; Noda, Kazuyuki; Nakao, Yasuaki; Yamamoto, Takuji; Okuma, Yasuyuki; Mori, Kentaro

    2011-01-01

    A 62-year-old male presented with a rare case of possible neuro-Sweet Disease (NSD) mimicking brain tumor in the medulla oblongata, manifesting as numbness in the bilateral upper and lower extremities, gait disturbance, dysarthria, and swallowing disturbance which gradually deteriorated over 3 months. Magnetic resonance imaging showed a mass lesion in the medulla oblongata, extending to the upper cervical cord with rim enhancement by gadolinium. The preoperative diagnosis was brain tumor, such as glioma, or inflammatory disease. His neurological symptoms gradually deteriorated, so biopsy was performed through the midline suboccipital approach. Histological examination showed infiltration of inflammatory cells, mainly lymphocytes and macrophages. Human leukocyte antigen typing showed Cw1 and B54 which strongly suggested possible NSD. Steroid pulse therapy was started after surgery and the clinical symptoms improved. Neurosurgeons should be aware of inflammatory disorders such as NSD mimicking brain tumor.

  4. Percutaneous reconstruction of the innominate bifurcation using the retrograde 'kissing stents' technique

    International Nuclear Information System (INIS)

    Nagata, Shun-ichi; Kazekawa, Kiyoshi; Matsubara, Shuko; Sugata, Sei

    2006-01-01

    Obstructions of the supraaortic vessels are an important cause of morbidity associated with a variety of symptoms. Percutaneous transluminal angioplasty has evolved as an effective and safe treatment modality for occlusive lesions of the supraaortic vessels. However, the endovascular management of an innominate bifurcation has not previously been reported. A 53-year-old female with a history of systematic hypertension, diabetes mellitus and hypercholesterolemia presented with left hemiparesis and dysarthria. Angiography of the innominate artery showed a stenosis of the innominate bifurcation. The lesion was successfully treated using the retrograde kissing stent technique via a brachial approach and an exposed direct carotid approach. The retrograde kissing stent technique for the treatment of a stenosis of the innominate bifurcation was found to be a safe and effective alternative to conventional surgery. (orig.)

  5. Speech, language and swallowing in Huntington’ Disease

    Directory of Open Access Journals (Sweden)

    Maryluz Camargo-Mendoza

    2017-04-01

    Full Text Available Huntington’s disease (HD has been described as a genetic condition caused by a mutation in the CAG (cytosine-adenine-guanine nucleotide sequence. Depending on the stage of the disease, people may have difficulties in speech, language and swallowing. The purpose of this paper is to describe these difficulties in detail, as well as to provide an account on speech and language therapy approach to this condition. Regarding speech, it is worth noticing that characteristics typical of hyperkinetic dysarthria can be found due to underlying choreic movements. The speech of people with HD tends to show shorter sentences, with much simpler syntactic structures, and difficulties in tasks that require complex cognitive processing. Moreover, swallowing may present dysphagia that progresses as the disease develops. A timely, comprehensive and effective speech-language intervention is essential to improve the quality of life of people and contribute to their communicative welfare.

  6. Repeated delayed onset cerebellar radiation injuries after linear accelerator-based stereotactic radiosurgery for vestibular schwannoma. Case report

    International Nuclear Information System (INIS)

    Ujifuku, Kenta; Matsuo, Takayuki; Toyoda, Keisuke

    2012-01-01

    A 63-year-old woman presented with right hearing disturbance and vertigo. Magnetic resonance (MR) imaging revealed the presence of right vestibular schwannoma (VS). Stereotactic radiosurgery (SRS) was performed with a tumor marginal dose of 14 Gy using two isocenters. She was followed up clinically and neuroradiologically using three-dimensional spoiled gradient-echo MR imaging. She experienced temporal neurological deterioration due to peritumoral edema in her right cerebellar peduncle and pons for a few months beginning 1.5 years after SRS, when she experienced transient right facial dysesthesia and hearing deterioration. Ten years after SRS, the patient presented with sudden onset of vertigo, gait disturbance, diplopia, dysarthria, and nausea. MR imaging demonstrated a new lesion in the right cerebellar peduncle, which was diagnosed as radiation-induced stroke. The patient was followed up conservatively and her symptoms disappeared within a few months. Multiple delayed onset radiation injuries are possible sequelae of SRS for VS. (author)

  7. Effortful echolalia.

    Science.gov (United States)

    Hadano, K; Nakamura, H; Hamanaka, T

    1998-02-01

    We report three cases of effortful echolalia in patients with cerebral infarction. The clinical picture of speech disturbance is associated with Type 1 Transcortical Motor Aphasia (TCMA, Goldstein, 1915). The patients always spoke nonfluently with loss of speech initiative, dysarthria, dysprosody, agrammatism, and increased effort and were unable to repeat sentences longer than those containing four or six words. In conversation, they first repeated a few words spoken to them, and then produced self initiated speech. The initial repetition as well as the subsequent self initiated speech, which were realized equally laboriously, can be regarded as mitigated echolalia (Pick, 1924). They were always aware of their own echolalia and tried to control it without effect. These cases demonstrate that neither the ability to repeat nor fluent speech are always necessary for echolalia. The possibility that a lesion in the left medial frontal lobe, including the supplementary motor area, plays an important role in effortful echolalia is discussed.

  8. A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎] Causing Episodic Ataxia Type 2

    Directory of Open Access Journals (Sweden)

    Sean Lance

    2018-01-01

    Full Text Available Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2 is the most common and also has the largest number of identified causative genetic variants. Treatment with acetazolamide is effective in improving symptoms, so accurate diagnosis is essential. However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. Report of such variations is important in learning more about the disease and improving diagnostic yield for the patient.

  9. SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

    Science.gov (United States)

    Dardour, Leila; Roelens, Filip; Race, Valerie; Souche, Erika; Holvoet, Maureen; Devriendt, Koen

    2017-07-01

    Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six unrelated families with a genetically confirmed diagnosis have been reported. Here we report the clinical findings in three brothers of a consanguineous Moroccan family, aged 24, 17, and 7 yr old, with spastic paraplegia, short stature, motor and cognitive delay, and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the SPG20 gene, c.1369C>T (p.Arg457*), in the three affected boys. © 2017 Dardour et al.; Published by Cold Spring Harbor Laboratory Press.

  10. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria......, unipolar depression, epilepsy, migraine, and cognitive impairment was investigated. Genetic linkage analysis and sequencing of the SPG4 gene was performed and electrophysiologic investigations were carried out in six individuals and positron emission tomography (PET) in one patient. The disease was linked...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...

  11. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

    DEFF Research Database (Denmark)

    Nielsen, Jørgen Erik; Johnson, B; Koefoed, Pernille

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria......, unipolar depression, epilepsy, migraine, and cognitive impairment was investigated. Genetic linkage analysis and sequencing of the SPG4 gene was performed and electrophysiologic investigations were carried out in six individuals and positron emission tomography (PET) in one patient. The disease was linked...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...

  12. Cognitive functioning in bilateral perisylvian polymicrogyria (BPP): clinical and radiological correlations.

    Science.gov (United States)

    Jansen, An C; Leonard, Gabriel; Bastos, Alexandre C; Esposito-Festen, Josée E; Tampieri, Donatella; Watkins, Kate; Andermann, Frederick; Andermann, Eva

    2005-05-01

    Bilateral perisylvian polymicrogyria (BPP) is a malformation of cortical development, frequently associated with severe dysarthria or anarthria. BPP patients are therefore often labeled as severely retarded, but a detailed neuropsychological profile has not been reported to date. In a series of 14 patients, we demonstrated that only a minority had extremely low intelligence, and that some aspects of cognitive function correlated with the extent of the cortical disorganization. Early age at seizure onset correlated positively with Performance IQ scores (PBPP are more likely to have early seizure onset, resulting in greater interference with ongoing cognitive development. Receptive and expressive language skills were found to be equally poor. Frontal lobe function and memory abilities were relatively well preserved, suggesting that the observed cognitive profiles were related, at least in part, to specific areas of cortical dysfunction and not only to global dysfunction.

  13. Nuclear Magnetic Resonance skull in Cuban families first diagnosed with Friedreich's ataxia

    International Nuclear Information System (INIS)

    Cruz Marinno, Tania; Alvarez Cuesta, Jose Alberto; Aguilera Rodriguez, Raul; Velazquez Perez, Luis

    2011-01-01

    Friedreich's ataxia is characterized by age of onset before 25 years, progressive ataxia, dysarthria, absent deep tendon reflexes and impaired vibration sense. This research was conducted in order to describe the imaging features of central nervous system structures in the early Cuban families diagnosed with the disease. A team of 0.23 Tesla-PANORAMA-Phylips Medical Systems, with a standard head coil, axial slices were obtained using 5mm thick FLAIR sequences, T1 and T2, and sagittal T1 and T2 in three individuals with confirmatory molecular diagnosis of Friedreich's ataxia and six healthy controls matched by age and sex. The morphological structures most affected are the cervical spinal cord, cerebellum and pons, which provides in vivo evidence that the disease leads to atrophy of these structures

  14. A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2.

    Science.gov (United States)

    Lance, Sean; Mossman, Stuart; Poke, Gemma

    2018-01-01

    Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest number of identified causative genetic variants. Treatment with acetazolamide is effective in improving symptoms, so accurate diagnosis is essential. However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. Report of such variations is important in learning more about the disease and improving diagnostic yield for the patient.

  15. Five cases of a Joseph disease family with non-REM sleep apnea and MRI study

    Energy Technology Data Exchange (ETDEWEB)

    Kitamura, Junichi; Tsuruta, Kazuhito; Yamamura, Yoshinori; Kurihara, Teruyuki; Matsukura, Shigeru

    1987-09-01

    Four male and one female patients of a new Joseph disease family in southern Kyushu are presented. This disorder is inherited by autosomal dominant trait. The clinical symptoms are characterized by bulging eyes, ophthalmoplegia, dysarthria, rigospasticity of the lower limbs, marked dystonia and bradykinesia. In our cases, extrapyramidal symptoms were improved by amantadine and L-dopa therapy. CSF homovanilic acid (HVA) was markedly reduced. Muscle biopsy and electromyographic studies revealed neurogenic changes. MRI revealed mild atrophy of frontal lobe and cerebellum, and marked atrophy of brain stem. These findings were consistent with the clinical manifestations. Our case had central type sleep apnea by sleep EEG and polygraphic studies. This is the first report about sleep apnea and MRI of Joseph disease.

  16. PCA Infarction With Its Cognitive Findings: More Than Hemianopia

    Directory of Open Access Journals (Sweden)

    Zehra Bozdoğan

    2013-12-01

    Full Text Available Posterior cerebral artery infarctions constitute 5-10 % of all ischemic strokes.In this case report, a 62 year-old man presenting with right hemiparesia and dysarthria is going to be discussed. The patient had acute onset- demential symptoms and difficulty in reading, and acute infarction in the territory of left posterior cerebral artery was detected in cranial magnetic resonance imaging. The patient who had acute ischemic lesions in left parahippocampus, splenium of corpus callosum, left fusiform gyrus and left thalamus was evaluated with detailed neuropsychological tests. Cognitive deficits severe enough to affect daily living were detected. Pure alexia, anterograde amnesia and anomia, being often neglected manifestations of unilateral posterior cerebral artery infarction, are going to be reviewed with corresponding radiological findings

  17. Widely scattered CT lesions in the midbrain and the pons in a case of neuro-Behcet's syndrome

    International Nuclear Information System (INIS)

    Kuroiwa, Yoshiyuki; Tohgi, Hideo; Kanayama, Hiroumi; Fujimori, Masaki; Aoki, Hidehiko

    1985-01-01

    We report on a 30-year-old man with neuro-Behcet's disease. His main neurologic symptoms and signs included headache, alternating hemiparesis, dysarthria, and truncal ataxia. Lumbar puncture demonstrated an elevated pressure, pleocytosis, and an increased protein concentration. Intravenous betamethasone produced a rapid and sustained improvement, without recurrence for two years. Widely scattered foci of small, low-density lesions were disclosed in the midbrain and the pons on a cranial CT scan with 2.5 mm thin-cut slices to enable us to focus on the brainstem. Such CT lesions are consistent with the neuropathological features of this illness, which shows a tendency for brainstem lesions to predominate; these lesions probably represent necrotic areas secondary to vasculitis. Brainstem CT studies with thin-cut slices may be an important diagnostic aid in patients suspected of having neuro-Behcet's disease. (author)

  18. Degenerative cerebellar diseases and differential diagnoses

    International Nuclear Information System (INIS)

    Reith, W.; Roumia, S.; Dietrich, P.

    2016-01-01

    Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia. In addition to magnetic resonance imaging (MRI), nuclear medicine imaging investigations are also helpful for the differentiation. Axial fluid-attenuated inversion recovery (FLAIR) and T2-weighted sequences can sometimes show a signal increase in the pons as a sign of degeneration of pontine neurons and transverse fibers in the basilar part of the pons. The imaging is particularly necessary to exclude other diseases, such as normal pressure hydrocephalus (NPH), multi-infarct dementia and cerebellar lesions. (orig.) [de

  19. [Degenerative cerebellar diseases and differential diagnoses].

    Science.gov (United States)

    Reith, W; Roumia, S; Dietrich, P

    2016-11-01

    Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia. In addition to magnetic resonance imaging (MRI), nuclear medicine imaging investigations are also helpful for the differentiation. Axial fluid-attenuated inversion recovery (FLAIR) and T2-weighted sequences can sometimes show a signal increase in the pons as a sign of degeneration of pontine neurons and transverse fibers in the basilar part of the pons. The imaging is particularly necessary to exclude other diseases, such as normal pressure hydrocephalus (NPH), multi-infarct dementia and cerebellar lesions.

  20. Amyotrophic lateral sclerosis associated with pregnancy.

    LENUS (Irish Health Repository)

    Tyagi, A

    2012-02-03

    Amyotrophic lateral sclerosis (ALS) is the most common, progressive motor neurone disease but is rare in the obstetric population. Only 4 cases have been described in the English literature since 1975. We describe a 29 year old woman who presented with ataxia, lower limb weakness and dysarthria 4 weeks after the birth of her first child. The symptoms had onset during the pregnancy but had not been considered remarkable. There were clinical features of upper and lower motor neurone involvement without any sensory loss. MRI of brain and spine was normal. CSF analysis was negative. EMG studies confirmed the presence of widespread anterior horn cell dysfunction compatible with ALS. The patient was commenced on Riluzole and has progressed clinically, at 12 months post diagnosis.

  1. Research Paper: Production of A Protocol on Early Intervention for Speech and Language Delays in Early Childhood: An Novice Experience in Iran

    Directory of Open Access Journals (Sweden)

    Roshanak Vameghi

    2016-01-01

    Results The result of this study is presented as 7 intervention packages, including the following domains of disorders: prelingual lingual speech and language hearing impairment, speech sound, dysphagia, stuttering, and dysarthria  Conclusion Most studies have confirmed the effectiveness and need for early interventions for children with speech and language impairment. However, most do not explain the details of these interventions. Before the present study, no systematic and evidence-based protocol existed for early intervention in childhood speech and language impairments, in Iran; and due to language differences, as well as possible differences in the speech and language developmental process of children of different communities, making direct use of non-Persian references was not possible and effective. Thus, there was a clear demand for the production of such a protocol.

  2. [An improved case of bedridden mental impairment with normal pressure hydrocephalus associated with acoustic neurinoma after tumor resection].

    Science.gov (United States)

    Sugimoto, Seiichiro; Sugimoto, Akiko; Saita, Kazuko; Kishi, Masahiko; Shioya, Keiichi; Higa, Toshinobu

    2008-08-01

    A 67-year-old woman developed gait disturbance, dysarthria, cognitive impairment and incontinence at age 65, and became bedridden. She showed mutism, stupor and lower limb spasticity. Cranial CT and MRI revealed marked ventricular enlargement and a cerebellopontine angle tumor. CSF study showed normal pressure (125 mmH2O) and elevated protein (143 mg/dl). Radionuclide cisternography showed redistribution of radionuclide to the ventricles and intraventricular residual radionuclide after 72 hours, which allowed a diagnosis of normal pressure hydrocephalus. After removal of the tumor, ventricle size and CSF protein decreased, and the symptoms of cognitive impairment and motor dysfunction resolved. Histological examination showed acoustic neurinoma. Over the half of hydrocephalus following acoustic neurinoma shows a tendency to improve by surgical resection of the tumor. Neurologists who see cognitively impaired spastic bedridden patients should not overlook this pathology.

  3. Transient mutism and pathologic laughter in the course of cerebellitis.

    Science.gov (United States)

    Dimova, Petia S; Bojinova, Veneta S; Milanov, Ivan G

    2009-07-01

    The phenomenon of cerebellar mutism with subsequent dysarthria is most commonly described as a part of posterior fossa syndrome after surgery for neoplasms in childhood. Pathologic laughter, on the other hand, is observed primarily in various neurologic diseases in adults. In the present case, a child manifested transient mutism and pathologic laughter during a severe cerebellitis. Headache, vertigo, and impaired consciousness developed during an acute respiratory infection. Thereafter, severe ataxia, mutism, and involuntary laughter became the main clinical features, as well as pyramidal signs. Magnetic resonance imaging revealed cerebellar swelling and T(2) hyperintensity. During steroid treatment, a gradual vanishing of the pathologic laughter and improvement of the motor and speech functions occurred. Recovery was slow and incomplete, and follow-up magnetic resonance imaging showed cerebellar atrophy. This case confirms that mutism is a rare, but possible, manifestation in acute parainfectious cerebellitis and provides a novel example of pathologic laughter during this disease in childhood.

  4. A prospective study of 137 patients with Parkinson's disease and anosmia

    Directory of Open Access Journals (Sweden)

    Soltanzadeh A

    1997-08-01

    Full Text Available In this research we tried to study frequency of clinical manifestations in Parkinson's disease. Hence, a prospective study was conducted in 317 patients who were affected by Parkinson's disease. In a questionnaire we collected data of patient's age, gender and signs and symptoms and then analyzed them. The most common features in our patients were tremor and muscular rigidity. Olfactory dysfunction was observed in 61% of our patients. Dysarthria, stooped posture, fixed facial expression, intellectual deterioration and the on-off response had various frequency among the patients. A new and important point in our research was considerable frequency of Anosmia or Hyposmia in spite of it's low prevalence among the patients of previous studies.

  5. Toxic Effects of Mercury on the Cardiovascular and Central Nervous Systems

    Directory of Open Access Journals (Sweden)

    Bruna Fernandes Azevedo

    2012-01-01

    Full Text Available Environmental contamination has exposed humans to various metal agents, including mercury. This exposure is more common than expected, and the health consequences of such exposure remain unclear. For many years, mercury was used in a wide variety of human activities, and now, exposure to this metal from both natural and artificial sources is significantly increasing. Many studies show that high exposure to mercury induces changes in the central nervous system, potentially resulting in irritability, fatigue, behavioral changes, tremors, headaches, hearing and cognitive loss, dysarthria, incoordination, hallucinations, and death. In the cardiovascular system, mercury induces hypertension in humans and animals that has wide-ranging consequences, including alterations in endothelial function. The results described in this paper indicate that mercury exposure, even at low doses, affects endothelial and cardiovascular function. As a result, the reference values defining the limits for the absence of danger should be reduced.

  6. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

    DEFF Research Database (Denmark)

    Svenstrup, K; Møller, R S; Christensen, J

    2011-01-01

    or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been...... described and in addition, recurrent microdeletions at 15q11.2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP. Methods: Fifty-two patients with HSP were screened for mutations in NIPA1. Results: One previously...... reported missense mutation c.316G>A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand muscles, upper limb spasticity, and presumably IGE. The epilepsy co-segregated with HSP in the family. Conclusion: NIPA1 mutations were rare in our...

  7. Cerebellar mutism--report of four cases.

    Science.gov (United States)

    Ozimek, A; Richter, S; Hein-Kropp, C; Schoch, B; Gorissen, B; Kaiser, O; Gizewski, E; Ziegler, W; Timmann, D

    2004-08-01

    The aim of the present study was to investigate the manifestations of mutism after surgery in children with cerebellar tumors. Speech impairment following cerebellar mutism in children was investigated based on standardized acoustic speech parameters and perceptual criteria. Mutistic and non-mutistic children after cerebellar surgery as well as orthopedic controls were tested pre-and postoperatively. Speech impairment was compared with the localization of cerebellar lesions (i. e. affected lobules and nuclei). Whereas both control groups showed no abnormalities in speech and behavior, the mutistic group could be divided into children with dysarthria in post mutistic phase and children with mainly behavioral disturbances. In the mutistic children involvement of dentate and fastigial nuclei tended to be more frequent and extended than in the nonmutistic cerebellar children. Cerebellar mutism is a complex phenomenon of at least two types. Dysarthric symptoms during resolution of mutism support the anarthria hypothesis, while mainly behavioral changes suggest an explanation independent from speech motor control.

  8. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.

    Science.gov (United States)

    Shapiro, Barbara E; Logigian, Eric L; Kolodny, Edwin H; Pastores, Gregory M

    2008-08-01

    Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal storage disorder caused by a partial deficiency of beta-hexosaminidase A (HEXA) activity. Deficient levels of HEXA result in the intracellular accumulation of GM2-ganglioside, resulting in toxicity to nerve cells. Clinical manifestations primarily involve the central nervous system (CNS) and lower motor neurons, and include ataxia, weakness, spasticity, dysarthria, dysphagia, dystonia, seizures, psychosis, mania, depression, and cognitive decline. The prevalence of peripheral nervous system (PNS) involvement in LOTS has not been well documented, but it has traditionally been thought to be very low. We examined a cohort of 30 patients with LOTS who underwent clinical and electrophysiologic examination, and found evidence of a predominantly axon loss polyneuropathy affecting distal nerve segments in the lower and upper extremities in eight patients (27%).

  9. [A 70-year-old woman presenting with restless shoulder following posterior internal capsule infarction].

    Science.gov (United States)

    Matsubara, Takeo; Suzuki, Keisuke; Okamura, Madoka; Shiina, Tomohiko; Miyamoto, Masayuki; Nakamura, Toshiki; Hirata, Koichi

    2017-11-25

    A 70-year-old woman noticed difficulty in speech and weakness of the left upper and lower limb upon awakening. Neurological examination showed dysarthria and left hemiparesis. No sensory disturbance was observed. Brain MRI revealed acute infarction in the right posterior limb of the internal capsule. On the hospital day 1, she developed the abnormal sensations restricted to the bilateral shoulders, resulting in difficulty initiating sleep. On laboratory data, renal function and serum hemoglobin and ferritin levels were normal. When four essential features of restless legs syndrome (RLS) were applied to her shoulders, the patient met RLS criteria. Following low dose pramipexole treatment, the abnormal sensation of the shoulders and insomnia significantly improved. We should be aware of the possibility of RLS or its variant, including "restless shoulder" of our patient, for the cause of insomnia following acute ischemic infarction.

  10. A progressive multifocal neurological syndrome in a 42-year-old woman.

    LENUS (Irish Health Repository)

    Cryan, Jane

    2012-02-01

    This is the case of a 42-year-old female who presented with transient dizziness. Her symptoms and signs progressed to include dysarthria, ataxia and cognitive decline over 2 years, such that she was unable to care for herself. She died 4 years after first presentation without a diagnosis. Investigations revealed a normochromic normocytic anaemia. Cerebrospinal fluid was normal. Serial computed tomography brain showed a wedge-shaped frontal infarct but no progressive changes. Examination at autopsy showed discoloration of the gray and white matter of the brain and spinal cord.Microscopy of leptomeningeal and parenchymal vessels showed they were filled with atypical B lymphocytes confined to the intravascular space with multiple infarcts in the brain, cerebellum and spinal cord. A diagnosis of intravascular B cell lymphoma was made and is discussed.

  11. Cerebral involvement in pseudoxanthoma elasticum; case report

    Directory of Open Access Journals (Sweden)

    Eylem Değirmenci

    2013-08-01

    Full Text Available Pseudoxanthoma elasticum (PXE is a rarely seen connective tissue disease which is characterized by progressive fragmentation and calcification of elastic fibers. Generally it is characterized by cutaneus, ocular and vascular system involvement and neurological complications are usually secondary to vascular insufficiency. 43 years old male patient had a progressive dysarthria, ataxia and vision loss which started many years ago referred to our clinic. Loose skin was seen on bilateral his axillar region and neck with atrophic, pale viola macular lesions on his body. There was “angiloid streaks” on fundus examination and skin biopsy showed calcified degenerated elastic fibers on middle and deep dermis. Diffuse white matter lesions were determined on cranial imaging. To keep in mind the diagnosis of rare diseases would be helpful in early diagnosis and treatment, reducing and even preventing systemic complications.

  12. Wernicke’s encephalopathy following hyperemesis gravidarum: A case report

    Directory of Open Access Journals (Sweden)

    leila pourali

    2016-06-01

    Full Text Available Introduction: Wernicke’s Korsakoff syndrome is the most important complication of severe thiamine deficiency. Confusion and gait ataxia are the most prevalent symptoms, respectively. The aim of this study was report of a case of Wernicke’s encephalopathy following hyperemesis gravidarum. Case report: A 28-years-old pregnant woman in 19th weeks of gestation referred to the hospital with hyperemesis, gait ataxia, and dysarthria. MRI showed hyperdense lesion which was characteristic of wernicke’s encephalopathy. Rapid improvement in patient’s condition occurred after thiamine infusion. Conclusion: In hyperemesis gravidarum, presence of either symptoms of ocular or mental disorder or ataxia must be considered to rull out Wernicke’s syndrome which can cause maternal death.

  13. Acute functional deterioration in a child with cerebral palsy.

    LENUS (Irish Health Repository)

    Smyth, Elizabeth

    2012-01-01

    We describe a case of acute functional deterioration in a 13-year-old girl with severe spastic diplegia (GMFCS III) and a new diagnosis of diffuse intrinsic pontine glioma (DIPG). She presented with acute deterioration in mobility and motor function over 1 month, which was associated with dysarthria, dysphagia and behavioural change. Her mother had noticed subtle functional deterioration over the 2 months prior to this. Her physiotherapist who was concerned about her acute functional deterioration referred her for emergency review. Neurological imaging revealed a diffuse pontine lesion consistent with DIPG. She was subsequently referred to oncology. She deteriorated further, clinically, over the next few days and following discussion with the team; her family opted for palliative treatment, given the poor prognosis associated with DIPG.

  14. Anti-Yo Mediated Paraneoplastic Cerebellar Degeneration Associated with Pseudobulbar Affect in a Patient with Breast Cancer

    Directory of Open Access Journals (Sweden)

    Allison N. Martin

    2017-01-01

    Full Text Available Paraneoplastic cerebellar degeneration (PCD is a rare anti-Yo mediated paraneoplastic syndromes rarely that is infrequently associated with breast cancer. We present a case of a 52-year-old female presenting with diplopia, gait instability, dysarthria, dysphagia, nystagmus, and, most notably, new onset paroxysmal episodes of uncontrollable crying concerning for pseudobulbar affect (PBA. Serologic testing showed anti-Yo antibodies. The patient was found to have stage IIIA breast cancer as the inciting cause of the paraneoplastic syndrome. The patient was treated with neoadjuvant chemotherapy, modified radical mastectomy, adjuvant Herceptin, and pertuzumab. She was given IVIG for paraneoplastic syndrome, antidepressants, and dextromethorphan-quinidine (Nuedexta, the first FDA-approved therapy for PBA. With multimodality therapy, she demonstrated significant improvement in neurologic and mood symptoms associated with PCD and PBA.

  15. Pure Motor Stroke Secondary to Cerebral Infarction of Recurrent Artery of Heubner after Mild Head Trauma: A Case Report.

    Science.gov (United States)

    Yilmaz, Ali; Kizilay, Zahir; Ozkul, Ayca; Çirak, Bayram

    2016-03-15

    The recurrent Heubner's artery is the distal part of the medial striate artery. Occlusion of the recurrent artery of Heubner, classically contralateral hemiparesis with fasciobrachiocrural predominance, is attributed to the occlusion of the recurrent artery of Heubner and is widely known as a stroke syndrome in adults. However, isolated occlusion of the deep perforating arteries following mild head trauma also occurs extremely rarely in childhood. Here we report the case of an 11-year-old boy with pure motor stroke. The brain MRI showed an acute ischemia in the recurrent artery of Heubner supply area following mild head trauma. His fasciobrachial hemiparesis and dysarthria were thought to be secondary to the stretching of deep perforating arteries leading to occlusion of the recurrent artery of Heubner. Post-traumatic pure motor ischemic stroke can be secondary to stretching of the deep perforating arteries especially in childhood.

  16. Communication Support for People with ALS

    Directory of Open Access Journals (Sweden)

    David Beukelman

    2011-01-01

    Full Text Available Almost all people with amyotrophic lateral sclerosis (ALS experience a motor speech disorder, such as dysarthria, as the disease progresses. At some point, 80 to 95% of people with ALS are unable to meet their daily communication needs using natural speech. Unfortunately, once intelligibility begins to decrease, speech performance often deteriorates so rapidly that there is little time to implement an appropriate augmentative and alternative communication (AAC intervention; therefore, appropriate timing of referral for AAC assessment and intervention continues to be a most important clinical decision-making issue. AAC acceptance and use have increased considerably during the past decade. Many people use AAC until within a few weeks of their deaths.

  17. [Cerebral artery thrombosis in pregnancy].

    Science.gov (United States)

    Charco Roca, L M; Ortiz Sanchez, V E; Hernandez Gutierrez-Manchon, O; Quesada Villar, J; Bonmatí García, L; Rubio Postigo, G

    2015-11-01

    A 28 year old woman, ASA I, who, in the final stages of her pregnancy presented with signs of neural deficit that consisted of distortion of the oral commissure, dysphagia, dysarthria, and weakness on the left side of the body. She was diagnosed with thrombosis in a segment of the right middle cerebral artery which led to an ischemic area in the right frontal lobe. Termination of pregnancy and conservative treatment was decided, with good resolution of the symptoms. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Toxic Effects of Mercury on the Cardiovascular and Central Nervous Systems

    Science.gov (United States)

    Fernandes Azevedo, Bruna; Barros Furieri, Lorena; Peçanha, Franck Maciel; Wiggers, Giulia Alessandra; Frizera Vassallo, Paula; Ronacher Simões, Maylla; Fiorim, Jonaina; Rossi de Batista, Priscila; Fioresi, Mirian; Rossoni, Luciana; Stefanon, Ivanita; Alonso, María Jesus; Salaices, Mercedes; Valentim Vassallo, Dalton

    2012-01-01

    Environmental contamination has exposed humans to various metal agents, including mercury. This exposure is more common than expected, and the health consequences of such exposure remain unclear. For many years, mercury was used in a wide variety of human activities, and now, exposure to this metal from both natural and artificial sources is significantly increasing. Many studies show that high exposure to mercury induces changes in the central nervous system, potentially resulting in irritability, fatigue, behavioral changes, tremors, headaches, hearing and cognitive loss, dysarthria, incoordination, hallucinations, and death. In the cardiovascular system, mercury induces hypertension in humans and animals that has wide-ranging consequences, including alterations in endothelial function. The results described in this paper indicate that mercury exposure, even at low doses, affects endothelial and cardiovascular function. As a result, the reference values defining the limits for the absence of danger should be reduced. PMID:22811600

  19. Stroke in thrombotic thrombocytopenic purpura induced by thyrotoxicosis: a case report.

    Science.gov (United States)

    Bellante, Flavio; Redondo Saez, Patricia; Springael, Cecile; Dethy, Sophie

    2014-07-01

    Thrombotic thrombocytopenic purpura (TTP) is a hematologic disease involving the platelet aggregation and resulting in hemolytic anemia, thrombocytopenia, and microvascular occlusion. Although frequent neurologic features are headache and confusion, focal deficit is described in 30% of the cases. There are a lot of causes inducing thrombotic thrombocytopenic, but reports are lacking when associated with Grave disease. We describe the case of a 51-year-old Caucasian woman presenting a 24-hour story of sudden onset of dysarthria and left superior limb palsy. Four months before, she developed severe hyperthyroidism associated with petechiae, hemolytic anemia, thrombocytopenia, and schistocytes at blood film examination. Relapse of TTP in association with Grave disease was diagnosed. There are few reports describing association between Grave disease and TTP with only mild neurologic involvement. We described, to our knowledge, the first case of acute ischemic stroke secondary to thrombotic thrombocytopenic induced by thyrotoxicosis. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  20. Cerebral infarction in a young man using high-dose anabolic steroids.

    Science.gov (United States)

    Shimada, Yoshiaki; Yoritaka, Asako; Tanaka, Yasutaka; Miyamoto, Nobukazu; Ueno, Yuji; Hattori, Nobutaka; Takao, Urabe

    2012-11-01

    Anabolic androgenic steroid (AAS) abuse has increased among athletes in recent years. However, AAS abuse can increase hypercoagulopathy and cause cerebrovascular disease. We report a case of a 27-year-old man who had right hemiparalysis, hemianopia, dysarthria, and double vision in the middle of muscle training. He suspected acute disseminated encephalomyelitis at first, because of a preceding respiratory infection. However, extensive work-up was performed, including brain magnetic resonance imaging, transcranial Doppler and transesophageal echocardiography, confirming the final diagnosis of cardioembolic stroke. Physicians should be aware that cerebrovascular disease may be a side effect of AAS, even in younger populations. Copyright © 2012 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  1. Automatic Speech Signal Analysis for Clinical Diagnosis and Assessment of Speech Disorders

    CERN Document Server

    Baghai-Ravary, Ladan

    2013-01-01

    Automatic Speech Signal Analysis for Clinical Diagnosis and Assessment of Speech Disorders provides a survey of methods designed to aid clinicians in the diagnosis and monitoring of speech disorders such as dysarthria and dyspraxia, with an emphasis on the signal processing techniques, statistical validity of the results presented in the literature, and the appropriateness of methods that do not require specialized equipment, rigorously controlled recording procedures or highly skilled personnel to interpret results. Such techniques offer the promise of a simple and cost-effective, yet objective, assessment of a range of medical conditions, which would be of great value to clinicians. The ideal scenario would begin with the collection of examples of the clients’ speech, either over the phone or using portable recording devices operated by non-specialist nursing staff. The recordings could then be analyzed initially to aid diagnosis of conditions, and subsequently to monitor the clients’ progress and res...

  2. Tongue controlled computer game: A new approach for rehabilitation of tongue motor function

    DEFF Research Database (Denmark)

    Kothari, Mohit; Svensson, Peter; Jensen, Jim

    2014-01-01

    Objective: To investigate the influence of tongue-disability, age and gender on motor performance for a tongue training paradigm involving playing a computer game using the Tongue Drive System (TDS). Design: Two controlled observational studies. Setting: A neurorehabilitation center and a dental...... school. Participants: In Study 1, eleven tongue-disabled patients with symptoms of dysphagia and dysarthria and 11 age-and sex-matched controls participated in tongue training. In Study 2, 16 healthy elderly and 16 healthy young participants volunteered. Intervention: In study 1 and study 2, the tongue....... Subject-based reports of motivation, fun, pain and fatigue evaluated on 0-10 numerical rating scales (NRS) were compared between groups. Results: In study 1, tongue-disabled patients performed poorer than healthy controls (P=0.005) and with a trend of a gender difference (P=0.046). In study 2, healthy...

  3. A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles

    Directory of Open Access Journals (Sweden)

    Kuniyuki Nakamura

    2015-01-01

    Full Text Available We herein report the finding of a 62-year-old male, who developed dysarthria and dysphagia, with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy- (CADASIL- like cerebral lesions. He also suffered from slowly progressive renal failure with the findings of granular deposits similar to electron-dense granular osmiophilic material in the renal arterioles. We found a novel heterozygous missense mutation of the NOTCH3 gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. The noncysteine substitution may underlie the pathogenesis of white matter lesions in the brain and of the chronic renal failure in the present case.

  4. Opercular myoclonic-anarthric status epilepticus: A report of two cases

    Directory of Open Access Journals (Sweden)

    Janapareddy Vijaya Bhaskara Rao

    2013-01-01

    Full Text Available Opercular myoclonic-anarthric status epilepticus (OMASE is an uncommon disorder of diverse etiology. This condition is characterized by fluctuating cortical dysarthria associated with epileptic myoclonus involving glossopharyngeal musculature bilaterally. We report two cases of OMASE of vascular etiology in adults. In both patients, ictally clonic expression was consistent with epilepsia partialis continua and bilateral, symmetrical involvement of soft palate in one patient and tongue, lips, chin and inferior jaw in both patients due to bilateral projections of the inferior corticonuclear pathways. The inferior rolandic area of dominant and high frontal region in non-dominant hemispheres were involved by an epileptogenic lesion of vascular etiology, which was confirmed by magnetic resonance imaging of brain and single photon emission computerized tomography. Carotid Doppler study showed thrombosis of internal carotid artery in both patients, suggestive of an embolic origin. Early recognition of OMASE is important for early management of carotid occlusive disease.

  5. Psycholinguistic and motor theories of apraxia of speech.

    Science.gov (United States)

    Ziegler, Wolfram

    2002-11-01

    This article sketches the relationships between modern conceptions of apraxia of speech (AOS) and current models of neuromotor and neurolinguistic disorders. The first section is devoted to neurophysiological perspectives of AOS, and its relation to dysarthrias and to limb apraxia is discussed. The second section introduces the logogen model and considers AOS in relation to supramodal aspects of aphasia. In the third section, AOS with the background of psycholinguistic models of spoken language production, including the Levelt model and connectionist models, is discussed. In the fourth section, the view of AOS as a disorder of speech motor programming is discussed against the background of theories from experimental psychology. The final section considers two models of speech motor control and their relation to AOS. The article discusses the strengths and weaknesses of these approaches.

  6. Ataxia with Vitamin E Deficiency in Norway

    Directory of Open Access Journals (Sweden)

    Areej Elkamil

    2015-01-01

    Full Text Available Objective Ataxia with vitamin E deficiency (AVED is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy. Methods We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case. Results A newly published prevalence study of hereditary ataxias (total of 171 subjects found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4–5 years and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA. All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case. Conclusions We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.

  7. Group climate in the voice therapy of patients with Parkinson's Disease.

    Science.gov (United States)

    Diaféria, Giovana; Madazio, Glaucya; Pacheco, Claudia; Takaki, Patricia Barbarini; Behlau, Mara

    2017-09-04

    To verify the impact that group dynamics and coaching strategies have on the PD patients voice, speech and communication, as well as the group climate. 16 individuals with mild to moderate dysarthria due to the PD were divided into two groups: the CG (8 patients), submitted to traditional therapy with 12 regular therapy sessions plus 4 additional support sessions; and the EG (8 patients), submitted to traditional therapy with 12 regular therapy sessions plus 4 sessions with group dynamics and coaching strategies. The Living with Dysarthria questionnaire (LwD), the self-evaluation of voice, speech and communication, and the perceptual-auditory analysis of the vocal quality were assess in 3 moments: pre-traditional therapy (pre); post-traditional therapy (post 1); and post support sessions/coaching strategies (post 2); in post 1 and post 2 moments, the Group Climate Questionnaire (GCQ) was also applied. CG and EG showed an improvement in the LwD from pre to post 1 and post 2 moments. Voice self-evaluation was better for the EG - when pre was compared with post 2 and when post 1 was compared with post 2 - ranging from regular to very good; both groups presented improvement in the communication self-evaluation. The perceptual-auditory evaluation of the vocal quality was better for the EG in the post 1 moment. No difference was found for the GCQ; however, the EG presented lower avoidance scores in post 2. All patients showed improvement in the voice, speech and communication self-evaluation; EG showed lower avoidance scores, creating a more collaborative and propitious environment for speech therapy.

  8. Proton magnetic resonance spectroscopy and single photon emission CT in patients with olivopontocerebellar atrophy

    International Nuclear Information System (INIS)

    Ikuta, Naomi

    1998-01-01

    Using proton magnetic resonance spectroscopy ( 1 H-MRS) and single photon emission CT (SPECT), the cerebellum of patients with olivopontocerebellar atrophy (OPCA) and of age-matched control subjects was studied. A spectrum was collected from a 27 cm 3 (3 x 3 x 3 cm) voxel in the cerebellum containing white and gray matters in order to measure the distribution and relative signal intensities of N-acetylaspartate (NAA), creatine (Cre) and choline (Cho). In the cerebellum of the patients with OPCA, mean NAA/Cre ratios for OPCA patients were significantly decreased compared with normal control subjects (OPCA, 1.01±0.247; controls, 1.526±0.144: p<0.001). Mean NAA/Cho ratios for OPCA patients were slightly decreased (OPCA, 1.285±0.228; controls 1.702±0.469: p<0.06). Cho/Cre ratios valued in the cerebellum of OPCA patients were not significantly different from those in normal controls (OPCA, 0.793±0.186; controls, 0.946±0.219). The ratio of RI count in the cerebellum to that in the occipital lobe was significantly decreased in OPCA patients (OPCA, 0.947±0.096; controls, 1.06±0.063: p<0.01). Cerebellar signs were assessed including gait ataxia, limb ataxia, dysarthria, saccadic pursuit, and nystagmus separately or in combination. In patients with more severe ataxic gait and dysarthria, MRS revealed slightly lowered NAA/Cre ratio. There was no significant correlation between NAA/Cre ratio and severity of other clinical signs. The MRS and SPECT findings give a confirmative evidence of hypofunction in cerebellum of patients with OPCA. (author)

  9. In vivo signatures of nonfluent/agrammatic primary progressive aphasia caused by FTLD pathology

    Science.gov (United States)

    Caso, Francesca; Mandelli, Maria Luisa; Henry, Maya; Gesierich, Benno; Bettcher, Brianne M.; Ogar, Jennifer; Filippi, Massimo; Comi, Giancarlo; Magnani, Giuseppe; Sidhu, Manu; Trojanowski, John Q.; Huang, Eric J.; Grinberg, Lea T.; Miller, Bruce L.; Dronkers, Nina; Seeley, William W.

    2014-01-01

    Objective: To identify early cognitive and neuroimaging features of sporadic nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) caused by frontotemporal lobar degeneration (FTLD) subtypes. Methods: We prospectively collected clinical, neuroimaging, and neuropathologic data in 11 patients with sporadic nfvPPA with FTLD-tau (nfvPPA-tau, n = 9) or FTLD–transactive response DNA binding protein pathology of 43 kD type A (nfvPPA-TDP, n = 2). We analyzed patterns of cognitive and gray matter (GM) and white matter (WM) atrophy at presentation in the whole group and in each pathologic subtype separately. We also considered longitudinal clinical data. Results: At first evaluation, regardless of pathologic FTLD subtype, apraxia of speech (AOS) was the most common cognitive feature and atrophy involved the left posterior frontal lobe. Each pathologic subtype showed few distinctive features. At presentation, patients with nfvPPA-tau presented with mild to moderate AOS, mixed dysarthria with prominent hypokinetic features, clear agrammatism, and atrophy in the GM of the left posterior frontal regions and in left frontal WM. While speech and language deficits were prominent early, within 3 years of symptom onset, all patients with nfvPPA-tau developed significant extrapyramidal motor signs. At presentation, patients with nfvPPA-TDP had severe AOS, dysarthria with spastic features, mild agrammatism, and atrophy in left posterior frontal GM only. Selective mutism occurred early, when general neurologic examination only showed mild decrease in finger dexterity in the right hand. Conclusions: Clinical features in sporadic nfvPPA caused by FTLD subtypes relate to neurodegeneration of GM and WM in frontal motor speech and language networks. We propose that early WM atrophy in nfvPPA is suggestive of FTLD-tau pathology while early selective GM loss might be indicative of FTLD-TDP. PMID:24353332

  10. Validation of minor stroke definitions for thrombolysis decision making.

    Science.gov (United States)

    Park, Tai Hwan; Hong, Keun-Sik; Choi, Jay Chol; Song, Pamela; Lee, Ji Sung; Lee, Juneyoung; Park, Jong-Moo; Kang, Kyusik; Lee, Kyung Bok; Cho, Yong-Jin; Saposnik, Gustavo; Han, Moon-Ku; Bae, Hee-Joon

    2013-05-01

    Patients with low National Institutes of Health Stroke Scale (NIHSS) scores are frequently excluded from thrombolysis, but more than 25% of them remain disabled. We sought to define a validated minor stroke definition to reduce the inappropriate treatment exclusion. From an outcome database, untreated patients with an NIHSS score of 5 or less presenting within a 4.5-hour window were identified and 3-month modified Rankin Scale (mRS) outcomes were analyzed according to individual isolated symptoms and total NIHSS scores. The validity of the following minor stroke definitions were assessed: (1) the National Institute of Neurological Disorders and Stroke Tissue Plasminogen Activator (NINDS-TPA) trials' definition, (2) the total NIHSS score, varying a cutoff point from 0 to 4, and (3) our proposed definition that included an NIHSS score = 0 or an NIHSS score = 1 on the items of level of consciousness (LOC), gaze, facial palsy, sensory, or dysarthria. Of 647 patients, 172 patients (26.6%) had a 3-month unfavorable outcome (mRS score 2-6). Favorable outcome was achieved in more than 80% of patients with an NIHSS score of 1 or less or with an isolated symptom on the LOC, gaze, facial palsy, sensory, or dysarthria item. In contrast, unfavorable outcome proportion was more than 25% in patients with an NIHSS score of 2 or more. When the NINDS-TPA trials' definition, our definition, or the definition of an NIHSS score of 1 or less were applied, more than 75% of patients with an unfavorable outcome were defined as a non-minor stroke and less than 15% of patients with an unfavorable outcome were defined as a minor stroke. Implementation of an optimal definition of minor stroke into thrombolysis decision-making process would decrease the unfavorable outcomes in patients with low NIHSS scores. Copyright © 2013 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  11. Brain Stem Infarction Due to Basilar Artery Dissection in a Patient with Moyamoya Disease Four Years after Successful Bilateral Revascularization Surgeries.

    Science.gov (United States)

    Abe, Takatsugu; Fujimura, Miki; Mugikura, Shunji; Endo, Hidenori; Tominaga, Teiji

    2016-06-01

    Moyamoya disease (MMD) is a rare cerebrovascular disease with an unknown etiology and is characterized by intrinsic fragility in the intracranial vascular walls such as the affected internal elastic lamina and thinning medial layer. The association of MMD with intracranial arterial dissection is extremely rare, whereas that with basilar artery dissection (BAD) has not been reported previously. A 46-year-old woman developed brain stem infarction due to BAD 4 years after successful bilateral superficial temporal artery-middle cerebral artery anastomosis with indirect pial synangiosis for ischemic-onset MMD. She presented with sudden occipitalgia and subsequently developed transient dysarthria and mild hemiparesis. Although a transient ischemic attack was initially suspected, her condition deteriorated in a manner that was consistent with left hemiplegia with severe dysarthria. Magnetic resonance (MR) imaging revealed brain stem infarction, and MR angiography delineated a double-lumen sign in the basilar artery, indicating BAD. She was treated conservatively and brain stem infarction did not expand. One year after the onset of brain stem infarction, her activity of daily living is still dependent (modified Rankin Scale of 4), and there were no morphological changes associated with BAD or recurrent cerebrovascular events during the follow-up period. The association of MMD with BAD is extremely rare. While considering the common underlying pathology such as an affected internal elastic lamina and fragile medial layer, the occurrence of BAD in a patient with MMD in a stable hemodynamic state is apparently unique. Copyright © 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  12. Diagnostic Utility of Contrast-enhanced 3D T1-weighted Imaging in Acute Cerebral Infarction Associated with Graves Disease.

    Science.gov (United States)

    Gon, Yasufumi; Sakaguchi, Manabu; Oyama, Naoki; Mochizuki, Hideki

    2017-02-01

    Graves disease is rarely complicated with cerebrovascular steno-occlusive diseases. Previous studies have suggested several hypotheses for this occurrence, including excess thyroid hormone, which stimulates the sympathetic nervous system, which in turn causes an abnormal hemodynamic response with consequent atherosclerotic changes, and antithyroid antibodies cause local vascular inflammation in patients with Graves disease. However, radiological findings of vasculitis in patients with Graves disease and cerebral infarction remain less known. We report the case of a 30-year-old Japanese woman with acute cerebral infarction due to vasculitis associated with Graves disease. She was admitted to our hospital with a 4-day history of intermittent transient dysarthria and limb shaking of the left leg when standing. Three weeks before admission, she went to a local hospital because of general malaise and was diagnosed with Graves disease. Neurological examination revealed paralytic dysarthria, left central facial nerve palsy, and left hemiparesis (manual muscle testing, 4 of 5). Blood examinations showed hyperthyroidism (thyroid-stimulating hormone ≤.010 µU/mL; free T3 ≥25.0 pg/mL; free T4 ≥8.0 ng/dL) and elevation of antithyroid antibody levels (thyroid peroxidase antibody, 87 IU/mL). The vessel wall of the right internal carotid artery was markedly enhanced on contrast-enhanced three-dimensional T1-weighted magnetic resonance imaging, suggesting vasculitis. Magnetic resonance angiography revealed right internal carotid artery occlusion after the branching ophthalmic artery. Arterial stenosis due to vasculitis was considered the cause of hemodynamic ischemic stroke. Vessel wall imaging such as high-resolution contrast-enhanced T1-weighted imaging seems useful for assessing the underlying mechanism of stroke in patients with Graves disease. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  13. Exploring Australian speech-language pathologists' use and perceptions ofnon-speech oral motor exercises.

    Science.gov (United States)

    Rumbach, Anna F; Rose, Tanya A; Cheah, Mynn

    2018-01-29

    To explore Australian speech-language pathologists' use of non-speech oral motor exercises, and rationales for using/not using non-speech oral motor exercises in clinical practice. A total of 124 speech-language pathologists practising in Australia, working with paediatric and/or adult clients with speech sound difficulties, completed an online survey. The majority of speech-language pathologists reported that they did not use non-speech oral motor exercises when working with paediatric or adult clients with speech sound difficulties. However, more than half of the speech-language pathologists working with adult clients who have dysarthria reported using non-speech oral motor exercises with this population. The most frequently reported rationale for using non-speech oral motor exercises in speech sound difficulty management was to improve awareness/placement of articulators. The majority of speech-language pathologists agreed there is no clear clinical or research evidence base to support non-speech oral motor exercise use with clients who have speech sound difficulties. This study provides an overview of Australian speech-language pathologists' reported use and perceptions of non-speech oral motor exercises' applicability and efficacy in treating paediatric and adult clients who have speech sound difficulties. The research findings provide speech-language pathologists with insight into how and why non-speech oral motor exercises are currently used, and adds to the knowledge base regarding Australian speech-language pathology practice of non-speech oral motor exercises in the treatment of speech sound difficulties. Implications for Rehabilitation Non-speech oral motor exercises refer to oral motor activities which do not involve speech, but involve the manipulation or stimulation of oral structures including the lips, tongue, jaw, and soft palate. Non-speech oral motor exercises are intended to improve the function (e.g., movement, strength) of oral structures. The

  14. A novel NREM and REM parasomnia with sleep breathing disorder associated with antibodies against IgLON5: a case series, pathological features, and characterization of the antigen

    Science.gov (United States)

    Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis; Lewerenz, Jan; Torres-Vega, Estefanía; Contreras, Angeles; Giometto, Bruno; Compta, Yaroslau; Embid, Cristina; Vilaseca, Isabel; Iranzo, Alex; Santamaría, Joan; Dalmau, Josep; Graus, Francesc

    2014-01-01

    Summary Background Autoimmunity may be involved in sleep and neurodegenerative disorders. We aimed to describe a neurological syndrome with prominent sleep dysfunction and antibodies to a previously unknown neuronal antigen. Methods In this observational study, clinical and video-polysomnography (V- PSG) investigations identified a novel sleep disorder in three patients referred to the Sleep Unit of Hospital Clinic University of Barcelona for abnormal sleep behaviors and obstructive sleep apnea(OSA). They had antibodies against a neuronal surface antigen also present in five additional patients referred to our laboratory for antibody studies. These five patients had been evaluated with PSG and in two, the study was done or reviewed in our Sleep Unit. Two patients underwent postmortem brain examination. Immunoprecipitation and mass spectrometry were used to characterize the antigen and to develop a diagnostic test. Serum or CSF from 285 patients with neurodegenerative, sleep, or autoimmune disorders served as controls. Findings All eight patients (five women; range: 52–76 years, median 59) had abnormal sleep movements and behaviors and OSA confirmed by PSG. Six patients had a chronic evolution (range 2–12 years, median 5.5); in four the sleep disorder was the initial and most prominent feature, and in two it was preceded by gait instability, and followed by dysarthria, dysphagia, ataxia, or chorea. Two patients had a rapid evolution with disequilibrium, dysarthria, dysphagia, and central hypoventilation, and died two and six months after symptom onset. In 5/5 patients, the V-PSG reviewed in our Unit disclosed OSA, stridor, and abnormal sleep architecture with undifferentiated NREM sleep or poorly structured stage N2 with simple movements and finalistic behaviors, normalization of NREM sleep by the end of the night, and REM sleep behavior disorder. Four/4 patients carried the HLA-DRB1*1001 and HLA-DQB1*0501 alleles. All patients had antibodies (mainly IgG4

  15. Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

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    Fujioka Shinsuke

    2011-05-01

    Full Text Available Abstract Type I autosomal dominant cerebellar ataxia (ADCA is a type of spinocerebellar ataxia (SCA characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. The global prevalence of this disease is not known. The most common type I ADCA is SCA3 followed by SCA2, SCA1, and SCA8, in descending order. Founder effects no doubt contribute to the variable prevalence between populations. Onset is usually in adulthood but cases of presentation in childhood have been reported. Clinical features vary depending on the SCA subtype but by definition include ataxia associated with other neurological manifestations. The clinical spectrum ranges from pure cerebellar signs to constellations including spinal cord and peripheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmologic signs, psychiatric problems, and seizures. Cerebellar ataxia can affect virtually any body part causing movement abnormalities. Gait, truncal, and limb ataxia are often the most obvious cerebellar findings though nystagmus, saccadic abnormalities, and dysarthria are usually associated. To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA. Type I ADCA can be further divided based on the proposed pathogenetic mechanism into 3 subclasses: subclass 1 includes type I ADCA caused by CAG repeat expansions such as SCA1-SCA3, SCA17, and DRPLA, subclass 2 includes trinucleotide repeat expansions that fall outside of the protein-coding regions of the disease gene including SCA8, SCA10 and SCA12. Subclass 3 contains disorders caused by specific gene deletions, missense mutation, and nonsense mutation and includes SCA13, SCA14, SCA15/16, SCA27 and SCA28. Diagnosis is based on clinical history, physical

  16. Short-term prognosis for speech and language in first stroke patients Prognóstico em curto prazo para fala e linguagem em pacientes acometidos de infarto cerebral único

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    Fabricio F. Oliveira

    2009-09-01

    Full Text Available OBJECTIVE: To evaluate the factors that can influence evolution of communication after a first stroke. METHOD: Thirty-seven adult patients were evaluated for speech and language within 72 hours after a single first-ever ischemic brain injury and later on. Patients who were comatose, with decompensated systemic diseases, or history of chronic alcoholism or illicit drug use were not included. Brain CT and/or 2T-MR exams were solicited for topographic correlation. Size of infarct was classified as large or small according to the TOAST classification. RESULTS: Patients who survived had lesser chances of presenting with aphasia or dysarthria 3 months after the stroke if the infarct size was small (p=0.017. Gender, age, schooling, aphasia subtype, infarct side and topography were non-significant in our sample. Subjects with global aphasia or lone cortical dysarthria had a slower evolution. CONCLUSION: Brain injury size was the most influential factor for neurological outcome at 3 months post-stroke.OBJETIVO: Avaliar os fatores que podem influenciar o desempenho neurolinguístico após um primeiro acidente vascular cerebral isquêmico. MÉTODO: Foram avaliados 37 pacientes quanto a fala e linguagem dentro de 72 horas após um primeiro infarto cerebral e posteriormente. Pacientes comatosos, com doenças sistêmicas descompensadas, história de etilismo crônico ou uso de drogas ilícitas não foram incluídos. TC e/ou RMN-2T cerebrais foram solicitadas para correlação topográfica. Utilizou-se a classificação TOAST para o tamanho do infarto (grande ou pequeno. RESULTADOS: Sobreviventes tiveram menores chances de apresentarem-se afásicos ou disártricos 3 meses após o evento agudo caso o infarto fosse pequeno (p=0.017. Gênero, idade, escolaridade, subtipo de afasia, lado e topografia da lesão cerebral não foram fatores estatisticamente significativos. Pacientes portadores de afasia global ou disartria cortical isolada evoluíram mais lentamente

  17. Outcomes of physical therapy, speech pathology, and occupational therapy for people with motor neuron disease: a systematic review.

    Science.gov (United States)

    Morris, Meg E; Perry, Alison; Bilney, Belinda; Curran, Andrea; Dodd, Karen; Wittwer, Joanne E; Dalton, Gregory W

    2006-09-01

    This article describes a systematic review and critical evaluation of the international literature on the effects of physical therapy, speech pathology, and occupational therapy for people with motor neuron disease (PwMND). The results were interpreted using the framework of the International Classification of Functioning, Disability and Health. This enabled us to summarize therapy outcomes at the level of body structure and function, activity limitations, participation restrictions, and quality of life. Databases searched included MEDLINE, PUBMED, CINAHL, PSYCInfo, Data base of Abstracts of Reviews of Effectiveness (DARE), The Physiotherapy Evidence data base (PEDro), Evidence Based Medicine Reviews (EMBASE), the Cochrane database of systematic reviews, and the Cochrane Controlled Trials Register. Evidence was graded according to the Harbour and Miller classification. Most of the evidence was found to be at the level of "clinical opinion" rather than of controlled clinical trials. Several nonrandomized small group and "observational studies" provided low-level evidence to support physical therapy for improving muscle strength and pulmonary function. There was also some evidence to support the effectiveness of speech pathology interventions for dysarthria. The search identified a small number of studies on occupational therapy for PwMND, which were small, noncontrolled pre-post-designs or clinical reports.

  18. Oral motor functions, speech and communication before a definitive diagnosis of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Makkonen, Tanja; Korpijaakko-Huuhka, Anna-Maija; Ruottinen, Hanna; Puhto, Riitta; Hollo, Kirsi; Ylinen, Aarne; Palmio, Johanna

    2016-01-01

    The aim of this study was to explore the cranial nerve symptoms, speech disorders and communicative effectiveness of Finnish patients with diagnosed or possible amyotrophic lateral sclerosis (ALS) at their first assessment by a speech-language pathologist. The group studied consisted of 30 participants who had clinical signs of bulbar deterioration at the beginning of the study. They underwent a thorough clinical speech and communication examination. The cranial nerve symptoms and ability to communicate were compared in 14 participants with probable or definitive ALS and in 16 participants with suspected or possible ALS. The initial type of ALS was also assessed. More deterioration in soft palate function was found in participants with possible ALS than with diagnosed ALS. Likewise, a slower speech rate combined with more severe dysarthria was observed in possible ALS. In both groups, there was some deterioration in communicative effectiveness. In the possible ALS group the diagnostic delay was longer and speech therapy intervention actualized later. The participants with ALS showed multidimensional decline in communication at their first visit to the speech-language pathologist, but impairments and activity limitations were more severe in suspected or possible ALS. The majority of persons with bulbar-onset ALS in this study were in the latter diagnostic group. This suggests that they are more susceptible to delayed diagnosis and delayed speech therapy assessment. It is important to start speech therapy intervention during the diagnostic processes particularly if the person already shows bulbar symptoms. Copyright © 2016. Published by Elsevier Inc.

  19. Bilateral symmetrical low density areas in the striatum

    International Nuclear Information System (INIS)

    Okabe, Ichiro; Shimoizumi, Hideo; Miyao, Masutomo; Kamoshita, Shigehiko

    1986-01-01

    A 10-year-old boy, who showed low density areas at bilateral striatal portion on brain CT, was reported. Characteristic clinical features were summarized as follows: 1. Onset in childhood (3 years old), 2. gait disturbance, dysarthria, involuntaly movement such as choreoathetosis and dystonia, 3. mild mental retardation (IQ 70), and 4. slowly progressive course over several years. Family history was unremarkable. His parents were not consanguineous. He was well until 3 years old, when he developed gait disturbance. At the age of 4, CT showed hypodensity lesions in the bilateral putamens, and right caudate was involved at 7, followed by bilateral caudate involvements at 10. Laboratory findings including blood lactate, pyruvate, serum copper, ceruloplasmin, aminoacids, urine and CSF catecholamines were within normal limits. TRH and thiamine therapies were ineffective L-dopa was slightly effective in movements, but symptoms were slowly progressive. We reviewed fourteen reported cases which were similar to our case in their onset, symptoms, clinical course and CT findings. Although the etiology was unknown, this case is possibly a new disease entity. (author)

  20. A case of suspected 'Bickerstaff's encephalitis' and its CT findings

    International Nuclear Information System (INIS)

    Moto, Atsufumi; Endo, Shunro; Ohmori, Tomoaki; Oka, Nobuo; Takaku, Akira

    1985-01-01

    A case of suspected ''Bickerstaff's encephalitis'' was presented with special reference to the CT findings. A 4-year-old girl exhibited fever and nausea after the beginning of December, 1983, followed by unsteady gait on January 1, 1984. She was admitted to another hospital and diagnosed by means of a spinalfluid examination as having aseptic meningitis. Her symptoms subsided transiently, but then she began again to suffer recurrently from unsteady gait on January 27. After that she developed dysarthria and dysphagia, a disturbance of eye movement was observed, and she became lethargic and disoriented. On February 6, she was transferred to our hospital. Plain CT scan on admission revealed a low-density area on the left cerebellar peduncle and the inferior medial part of the left temporal lobe. Moreover, the low-density area was heterogenously enhanced with the contrast medium. Angiography showed no abnormal findings. Considering these CT findings, we suspected a pontine tumor. Four days after her admission, however, her symptoms and signs began rapidly to subside, and also the abnormal findings on the CT scan diminished gradually as the symptoms were relieved. On March 2, she was discharged without any neurological abnormality. (author)

  1. Forma intermediária de síndrome de Foix-Chavany-Marie / síndrome de Worster-Drought associada a movimentos involuntários: aspectos neuropsicológicos e fonoaudiológicos Intermediary form of Foix-Chavany-Marie / Worster-Drought syndromes associated to involuntary movements: neuropsychological and phonoaudiological features

    Directory of Open Access Journals (Sweden)

    Marcio Gadelha Vasconcelos

    2006-06-01

    Full Text Available A síndrome de Foix-Chavany-Marie (SFCM caracteriza-se por apraxia da fala associada à paralisia bilateral da face, palato mole, língua e musculatura da faringe, mas com preservação das funções reflexas e automáticas. Na síndrome de Worster-Drought (SWD, há predomínio da disartria. Descrevemos o caso de uma jovem de 18 anos, que apresenta os achados clínicos e radiológicos compatíveis com a forma intermediária de SFCM/SWD, acompanhados de movimentos involuntários (coréia e distonia, fato de ocorrência rara na descrição destas síndromes.The Foix-Chavany-Marie syndrome (FCMS is characterized by apraxia of speech associated to bilateral central facio-linguo-velo-pharyngeal paralysis, with automatic-voluntary dissociation. In Worster-Drought Syndrome (WDS, dysarthria is remarkable. We report an 18-year-old female, with clinical and radiological findings of intermediary form of FCMS/WDS, and showing involuntary movements, an unusual fact.

  2. Primary progressive apraxia of speech: clinical features and acoustic and neurologic correlates.

    Science.gov (United States)

    Duffy, Joseph R; Strand, Edythe A; Clark, Heather; Machulda, Mary; Whitwell, Jennifer L; Josephs, Keith A

    2015-05-01

    This study summarizes 2 illustrative cases of a neurodegenerative speech disorder, primary progressive apraxia of speech (AOS), as a vehicle for providing an overview of the disorder and an approach to describing and quantifying its perceptual features and some of its temporal acoustic attributes. Two individuals with primary progressive AOS underwent speech-language and neurologic evaluations on 2 occasions, ranging from 2.0 to 7.5 years postonset. Performance on several tests, tasks, and rating scales, as well as several acoustic measures, were compared over time within and between cases. Acoustic measures were compared with performance of control speakers. Both patients initially presented with AOS as the only or predominant sign of disease and without aphasia or dysarthria. The presenting features and temporal progression were captured in an AOS Rating Scale, an Articulation Error Score, and temporal acoustic measures of utterance duration, syllable rates per second, rates of speechlike alternating motion and sequential motion, and a pairwise variability index measure. AOS can be the predominant manifestation of neurodegenerative disease. Clinical ratings of its attributes and acoustic measures of some of its temporal characteristics can support its diagnosis and help quantify its salient characteristics and progression over time.

  3. Pure apraxia of speech due to infarct in premotor cortex.

    Science.gov (United States)

    Patira, Riddhi; Ciniglia, Lauren; Calvert, Timothy; Altschuler, Eric L

    Apraxia of speech (AOS) is now recognized as an articulation disorder distinct from dysarthria and aphasia. Various lesions have been associated with AOS in studies that are limited in precise localization due to variability in size and type of pathology. We present a case of pure AOS in setting of an acute stroke to localize more precisely than ever before the brain area responsible for AOS, dorsal premotor cortex (dPMC). The dPMC is in unique position to plan and coordinate speech production by virtue of its connection with nearby motor cortex harboring corticobulbar tract, supplementary motor area, inferior frontal operculum, and temporo-parietal area via the dorsal stream of dual-stream model of speech processing. The role of dPMC is further supported as part of dorsal stream in the dual-stream model of speech processing as well as controller in the hierarchical state feedback control model. Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  4. Altered resting-state network connectivity in stroke patients with and without apraxia of speech.

    Science.gov (United States)

    New, Anneliese B; Robin, Donald A; Parkinson, Amy L; Duffy, Joseph R; McNeil, Malcom R; Piguet, Olivier; Hornberger, Michael; Price, Cathy J; Eickhoff, Simon B; Ballard, Kirrie J

    2015-01-01

    Motor speech disorders, including apraxia of speech (AOS), account for over 50% of the communication disorders following stroke. Given its prevalence and impact, and the need to understand its neural mechanisms, we used resting state functional MRI to examine functional connectivity within a network of regions previously hypothesized as being associated with AOS (bilateral anterior insula (aINS), inferior frontal gyrus (IFG), and ventral premotor cortex (PM)) in a group of 32 left hemisphere stroke patients and 18 healthy, age-matched controls. Two expert clinicians rated severity of AOS, dysarthria and nonverbal oral apraxia of the patients. Fifteen individuals were categorized as AOS and 17 were AOS-absent. Comparison of connectivity in patients with and without AOS demonstrated that AOS patients had reduced connectivity between bilateral PM, and this reduction correlated with the severity of AOS impairment. In addition, AOS patients had negative connectivity between the left PM and right aINS and this effect decreased with increasing severity of non-verbal oral apraxia. These results highlight left PM involvement in AOS, begin to differentiate its neural mechanisms from those of other motor impairments following stroke, and help inform us of the neural mechanisms driving differences in speech motor planning and programming impairment following stroke.

  5. Gastrointestinal Hemorrhage Related to Fluoxetine in a Patient With Stroke.

    Science.gov (United States)

    Wee, Tze Chao

    2017-11-01

    We report on a patient who developed massive gastrointestinal hemorrhage related to the use of fluoxetine in combination with aspirin and clopidogrel. A 58-year-old man was admitted with a posterior circulation infarct with significant weakness in all four limbs and dysarthria. Aspirin and clopidogrel were started. Fluoxetine was started for pharmacological neurostimulation to promote motor recovery and for low mood. He developed gastrointestinal hemorrhage a week after fluoxetine was started. Fluoxetine was suspended and investigations failed to reveal the source of the bleeding. He was then restarted on fluoxetine along with dual antiplatelets, and gastrointestinal hemorrhage recurred after 1 week. He was extensively investigated for a source of gastrointestinal hemorrhage, and again no source could be identified. Eventually, fluoxetine was switched to mirtazapine with no further gastrointestinal hemorrhage. He remained on dual antiplatelets. A number of case-control and cohort studies had identified the association of gastrointestinal hemorrhage with the use of selective serotonin reuptake inhibitor (SSRI). We hope to raise awareness of this association in physical medicine and rehabilitation physicians as the use of SSRI is expected to rise.

  6. Spontaneous coronary artery dissection presenting as an ischaemic stroke in a middle-aged man with anti-cardiolipin antibodies: a case report

    Directory of Open Access Journals (Sweden)

    Lim F

    2010-03-01

    Full Text Available Abstract Introduction Cerebrovascular disease is a major cause of mortality and morbidity worldwide. Ischemic stroke is the most common manifestation, encompassing a wide variety of causative mechanisms. We present the case of a middle-aged male patient with spontaneous coronary artery dissection in the presence of anti-cardiolipin antibodies, leading to left ventricular thrombus and presenting with stroke. Case presentation A 56-year-old Caucasian man presented with dysarthria and right-sided weakness. There was a history of chest pain with autonomic symptoms four days earlier. Examination revealed right-sided hemiparesis. Electrocardiogram showed sinus rhythm with anterior Q waves. Magnetic resonance imaging of the brain showed large left parietal and smaller multiple cerebral infarcts. Echocardiogram showed anterior wall and apical akinesis with a large mural thrombus. Anti-cardiolipin antibodies immunoglobulin G and immunoglobulin M were strongly positive. Coronary angiography showed dissection of the mid left anterior descending artery with normal flow down the distal vessel. He was treated conservatively with anticoagulation and secondary prevention. He was in good health when seen in clinic four months later. Conclusion We highlight the importance of a comprehensive approach at obtaining the correct diagnosis, input of different specialities and the fact that the presence of anti-cardiolipin antibodies is associated with coronary artery dissection in a middle-aged male patient whose presentation was stroke.

  7. Incidence and diagnosis of anosognosia for hemiparesis revisited

    Science.gov (United States)

    Baier, B; Karnath, H

    2005-01-01

    Background: In previous studies, the incidence of anosognosia for hemiparesis has varied between 17% and 58% in samples of brain damaged patients with hemiparesis. Objective: To determine whether this wide variation might be explained by the different criteria used for diagnosing anosognosia. Methods: 128 acute stroke patients with hemiparesis or hemiplegia were tested for anosognosia for hemiparesis using the anosognosia scale of Bisiach et al. Results: 94% of the patients who were rated as having "mild anosognosia"—that is, they did not acknowledge their hemiparesis spontaneously following a general question about their complaints—suffered from, and mentioned, other neurological deficits such as dysarthria, ptosis, or headache. However, they immediately acknowledged their paresis when they were asked about the strength of their limbs. Their other deficits clearly had a greater impact. These patients had significantly milder paresis than those who denied their disorder even when asked directly about their limbs. Conclusions: Patients who do not mention their paresis spontaneously but do so when questioned about it directly should not be diagnosed having "anosognosia." If this more conservative cut off criterion is applied to the data of the present as well as previous studies, a frequency of between 10% and 18% for anosognosia for hemiparesis is obtained in unselected samples of acute hemiparetic stroke patients. The incidence thus seems smaller than previously assumed. PMID:15716526

  8. Isolated transient aphasia at emergency presentation is associated with a high rate of cardioembolic embolism.

    Science.gov (United States)

    Wasserman, Jason K; Perry, Jeffrey J; Dowlatshahi, Dar; Stotts, Grant; Sivilotti, Marco L A; Worster, Andrew; Emond, Marcel; Sutherland, Jane; Stiell, Ian G; Sharma, Mukul

    2015-11-01

    A cardiac source is often implicated in strokes where the deficit includes aphasia. However, less is known about the etiology of isolated aphasia during transient ischemic attack (TIA). Our objective was to determine whether patients with isolated aphasia are likely to have a cardioembolic etiology for their TIA. We prospectively studied a cohort of TIA patients in eight tertiary-care emergency departments. Patients with isolated aphasia were identified by the treating physician at the time of emergency department presentation. Patients with dysarthria (i.e., a phonation disturbance) were not included. Potential cardiac sources for embolism were defined as atrial fibrillation on history, electrocardiogram, Holter monitor, atrial fibrillation on echocardiography, or thrombus on echocardiography. Of the 2,360 TIA patients identified, 1,155 had neurological deficits at the time of the emergency physician assessment and were included in this analysis, and 41 had isolated aphasia as their only neurological deficit. Patients with isolated aphasia were older (73.9±10.0 v. 67.2±14.5 years; p=0.003), more likely to have a history of heart failure (9.8% v. 2.6%; p=0.027), and were twice as likely to have any cardiac source of embolism (22.0% v. 10.6%; p=0.037). Isolated aphasia is associated with a high rate of cardioembolic sources of embolism after TIA. Emergency patients with isolated aphasia diagnosed with a TIA warrant a rapid and thorough assessment for a cardioembolic source.

  9. Aphasia following anterior cerebral artery occlusion

    International Nuclear Information System (INIS)

    Shimosaka, Shinichi; Waga, Shiro; Kojima, Tadashi; Shimizu, Takeo; Morikawa, Atsunori

    1982-01-01

    We have report two cases of aphasia that had infarcts in the distribution of the left or right anterior cerebral artery, as confirmed by computed tomography. Case 1 is a right-handed, 65-year-old man in whom computerized tomographic scanning revealed an infarction of the territory of the left anterior cerebral artery after the clipping of the anterior communicating artery aneurysm. The standard language test of aphasia (SLTA) revealed non-fluent aphasia with dysarthria, good comprehension, almost normal repetition with good articulation, and a defectiveness in writing. This syndrome was considered an instance of transcortical motor aphasia. Although three years had passed from the onset, his aphasia did not show any improvement. Case 2 is a 37-year-old man who is right-handed but who can use his left hand as well. He was admitted because of subarachnoid hemorrhage from an anterior communicating aneurysm. Because of postoperative spasm, an infarction in the distribution of the right anterior cerebral artery developed. He was totally unable to express himself vocally, but he could use written language quite well to express his ideas and had a good comprehension of spoken language. This clinical picture was considered that of an aphemia. After several weeks, his vocalization returned, but the initial output was still hypophonic. (J.P.N.)

  10. Lacunar infarcts in childhood

    International Nuclear Information System (INIS)

    Nakano, Chizuko; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo; Kanetoh, Yasuko.

    1984-01-01

    Nine cases, ranging in age from 6 months to 9 years, were diagnosed as lacunar infarcts on computed tomography (CT). Hemiplegia developed rapidly or gradually in 8 cases. Three of 8 cases had transient ischemic attacks of hemiplegia. Other neurological deficits were dysarthria, aphasia, confusion and coarse tremor. One case was asymptomatic. Each of 8 cases had single lacuna and one case two lacunae on CT. These lacunae were localized in the internal capsule, the putamen or the caudate nucleus. Lacunae involving the internal capsule were associated with contralateral hemiplegia, whereas asymptomatic lacunae did not iovolve it. Severity of hemiplegia in the acute stage did not correlate with localization or size of lacunae. Moderate neurological sequelae were noticed in 3 cases, mild sequelae in two and none in three. The sequelae were related to the lacunae which involved the lateral lenticulostriate branch zone of the middle cerebral artery or larger areas. Prognosis did not correlate with the mode of onset or the severity of neurological signs in the acute stage. There were 2 cases with the occlusion of the left internal carotid artery or congenital heart disease, but the etiology of lacunae was unknown in the other cases. (author)

  11. New graduates’ perceptions of preparedness to provide speech-language therapy services in general and dysphagia services in particular

    Directory of Open Access Journals (Sweden)

    Shajila Singh

    2015-06-01

    Methods: New graduates of six South African universities were recruited to participate in a survey by completing an electronic questionnaire exploring their perceptions of the dysphagia curricula and their preparedness to practise across the scope of the profession of speechlanguage therapy. Results: Eighty graduates participated in the study yielding a response rate of 63.49%. Participants perceived themselves to be well prepared in some areas (e.g. child language: 100%; articulation and phonology: 97.26%, but less prepared in other areas (e.g. adult dysphagia: 50.70%; paediatric dysarthria: 46.58%; paediatric dysphagia: 38.36% and most unprepared to provide services requiring sign language (23.61% and African languages (20.55%. There was a significant relationship between perceptions of adequate theory and clinical learning opportunities with assessment and management of dysphagia and perceptions of preparedness to provide dysphagia services. Conclusion: There is a need for review of existing curricula and consideration of developing a standard speech-language therapy curriculum across universities, particularly in service provision to a multilingual population, and in both the theory and clinical learning of the assessment and management of adult and paediatric dysphagia, to better equip graduates for practice.

  12. A Case of Complete Recovery of Fluctuating Monocular Blindness Following Endovascular Treatment in Internal Carotid Artery Dissection.

    Science.gov (United States)

    Kim, Ki-Tae; Baik, Seung Guk; Park, Kyung-Pil; Park, Min-Gyu

    2015-09-01

    Monocular blindness may appear as the first symptom of internal carotid artery dissection (ICAD). However, there have been no reports that monocular visual loss repeatedly occurs and disappears in response to postural change in ICAD. A 33-year-old woman presented with transient monocular blindness (TMB) following acute-onset headache. TMB repeatedly occurred in response to postural change. Two days later, she experienced transient dysarthria and right hemiparesis in upright position. Pupil size and light reflex were normal, but a relative afferent pupillary defect was positive in the left eye. Diffusion-weighted imaging showed no acute lesion, but perfusion-weighted imaging showed perfusion delay in the left ICA territory. Digital subtraction angiography demonstrated a false lumen and an intraluminal filling defect in proximal segment of the left ICA. Carotid stenting was performed urgently. After carotid stenting, left relative afferent pupillary defect disappeared and TMB was not provoked anymore by upright posture. At discharge, left visual acuity was completely normalized. Because fluctuating visual symptoms in the ICAD may be associated with hemodynamically unstable status, assessment of the perfusion status should be done quickly. Carotid stenting may be helpful to improve the fluctuating visual symptoms and hemodynamically unstable status in selected patient with the ICAD. Copyright © 2015 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  13. Hereditary motor and sensory neuropathy Lom type in a Serbian family.

    Science.gov (United States)

    Dacković, J; Keckarević-Marković, M; Komazec, Z; Rakocević-Stojanović, V; Lavrnić, D; Stević, Z; Ribarić, K; Romac, S; Apostolski, S

    2008-10-01

    Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones. Both had symptoms of lower limb muscle weakness and walking difficulties with frequent falls, which began at the age of seven. At the age of 12, they developed hearing problems and at the age of 15 hand muscle weakness. Neurological examination revealed sensorineural hearing loss, dysarthria, severe distal and mild proximal muscle wasting and weakness, areflexia and impairment of all sensory modalities of distal distribution. Electrophysiological study revealed denervation with severe and early axonal loss. Sensorineural hearing loss was confirmed on electrocochleography and brainstem evoked potentials. Molecular genetic testing confirmed homozygote C564t (R148X) mutation in NDRG1 gene.

  14. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.

    Science.gov (United States)

    Infante, Jon; García, Antonio; Serrano-Cárdenas, Karla M; González-Aguado, Rocío; Gazulla, José; de Lucas, Enrique M; Berciano, José

    2018-04-25

    The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patients were in the seventh decade of age, their gait imbalance having been initiated in the fifth decade. In four patients cough antedated gait imbalance between 15 and 29 years; cough was spasmodic and triggered by variable factors. Established clinical picture included severe hypopallesthesia predominating in the lower limbs with postural imbalance, and variable degree of cerebellar axial and appendicular ataxia, dysarthria and horizontal gaze-evoked nystagmus. Upper- and lower-limb tendon jerks were preserved, whereas jaw jerk was absent. Vestibular function testing showed bilateral impairment of the vestibulo-ocular reflex. Nerve conduction studies demonstrated normal motor conduction parameters and absence or severe attenuation of sensory nerve action potentials. Somatosensory evoked potentials were absent or severely attenuated. Biceps and femoral T-reflex recordings were normal, while masseter reflex was absent or attenuated. Sympathetic skin responses were normal. Cranial MRI showed vermian and hemispheric cerebellar atrophy predominating in lobules VI, VII and VIIa. We conclude that spasmodic cough may be an integral part of the clinical picture in CANVAS, antedating the appearance of imbalance in several decades and that sparing of muscle spindle afferents (Ia fibres) is probably the pathophysiological basis of normoreflexia.

  15. Adult onset Hallervorden-Spatz disease with psychotic symptoms.

    Science.gov (United States)

    del Valle-López, Pilar; Pérez-García, Rosa; Sanguino-Andrés, Rosa; González-Pablos, Emilio

    2011-01-01

    Hallervorden-Spatz disease is a rare neurological disorder characterized by pyramidal and extrapyramidal manifestations, dysarthria and dementia. Its onset is usually in childhood and most patients have a fatal outcome in few years. A high percentage of cases are hereditary with a recessive autosomal pattern. In the majority of the patients reported, a mutation of the gene that encodes the pantothenate kinase (PANK2) located in the 20p13-p12.3 chromosome that causes iron storage in the basal ganglia of the brain has been found. Its diagnosis is based on clinical symptoms as well as specific MRI imaging findings. The most common psychiatric features are cognitive impairment as well as depressive symptoms. There are few documented cases with psychotic disorders. We present the case of a patient with late onset Hallervorden-Spatz disease and psychotic symptoms that preceded the development of neurological manifestations. The pathophysiology and the treatment of psychotic symptomatology are presented and discussed. Key words: Psicosis, Hallervorden-Spatz, late onset, Basal ganglia.

  16. Metabolic anatomy of paraneoplastic cerebellar degeneration

    International Nuclear Information System (INIS)

    Anderson, N.E.; Posner, J.B.; Sidtis, J.J.; Moeller, J.R.; Strother, S.C.; Dhawan, V.; Rottenberg, D.A.

    1988-01-01

    Eleven patients with acquired cerebellar degeneration (10 of whom had paraneoplastic cerebellar degeneration [PCD]) were evaluated using neuropsychological tests and 18 F-fluorodeoxyglucose/positron emission tomography to (1) quantify motor, cognitive, and metabolic abnormalities; (2) determine if characteristic alterations in the regional cerebral metabolic rate for glucose (rCMRGlc) are associated with PCD; and (3) correlate behavioral and metabolic measures of disease severity. Eighteen volunteer subjects served as normal controls. Although some PCD neuropsychological test scores were abnormal, these results could not, in general, be dissociated from the effects of dysarthria and ataxia. rCMRGlc was reduced in patients with PCD (versus normal control subjects) in all regions except the brainstem. Analysis of patient and control rCMRGlc data using a mathematical model of regional metabolic interactions revealed two metabolic pattern descriptors, SSF1 and SSF2, which distinguished patients with PCD from normal control subjects; SSF2, which described a metabolic coupling between cerebellum, cuneus, and posterior temporal, lateral frontal, and paracentral cortex, correlated with quantitative indices of cerebellar dysfunction. Our inability to document substantial intellectual impairment in 7 of 10 patients with PCD contrasts with the 50% incidence of dementia in PCD reported by previous investigators. Widespread reductions in PCD rCMRGlc may result from the loss of cerebellar efferents to thalamus and forebrain structures, a reverse cerebellar diaschisis

  17. The knowledge and attitudes of occupational therapy, physiotherapy and speech-language therapy students, regarding the speech-language therapist's role in the hospital stroke rehabilitation team.

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    Felsher, L; Ross, E

    1994-01-01

    The purpose of the present study was to survey and compare the knowledge and attitudes of final year occupational therapy, physiotherapy and speech-language therapy students, concerning the role of the speech-language therapist as a member of the stroke rehabilitation team in the hospital setting. In order to achieve this aim, a questionnaire was administered to final year students in these three disciplines, and included questions on most areas of stroke rehabilitation with which the speech-language therapist might be involved, as well as the concepts of rehabilitation and teamwork in relation to stroke rehabilitation. Results suggested a fairly good understanding of the concepts of rehabilitation and teamwork. Students appeared to have a greater understanding of those disorders following a stroke, with which the speech-language therapist is commonly involved, such as Aphasia, Dysarthria, Verbal Apraxia and Dysphagia. However, students appeared to show less understanding of those disorders post-stroke, for which the speech-language therapist's role is less well defined, such as Agraphia, Alexia and Amnesia. In addition, a high percentage of role duplication/overlapping in several aspects of stroke rehabilitation, such as family and social support, was found. Several implications for facilitating communication, collaboration and understanding between paramedical professions, as well as for further research are also provided.

  18. Lipomatosis simétrica benigna de la lengua en la enfermedad de Madelung Benign symmetric lipomatosis of the tongue in Madelung’s disease

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    A. López Ceres

    2006-04-01

    Full Text Available La enfermedad de Madelung, o lipomatosis simétrica benigna es una enfermedad rara caracterizada por acúmulos grasos no encapsulados localizados de forma simétrica alrededor de cuello y hombros. Esta enfermedad, afecta predominantemente a hombres en edades comprendidas entre los 30 y 60 años, con una relación hombre:mujer de 15:1. Existe una gran relación con el abuso del alcohol. Las personas no alcohólicas y las mujeres también pueden verse afectadas, aunque de forma más rara. Presentamos el caso de una mujer diagnosticada de Enfermedad de Madelung refiriendo engrosamiento progresivo de la lengua. Presentaba dificultad para tragar, disartria y disnea con el decúbito.Madelung´s disease, or benign symmetric lipomatosis, is an uncommon disease characterized by non-encapsulated accumulations of fat in a symmetric manner around the neck and shoulders. This uncommon disease predominantly affects men between the ages of 30 and 60 and it has a 15:1 ratio. There is a strong correlation with alcohol abuse. Nonalcoholics and women can also be affected although this is rare. We report the case of a woman diagnosed with Madelung’s disease, who described a gradual swelling of the tongue. She had difficulty swallowing, dysarthria and dyspnea while sleeping.

  19. Can the FAST and ROSIER adult stroke recognition tools be applied to confirmed childhood arterial ischemic stroke?

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    Babl Franz E

    2011-10-01

    Full Text Available Abstract Background Stroke recognition tools have been shown to improve diagnostic accuracy in adults. Development of a similar tool in children is needed to reduce lag time to diagnosis. A critical first step is to determine whether adult stoke scales can be applied in childhood stroke. Our objective was to assess the applicability of adult stroke scales in childhood arterial ischemic stroke (AIS Methods Children aged 1 month to Results 47 children with AIS were identified. 34 had anterior, 12 had posterior and 1 child had anterior and posterior circulation infarcts. Median age was 9 years and 51% were male. Median time from symptom onset to ED presentation was 21 hours but one third of children presented within 6 hours. The most common presenting stroke symptoms were arm (63%, face (62%, leg weakness (57%, speech disturbance (46% and headache (46%. The most common signs were arm (61%, face (70% or leg weakness (57% and dysarthria (34%. 36 (78% of children had at least one positive variable on FAST and 38 (81% had a positive score of ≥1 on the ROSIER scale. Positive scores were less likely in children with posterior circulation stroke. Conclusion The presenting features of pediatric stroke appear similar to adult strokes. Two adult stroke recognition tools have fair to good sensitivity in radiologically confirmed childhood AIS but require further development and modification. Specificity of the tools also needs to be determined in a prospective cohort of children with stroke and non-stroke brain attacks.

  20. Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat

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    Susanne Buechner

    2015-01-01

    Full Text Available Background. Stiff person syndrome (SPS is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed.

  1. Application of the Trail Making Test in the assessment of cognitive flexibility in patients with speech disorders after ischaemic cerebral stroke

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    Anna Rajtar-Zembaty

    2015-04-01

    Full Text Available The main aim of this study was to evaluate the level of cognitive flexibility in patients with speech disorders after ischaemic cerebral stroke. The study was conducted in a group of 43 patients (18 women and 25 men who had experienced cerebral ischaemic stroke. The patients under study were divided into groups based on the type of speech disorders, i.e.: aphasia, lack of speech disorders and dysarthria. A Mini-Mental State Examination (MMSE and a Clock Drawing Test (CDT were applied for the general evaluation of the efficiency of cognitive functions. Cognitive flexibility – a component of executive functions, was evaluated with the use of a Trail Making Test (TMT. The results obtained prove that patients with aphasia show the lowest level of cognitive flexibility. Disorders of executive functions can be related to the dysfunction of the prefrontal cortex which has been damaged as a result of ischaemic cerebral stroke. Presumably, there are common functional neuroanatomical circuits for both language skills and components of executive functions. In the case of damage to the structures that are of key importance for both skills, language and executive dysfunctions can therefore occur in parallel. The presence of executive dysfunctions in patients with aphasia can additionally impede the functioning of the patient, and also negatively influence the process of rehabilitation the aim of which is to improve the efficiency of communication.

  2. The central nervous system manifestation and CT findings of Fabry's disease

    International Nuclear Information System (INIS)

    Toyonaga, Kazutaka; Nishihira, Takeo

    1983-01-01

    A case of Fabry's disease with central nervous system dysfunction is reported. This 27-year-old man had recurrent episodes of pains in the extremities when he was a child. Spontaneous clinical remission occured around puberty. He had been well until age 22 when he experienced transient weakness of the left arm. The following year he developed transient blindness of the right eye. Then, he developed weakness in the extremities, dysphagia, dysarthria, and was brought to the hospital in unconscious state. Several members of his family are affected with the same disease presenting leg pains, kidney disease and angiokeratoma. Physical examination disclosed an optic atrophy, pseudobulbar palsy with spastic weakness in the all extremities and multiple angiokeratoma in the flank, buttocks and thighs. Abnormal laboratory findings included leukocytosis, increased ESR and strongly positive CRP. Biopsy of the skin disclosed dilated capilaries with numerous vacuoles in the cytoplasm of the epithelial cells. Thin-layer chromatography of the urine sediment showed a marked increase in ceramide trihexoside. Leukocyte alphagalactosidase level was abnormally low. CT scan showed diffuse cerebral atrophy and multiple low density areas in the thalamus, ventral pons and centrum semiovale. The CT findings and possible mechanism of the response to predonisolone were also discussed. (author)

  3. A Case of Primary Central Nervous System Lymphoma Located at Brain Stem in a Child.

    Science.gov (United States)

    Kim, Jinho; Kim, Young Zoon

    2016-10-01

    Primary central nervous system lymphoma (PCNSL) is an extranodal Non-Hodgkin's lymphoma that is confined to the brain, eyes, and/or leptomeninges without evidence of a systemic primary tumor. Although the tumor can affect all age groups, it is rare in childhood; thus, its incidence and prognosis in children have not been well defined and the best treatment strategy remains unclear. A nine-year old presented at our department with complaints of diplopia, dizziness, dysarthria, and right side hemiparesis. Magnetic resonance image suggested a diffuse brain stem glioma with infiltration into the right cerebellar peduncle. The patient was surgically treated by craniotomy and frameless stereotactic-guided biopsy, and unexpectedly, the histopathology of the mass was consistent with diffuse large B cell lymphoma, and immunohistochemical staining revealed positivity for CD20 and CD79a. Accordingly, we performed a staging work-up for systemic lymphoma, but no evidence of lymphoma elsewhere in the body was obtained. In addition, she had a negative serologic finding for human immunodeficient virus, which confirmed the histopathological diagnosis of PCNSL. She was treated by radiosurgery at 12 Gy and subsequent adjuvant combination chemotherapy based on high dose methotrexate. Unfortunately, 10 months after the tissue-based diagnosis, she succumbed due to an acute hydrocephalic crisis.

  4. Local brain herniation after partial membranectomy for organized chronic subdural hematoma in an adult patient: case report and review of the literature.

    Science.gov (United States)

    Kusano, Yoshikazu; Horiuchi, Tetsuyoshi; Seguchi, Tatsuya; Kakizawa, Yukinari; Tanaka, Yuichiro; Hongo, Kazuhiro

    2010-01-01

    Local brain herniation after removal of chronic subdural haematoma is extremely rare, especially in adult patients. This study reports a case of local brain herniation after partial membranectomy for organized chronic subdural haematoma. A 77-year-old man presented with dysarthria and dysphasia caused by local brain herniation of the right frontal lobe through a defect of the inner membrane. The herniated brain was detected by magnetic resonance (MR) imaging. The patient underwent a craniotomy to release the herniated and strangulated brain, which were consistent with the MR imaging findings. The patient recovered fully within 1 month after surgery. To date, five cases of brain herniation through the internal subdural membrane have been reported as complications of chronic subdural haematomas. All but one case occurred in the paediatric population. Urgent surgery should be performed, even if an adult patient suffers from local brain herniation, for preservation of brain function. This is the sixth reported case of brain herniation through a defect of the inner membrane and the second reported case in the adult population.

  5. Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

    Science.gov (United States)

    Parkinson, Michael H; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola

    2013-08-01

    One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. Early-onset cases tend to have more rapid progression and a higher frequency of non-neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. © 2013 International Society for Neurochemistry.

  6. Engagement and learning: an exploratory study of situated practice in multi-disciplinary stroke rehabilitation.

    Science.gov (United States)

    Horton, Simon; Howell, Alison; Humby, Kate; Ross, Alexandra

    2011-01-01

    Active participation is considered to be a key factor in stroke rehabilitation. Patient engagement in learning is an important part of this process. This study sets out to explore how active participation and engagement are 'produced' in the course of day-to-day multi-disciplinary stroke rehabilitation. Ethnographic observation, analytic concepts drawn from discourse analysis (DA) and the perspective and methods of conversation analysis (CA) were applied to videotaped data from three sessions of rehabilitation therapy each for two patients with communication impairments (dysarthria, aphasia). Engagement was facilitated (and hindered) through the interactional work of patients and healthcare professionals. An institutional ethos of 'right practice' was evidenced in the working practices of therapists and aligned with or resisted by patients; therapeutic activity type (impairment, activity or functional focus) impacted on the ways in which patient engagement was developed and sustained. This exploration of multi-disciplinary rehabilitation practice adds a new dimension to our understanding of the barriers and facilitators to patient engagement in the learning process and provides scope for further research. Harmonising the rehabilitation process across disciplines through more focused attention to ways in which patient participation is enhanced may help improve the consistency and quality of patient engagement.

  7. Unusual neurological syndrome induced by atmospheric pressure change.

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    Ptak, Judy A; Yazinski, Nancy A; Block, Clay A; Buckey, Jay C

    2013-05-01

    We describe a case of a 46-yr-old female who developed hypertension, tachycardia, dysarthria, and leg weakness provoked by pressure changes associated with flying. Typically during the landing phase of flight, she would feel dizzy and note that she had difficulty with speech and leg weakness. After the flight the leg weakness persisted for several days. The symptoms were mitigated when she took a combined alpha-beta blocker (labetalol) prior to the flight. To determine if these symptoms were related to atmospheric pressure change, she was referred for testing in a hyperbaric chamber. She was exposed to elevated atmospheric pressure (maximum 1.2 ATA) while her heart rate and blood pressure were monitored. Within 1 min she developed tachycardia and hypertension. She also quickly developed slurred speech, left arm and leg weakness, and sensory changes in her left leg. She was returned to sea level pressure and her symptoms gradually improved. A full neurological workup has revealed no explanation for these findings. She has no air collections, cysts, or other anatomic findings that could be sensitive to atmospheric pressure change. The pattern is most consistent with a vascular event stimulated by altitude exposure. This case suggests that atmospheric pressure change can produce neurological symptoms, although the mechanism is unknown.

  8. The perceptions of students in the allied health professions towards stroke rehabilitation teams and the SLP's role.

    Science.gov (United States)

    Insalaco, Deborah; Ozkurt, Elcin; Santiago, Digna

    2007-01-01

    The purpose of this study was to determine the perceptions and knowledge of final-year speech-language pathology (SLP), physical and occupational therapy (PT, OT) students toward stroke rehabilitation teams and the SLPs' roles on them. The investigators adapted a survey developed by (Felsher & Ross, 1994) and administered it to 35 PT, 35 OT, and 35 SLP final year students (n=105). We found that the students preferred the transdisciplinary team approach and agreed that the advantages of teamwork were the exchange of ideas, opportunities for participatory learning, and holistic treatment. Communication problems, time-consuming meetings, and role confusion were chosen as disadvantages. The students had clear perceptions of the SLP's role in aphasia, apraxia of speech, dysarthria, dysphagia, and auditory agnosia, but fewer recognized the SLP's role in alexia and memory. Some thought SLPs had a role in dressing apraxia and proprioceptive disorders. Suggestions to maximize the advantages and minimize possible disadvantages of teamwork are provided. Learners will: (1) identify the perceived advantages and disadvantages of stroke rehabilitation teamwork; (2) discover some allied health students' perceptions of the SLP's roles in stroke rehabilitation; (3) infer methods to create positive perceptions of stroke rehabilitation team members.

  9. The development of glossopharyngeal breathing and palatal myoclonus in a 29 year old after scuba diving

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    Thomas AR

    2011-02-01

    Full Text Available Palatal myoclonus is a rare movement disorder characterized by brief, rhythmic involuntary movements of the soft palate. Palatal myoclonus is further subdivided into “essential palatal tremor” (EPT and “symptomatic palatal tremor” (SPT. EPT is characterized by involvement of the tensor veli palatini, myoclonus that might persist during sleep, as well as ear clicks, usually the patient’s presenting complaint. The MRI and neurological exam are normal in EPT. SPT is characterized by involvement of the levator veli palatini and myoclonus which consistently perseveres during sleep. The MRI shows olivary hypertrophy and clinical features may include ataxia, dysarthria and nystagmus, depending on the size of the lesion1. Glossopharyngeal breathing is a technique used by deep-sea divers to increase lung vital capacity, which is also useful in patients with ventilator dependence from poliomyelitis and Duchenne muscular dystrophy. To date there have been no reported cases of palatal myoclonus and glossopharyngeal breathing occurring simultaneously. We present the case of a 29 year-old female with palatal myoclonus and glossopharyngeal breathing after scuba-diving.

  10. Standardization, Validity and Reliability Study of Gülhane Aphasia Test-2 (GAT-2

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    İlknur Maviş

    2007-04-01

    Full Text Available OBJECTIVE: Gülhane Aphasia Test-2 (GAT-2 has been developed to show the presence of a language disorder ‘aphasia’ and to give the clinician implications for the accompanying speech disorders such as apraxia and dysarthria. OBJECTIVE: The aim of the study was to report standardization, validity and reliability study of GAT-2. METHODS: : 10 healthy individuals were tested initially for the pilot study. 134 healthy individual was included to the standardization study and 30 individuals with aphasia and 11 individuals with right brain injury was included to the validation study. The inter group GAT-2 score differentiations and the effects of age, years of education, sex variances were observed. GAT-2 cut-off scores were calculated by the scores of healthy individuals. GAT-2 test-retest reliability and inter-observer reliability was calculated. RESULTS: Healthy individuals’ GAT-2 scores were significantly different from the GAT-2 scores of aphasic patients, but not from right brain injured patients’. Healthy individuals’ GAT-2 scores were not affected from the sex, age variances but from years of education, so cut-off scores were calculated by this variance. GAT-2 scores of aphasic patients were not affected from age, sex and years of education. Test-retest and inter-observer reliability and internal consistency results showed that GAT-2 is a highly reliable aphasia screening test. CONCLUSION: GAT-2 was found to be a standardized, highly reliable and a valid aphasia test for Turkish stroke patients with aphasia

  11. Deep Brain Stimulation of Caudal Zona Incerta and Subthalamic Nucleus in Patients with Parkinson's Disease: Effects on Diadochokinetic Rate

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    Fredrik Karlsson

    2011-01-01

    Full Text Available The hypokinetic dysarthria observed in Parkinson's disease (PD affects the range, speed, and accuracy of articulatory gestures in patients, reducing the perceived quality of speech acoustic output in continuous speech. Deep brain stimulation (DBS of the subthalamic nucleus (STN-DBS and of the caudal zona incerta (cZi-DBS are current surgical treatment options for PD. This study aimed at investigating the outcome of STN-DBS (7 patients and cZi-DBS (7 patients in two articulatory diadochokinesis tasks (AMR and SMR using measurements of articulation rate and quality of the plosive consonants (using the percent measurable VOT metric. The results indicate that patients receiving STN-DBS increased in articulation rate in the Stim-ON condition in the AMR task only, with no effect on production quality. Patients receiving cZi-DBS decreased in articulation rate in the Stim-ON condition and further showed a reduction in production quality. The data therefore suggest that cZi-DBS is more detrimental for extended articulatory movements than STN-DBS.

  12. A case of tacrolimus-induced encephalopathy after kidney transplantation

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    Myoung Uk Kim

    2011-01-01

    Full Text Available We present a case of tacrolimus-induced encephalopathy after successful kidney transplantation. An 11-year-old girl presented with sudden onset of neurologic symptoms, hypertension, and psychiatric symptoms, with normal kidney function, after kidney transplantation. The symptoms improved after cessation of tacrolimus. Magnetic resonance imaging (MRI showed acute infarction of the middle cerebral artery (MCA territory in the right frontal lobe. Three days later, she had normal mental function and maintained normal blood pressure with left hemiparesis. Follow-up MRI was performed on D19, showing new infarct lesions at both cerebral hemispheres. Ten days later, MRI showed further improvement, but brain single photon emission computed tomography (SPECT showed mild reduction of uptake in both the anterior cingulate gyrus and the left thalamus. One month after onset of symptoms, angiography showed complete resolution of stenosis. However, presenting as a mild fine motor disability of both hands and mild dysarthria, what had been atrophy at both centrum semiovale at 4 months now showed progression to encephalomalacia. There are two points of interest in this case. First, encephalopathy occurred after administration of tacrolimus and improved after discontinuation of the drug. Second, the development of right-side hemiplegia could not be explained by conventional MRI; but through diffusion tensor imaging (DTI and diffusion tensor tractography (DTT of white matter tract, visualization was possible.

  13. Deep Brain Stimulation for Essential Tremor: Aligning Thalamic and Posterior Subthalamic Targets in 1 Surgical Trajectory.

    Science.gov (United States)

    Bot, Maarten; van Rootselaar, Fleur; Contarino, Maria Fiorella; Odekerken, Vincent; Dijk, Joke; de Bie, Rob; Schuurman, Richard; van den Munckhof, Pepijn

    2017-12-21

    Ventral intermediate nucleus (VIM) deep brain stimulation (DBS) and posterior subthalamic area (PSA) DBS suppress tremor in essential tremor (ET) patients, but it is not clear which target is optimal. Aligning both targets in 1 surgical trajectory would facilitate exploring stimulation of either target in a single patient. To evaluate aligning VIM and PSA in 1 surgical trajectory for DBS in ET. Technical aspects of trajectories, intraoperative stimulation findings, final electrode placement, target used for chronic stimulation, and adverse and beneficial effects were evaluated. In 17 patients representing 33 trajectories, we successfully aligned VIM and PSA targets in 26 trajectories. Trajectory distance between targets averaged 7.2 (range 6-10) mm. In all but 4 aligned trajectories, optimal intraoperative tremor suppression was obtained in the PSA. During follow-up, active electrode contacts were located in PSA in the majority of cases. Overall, successful tremor control was achieved in 69% of patients. Stimulation-induced dysarthria or gait ataxia occurred in, respectively, 56% and 44% of patients. Neither difference in tremor suppression or side effects was noted between aligned and nonaligned leads nor between the different locations of chronic stimulation. Alignment of VIM and PSA for DBS in ET is feasible and enables intraoperative exploration of both targets in 1 trajectory. This facilitates positioning of electrode contacts in both areas, where multiple effective points of stimulation can be found. In the majority of aligned leads, optimal intraoperative and chronic stimulation were located in the PSA. Copyright © 2017 by the Congress of Neurological Surgeons

  14. Correlation of anatomy and function in medulla oblongata infarction.

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    Eggers, C; Fink, G R; Möller-Hartmann, W; Nowak, D A

    2009-02-01

    A presentation of all aspects of the dorsolateral medulla oblongata syndrome is clinically very rare to find. In most cases patients present with fragmentary symptoms, e.g. ipsilateral axial lateropulsion, nystagmus, dysarthria, dysphagia or hemiataxia. However, the clinical presentation and lesion anatomy at the level of the medulla oblongata is still unsatisfactory. The aim of this study was to correlate the functional deficit with structural MRI-data. We included thirteen patients (eight male, five female, mean age 65.5) with medulla oblongata infarction with clinically predominant ipsilateral axial lateropulsion and correlated clinical with structural deficits. Magnetic resonance imaging lesion mapping demonstrated ipsilateral axial lateropulsion to result from lesions of the spinocerebellar tract, the inferior cerebellar peduncle or the inferior vestibular nucleus. Nystagmus was associated with lesions of the inferior vestibular nucleus, dissociated sensory loss with the spinothalamic tract and hemiataxia with the spinocerebellar tract. Correlating dysfunction and lesion anatomy is a promising approach to enhance our knowledge on medulla oblongata topography.

  15. Comparative clinical characteristics of neuromyelitis optica spectrum disorders with and without medulla oblongata lesions.

    Science.gov (United States)

    Wang, Yanqiang; Zhang, Lei; Zhang, Bingjun; Dai, Yongqiang; Kang, Zhuang; Lu, Ciyong; Qiu, Wei; Hu, Xueqiang; Lu, Zhengqi

    2014-05-01

    Brainstem involvement, especially the medulla oblongata (MO), has been reported in neuromyelitis optica spectrum disorders (NMOSDs). The purpose of this study was to investigate retrospectively and compare clinical, laboratory, and imaging features of NMOSDs with and without MO lesions. A total of 170 patients with NMOSDs were enrolled, including 44 patients with MO lesions and 126 patients without MO lesions. Clinical features, laboratory tests, and magnetic resonance imaging findings among these patients were assessed. MO lesions were found in 25.9 % of the NMOSDs patients. The mean duration was 13 months. Patients with MO lesions had a higher Annualized relapse rate and Expanded Disability Status Score Scale. Headache, dizziness, nystagmus, dysarthria, intractable hiccup and nausea, choking cough or dysphagia, movement disorders, and neuropathic pain were more common in MO lesion patients. Patients with MO lesions were more frequently complicated with thyroid diseases. Multiple brain involvement, More importantly, Longitudinally extensive transverse myelitis were more frequently found in patients with MO lesions. MO lesions might be a symbol of more severe neurologic deficits and worse prognosis of NMOSDs.

  16. Choral singing therapy following stroke or Parkinson's disease: an exploration of participants' experiences.

    Science.gov (United States)

    Fogg-Rogers, Laura; Buetow, Stephen; Talmage, Alison; McCann, Clare M; Leão, Sylvia H S; Tippett, Lynette; Leung, Joan; McPherson, Kathryn M; Purdy, Suzanne C

    2016-01-01

    People with stroke or Parkinson's disease (PD) live with reduced mood, social participation and quality of life (QOL). Communication difficulties affect 90% of people with PD (dysarthria) and over 33% of people with stroke (aphasia). These consequences are disabling in many ways. However, as singing is typically still possible, its therapeutic use is of increasing interest. This article explores the experiences of and factors influencing participation in choral singing therapy (CST) by people with stroke or PD and their significant others. Participants (eight people with stroke, six with PD) were recruited from a community music therapy choir running CST. Significant others (seven for stroke, two for PD) were also recruited. Supported communication methods were used as needed to undertake semi-structured interviews (total N = 23). Thematic analysis indicated participants had many unmet needs associated with their condition, which motivated them to explore self-management options. CST participation was described as an enjoyable social activity, and participation was perceived as improving mood, language, breathing and voice. Choral singing was perceived by people with stroke and PD to help them self-manage some of the consequences of their condition, including social isolation, low mood and communication difficulties. Choral singing therapy (CST) is sought out by people with stroke and PD to help self-manage symptoms of their condition. Participation is perceived as an enjoyable activity which improves mood, voice and language symptoms. CST may enable access to specialist music therapy and speech language therapy protocols within community frameworks.

  17. Speech Clarity Index (Ψ): A Distance-Based Speech Quality Indicator and Recognition Rate Prediction for Dysarthric Speakers with Cerebral Palsy

    Science.gov (United States)

    Kayasith, Prakasith; Theeramunkong, Thanaruk

    It is a tedious and subjective task to measure severity of a dysarthria by manually evaluating his/her speech using available standard assessment methods based on human perception. This paper presents an automated approach to assess speech quality of a dysarthric speaker with cerebral palsy. With the consideration of two complementary factors, speech consistency and speech distinction, a speech quality indicator called speech clarity index (Ψ) is proposed as a measure of the speaker's ability to produce consistent speech signal for a certain word and distinguished speech signal for different words. As an application, it can be used to assess speech quality and forecast speech recognition rate of speech made by an individual dysarthric speaker before actual exhaustive implementation of an automatic speech recognition system for the speaker. The effectiveness of Ψ as a speech recognition rate predictor is evaluated by rank-order inconsistency, correlation coefficient, and root-mean-square of difference. The evaluations had been done by comparing its predicted recognition rates with ones predicted by the standard methods called the articulatory and intelligibility tests based on the two recognition systems (HMM and ANN). The results show that Ψ is a promising indicator for predicting recognition rate of dysarthric speech. All experiments had been done on speech corpus composed of speech data from eight normal speakers and eight dysarthric speakers.

  18. Effects of Repetitive Transcranial Magnetic Stimulation in the Rehabilitation of Communication and Deglutition Disorders: Systematic Review of Randomized Controlled Trials.

    Science.gov (United States)

    Gadenz, Camila Dalbosco; Moreira, Tais de Campos; Capobianco, Dirce Maria; Cassol, Mauriceia

    2015-01-01

    To systematically review randomized controlled trials that evaluate the effects of repetitive transcranial magnetic stimulation (rTMS) on rehabilitation aspects related to communication and swallowing functions. A search was conducted on PubMed, Clinical Trials, Cochrane Library, and ASHA electronic databases. Studies were judged according to the eligibility criteria and analyzed by 2 independent and blinded researchers. We analyzed 9 studies: 4 about aphasia, 3 about dysphagia, 1 about dysarthria in Parkinson's disease and 1 about linguistic deficits in Alzheimer's disease. All aphasia studies used low-frequency rTMS to stimulate Broca's homologous area. High-frequency rTMS was applied over the pharyngoesophageal cortex from the left and/or right hemisphere in the dysphagia studies and over the left dorsolateral prefrontal cortex in the Parkinson's and Alzheimer's studies. Two aphasia and all dysphagia studies showed a significant improvement of the disorder, compared to the sham group. The other 2 studies related to aphasia found a benefit restricted to subgroups with a severe case or injury on the anterior portion of the language cortical area, respectively, whereas the Alzheimer's study demonstrated positive effects specific to auditory comprehension. There were no changes for vocal function in the Parkinson's study. The benefits of the technique and its applicability in neurogenic disorders related to communication and deglutition are still uncertain. Therefore, other randomized controlled trials are needed to clarify the optimal stimulation protocol for each disorder studied and its real effects. © 2015 S. Karger AG, Basel.

  19. Multi-disciplinary clinical protocol for the diagnosis of bulbar amyotrophic lateral sclerosis.

    Science.gov (United States)

    Chiaramonte, Rita; Di Luciano, Carmela; Chiaramonte, Ignazio; Serra, Agostino; Bonfiglio, Marco

    2018-04-23

    The objective of this study was to examine the role of different specialists in the diagnosis of amyotrophic lateral sclerosis (ALS), to understand changes in verbal expression and phonation, respiratory dynamics and swallowing that occurred rapidly over a short period of time. 22 patients with bulbar ALS were submitted for voice assessment, ENT evaluation, Multi-Dimensional Voice Program (MDVP), spectrogram, electroglottography, fiberoptic endoscopic evaluation of swallowing. In the early stage of the disease, the oral tract and velopharyngeal port were involved. Three months after the initial symptoms, most of the patients presented hoarseness, breathy voice, dysarthria, pitch modulation problems and difficulties in pronunciation of explosive, velar and lingual consonants. Values of MDVP were altered. Spectrogram showed an additional formant, due to nasal resonance. Electroglottography showed periodic oscillation of the vocal folds only during short vocal cycle. Swallowing was characterized by weakness and incoordination of oro-pharyngeal muscles with penetration or aspiration. A specific multidisciplinary clinical protocol was designed to report vocal parameters and swallowing disorders that changed more quickly in bulbar ALS patients. Furthermore, the patients were stratified according to involvement of pharyngeal structures, and severity index. Copyright © 2018 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Publicado por Elsevier España, S.L.U. All rights reserved.

  20. Reduction of Parkinson's-related dysphonia by thyroplasty.

    Science.gov (United States)

    Roubeau, B; Bruel, M; de Crouy Chanel, O; Périé, S

    2016-12-01

    Parkinson's-related dysphonia has a negative impact on the quality of speech by increasing the effects of the associated dysarthria. When this dysphonia is related to vocal fold adduction defect, constituting a real glottic insufficiency, vocal fold medialization can be proposed after failure of intensive voice and speech therapy. Acoustic and aerodynamic voice and speech analysis techniques, perceptual evaluation and estimation of vocal handicap, associated with fiberoptic laryngoscopy were performed to determine the indication for vocal fold medialization in these patients with glottic insufficiency. Vocal fold medialization by Montgomery thyroplasty implant was performed under local anesthesia and neuroanalgesia in two patients with Parkinson's disease presenting a dysphonia refractory to speech therapy. Postoperative evaluation showed improvement of voice quality with an increased number of harmonics and improvement of aerodynamic parameters. Vocal fold medialization by Montgomery thyroplasty implant effectively improved voice quality in these two patients allowing a more effective vocal fold adduction. The reducing of the hypophonia has a positive effect on the quality of oral communication. The medialization thyroplasty technique, under local anesthesia, allows intraoperative control of the voice as well as removal of the implant when necessary. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  1. The role of brain magnetic resonance imaging in the diagnosis of pantothenate kinase deficiency (previously Hallervorden-Spatz disease): case report; Znaczenie badania tomografii rezonansu magnetycznego mozgowia w diagnostyce deficytu kinazy pantotenowej (dawniej choroby Hallervordena-Spatza) - opis przypadku

    Energy Technology Data Exchange (ETDEWEB)

    Gizewska, M; Bieleninik, A; Adamczyk, T; Walczak, M [II Klinika Chorob Dzieci Pomorskiej Akademii Medycznej, Szczecin (Poland); Cyrylowski, L [Zaklad Diagnostyki Obrazowej i Radiologii Interwencyjnej Pomorskiej Akademii Medycznej, Szczecin (Poland); Abramczyk, G [Oddzial Noworodkow, Patologii i Intensywnej Terapii, Samodzielnego Publicznego Specjalistycznego ZOZ ' ' Zdroje ' ' , Szczecin (Poland); Nowacki, P [Klinika Neurologii Pomorskiej Akademii Medycznej, Szczecin (Poland)

    2005-07-01

    Panthotenate kinase deficiency is a rare metabolic disorder from the group of neuroaxonal dystrophy. It is characterized by symptoms of extrapiramidal system impairment, general dystonia, progressive gait disturbances, limbs rigidity, dyskinesias, choreoatetotic movements, dysarthria and progressive dementia. On the brain MRI, T2 - weighted images demonstrate typical, symmetrical '' eye of the tiger '' sign with hyperintensive signals from the central parts of the pallidum, surrounded by low signals in the pallidum and accompanied by hypointensity in substantia nigra resulting from iron deposition. We present a case of 13.5 year old boy with gait disturbances, increase muscles tone, dysartria, aggressive behavior and learning difficulties progressing from the early childhood. In the differential diagnosis a number of inborn errors of metabolism was excluded. Finding on the brain MRI in T2- weighted images typical picture of '' eye of the tiger '' led to a diagnosis of panthotenate kinase deficiency. In subsequent years of observation, despite attempts of baclofen and calcium panthotenate treatment, progression of pyramidal-extrapyramidal syndrome is observed. In children with symptoms of progressive extrapyramidal tract impairment, a sign of '' eye of the tiger '' with hyperintensive signals from the central parts of the pallidum, surrounded by low signals in the remaining part of the pallidum and accompanied by similar lesions in substantia nigra is typical for panthotenate kinase deficiency - a rare neurodegenerative disorder of central nervous system. (author)

  2. A Case of Apoplexy of Rathke’s Cleft Cyst Followed by Cerebral Infarction

    Directory of Open Access Journals (Sweden)

    Yu-ichiro Ohnishi

    2015-01-01

    Full Text Available Rathke’s cleft cyst (RCC apoplexy is a rare clinical entity. We report a case of apoplexy of an RCC followed by cerebral infarction. A 67-year-old woman was found lying on the street unconscious. She had fallen from her motorbike. On referral to our hospital she gradually regained consciousness and presented with no neurological deficits. CT showed a round and slightly hyperdense area in the suprasellar region. However, the attending physician did not find this abnormal finding on CT and the patient was discharged the same day. Thirteen days after the first emergency visit she developed left hemiparesis and dysarthria. CT showed a round hypodense area in the suprasellar region. The change of the density in the suprasellar region on CT suggested the pituitary apoplexy. CT also showed a low density area in the territory of the right middle cerebral artery, which indicated the cerebral infarction. MR angiography revealed poor visibility and stenotic changes of right middle cerebral arteries. Transsphenoidal surgery was performed. Histopathological findings confirmed a hemorrhagic RCC. Postoperative MR angiography showed that the visibility and stenosis of right middle cerebral arteries were recovered. This is the rare case of apoplexy of an RCC followed by cerebral infarction.

  3. Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia

    Directory of Open Access Journals (Sweden)

    Naseroleslami M

    2013-01-01

    Full Text Available Background and Objectives: Friedreich’s ataxia (FRDA is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of position and vibration sense. Approximately two-thirds of these patients suffer from cardiomyopathy and more than 30% have diabetes mellitus. Individuals with FRDA have identifiable mutations in the FXN gene. The most common type of mutation which is observed on both alleles in more than 98% of patients is an expansion of a GAA triplet-repeat in intron of FXN gene. Approximately 2% of individuals with FRDA are compound heterozygotes, who have a GAA expansion in the disease-causing range in one FXN allele and an inactivating FXN mutation in another allele. Aim of the present study was to investigate exon 1 in FRDA gene in patients with clinical symptoms of Friedreich’s Ataxia that have not GAA triplet-repeat expansion in intron 1 of FXN gene.Methods: In this study, exon 1 in 5 patients suspected of FRDA analyzed using PCR and sequencing. Results: An A to G transition at nucleotide number 815284, in exon 1 was observed in all patients. Conclusion: The results of this study showed that disease-causing homozygous mutations could be because of consanguinity marriage in Iran. Therefore, sequencing of all exons of the gene is necessary.

  4. A case of lung adenocarcinoma with multiple intracranial hemorrhages of brain metastases after whole-brain radiation therapy

    International Nuclear Information System (INIS)

    Nakamichi, Shinji; Hirano, Satoshi; Asao, Tetsuhiko; Takeda, Yuichiro; Sugiyama, Haruhito; Kobayashi, Nobuyuki

    2011-01-01

    Whole-brain radiation therapy (WBRT) is widely applied in cases of brain metastases of non-small cell lung cancer (NSCLC). However, there are few case reports on hemorrhages of brain metastases occurring after WBRT. A 63-year-old woman was given a diagnosis of stage IV (T4N0M1b) lung adenocarcinoma about 4 years previously, and received chemotherapy regimens and gamma knife radiosurgery. However, her brain metastases exacerbated and she received WBRT in November 2010 and docetaxel monotherapy in December 2010. Two weeks after completing WBRT, she experienced dysarthria and an MRI showed multiple hemorrhages within brain metastases. Over a period of careful observation, these hemorrhages repeatedly alternated between improvement and exacerbation. Radiotherapy for metastatic brain tumors is considered to suppress hemorrhagic events of brain metastases. However, multiple intracranial hemorrhages of brain metastases occurred after WBRT in the present case. The accumulation of further studies of similar cases is necessary to identify the exact mechanism of these hemorrhages. (author)

  5. Neurofibromatosis type 1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke.

    Science.gov (United States)

    Giannantoni, Nadia Mariagrazia; Broccolini, Aldobrando; Frisullo, Giovanni; Pilato, Fabio; Profice, Paolo; Morosetti, Roberta; Di Lella, Giuseppe; Zampino, Giuseppe; Della Marca, Giacomo

    2015-01-01

    Neurofibromatosis type 1 (NF1) is a heterogeneous, common, neurocutaneous disorder presenting different complications during a life span, including cerebrovascular dysplasia. To our knowledge this is the first reported case of NF1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke. We describe a 57-year-old man with NF1 who presented an acute onset right-sided facial palsy and hemiplegia, dysarthria, and gait imbalance. Magnetic resonance imaging showed an acute left paramedian pontine infarct and a hypoplastic right vertebral artery. Brain Computed Tomography Angiography revealed the occurrence of vertebrobasilar dolichoectasia. Co-occurrence of VBD and NF1 might not be merely casual and it may significantly heighten the mortality rate in this multisystem disorder. We suggest a possible role of VBD in the genesis of our patient's clinical-radiological features and prompt the early detection of asymptomatic arteriopathy in individuals with NF1 in order to ameliorate patients' quality of life and life expectancy. Copyright © 2014 by the American Society of Neuroimaging.

  6. Synthetic cannabis and acute ischemic stroke.

    Science.gov (United States)

    Bernson-Leung, Miya E; Leung, Lester Y; Kumar, Sandeep

    2014-01-01

    An association between marijuana use and stroke has been previously reported. However, the health risks of newer synthetic cannabinoid compounds are less well known. We describe 2 cases that introduce a previously unreported association between synthetic cannabis use and ischemic stroke in young adults. A 22-year-old woman presented with dysarthria, left hemiplegia, and left hemianesthesia within hours of first use of synthetic cannabis. She was healthy and without identified stroke risk factors other than oral contraceptive use and a patent foramen ovale without venous thromboses. A 26-year-old woman presented with nonfluent aphasia, left facial droop, and left hemianesthesia approximately 12 hours after first use of synthetic cannabis. Her other stroke risk factors included migraine with aura, oral contraceptive use, smoking, and a family history of superficial thrombophlebitis. Both women were found to have acute, large-territory infarctions of the right middle cerebral artery. Our 2 cases had risk factors for ischemic stroke but were otherwise young and healthy and the onset of their deficits occurred within hours after first-time exposure to synthetic cannabis. Synthetic cannabis use is an important consideration in the investigation of stroke in young adults. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  7. Presentation of a patient carrying a progressive supra-nuclear paralysis

    International Nuclear Information System (INIS)

    Arredondo Bruce, Alfredo; Huerta Ramírez, Janet; Domínguez Calderón, Tomás; Pérez Zayas, Jesús

    2016-01-01

    The progressive supra-nuclear paralysis (PSP) or Steele-Richardson-Olszewsky’s syndrome is a strange, degenerative illness produced by the deterioration and gradual death of brain selected areas. We present the case of a female patient, aged 80 years, who refers postural instability, frequent falls and cognitive dysfunctions. She also presents stiffness in retrocollis in the back of the neck, fall of eyelids, left hand shaking, dysarthric and incoherent language, and shaking of both hands in coins counting. The cardiovascular examination showed 2nd increased beat, systolic murmur III/IV in mitral focus, AT 160/90 mm of Hg, edemas in both inferior members, hearth frequency of 110 beats/min., and jugular ingurgitation. The rest of the physical examination was normal. The etiologic diagnosis was progressive supranuclear paralysis and dilated cardiomyopathy. The tau protein is important in the maintenance of the neuronal morphology through microtubules formation, the different proportions and locations, causing the Richardson’s syndrome. The most common symptoms of this entity are postural instability and frequent falls, dysarthria, hypokinesia and visual alterations. Magnetic resonance and functional neuroimaging help the diagnosis. (author)

  8. An Unusual Cause of Dementia: Essential Diagnostic Elements of Corticobasal Degeneration—A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    F. Mastrolilli

    2011-01-01

    Full Text Available Corticobasal degeneration (CBD is an uncommon, sporadic, neurodegenerative disorder of mid- to late-adult life. We describe a further example of the pathologic heterogeneity of this condition. A 71-year-old woman initially presented dysarthria, clumsiness, progressive asymmetric bradykinesia, and rigidity in left arm. Rigidity gradually involved ipsilateral leg; postural instability with falls, blepharospasm, and dysphagia subsequently developed. She has been previously diagnosed as unresponsive Parkinson's Disease. At our clinical examination, she presented left upper-arm-fixed-dystonia, spasticity in left lower limb and pyramidal signs (Babinski and Hoffmann. Brain MRI showed asymmetric cortical atrophy in the right frontotemporal cortex. Neuropsychological examination showed an impairment in visuospatial functioning, frontal-executive dysfunction, and hemineglect. This case demonstrates that association of asymmetrical focal cortical and subcortical features remains the clinical hallmark of this condition. There are no absolute markers for the clinical diagnosis that is complicated by the variability of presentation involving also cognitive symptoms that are reviewed in the paper. Despite the difficulty of diagnosing CBD, somatosensory evoked potentials, motor evoked potentials, long latency reflexes, and correlations between results on electroencephalography (EEG and electromyography (EMG provide further support for a CBD diagnosis. These techniques are also used to identify neurophysiological correlates of the neurological signs of the disease.

  9. Brain perfusion SPECT and FDG PET findings in a patient with ballism associated with hyperthyroidism

    Energy Technology Data Exchange (ETDEWEB)

    Bae, Sang Kyun; Kim, Sang Jin [Pusan Paik Hospital, Pusan (Korea, Republic of)

    2007-07-01

    Ballism is a very rare presentation in association with hyperthyroidism. We describe a 22-year-old lady with episodes of recurrent ballism and hyperthyroidism. A 22-year-old lady was admitted to Neurology department because of sudden development of vigorous involuntary movement and dysarthria. She was diagnosed as hyperthyroidism at the age 12 and treated irregularly. She arrived at the emergency room because of sudden onset of involuntary movement. Computed tomography (CT) scan and Magnetic Resonance Imaging (MRI) of brain was normal. Serum levels of thyroid hormone were increased (Free T4 3.15 ng/dl; normal range 0.93-1.71 ng/dl), whereas thyroid-stimulating hormone (TSH) was undetectable. The thyroid gland was diffusely enlarged and exophthalmos was found. She had been given antithyroid medication from local clinic but medicated irregularly. Technetium thyroid scan reveals diffusely enlarged thyroid with increased radioactivity. Radioiodine uptake in 24 hours was 71 %. Brain perfusion SPECT using Tc-99m ECD reveals asymmetrical perfusion pattern in basal ganglia. Brain PET using F-18 FDG reveals increased metabolism at both caudate nucleus and putamen. She was treated with radioiodine and involuntary movement was improved. There is only few report on ballism associated with hyperthyroidism and no report on functional brain imaging. Brain perfusion SPECT and FDG PET may give useful information about functional status of brain in patients with ballism associated with hyperthyroidism in case of normal anatomical finding on CT/MRI.

  10. Efficacy of Āyurvedic treatment using Pañcakarma combined with balance exercises for disability and balance in progressive supranuclear palsy

    Science.gov (United States)

    Jindal, Nitin; Shamkuwar, Manoj K.; Kaur, Jaskirat; Berry, Sadhan

    2012-01-01

    A 55-year-old female presented at Department of Pañcakarma with diagnosis of progressive supranuclear palsy (PSP). For assessing disability, progressive supranuclear palsy rating scale (PSPRS) was used and balance was assessed by using Tetrax Interactive Balance System (IBS) posturography. Āyurvedic treatment was given along with Pañcakarma and balance exercises for 3 months. As part of Āyurvedic treatment, first Virecana karma was done with classical method and then Mātrā basti, Śirobasti, and other palliative treatment was given for 3 months. Amanatidine was not continued during Virecana karma but started thereafter. On comparison with pre-intervention scores, there was a significant improvement in the patient post-treatment. The features which mainly showed improvement were: Eye movements, spontaneous episodes of laughing, dysphagia, dysarthria, double vision, and neck rigidity. Balance showed significant improvement and there was a remarkable decrease in the postural sway. This case study may present new possibilities for treatment of neurodegenerative diseases by Āyurveda. PMID:23929996

  11. Empirical studies on usability of mHealth apps: a systematic literature review.

    Science.gov (United States)

    Zapata, Belén Cruz; Fernández-Alemán, José Luis; Idri, Ali; Toval, Ambrosio

    2015-02-01

    The release of smartphones and tablets, which offer more advanced communication and computing capabilities, has led to the strong emergence of mHealth on the market. mHealth systems are being used to improve patients' lives and their health, in addition to facilitating communication between doctors and patients. Researchers are now proposing mHealth applications for many health conditions such as dementia, autism, dysarthria, Parkinson's disease, and so on. Usability becomes a key factor in the adoption of these applications, which are often used by people who have problems when using mobile devices and who have a limited experience of technology. The aim of this paper is to investigate the empirical usability evaluation processes described in a total of 22 selected studies related to mHealth applications by means of a Systematic Literature Review. Our results show that the empirical evaluation methods employed as regards usability could be improved by the adoption of automated mechanisms. The evaluation processes should also be revised to combine more than one method. This paper will help researchers and developers to create more usable applications. Our study demonstrates the importance of adapting health applications to users' need.

  12. Telerehabilitation, virtual therapists, and acquired neurologic speech and language disorders.

    Science.gov (United States)

    Cherney, Leora R; van Vuuren, Sarel

    2012-08-01

    Telerehabilitation (telerehab) offers cost-effective services that potentially can improve access to care for those with acquired neurologic communication disorders. However, regulatory issues including licensure, reimbursement, and threats to privacy and confidentiality hinder the routine implementation of telerehab services into the clinical setting. Despite these barriers, rapid technological advances and a growing body of research regarding the use of telerehab applications support its use. This article reviews the evidence related to acquired neurologic speech and language disorders in adults, focusing on studies that have been published since 2000. Research studies have used telerehab systems to assess and treat disorders including dysarthria, apraxia of speech, aphasia, and mild Alzheimer disease. They show that telerehab is a valid and reliable vehicle for delivering speech and language services. The studies represent a progression of technological advances in computing, Internet, and mobile technologies. They range on a continuum from working synchronously (in real-time) with a speech-language pathologist to working asynchronously (offline) with a stand-in virtual therapist. One such system that uses a virtual therapist for the treatment of aphasia, the Web-ORLA™ (Rehabilitation Institute of Chicago, Chicago, IL) system, is described in detail. Future directions for the advancement of telerehab for clinical practice are discussed. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  13. A Family Outbreak of Foodborne Botulism Following Consumption of Home-Canned Doogh in Hamadan, West of Iran

    Directory of Open Access Journals (Sweden)

    Hashemi

    2015-02-01

    Full Text Available Background Food-borne botulism is one of the potentially fatal forms of food poisoning, usually caused by ingestion of home-canned vegetables, fruits and fish products. Objectives The aim of this study was to report an outbreak of botulism due to homemade doogh in Hamadan, Iran. Patients and Methods During an outbreak, 10 members of a family referred to the hospital because of food poisoning. All patients had a history of consumption of doogh, a traditional drink. After careful physical examination, all of them were hospitalized. Botulism was suspected in all patients except for the first patient. Results The first patient was a 76-year-old man who died after 12 hours of admission due to respiratory distress. Nine subsequent patients were diagnosed as botulism with the following symptoms: diplopia (90%, dizziness (70%, nausea and vomiting (80%, ptosis (60%, symmetric weakness of extremities (60%, dysarthria (30%, chest discomfort (30%, mydriasis (20%, dysphasia (20% and dry mouth (20%. All of the nine patients received botulinum antitoxin and improved during 5-15 days of hospitalization. Conclusions Immediate diagnosis based on careful history and physical examination are essential for management of botulism. People should be notified about proper food handling and preparation of traditional homemade foods.

  14. [Neuropsychological profiles associated with the children's oral language disorders].

    Science.gov (United States)

    Conde-Guzón, P A; Conde-Guzón, M J; Bartolomé-Albistegui, M T; Quirós-Expósito, P

    Oral language disorders constitute a group of syndromes with a high prevalence among the childhood population. They form a heterogeneous group that ranges from simple problems in articulating a phoneme (dyslalias) to severe disorders affecting communication, such as children's dysarthrias and aphasias. In this paper our objective is to review the neuropsychological profiles of children who manifest different oral language disorders. Due to the wide range of clinical pictures and causations covered by children's oral language disorders, very few systematic reviews have been conducted to obtain an overall view of the neuropsychological profiles of these children. Although the linguistic signs and symptoms of these disorders are well understood, the associated neuropsychological signs and symptoms have not been studied. In some cases, these neuropsychological signs cause greater learning problems in children than the actual language problems themselves. Childhood language disorders are associated with different neuropsychological problems. The most commonly associated neuropsychological deficits are problems involving memory, attention, executive functions, motor dysfunctions, temporal perception, tactile recognition, body scheme, spatial orientation and difficulties in visual discrimination. Mnemonic disorders (essentially in short-term and working auditory memory) are usually a common denominator in the different clinical pictures that make up language disorders. The mnemonic impairment associated to dyslalias deserves special attention as this disorder is sometimes similar to that seen in language problems deriving from clinical pictures with important neurological alterations.

  15. [A case of non-traumatic tension pneumocephalus 12 years after initial ventriculo-peritoneal shunt].

    Science.gov (United States)

    Idei, Masaru; Yamane, Kanji; Okita, Shinji; Kumano, Kiyoshi; Nakae, Ryuta; Nishizawa, Shigeru

    2009-10-01

    The authors presented a patient with non-traumatic tension pneumocephalus 12 years after initial ventriculo-peritoneal shunt. A 60-year-old man had a past history of subarachnoid hemorrhage. At ÿtime, he underwent clipping surgery and emplacement of a ventriculoperitoneal shunt with a low pressure valve, and was discharged from hospital in a bedridden condition. After 12 years, he was transferred to our hospital because of dysarthria and right hemiparesis. On admission, he had multiple dimples of the scalp in the left frontal area where craniotomy had been carried out 12 years before. Head CT scan revealed air located mainly in bilateral subdural space and collapsed ventricles. We suspected that he had a tension pneumocephalus through a scalp-subdural fistula induced by long-term low intracranial pressure. Operation for closure of the fistula was intended. During the operation a subdural abscess was found so, artificial bone and the shunt system was removed. We were able to detect the fistula from the defect of the scalp to the subdural space and closed it by repairing a scalp defect, using dural plasty. Postoperative clinical course was uneventful and the patient was discharged. About 6 month after the operation, cranioplasty and lumbo-peritoneal shunt was performed. We must recognize that appropriate management of intracranial pressure after installation of a ventriculo-peritoneal shunt is necessary for prevention of tension pneumocephalus.

  16. Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?

    Science.gov (United States)

    Melis, D; Balivo, F; Della Casa, R; Romano, A; Taurisano, R; Capaldo, B; Riccardi, G; Monsurrò, M R; Parenti, G; Andria, G

    2008-12-01

    Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed 'seronegative' myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.

  17. Cranial MRI in Wilson's disease

    International Nuclear Information System (INIS)

    Prayer, L.; Grimm, G.

    1990-01-01

    Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonanceimaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: Dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition - a proton-electron-dipolar-dipolar-interaction would there for be impossible. (orig.)

  18. A case of Neuro-Behcet's disease with an interesting CT scan picture

    International Nuclear Information System (INIS)

    Sato, Jinichi; Kamitani, Hiroshi; Masuzawa, Hideaki; Matsui, Takayoshi; Mizobe, Masafumi.

    1981-01-01

    A Case of Neuro-Behcet's disease with an interesting CT scan picture was reported. A 31-year-old man with a known history of Behcet's disease was transferred to the Kantoh-Teishin Hospital upon suspicion of a brain tumor in the basal ganglia. Right hemiparesis and mild dysarthria of three weeks' duration and long-standing bilateral blindness were noted. Computerized tomography (CT) demonstrated an enhanced mass in the basal ganglia and surrounding irregular, low-density area in the white matter of the left frotoparietal lobe. The ventricles were shifted to the right. Left carotid angiography revealed a shift of the anterior cerebral artery to the right and a mild deformity of the Sylvian triangle. No tumor stain or abnormal vessels were seen. After high doses of prednisolone, his condition gradually improved. A CT scan two weeks later revealed a decrease in the low-density area and the mass effect, but an unchanged pathological contrast enhancement in the basal ganglia. The contrast enhancement lasted for two months. The CT scan of Neuro-Behcet's disease was discussed. (author)

  19. Two in one: report of a patient with spinocerebellar ataxia types 2 and 10.

    Science.gov (United States)

    Kapur, Sachin S; Goldman, Jennifer G

    2012-09-01

    To report a rare case of the coexistence of 2 spinocerebellar ataxia (SCA) mutations in a single patient. Case report. University hospital, Movement Disorders Center. A 54-year-old man of Mexican, American Indian, and French descent with an 11-year history of gait and limb ataxia. Findings of clinical examination, magnetic resonance imaging, and video electroencephalographic monitoring. Neurologic history revealed a gradually progressive gait and limb ataxia along with muscle cramps and sensory symptoms in his distal extremities; examination revealed executive dysfunction, dysarthria, ataxia, and sensory neuronopathy. Episodes of loss of awareness were reported, but electroencephalograms were negative. Brain imaging demonstrated severe cerebellar and brainstem atrophy. Genetic evaluation of the case revealed mutations in both the SCA2 and SCA10 genes. Our patient has a unique combination of genetic mutations for 2 different SCAs, types 2 and 10, which to our knowledge, has not been previously reported. His clinical phenotype is largely consistent with SCA2, but his possible seizures and Mexican heritage suggest influences of SCA10.

  20. Clinically mild encephalitis/encephalopathy with a reversible splenial lesion caused by methicillin-sensitive Staphylococcus aureus bacteremia with toxic shock syndrome: a case report.

    Science.gov (United States)

    Kosami, Koki; Kenzaka, Tsuneaki; Sagara, Yuka; Minami, Kensuke; Matsumura, Masami

    2016-04-18

    Clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a mild encephalopathy caused by various pathological processes, but encephalopathy due to bacteria is rare. We report the case of a 45-year-old Japanese woman who on receiving chemotherapy for advanced breast cancer developed an altered mental status and dysarthria soon after fever from infection of a subcutaneous implantable port. Staphylococcus aureus was detected in her blood cultures. Magnetic resonance imaging (MRI) revealed an ovoid lesion in the central portion of the splenium of the corpus callosum (SCC). Although hypotension was not observed, we diagnosed probable toxic shock syndrome (TSS) based on fever (temperature: >38.9 °C), altered mental status, erythema, desquamation, thrombocytopenia, liver dysfunction, and creatine phosphokinase elevation. We administered antimicrobial therapy and her neurological symptoms improved gradually. The lesion in the SCC completely disappeared on MRI 7 days after disease onset. We diagnosed this case as MERS caused by S. aureus bacteremia with TSS. This is the first report of such a case, and we suggest that when a TSS patient presents with neurological symptoms, the possibility of MERS should be considered.

  1. Cerebellar induced differential polyglot aphasia: A neurolinguistic and fMRI study.

    Science.gov (United States)

    Mariën, Peter; van Dun, Kim; Van Dormael, Johanna; Vandenborre, Dorien; Keulen, Stefanie; Manto, Mario; Verhoeven, Jo; Abutalebi, Jubin

    2017-12-01

    Research has shown that linguistic functions in the bilingual brain are subserved by similar neural circuits as in monolinguals, but with extra-activity associated with cognitive and attentional control. Although a role for the right cerebellum in multilingual language processing has recently been acknowledged, a potential role of the left cerebellum remains largely unexplored. This paper reports the clinical and fMRI findings in a strongly right-handed (late) multilingual patient who developed differential polyglot aphasia, ataxic dysarthria and a selective decrease in executive function due to an ischemic stroke in the left cerebellum. fMRI revealed that lexical-semantic retrieval in the unaffected L1 was predominantly associated with activations in the left cortical areas (left prefrontal area and left postcentral gyrus), while naming in two affected non-native languages recruited a significantly larger bilateral functional network, including the cerebellum. It is hypothesized that the left cerebellar insult resulted in decreased right prefrontal hemisphere functioning due to a loss of cerebellar impulses through the cerebello-cerebral pathways. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Hoff Mann′s syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases

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    Atchayaram Nalini

    2014-01-01

    Full Text Available Two adult men presented with the rare Hoffmann′s syndrome (HS. Case 1: A 35-year-old male patient had progressive stiffness of lower limbs of 13 years and generalized muscle hypertrophy and myalgia of 3 years duration. Had periorbital edema, dry skin, generalized muscle hypertrophy and spastic dysarthria with hoarseness. Muscle power was normal. Jaw jerk and deep tendon reflexes were exaggerated. Case 2: A 24-year-old male patient presented with muscle hypertrophy from childhood, slowness in motor activities and hearing impairment. For 6 months, he had severe muscle pains, cramps and further increase in hypertrophy. He had yellow tinged, dry skin, hoarseness of voice, gross muscle hypertrophy and minimal weakness. Both had markedly elevated serum creatine kinase (CK levels and high thyroid stimulating hormone, low free triiodothyronine and free thyroxine levels. Levothyroxine treatment demonstrated remarkable reduction in muscle bulk at 2 months in both and no symptoms at 6 months. Magnetic resonance imaging of lower limbs in both cases revealed almost identical features with involvement of the muscles of posterior and adductor compartment of thighs and posterior and lateral compartments of the legs. Differential diagnosis of long duration muscle pseudohypertrophy and elevated CK levels should include HS.

  3. Successful Treatment of Rubral Tremor by High-Dose Trihexyphenidyl: A Case Report

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    Li-Min Liou

    2006-03-01

    Full Text Available A 24-year-old male suffered from acute-onset right-sided hemiparesis, dysarthria, and ophthalmoplegia in February 2001. Brain magnetic resonance imaging revealed a cavernous angioma with hemorrhage over the left thalamus. Moreover, some rhythmic, coarse, low-frequency (2-3 Hz oscillation over the right wrist and elbow was noted 1 month later. Action tremor was more predominant than resting tremor. Rubral tremor was diagnosed on the basis of the clinical presentation and tremography analysis. Rubral tremor is not unusual, and pharmacotherapy is nearly always ineffective in clinical practice. Deep brain stimulation, thalamotomy, and pallidotomy are all considered effective according to recent research. However, they are either very expensive or invasive, and involve surgical risks. In our patient, we tried valproate, clonazepam, and verapamil one after another, but all in vain. Finally, titration of trihexyphenidyl provided significant benefit. The tremor was successfully controlled by a single high daily dose of trihexyphenidyl (38 mg without severe or uncomfortable side effects. Here, we report a case of successful monotherapy of rubral tremor with high-dose trihexyphenidyl.

  4. Acute Thyrotoxic Bulbar Myopathy with Encephalopathic Behaviour: An Uncommon Complication of Hyperthyroidism

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    Neeraja J. Boddu

    2013-01-01

    Full Text Available Objective. Acute thyrotoxic bulbar palsy is rare, severe, and rapidly progressive. We describe a case of thyrotoxicosis with bulbar palsy, encephalopathy, and pyramidal tract dysfunction. Case Report. 64-year-old white male with toxic multinodular goiter presented with rapid atrial fibrillation. He had mild tremor, normal cranial nerve examination, 4/5 strength in all extremities, normal reflexes, and down going plantars. TSH was low at 0.09 (normal: 0.34–5.6 uIU/mL, and free T4 was high at 5.22 (normal: 0.47–1.41 ng/dL. Despite optimal AV nodal blockade, he had persistent rapid atrial fibrillation. He later developed cervical dystonia, rigidity, clonus, dysarthria, dysphagia, vocal cord palsy, and absent gag reflex. Thyroid storm was suspected. Neuroimaging and cerebrospinal fluid cultures were nondiagnostic. Acetylcholine receptor antibodies were negative. Swallow ability was impaired with heavy secretions. Remarkable improvement in symptoms was noted after initiation of treatment for thyroid storm. Conclusion. Pyramidal tract symptoms and bulbar palsy may occur with thyrotoxicosis. Cranial nerve involvement and encephalopathy raise a question of primary brain mechanism causing bulbar palsy. This is reversible with prompt treatment of thyroid storm.

  5. Speech recognition training for enhancing written language generation by a traumatic brain injury survivor.

    Science.gov (United States)

    Manasse, N J; Hux, K; Rankin-Erickson, J L

    2000-11-01

    Impairments in motor functioning, language processing, and cognitive status may impact the written language performance of traumatic brain injury (TBI) survivors. One strategy to minimize the impact of these impairments is to use a speech recognition system. The purpose of this study was to explore the effect of mild dysarthria and mild cognitive-communication deficits secondary to TBI on a 19-year-old survivor's mastery and use of such a system-specifically, Dragon Naturally Speaking. Data included the % of the participant's words accurately perceived by the system over time, the participant's accuracy over time in using commands for navigation and error correction, and quantitative and qualitative changes in the participant's written texts generated with and without the use of the speech recognition system. Results showed that Dragon NaturallySpeaking was approximately 80% accurate in perceiving words spoken by the participant, and the participant quickly and easily mastered all navigation and error correction commands presented. Quantitatively, the participant produced a greater amount of text using traditional word processing and a standard keyboard than using the speech recognition system. Minimal qualitative differences appeared between writing samples. Discussion of factors that may have contributed to the obtained results and that may affect the generalization of the findings to other TBI survivors is provided.

  6. Intention tremor after head injury

    International Nuclear Information System (INIS)

    Iwadate, Yasuo; Saeki, Naokatsu; Namba, Hiroki; Odaki, Masaru; Oka, Nobuo.

    1989-01-01

    Eight cases of intention tremor as a late complication of head injury were investigated. The patients ranged in age from 3 to 24 years. All received severe head injuries and lapsed into coma immediately afterward (Glasgow Coma Scale scores ≤8). Six patients exhibited decerebration or decortication. Hemiparesis was present in six cases and oculomotor nerve palsy in four. In the chronic stage, all patients displayed some degree of impairment of higher cortical function and five had dysarthria and/or ataxia. Initial computed tomography (CT) scans within 3 hours after the injury were obtained in five cases, of which four showed a hemorrhagic lesion in the midbrain or its surroundings. Other CT findings were diffuse cerebral swelling (four cases), intraventricular hemorrhage (three), and multiple hemorrhagic lesions (two). In the chronic stage, generalized cortical atrophy or ventricular enlargement was noted in five cases. These clinical features and CT findings indicate diffuse brain damage as well as midbrain damage and may reflect shearing injury. (author)

  7. Clinical presentation of juvenile Huntington disease

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    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  8. Diagnostic profiles of patients with late-onset Creutzfeldt-Jakob disease differ from those of younger Creutzfeldt-Jakob patients: a historical cohort study using data from the German National Reference Center.

    Science.gov (United States)

    Karch, André; Raddatz, Lena Maria; Ponto, Claudia; Hermann, Peter; Summers, David; Zerr, Inga

    2014-05-01

    In contrast to other neurodegenerative diseases, sporadic Creutzfeldt-Jakob disease (sCJD) is rarely diagnosed in patients older than 75 years. Data describing the characteristics of sCJD in the very old are rare and inconclusive. Therefore, a historical cohort study was designed to evaluate clinical, cerebrospinal fluid (CSF), electroencephalography (EEG), and magnetic resonance imaging (MRI) features of this group. Patients older than 75 years identified via the German surveillance program from 2001 to 2012 (n = 73) were compared to a random subsample of sCJD patients younger than 75 (n = 73) from the same time period using an historical cohort design. Older patients showed a faster disease progression represented by an earlier point of diagnosis and a shorter survival time (p disease, older patients presented slightly more often with dementia (p = 0.127) or dysarthria (p = 0.238), whereas disorders of the extrapyramidal (p = 0.056) and visual system (p = 0.015) were more common in the younger group. Atypical MRI profiles such as MRI lesions restricted to one hemisphere (p Creutzfeldt-Jakob disease cases in patients older than 75 years seems likely due to atypical clinical and radiological presentation. This might contribute to lower sCJD incidence rates in this age group.

  9. Acute Carotid Artery Stent Thrombosis Due to Dual Antiplatelet Resistance

    International Nuclear Information System (INIS)

    Köklü, Erkan; Arslan, Şakir; Yüksel, İsa Öner; Bayar, Nermin; Koç, Pınar

    2015-01-01

    Carotid artery stenting (CAS) is a revascularization modality that is an alternative to carotid endarterectomy. The efficacy of CAS in primary and secondary prevention from ischemic stroke has been demonstrated in various trials. Acute thrombosis of CAS is a rare complication that can lead to dramatic and catastrophic consequences. We discuss a case of acute CAS thrombosis in a patient who had previously undergone successful CAS. CAS was performed in a 73-year-old man who had had dysarthria lasting 2 weeks with 95 % stenosis in his left internal carotid artery. An acute cerebrovascular event resulting in right-sided hemiplegia developed 24 h after the procedure. Computed tomographic carotid angiography revealed complete occlusion of the stent with thrombus. The cause of stent thrombosis was thought to be antiaggregant resistance to both acetylsalicylic acid and clopidogrel. The most important cause of acute CAS thrombosis is inadequate or ineffective antiaggregant therapy. Evaluating patients who are candidates for CAS for acetylsalicylic acid and clopidogrel resistance may preclude this complication

  10. Diabetic Ketoacidosis in a Patient with Acromegaly

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    Yen-Ling Chen

    2007-09-01

    Full Text Available Diabetes mellitus develops in about 10% of acromegalic patients, usually secondary to insulin resistance caused by growth hormone excess. Diabetic ketoacidosis is a result of relative insulin deficiency and is a rare feature of acromegaly. Here, we present one case of this disorder. A 57-year-old man came to the emergency room due to 2 weeks of dizziness. He also had polyuria, polydipsia, nausea, diplopia, blurred vision and dysarthria. His plasma glucose level was 32.06 mmol/L, plasma osmolarity was 322 mOsm/L, arterial pH was 7.30, level of bicarbonates was 18 mmol/L, urine ketones was 4+, and HbA1c was 14.1%. No specific cause for the development of this metabolic derangement could be found. He displayed clinical features of acromegaly during admission, which was confirmed by an elevated growth hormone level and pituitary macroadenoma shown on magnetic resonance imaging. The patient underwent total transsphe-noid tumor removal 2 weeks later; plasma glucose levels became normal thereafter.

  11. [A sporadic case of episodic ataxia with nystagmus (EA-2)].

    Science.gov (United States)

    Namekawa, M; Takiyama, Y; Ueno, N; Nishizawa, M

    1998-05-01

    A 39-year-old man with episodic ataxia with nystagmus (EA-2) was reported. He showed intermittent cerebellar dysfunction, i.e., ataxia, nystagmus, dysarthria and vertigo, since he was 10 years old. Although this attack lasted for several hours, he was normal with exception of interictal nystagmus. His parents and sister showed no episodic ataxia. We ruled out the diseases, which may cause episodic ataxia, such as multiple sclerosis, vascular disorders, metabolic disorders and congenital anomalies. He was released from the attack by treatment with acetazolamide. EA-2 has been associated with mutations in the alpha 1A-voltage dependent calcium channel gene (CACNL1A4), which is also affected in familial hemiplegic migraine (FMH) and spinocerebellar ataxia type 6 (SCA6). In EA-2, frame-shift mutation leading to premature stop and splice-site mutation leading to truncated, non-functional channel protein have been reported. However, our patient did not have the mutations in the CACNL1A4 gene that were previously reported. In addition, our patient did not have an expanded CAG allele in the CACNL1A4 gene which is responsible for SCA6. Further examination is required to address whether a new mutation exists in the CACNL1A4 gene in our patient.

  12. Basilar migraine.

    Science.gov (United States)

    Kuhn, W F; Kuhn, S C; Daylida, L

    1997-03-01

    Basilar migraine is a complicated headache which the International Headache Society describes as 'migraine with aura symptoms clearly originating from the brainstem or from both occipital lobes'. For years this headache was thought to originate from a transient disturbance in the vertebrobasilar circulation, but more recent studies suggest that a central neuronal disorder may be the source of migraine. Basilar migraines may have certain symptoms which are similar to other neurologic, vascular, psychiatric and metabolic diseases, yet there are specific criteria which can help differentiate it from other diagnoses. It is characterized by a throbbing occipital headache which may be preceded by an aura. The unusual symptoms of basilar migraine, which may precede and continue throughout the duration of the headache and even after it, include bilateral visual symptoms, altered mental status, vertigo, gait ataxia, bilateral paresthesia, bilateral paralysis and dysarthria. We describe a 29-year-old black female whose husband brought her to the emergency department complaining of confusion, headache, and left-sided weakness for 2 h prior to arrival.

  13. The correlation of the thalamic lesions on MRI with cerebral cortical blood flow in patients with lacunar infarction

    International Nuclear Information System (INIS)

    Nabatame, Hidehiko; Nakamura, Kazuo; Matsuda, Minoru; Fujimoto, Naoki; Fukuyama, Hidenao.

    1995-01-01

    We performed MRI and measured cerebral blood flow (CBF) using 123 I-IMP SPECT microsphere model in twenty three right-handed patients with lacunar infarction. Twelve of 23 patients showed chronic deterioration of dysarthria and gait disturbance. The mental function of the patients was evaluated by the Mini-Mental State (MMS) examination. The area of high intensity on T2-weighted images was quantitatively analyzed in the cerebral white matter (WM), lenticular nucleus (LN) and thalamus (THA). The score of MMS was positively correlated with the local CBF in the bilateral frontal, parietal, temporal and occipital cortices (p<0.05). Also, the area of high intensity in the left THA showed a significant negative correlation with local CBF of the bilateral frontal, parietal, temporal and occipital cortices (p<0.001). The high intensity areas of the bilateral LN, right WM and right THA had a significant but weaker negative correlation with local CBF of some cortices. These findings suggest that thalamic lesions on the dominant side play an important role in the reduction of cortical blood flow and the deterioration of mental functions in patients with lacunar infarction. (author)

  14. Evolving Concepts in Posterior Subthalamic Area Deep Brain Stimulation for Treatment of Tremor: Surgical Neuroanatomy and Practical Considerations.

    Science.gov (United States)

    Ramirez-Zamora, Adolfo; Smith, Heather; Kumar, Vignessh; Prusik, Julia; Phookan, Sujoy; Pilitsis, Julie G

    2016-01-01

    Although thalamic deep brain stimulation (DBS) has been established as an effective therapy for refractory tremor in Parkinson's disease and essential tremor, reports investigating the efficacy of posterior subthalamic area (PSA) DBS for severe, debilitating tremors continue to emerge. However, questions regarding the optimal anatomical target, surgical approach, programming paradigms and effectiveness compared to other targets remain. In this report, we aimed to review the current literature to assess different stereotactic techniques, anatomical considerations, adverse effects and stimulation settings in PSA DBS. A comprehensive literature review was performed searching for articles discussing tremors and PSA stimulation. We performed a quantitative analysis comparing different DBS tremor targets. Tremor improvement is consistently documented in most reports with an average reduction in tremor of 79% depending on the specific tremor syndrome. Tremor benefit in patients with multiple sclerosis (MS) tremor was significantly higher than for other stimulation targets. Transient paresthesias, imbalance, dizziness and dysarthria are the most common side effects with PSA DBS. PSA DBS is an effective and safe treatment for tremor control and should be considered in patients with refractory tremors with associated cerebellar or dystonic features, proximal tremors and MS tremor. © 2016 S. Karger AG, Basel.

  15. Multidisciplinary Assessment and Diagnosis of Conversion Disorder in a Patient with Foreign Accent Syndrome

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    Harrison N. Jones

    2011-01-01

    Full Text Available Multiple reports have described patients with disordered articulation and prosody, often following acute aphasia, dysarthria, or apraxia of speech, which results in the perception by listeners of a foreign-like accent. These features led to the term foreign accent syndrome (FAS, a speech disorder with perceptual features that suggest an indistinct, non-native speaking accent. Also correctly known as psuedoforeign accent, the speech does not typically match a specific foreign accent, but is rather a constellation of speech features that result in the perception of a foreign accent by listeners. The primary etiologies of FAS are cerebrovascular accidents or traumatic brain injuries which affect cortical and subcortical regions critical to expressive speech and language production. Far fewer cases of FAS associated with psychiatric conditions have been reported. We will present the clinical history, neurological examination, neuropsychological assessment, cognitive-behavioral and biofeedback assessments, and motor speech examination of a patient with FAS without a known vascular, traumatic, or infectious precipitant. Repeated multidisciplinary examinations of this patient provided convergent evidence in support of FAS secondary to conversion disorder. We discuss these findings and their implications for evaluation and treatment of rare neurological and psychiatric conditions.

  16. A clinical case of dentato-rubro-pallido-luysian atrophy (DRPLA)

    International Nuclear Information System (INIS)

    Katsube, Tomoko; Kobayashi, Shotai; Yamaguchi, Shuhei; Tsunematsu, Tokugoro; Shimada, Yasuo.

    1987-01-01

    Dentato-rubro-pallido-luysian atrophy (DRPLA) has been described as an atypical type of spino-cerebellar degeneration by J.K. Smith (1958). Choreo-athetoid movement characterizes the DRPLA. We here report a case of DRPLA that was suspected from clinical symptoms and CT brain examinations. Case report: A 36-year-old man was admitted to the hospital because of involuntary movements of the extremities in July, 1978. He had epileptic seizures since the age of 25. Since then, his intelligence had gradually been getting worse. At the same time, dysarthria (slow and slurred speech) also appeared. The neurological examination on admission revealed choreo-athetoid movements, with ataxia of the extremities, trancal ataxia, ataxic speech, moderate dementia, and a disturbance of the smooth-pursuit eye movements. He could not maintain his eye position in a steady gaze, but nystagmus was absent. A brain CT scan revealed a marked atrophy of the upper brain stem and cerebellar peduncle. The cerebral atrophy was mild, and caudate nuclei were spared. The electroencephalograph showed a slow, diffuse, high-voltage wave, with an associated spike and waves. The cerebrospinal fluid examination was normal. An electrophysiological examination revealed no myoclonus in the extremities. These clinical findings suggested that this case is a pseudo-Huntington form of DRPLA. (author)

  17. Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.

    Science.gov (United States)

    Vogel, Adam P; Folker, Joanne; Poole, Matthew L

    2014-10-28

    Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. The type of speech impairment most commonly reported in hereditary ataxias is dysarthria. Dysarthria is a collective term referring to a group of movement disorders affecting the muscular control of speech. Dysarthria affects the ability of individuals to communicate and to participate in society. This in turn reduces quality of life. Given the harmful impact of speech disorder on a person's functioning, treatment of speech impairment in these conditions is important and evidence-based interventions are needed. To assess the effects of interventions for speech disorder in adults and children with Friedreich ataxia and other hereditary ataxias. On 14 October 2013, we searched the Cochrane Neuromuscular Disease Group Specialized Register, CENTRAL, MEDLINE, EMBASE, CINAHL Plus, PsycINFO, Education Resources Information Center (ERIC), Linguistics and Language Behavior Abstracts (LLBA), Dissertation Abstracts and trials registries. We checked all references in the identified trials to identify any additional published data. We considered for inclusion randomised controlled trials (RCTs) or quasi-RCTs that compared treatments for hereditary ataxias with no treatment, placebo or another treatment or combination of treatments, where investigators measured speech production. Two review authors independently selected trials for inclusion, extracted data and assessed the risk of bias of included studies using the standard methodological procedures expected by The Cochrane Collaboration. The review authors collected information on adverse effects from included studies. We did not conduct a meta-analysis as no two studies utilised the same assessment procedures within the same treatment. Fourteen clinical trials, involving 721 participants, met the criteria for inclusion in the review. Thirteen studies compared a pharmaceutical treatment with placebo (or a

  18. Measures to Evaluate the Effects of DBS on Speech Production

    Science.gov (United States)

    Weismer, Gary; Yunusova, Yana; Bunton, Kate

    2011-01-01

    The purpose of this paper is to review and evaluate measures of speech production that could be used to document effects of Deep Brain Stimulation (DBS) on speech performance, especially in persons with Parkinson disease (PD). A small set of evaluative criteria for these measures is presented first, followed by consideration of several speech physiology and speech acoustic measures that have been studied frequently and reported on in the literature on normal speech production, and speech production affected by neuromotor disorders (dysarthria). Each measure is reviewed and evaluated against the evaluative criteria. Embedded within this review and evaluation is a presentation of new data relating speech motions to speech intelligibility measures in speakers with PD, amyotrophic lateral sclerosis (ALS), and control speakers (CS). These data are used to support the conclusion that at the present time the slope of second formant transitions (F2 slope), an acoustic measure, is well suited to make inferences to speech motion and to predict speech intelligibility. The use of other measures should not be ruled out, however, and we encourage further development of evaluative criteria for speech measures designed to probe the effects of DBS or any treatment with potential effects on speech production and communication skills. PMID:24932066

  19. De novo microdeletion of BCL11A is associated with severe speech sound disorder.

    Science.gov (United States)

    Peter, Beate; Matsushita, Mark; Oda, Kaori; Raskind, Wendy

    2014-08-01

    In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross motor delays. The size of the deletions ranged from 0.3 to 5.7 Mb, where the smallest deletion involved the BCL11A, PAPOLG, and REL genes. Here we report on an 11-year-old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of general oral and gross motor dyspraxia and hypotonia as well as expressive language and mild intellectual delays. BCL11A is situated within the dyslexia susceptibility candidate region 3 (DYX3) candidate region on chromosome 2. The present case is the first to involve a single gene within the microdeletion region and a phenotype restricted to a subset of the traits observed in other cases with more extensive deletions. © 2014 Wiley Periodicals, Inc.

  20. Cerebral Ischemia versus MS in Young Adults Clinical Imaging Diagnosis Difficulties and Recovery Methods

    Directory of Open Access Journals (Sweden)

    Any DOCU-AXELERAD

    2012-12-01

    Full Text Available Ischemia in young adults is often the result of non-atherosclerotic vasculopathies, cardiac embolism or clotting disorders. One third of young adults ischemic stroke etiology remains undetermined. Materials and methods: We present the case of a patient aged 42, diagnosed with probable MS without cardiovascular or metabolic risk factors, presented to our clinic for decrease of force at right limbs and recent dysarthria. Results and discussion: The history revealed recurrent episodes of right hemi-body numbness and vertigo labeled as relapse in MS. Patient is non smoker, does not take oral contraceptives and has no history of cerebrovascular disease in the family. Extensive imaging and laboratory investigations confirms the ischemic clinical picture, carotid Doppler ultrasound showing significant stenosis of the bulbo-left carotid. The patient is guided to the cardiovascular surgery clinic for specialized treatment. Two weeks postoperatively we apply a kinetic-therapy program. Conclusion: Uncertain imaging and lack of vascular and metabolic risk factors do not preclude ischemia in young adults.

  1. Linking Essential Tremor to the Cerebellum: Clinical Evidence.

    Science.gov (United States)

    Benito-León, Julián; Labiano-Fontcuberta, Andrés

    2016-06-01

    Essential tremor (ET) might be a family of diseases unified by the presence of kinetic tremor, but also showing etiological, pathological, and clinical heterogeneity. In this review, we will describe the most significant clinical evidence, which suggests that ET is linked to the cerebellum. Data for this review were identified by searching PUBMED (January 1966 to May 2015) crossing the terms "essential tremor" (ET) and "cerebellum," which yielded 201 entries, 11 of which included the term "cerebellum" in the article title. This was supplemented by articles in the author's files that pertained to this topic. The wide spectrum of clinical features of ET that suggest that it originates as a cerebellar or cerebellar outflow problem include the presence of intentional tremor, gait and balance abnormalities, subtle features of dysarthria, and oculomotor abnormalities, as well as deficits in eye-hand coordination, motor learning deficits, incoordination during spiral drawing task, abnormalities in motor timing and visual reaction time, impairment of social abilities, improvement in tremor after cerebellar stroke, efficacy of deep brain stimulation (which blocks cerebellar outflow), and cognitive dysfunction. It is unlikely, however, that cerebellar dysfunction, per se, fully explains ET-associated dementia, because the cognitive deficits that have been described in patients with cerebellar lesions are generally mild. Overall, a variety of clinical findings suggest that in at least a sizable proportion of patients with ET, there is an underlying abnormality of the cerebellum and/or its pathways.

  2. Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

    Science.gov (United States)

    Helle, Johan Robert; Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Fannemel, Madeleine; Frengen, Eirik

    2013-05-01

    The transcription factor SOX3 is widely expressed in early vertebrate brain development. In humans, duplication of SOX3 and polyalanine expansions at its C-terminus may cause intellectual disability and hypopituitarism. Sox3 knock-out mice show a variable phenotype including structural and functional anomalies affecting the branchial arches and midline cerebral structures such as the optic chiasm and the hypothalamo-pituitary axis. SOX3 is claimed to be required in normal brain development and function in mice and humans, as well as in pituitary and craniofacial development. We report on an 8-year-old boy with a 2.1 Mb deletion in Xq27.1q27.2, which was found to be inherited from his healthy mother. To our knowledge, this is the smallest deletion including the entire SOX3 gene in a male reported to date. He is mildly intellectually disabled with language delay, dysarthria, behavior problems, minor facial anomalies, and hyperphagia. Hormone levels including growth, adrenocorticotropic and thyroid stimulating hormones are normal. Magnetic resonance imaging (MRI) at age 6 years showed no obvious brain anomalies. Genetic redundancy between the three members of the B1 subfamily of SOX proteins during early human brain development likely explains the apparently normal development of brain structures in our patient who is nullisomic for SOX3. Copyright © 2012 Wiley Periodicals, Inc.

  3. Neurosyphilis with dementia and bilateral hippocampal atrophy on brain magnetic resonance imaging

    International Nuclear Information System (INIS)

    Mehrabian, S.; Raycheva, M.; Traykova, M.; Stankova, T.; Penev, L.; Georgieva-Kozarova, G.; Grigorova, O.; Traykov, L.

    2012-01-01

    Full text: Background: This article reports a rare case of active neurosyphilis in a 33-years-old man with mild to moderate dementia and marked hippocampal atrophy, mimicking early onset Alzheimer's disease. Few number of cases described bilateral hippocampal atrophy mimicking Alzheimer's disease in neurosyphilis. Case presentation: The clinical feature is characterized by a progressive cognitive decline and behavioral changes for the last 18 months. Neuropsychological examination revealed mild to moderate dementia (MMSE=16) with impaired memory, attention and executive dysfunction. Pyramidal, extrapyramidal signs, dysarthria and impairment in coordination were documented. Brain magnetic resonance imaging showed cortical atrophy with marked bilateral hippocampal atrophy. The diagnosis of active neurosyphilis was based on positive results of Venereal Disease Research Laboratory test - Treponema Pallidum. Hemagglutination reactions in blood and cerebrospinal fluid samples. In addition, cerebrospinal fluid analysis showed pleocytosis and elevated protein levels. High dose intravenous penicillin therapy was administered. During the follow up examination at 6 month, the clinical signs, and neuropsychological examinations, and cerebrospinal fluid samples showed improvement. Conclusion: This case underlines the importance of early diagnosis of neurosyphilis. The results suggest that neurosyphilis should be considered when magnetic resonance imaging results indicate mesiotemporal abnormalities and hippocampal atrophy. Neurosyphilis is a treatable condition and needs early aggressive antibiotic therapy

  4. Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

    Science.gov (United States)

    Brunetti, Dario; Dusi, Sabrina; Giordano, Carla; Lamperti, Costanza; Morbin, Michela; Fugnanesi, Valeria; Marchet, Silvia; Fagiolari, Gigliola; Sibon, Ody; Moggio, Maurizio; d’Amati, Giulia

    2014-01-01

    Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation. PANK2 encodes the mitochondrial enzyme pantothenate kinase type 2, responsible for the phosphorylation of pantothenate or vitamin B5 in the biosynthesis of co-enzyme A. A Pank2 knockout (Pank2−/−) mouse model did not recapitulate the human disease but showed azoospermia and mitochondrial dysfunctions. We challenged this mouse model with a low glucose and high lipid content diet (ketogenic diet) to stimulate lipid use by mitochondrial beta-oxidation. In the presence of a shortage of co-enzyme A, this diet could evoke a general impairment of bioenergetic metabolism. Only Pank2−/− mice fed with a ketogenic diet developed a pantothenate kinase-associated neurodegeneration-like syndrome characterized by severe motor dysfunction, neurodegeneration and severely altered mitochondria in the central and peripheral nervous systems. These mice also showed structural alteration of muscle morphology, which was comparable with that observed in a patient with pantothenate kinase-associated neurodegeneration. We here demonstrate that pantethine administration can prevent the onset of the neuromuscular phenotype in mice suggesting the possibility of experimental treatment in patients with pantothenate kinase-associated neurodegeneration. PMID:24316510

  5. Superficial siderosis: Case report and literature review

    Directory of Open Access Journals (Sweden)

    Kresojević Nikola D.

    2013-01-01

    Full Text Available Introduction. Superficial siderosis (SS is caused by chronic subarachnoid bleeding and is characterized by free iron and hemosiderin deposition along the pial and subpial structures of central nervous system. SS leads to progressive and irreversible CNS damage. The most common causes of chronic subarachnoidal bleeding are tumors, head and spinal cord trauma, arteriovenous malformations and aneurysms. SS is characterized by clinical triad: sensorineural hearing loss, cerebellar ataxia and piramydal signs. Brain MR imaging is the investigation of choice for the diagnosis of SS. Typical findings include hypointensities seen on T2­weighted MR imaging around the brain, cerebellum, brain stem, spinal cord, VIII cranial nerve and atrophy of cerebellum and medulla. Case Outline. A 71-year­old female patient noticed hand tremor in the middle of the third decade of life, and later slowly progressive bilateral hearing loss. At the age of 64 she developed un­ steady gate, hand clumsiness and dysarthria, to became incapable of independent walking and standing five years later. Clinical course and brain MRI findings were typical for SS, but additional investigation did not reveal the couse of subarahnoidal bleeding. Conclusion. SS represents a rare and under­recognized condition that must be considered in all patients with cerebellar syndrome of unknown cause. Early diagnosis of SS in some cases with identified cause of chronic bleeding allowes therapeutic interventions that may prevent further progression of the disease. [Projekat Ministarstva nauke Republike Srbije, br. 175090

  6. Lingual dyskinesia and tics: a novel presentation of copper-metabolism disorder.

    Science.gov (United States)

    Goez, Helly R; Jacob, Francois D; Yager, Jerome Y

    2011-02-01

    Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia. His serum copper and ceruloplasmin levels were low, but his urinary copper level was elevated after penicillamine challenge. We conclude that copper-metabolism disorders should be included in the differential diagnosis for movement disorders, even in cases with highly unusual presentations, because many of them are treatable. Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology.

  7. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

    Directory of Open Access Journals (Sweden)

    Sanjeev Rajakulendran

    Full Text Available Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological and mitochondrial genetic features of four unrelated patients with homozygous A467T mutations. One patient presented with the severe and lethal Alpers-Huttenlocher syndrome, which was confirmed on neuropathology, and was found to have a depletion of mitochondrial DNA (mtDNA. Of the remaining three patients, one presented with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS, one with a phenotype in the Myoclonic Epilepsy, Myopathy and Sensory Ataxia (MEMSA spectrum and one with Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO. All three had secondary accumulation of multiple mtDNA deletions. Complete sequence analysis of muscle mtDNA using the MitoChip resequencing chip in all four cases demonstrated significant variation in mtDNA, including a pathogenic MT-ND5 mutation in one patient. These data highlight the variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation, which may result from factors such as the mtDNA genetic background, nuclear genetic modifiers and environmental stressors.

  8. Speech and language intervention in bilinguals

    Directory of Open Access Journals (Sweden)

    Eliane Ramos

    2011-12-01

    Full Text Available Increasingly, speech and language pathologists (SLPs around the world are faced with the unique set of issues presented by their bilingual clients. Some professional associations in different countries have presented recommendations when assessing and treating bilingual populations. In children, most of the studies have focused on intervention for language and phonology/ articulation impairments and very few focus on stuttering. In general, studies of language intervention tend to agree that intervention in the first language (L1 either increase performance on L2 or does not hinder it. In bilingual adults, monolingual versus bilingual intervention is especially relevant in cases of aphasia; dysarthria in bilinguals has been barely approached. Most studies of cross-linguistic effects in bilingual aphasics have focused on lexical retrieval training. It has been noted that even though a majority of studies have disclosed a cross-linguistic generalization from one language to the other, some methodological weaknesses are evident. It is concluded that even though speech and language intervention in bilinguals represents a most important clinical area in speech language pathology, much more research using larger samples and controlling for potentially confounding variables is evidently required.

  9. Speech-Based Human and Service Robot Interaction: An Application for Mexican Dysarthric People

    Directory of Open Access Journals (Sweden)

    Santiago Omar Caballero Morales

    2013-01-01

    Full Text Available Dysarthria is a motor speech disorder due to weakness or poor coordination of the speech muscles. This condition can be caused by a stroke, traumatic brain injury, or by a degenerative neurological disease. Commonly, people with this disorder also have muscular dystrophy, which restricts their use of switches or keyboards for communication or control of assistive devices (i.e., an electric wheelchair or a service robot. In this case, speech recognition is an attractive alternative for interaction and control of service robots, despite the difficulty of achieving robust recognition performance. In this paper we present a speech recognition system for human and service robot interaction for Mexican Spanish dysarthric speakers. The core of the system consisted of a Speaker Adaptive (SA recognition system trained with normal-speech. Features such as on-line control of the language model perplexity and the adding of vocabulary, contribute to high recognition performance. Others, such as assessment and text-to-speech (TTS synthesis, contribute to a more complete interaction with a service robot. Live tests were performed with two mild dysarthric speakers, achieving recognition accuracies of 90–95% for spontaneous speech and 95–100% of accomplished simulated service robot tasks.

  10. Factors associated with the misdiagnosis of cerebellar infarction.

    Science.gov (United States)

    Masuda, Yoko; Tei, Hideaki; Shimizu, Satoru; Uchiyama, Shinichiro

    2013-10-01

    Cerebellar infarction is easily misdiagnosed or underdiagnosed. In this study, we investigated factors leading to misdiagnosis of cerebellar infarction in patients with acute ischemic stroke. Data on neurological and radiological findings from 114 consecutive patients with acute cerebellar infarction were analyzed. We investigated factors associated with misdiagnosis from the data on clinical findings. Thirty-two (28%) patients were misdiagnosed on admission. Misdiagnosis was significantly more frequent in patients below 60 years of age and in patients with vertebral artery dissection, and significantly less frequent in patients with dysarthria. It tended to be more frequent in patients with the medial branch of posterior inferior cerebellar artery territory infarction, and infrequent in patients with the medial branch of the superior cerebellar artery territory infarction. Thirty out of 32 (94%) misdiagnosed patients were seen by physicians that were not neurologists at the first visit. Twenty-four of 32 (75%) misdiagnosed patients were screened only by brain CT. However, patients were not checked by brain MRI or follow-up CT until their conditions worsened. Patients below 60 years of age and patients with vertebral artery dissection are more likely to have a cerebellar infarction misdiagnosed by physicians other than neurologists. Copyright © 2013 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  11. Brain perfusion SPECT and FDG PET findings in a patient with ballism associated with hyperthyroidism

    International Nuclear Information System (INIS)

    Bae, Sang Kyun; Kim, Sang Jin

    2007-01-01

    Ballism is a very rare presentation in association with hyperthyroidism. We describe a 22-year-old lady with episodes of recurrent ballism and hyperthyroidism. A 22-year-old lady was admitted to Neurology department because of sudden development of vigorous involuntary movement and dysarthria. She was diagnosed as hyperthyroidism at the age 12 and treated irregularly. She arrived at the emergency room because of sudden onset of involuntary movement. Computed tomography (CT) scan and Magnetic Resonance Imaging (MRI) of brain was normal. Serum levels of thyroid hormone were increased (Free T4 3.15 ng/dl; normal range 0.93-1.71 ng/dl), whereas thyroid-stimulating hormone (TSH) was undetectable. The thyroid gland was diffusely enlarged and exophthalmos was found. She had been given antithyroid medication from local clinic but medicated irregularly. Technetium thyroid scan reveals diffusely enlarged thyroid with increased radioactivity. Radioiodine uptake in 24 hours was 71 %. Brain perfusion SPECT using Tc-99m ECD reveals asymmetrical perfusion pattern in basal ganglia. Brain PET using F-18 FDG reveals increased metabolism at both caudate nucleus and putamen. She was treated with radioiodine and involuntary movement was improved. There is only few report on ballism associated with hyperthyroidism and no report on functional brain imaging. Brain perfusion SPECT and FDG PET may give useful information about functional status of brain in patients with ballism associated with hyperthyroidism in case of normal anatomical finding on CT/MRI

  12. Urgent Bypass Surgery Following Failed Endovascular Treatment in Acute Symptomatic Stroke Patient With MCA Occlusion.

    Science.gov (United States)

    Lee, Chang Yeob; Kim, Chang Hyun; Lee, Chang-Young; Sohn, Sung-Il; Hong, Jeong-Ho

    2017-01-01

    Although the benefits of extracranial-intracranial bypass surgery remain controversial, there is some surgical rationale for the augmentation of cerebral blood flow in cases of acute ischemic stroke with hemodynamic instability. We report a case of a 62-year-old woman who suddenly developed right hemiplegia and global aphasia. Initial magnetic resonance imaging and magnetic resonance angiography revealed a small acute ischemic lesion in left parietal lobe with occlusion at the left middle cerebral artery. We performed an endovascular thrombectomy, which failed. Her neurological deficits remained unchanged. On the basis of immediate postendovascular magnetic resonance perfusion, diffusion-weighted imaging (DWI), and neurological examination, an obvious clinical-DWI and a DWI-perfusion-weighted imaging mismatch were detected. We decided to perform emergency superficial temporal artery to middle cerebral artery bypass to prevent further progression of cerebral ischemia. On a 3-month follow-up, neurological deficits remained minimal motor aphasia and dysarthria. Following failed endovascular treatment in patients with acute symptoms attributed to major cerebral artery occlusion, we recommend immediate multimodal neuroimaging. If there are clinical-DWI and DWI-perfusion-weighted imaging mismatch indications, surgical revascularization could be considered as the next salvageable strategy.

  13. Altered resting-state network connectivity in stroke patients with and without apraxia of speech

    Directory of Open Access Journals (Sweden)

    Anneliese B. New

    2015-01-01

    Full Text Available Motor speech disorders, including apraxia of speech (AOS, account for over 50% of the communication disorders following stroke. Given its prevalence and impact, and the need to understand its neural mechanisms, we used resting state functional MRI to examine functional connectivity within a network of regions previously hypothesized as being associated with AOS (bilateral anterior insula (aINS, inferior frontal gyrus (IFG, and ventral premotor cortex (PM in a group of 32 left hemisphere stroke patients and 18 healthy, age-matched controls. Two expert clinicians rated severity of AOS, dysarthria and nonverbal oral apraxia of the patients. Fifteen individuals were categorized as AOS and 17 were AOS-absent. Comparison of connectivity in patients with and without AOS demonstrated that AOS patients had reduced connectivity between bilateral PM, and this reduction correlated with the severity of AOS impairment. In addition, AOS patients had negative connectivity between the left PM and right aINS and this effect decreased with increasing severity of non-verbal oral apraxia. These results highlight left PM involvement in AOS, begin to differentiate its neural mechanisms from those of other motor impairments following stroke, and help inform us of the neural mechanisms driving differences in speech motor planning and programming impairment following stroke.

  14. Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.

    Science.gov (United States)

    Kaji, Seiji; Kawarai, Toshitaka; Miyamoto, Ryosuke; Nodera, Hiroyuki; Pedace, Lucia; Orlacchio, Antonio; Izumi, Yuishin; Takahashi, Ryosuke; Kaji, Ryuji

    2016-05-15

    Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS). Genetic analysis revealed a heterozygous variant in KIF5A (c.484C>T, p.Arg162Trp) in 2 symptomatic members. The mutation was also identified in 4 asymptomatic members, including 2 elderly members aged over 78years. Electromyography in the 2 symptomatic members revealed evidence of lower motor neuron involvement and fasciculation potentials in distal muscles. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. Given that our cases showed pseudobulbar palsy, fasciculation and altered penetrance, KIF5A-SPG10 might well be considered as a differential diagnosis of sporadic ALS. Copyright © 2016 Elsevier B.V. All rights reserved.

  15. Dysgraphia in Patients with Primary Lateral Sclerosis: A Speech-Based Rehearsal Deficit?

    Science.gov (United States)

    Zago, S.; Poletti, B.; Corbo, M.; Adobbati, L.; Silani, V.

    2008-01-01

    The present study aims to demonstrate that errors when writing are more common than expected in patients affected by primary lateral sclerosis (PLS) with severe dysarthria or complete mutism, independent of spasticity. Sixteen patients meeting Pringle’s et al. [34] criteria for PLS underwent standard neuropsychological tasks and evaluation of writing. We assessed writing abilities in spelling through dictation in which a set of words, non-words and short phrases were presented orally and by composing words using a set of preformed letters. Finally, a written copying task was performed with the same words. Relative to controls, PLS patients made a greater number of spelling errors in all writing conditions, but not in copy task. The error types included: omissions, transpositions, insertions and letter substitutions. These were equally distributed on the writing task and the composition of words with a set of preformed letters. This pattern of performance is consistent with a spelling impairment. The results are consistent with the concept that written production is critically dependent on the subvocal articulatory mechanism of rehearsal, perhaps at the level of retaining the sequence of graphemes in a graphemic buffer. In PLS patients a disturbance in rehearsal opportunity may affect the correct sequencing/assembly of an orthographic representation in the written process. PMID:19096141

  16. Bilateral Medial Medullary Stroke: A Challenge in Early Diagnosis

    Directory of Open Access Journals (Sweden)

    Amir M. Torabi

    2013-01-01

    Full Text Available Bilateral medial medullary stroke is a very rare type of stroke, with catastrophic consequences. Early diagnosis is crucial. Here, I present a young patient with acute vertigo, progressive generalized weakness, dysarthria, and respiratory failure, who initially was misdiagnosed with acute vestibular syndrome. Initial brain magnetic resonance imaging (MRI that was done in the acute phase was read as normal. Other possibilities were excluded by lumbar puncture and MRI of cervical spine. MR of C-spine showed lesion at medial medulla; therefore a second MRI of brain was requested, showed characteristic “heart appearance” shape at diffusion weighted (DWI, and confirmed bilateral medial medullary stroke. Retrospectively, a vague-defined hyperintense linear DWI signal at midline was noted in the first brain MRI. Because of the symmetric and midline pattern of this abnormal signal and similarity to an artifact, some radiologists or neurologists may miss this type of stroke. Radiologists and neurologists must recognize clinical and MRI findings of this rare type of stroke, which early treatment could make a difference in patient outcome. The abnormal DWI signal in early stages of this type of stroke may not be a typical “heart appearance” shape, and other variants such as small dot or linear DWI signal at midline must be recognized as early signs of stroke. Also, MRI of cervical spine may be helpful if there is attention to brainstem as well.

  17. Excessive blinking and ataxia in a child with occult neuroblastoma and voltage-gated potassium channel antibodies.

    LENUS (Irish Health Repository)

    Allen, Nicholas M

    2012-05-01

    A previously healthy 9-year-old girl presented with a 10-day history of slowly progressive unsteadiness, slurred speech, and behavior change. On examination there was cerebellar ataxia and dysarthria, excessive blinking, subtle perioral myoclonus, and labile mood. The finding of oligoclonal bands in the cerebrospinal fluid prompted paraneoplastic serological evaluation and search for an occult neural crest tumor. Antineuronal nuclear autoantibody type 1 (anti-Hu) and voltage-gated potassium channel complex antibodies were detected in serum. Metaiodobenzylguanidine scan and computed tomography scan of the abdomen showed a localized abdominal mass in the region of the porta hepatis. A diagnosis of occult neuroblastoma was made. Resection of the stage 1 neuroblastoma and treatment with pulsed corticosteroids resulted in resolution of all symptoms and signs. Excessive blinking has rarely been described with neuroblastoma, and, when it is not an isolated finding, it may be a useful clue to this paraneoplastic syndrome. Although voltage-gated potassium channel complex autoimmunity has not been described previously in the setting of neuroblastoma, it is associated with a spectrum of paraneoplastic neurologic manifestations in adults, including peripheral nerve hyperexcitability disorders.

  18. Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model

    Directory of Open Access Journals (Sweden)

    Ariadna Bargiela

    2015-07-01

    Full Text Available Muscle mass wasting is one of the most debilitating symptoms of myotonic dystrophy type 1 (DM1 disease, ultimately leading to immobility, respiratory defects, dysarthria, dysphagia and death in advanced stages of the disease. In order to study the molecular mechanisms leading to the degenerative loss of adult muscle tissue in DM1, we generated an inducible Drosophila model of expanded CTG trinucleotide repeat toxicity that resembles an adult-onset form of the disease. Heat-shock induced expression of 480 CUG repeats in adult flies resulted in a reduction in the area of the indirect flight muscles. In these model flies, reduction of muscle area was concomitant with increased apoptosis and autophagy. Inhibition of apoptosis or autophagy mediated by the overexpression of DIAP1, mTOR (also known as Tor or muscleblind, or by RNA interference (RNAi-mediated silencing of autophagy regulatory genes, achieved a rescue of the muscle-loss phenotype. In fact, mTOR overexpression rescued muscle size to a size comparable to that in control flies. These results were validated in skeletal muscle biopsies from DM1 patients in which we found downregulated autophagy and apoptosis repressor genes, and also in DM1 myoblasts where we found increased autophagy. These findings provide new insights into the signaling pathways involved in DM1 disease pathogenesis.

  19. Acute cerebellar dysfunction with neuromuscular manifestations after scorpionism presumably caused by Tityus obscurus in Santarém, Pará / Brazil.

    Science.gov (United States)

    Torrez, Pasesa P Q; Quiroga, Mariana M M; Abati, Paulo A M; Mascheretti, Melissa; Costa, Walter Silva; Campos, Luciana P; França, Francisco O S

    2015-03-01

    Scorpionism is a public health problem in many tropical countries, especially in North Africa, South India, Latin America and the Middle East. In Brazil, patients with severe scorpion envenoming have mainly cardiovascular events, including acute heart failure, acute respiratory distress syndrome and shock, death is rare. We described 58 accidents presumably caused by Tityus obscurus in Brazilian Amazonia. Patients reported a sensation of "electric shocks" which could last hours. The vast majority of patients presented a clinical picture compatible with acute cerebellar dysfunction, beginning minutes and lasting up to 2 days after the accident. They presented cerebellar ataxia, dysdiadochokinesia, dysmetry, dysarthria, dyslalia, nausea and vomiting. Besides, some patients presented myoclonus and fasciculation which can also be attributed to cerebellar dysfunction or maybe the result of direct action on skeletal muscle. Two patients had evidence of intense rhabdomyolysis and acute kidney injury. The clinical picture in this scorpion envenoming is mainly characterized by an acute dysfunction of cerebellar activities and abnormal neuromuscular manifestations and in some cases muscle injury which are not described in any other region of the world. This work presents clinical, epidemiologic, laboratory and treatment aspects of this unmatched scorpion envenoming in the state of Pará, northern Brazil. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. Polyneuritis cranialis with generalized hyperreflexia as a presenting manifestation of thyrotoxicosis

    Directory of Open Access Journals (Sweden)

    Gaurav M Kasundra

    2015-01-01

    Full Text Available A 22-year-old male student with no past medical illness, presented with acute onset dysarthria, binocular diplopia, and dysphagia over 10 hours. On examination, he had tachycardia, hypertension, generalized hyper-reflexia, and bilateral pupil sparing oculomotor, troclear, abducens, trigeminal, facial, glossopharyngeal, and vagus nerve palsy. Rest examination was unremarkable. Facial nerve conduction study (NCS showed decreased amplitude bilaterally and neurogenic pattern on electromyography. Limb NCS, repetitive nerve stimulation, neostigmine test, brain magnetic resonance imaging, cerebrospinal fluid, and biochemical tests were normal. Only positive tests were low thyroid-stimulating hormone (TSH (<0.01, high free T3 (19.2 pmol/L, and high free T4 (39.2 pmol/L. Thyroid ultrasonography, anti-thyroid peroxidase, and anti-thyroglobulin antibody were normal. Patient was treated with anti-thyroid drugs, with which he completely recovered in 2 months. Though many cases with thyrotoxic myopathy have been reported, only few mention neuropathic cause of dysphagia or polyneuritis cranialis. Getting done thyroid function tests may be helpful in patients with polyneuritis cranialis of uncertain etiology.

  1. Crosslinguistic Application of English-Centric Rhythm Descriptors in Motor Speech Disorders

    Science.gov (United States)

    Liss, Julie M.; Utianski, Rene; Lansford, Kaitlin

    2014-01-01

    Background Rhythmic disturbances are a hallmark of motor speech disorders, in which the motor control deficits interfere with the outward flow of speech and by extension speech understanding. As the functions of rhythm are language-specific, breakdowns in rhythm should have language-specific consequences for communication. Objective The goals of this paper are to (i) provide a review of the cognitive- linguistic role of rhythm in speech perception in a general sense and crosslinguistically; (ii) present new results of lexical segmentation challenges posed by different types of dysarthria in American English, and (iii) offer a framework for crosslinguistic considerations for speech rhythm disturbances in the diagnosis and treatment of communication disorders associated with motor speech disorders. Summary This review presents theoretical and empirical reasons for considering speech rhythm as a critical component of communication deficits in motor speech disorders, and addresses the need for crosslinguistic research to explore language-universal versus language-specific aspects of motor speech disorders. PMID:24157596

  2. Speech disorders in olivopontocerebellar atrophy correlate with positron emission tomography findings

    International Nuclear Information System (INIS)

    Kluin, K.J.; Gilman, S.; Markel, D.S.; Koeppe, R.A.; Rosenthal, G.; Junck, L.

    1988-01-01

    We compared the severity of ataxic and spastic dysarthria with local cerebral metabolic rates for glucose (lCMRGlc) in 30 patients with olivopontocerebellar atrophy (OPCA). Perceptual analysis was used to examine the speech disorders, and rating scales were devised to quantitate the degree of ataxia and spasticity in the speech of each patient. lCMRGlc was measured with 18 F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET). PET studies revealed marked hypometabolism in the cerebellar hemispheres, cerebellar vermis, and brainstem of OPCA patients compared with 30 control subjects. With data normalized to the cerebral cortex, a significant inverse correlation was found between the severity of ataxia in speech and the lCMRGlc within the cerebellar vermis, cerebellar hemispheres, and brainstem, but not within the thalamus. No significant correlation was found between the severity of spasticity in speech and lCMRGlc in any of these structures. The findings support the view that the severity of ataxia in speech in OPCA is related to the functional activity of the cerebellum and its connections in the brainstem

  3. A Rare Case of Cerebellar Ataxia Due to Voltage-Gated Calcium Channel and Glutamic Acid Decarboxylase Autoantibodies.

    Science.gov (United States)

    Annunziata, Giuseppe; Lobo, Pamela; Carbuccia, Cristian

    2017-11-27

    BACKGROUND Autoimmune cerebellar ataxia can be paraneoplastic in nature or can occasionally present without evidence of an ongoing malignancy. The detection of specific autoantibodies has been statistically linked to different etiologies. CASE REPORT A 55-year-old African-American woman with hypertension and a past history of morbid obesity and uncontrolled diabetes status post gastric bypass four years prior to the visit (with significantly improved body mass index and hemoglobin A1c controlled at the time of the clinical encounter) presented to the office complaining of gradual onset of unsteadiness and recurrent falls for the past three years, as well as difficulties coordinating routine daily activities. The neurologic exam showed moderate dysarthria and ataxic gait with bilateral dysmetria and positive Romberg test. Routine laboratory test results were only remarkable for a mild elevation of erythrocyte sedimentation rate, and most laboratory and imaging tests for common causes of ataxia failed to demonstrate an etiology. Upon further workup, evidence of anti-voltage-gated calcium channel and anti-glutamic acid decarboxylase antibody was demonstrated. She was then treated with intravenous immunoglobulins with remarkable clinical improvement. CONCLUSIONS We present a case of antibody-mediated ataxia not associated with malignancy. While ataxia is rarely related to autoantibodies, in such cases it is critical to understand the etiology of this disabling condition in order to treat it correctly. Clinicians should be aware of the possible association with specific autoantibodies and the necessity to rule out an occult malignancy in such cases.

  4. Paraneoplastic cerebellar degeneration and lambert-eaton myasthenia in a patient with merkel cell carcinoma and voltage-gated calcium channel antibodies.

    Science.gov (United States)

    Pavolucci, Lucia; Giannini, Giulia; Giannoccaro, Maria Pia; Foschini, Maria Pia; Lang, Bethan; Avoni, Patrizia; Tinuper, Paolo; Vincent, Angela; Liguori, Rocco

    2017-11-01

    Merkel cell carcinoma is a rare cutaneous, aggressive tumor. Although it shares many neuroendocrine features with small cell lung carcinoma, it has only occasionally been reported with paraneoplastic neurological syndromes. A healthy 67-year-old man developed acute ataxia, vertigo, and nausea. Subsequently he also developed dysarthria, diplopia, xerostomia, fatigability and progressive anorexia. He underwent a full diagnostic workup and was found to have a high titer of voltage-gated calcium channel antibodies in serum and cerebrospinal fluid, neurophysiological findings compatible with Lambert-Eaton myasthenia and neurological signs compatible with cerebellar degeneration. A positron emission tomography study revealed a hypermetabolic lesion in the axilla, subsequently biopsied and consistent with Merkel cell carcinoma. In most previous reports, neurological symptoms preceded the Merkel cell carcinoma diagnosis, and the primary localization was in lymph nodes. This tumor should be considered in patients with paraneoplastic syndrome, and particularly Lambert-Eaton myasthenia after exclusion of small cell lung carcinoma. Muscle Nerve 56: 998-1000, 2017. © 2016 Wiley Periodicals, Inc.

  5. A case of traumatic MLF syndrome with a CT demonstration of a small hemorrhagic legion

    International Nuclear Information System (INIS)

    Ban, Sadahiko; Ogata, Masahiro; Miyamoto, Takeshi; Tabuchi, Tetsu

    1981-01-01

    We report a case who developed internuclear ophthalmoplegia as a result of a closed head injury. A CT scan (Delta scan 50 FSII) demonstrated a small hemorrhage (9 x 12 mm. on actual measurement) in the dorsum of the upper pons. The patient is a 40-year-old male who fell backward while chasing a fly ball, striking the back of the head. He was rendered unconcious for some ten minutes. Upon admission, mild impairment of the adduction of both eye-balls was noted; 10 hours later this became more obvious, along with cerebellar ataxia, mild dysarthria, and paresthesia of the face. A CT scan obtained immediately after admission revealed an area of increased density compatible with a hemorrhage in the dorsum of the upper pons. A follow-up CT scan on the 12th hospital day revealed a complete resolution of the initially noted high-density in the upper pons, and 2 weeks following admission, the above-noted signs started to improve. Two and a half months following the injury he returned to work as a printer, although a detailed neuro-otological examination done 29 months after the injury still demonstrated evidence of bilateral internuclear ophthalmoplegia. To the author's knowledge, only 13 cases of traumatic 'MLF syndrome' have been reported so far, and our case is the first in which a CT scan indeed demonstrated the lesion. The details of the case are presented, along with the results of the neuro-otological evaluation. (author)

  6. Self-perception versus professional assessment of functional outcome after ablative surgery in patients with oral cancer.

    Science.gov (United States)

    Beck-Broichsitter, Benedicta E; Huck, Jörn; Küchler, Thomas; Hauke, Daniela; Hedderich, Jürgen; Wiltfang, Jörg; Becker, Stephan T

    2017-02-01

    The extent of functional impairment after ablative surgery in the orofacial region may be directly reflected in a reduction in Quality of Life. This study intended to compare the patients' perception with an objective functional evaluation of the orofacial system in order to bilaterally distinguish direct influence factors. A total of 45 patients were included in this study and were asked to complete the European Organisation for Research and Treatment of Cancer Core Questionnaire (EORTC QLQ-30) and the Head and Neck 35 Module (H&N 35). Afterward one independent speech therapist evaluated the patients applying the Frenchay Dysarthria Assessment regarding four main categories: mouth opening, tongue motility, swallowing and intelligibility. Comparisons between groups were performed using Whitney-Mann U-Wilcoxon test and calculating Spearman's rho. Overall the professional assessments by the speech therapists revealed significantly higher scores regarding intelligibility, swallowing and mouth opening when compared to the patients' self-perception. Smaller tumor sizes, no bone resection and local reconstruction techniques led to significantly better functional outcomes, when assessed by speech therapists. Swallowing was perceived significantly better by patients in cases of local reconstruction. From the professionals' point of view differences were perceived in more items compared to the patients' self-assessments, who widely experienced a more severe functional impairment. Physicians should take this into account when discussing adverse therapy effects with the patients.

  7. Unilateral Hypoglossal Nerve Palsy after Use of the Laryngeal Mask Airway Supreme

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    Kenichi Takahoko

    2014-01-01

    Full Text Available Purpose. Hypoglossal nerve palsy after use of the laryngeal mask airway (LMA is an exceptionally rare complication. We present the first case of unilateral hypoglossal nerve palsy after use of the LMA Supreme. Clinical Features. A healthy 67-year-old female was scheduled for a hallux valgus correction under general anesthesia combined with femoral and sciatic nerve blocks. A size 4 LMA Supreme was inserted successfully at the first attempt and the cuff was inflated with air at an intracuff pressure of 60 cmH2O using cuff pressure gauge. Anesthesia was maintained with oxygen, nitrous oxide (67%, and sevoflurane under spontaneous breathing. The surgery was uneventful and the duration of anesthesia was two hours. The LMA was removed as the patient woke and there were no immediate postoperative complications. The next morning, the patient complained of dysarthria and dysphasia. These symptoms were considered to be caused by the LMA compressing the nerve against the hyoid bone. Conservative treatment was chosen and the paralysis recovered completely after 5 months. Conclusion. Hypoglossal nerve injury may occur despite correct positioning of the LMA under the appropriate intracuff pressure. A follow-up period of at least 6 months should be taken into account for the recovery.

  8. Central pontine myelinolysis in a chronic alcoholic: A clinical and brain magnetic resonance imaging follow-up

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    Dujmović Irena

    2013-01-01

    Full Text Available Introduction. Central pontine myelinolysis (CPM is a noninflammatory, demyelinating lesion usually localised in the basis pontis. Chronic alcoholism is frequently associated with this condition which may have a variable clinical outcome. Until now, brain magnetic resonance imaging (MRI follow-up in alcoholic CPM cases after alcohol withdrawal has been rarely described. Case report. We reported a 30- year-old male with a 12-year history of alcohol abuse, who presented with inability to stand and walk, nausea, vomiting and somnolence. Neurological examination revealed: impared fixation on lateral gaze, dysarthria, mild spastic quadriparesis, truncal and extremity ataxia, sock-like hypesthesia and moderate decrease in vibration sense in legs. Brain MRI showed a trident-shaped non-enhancing pontine lesion highly suggestive of CPM. After an eight-month alcoholfree follow-up period, the patient’s clinical status significantly improved, while the extent of MRI pontine lesion was merely slightly reduced. Conclusion. The presented case demonstrates that CPM in chronic alcoholics may have a benign clinical course after alcohol withdrawal, which is not necessarily associated with the reduction of lesions on brain MRI. [Projekat Ministarstva nauke Republike Srbije, br. 175031

  9. Central pontine myelinolysis (CPM) associated with tacrolimus (FK506) after liver transplantation.

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    Fukazawa, Kyota; Nishida, Seigo; Aguina, Luz; Pretto, Ernesto

    2011-01-01

    Central pontine myelinolysis (CPM) is the most detrimental neurologic complication after liver transplantation. The incidence of CPM after liver transplantation ascends to 17%. Although the precise etiology and pathogenesis of CPM is largely unknown, a growing literature implicates a possible role of immunosuppressive agents, such as Cyclosporine (incidence 30%) on its development. Other immunosuppressive agents also can cause CPM but the frequency of these cases is less compared to Cyclosporine. There is only one case report for Tacrolimus (FK506)-associated speech disorder, which might be an atypical presentation of CPM, and no case reports for Rapamycin. We present a case of Tacrolimus induced CPM. A 62-year-old woman who underwent liver transplantation developed clinical symptoms with radiologic evidence consistent with CPM 7 days after liver transplant. Since the electrolytes in this patient remained normal from her admission, the hypothesis of inmunossupressor neurotoxicity was established and the therapy was switched, resulting in an evident clinical and radiological improvement of her condition in the following days. Five months later, the patient's only neurological deficit was slight dysarthria and a follow-up MRI showed no abnormalities. This case provides evidence of Tacrolimus-associated CPM after transplantation, which presented with a classic "lock-in syndrome" with radiographic confirmation.

  10. The role of brain magnetic resonance imaging in the diagnosis of pantothenate kinase deficiency (previously Hallervorden-Spatz disease): case report

    International Nuclear Information System (INIS)

    Gizewska, M.; Bieleninik, A.; Adamczyk, T.; Walczak, M.; Cyrylowski, L.; Abramczyk, G.; Nowacki, P.

    2005-01-01

    Panthotenate kinase deficiency is a rare metabolic disorder from the group of neuroaxonal dystrophy. It is characterized by symptoms of extrapiramidal system impairment, general dystonia, progressive gait disturbances, limbs rigidity, dyskinesias, choreoatetotic movements, dysarthria and progressive dementia. On the brain MRI, T2 - weighted images demonstrate typical, symmetrical '' eye of the tiger '' sign with hyperintensive signals from the central parts of the pallidum, surrounded by low signals in the pallidum and accompanied by hypointensity in substantia nigra resulting from iron deposition. We present a case of 13.5 year old boy with gait disturbances, increase muscles tone, dysartria, aggressive behavior and learning difficulties progressing from the early childhood. In the differential diagnosis a number of inborn errors of metabolism was excluded. Finding on the brain MRI in T2- weighted images typical picture of '' eye of the tiger '' led to a diagnosis of panthotenate kinase deficiency. In subsequent years of observation, despite attempts of baclofen and calcium panthotenate treatment, progression of pyramidal-extrapyramidal syndrome is observed. In children with symptoms of progressive extrapyramidal tract impairment, a sign of '' eye of the tiger '' with hyperintensive signals from the central parts of the pallidum, surrounded by low signals in the remaining part of the pallidum and accompanied by similar lesions in substantia nigra is typical for panthotenate kinase deficiency - a rare neurodegenerative disorder of central nervous system. (author)

  11. Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome.

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    Díaz-Manera, Jordi; Rojas-García, Ricard; Gallardo, Eduard; Juárez, Cándido; Martínez-Domeño, Alejandro; Martínez-Ramírez, Sergi; Dalmau, Josep; Blesa, Rafael; Illa, Isabel

    2007-07-01

    A 46-year-old woman presented to a local hospital with acute respiratory failure and a 2-year progressive history of fatigue, personality changes, increased sweating, dysphagia with substantial weight loss, dysarthria, and intermittent ptosis and diplopia. Neurological examination showed facial weakness, lingual atrophy and bulbar palsy, which necessitated the use of a feeding tube and ventilatory support. Mild limb weakness with severe muscle atrophy and diffuse muscle twitches were observed. The patient had also developed visual hallucinations and persecutory delusions. Her personal and family medical histories were unremarkable. Sensory and motor nerve conduction studies, repetitive nerve stimulation, electromyogram, blood-cell counts, general chemistry and metabolic function tests, a CT scan, an [(18)F]fluorodeoxyglucose-PET scan, and tests for serum antibodies to acetylcholine receptors, muscle-specific tyrosine kinase, voltage-gated potassium channels, P/Q-type voltage-gated calcium channels, and paraneoplastic antigens, were carried out. Myasthenia gravis associated with antibodies to acetylcholine receptor and muscle-specific tyrosine kinase, and Morvan's syndrome associated with antibodies to voltage-gated potassium channels in the absence of thymoma. Combined treatment with prednisone, intravenous immunoglobulin, ciclosporin, and rituximab.

  12. Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.

    Science.gov (United States)

    Brunetti, Dario; Dusi, Sabrina; Morbin, Michela; Uggetti, Andrea; Moda, Fabio; D'Amato, Ilaria; Giordano, Carla; d'Amati, Giulia; Cozzi, Anna; Levi, Sonia; Hayflick, Susan; Tiranti, Valeria

    2012-12-15

    Neurodegeneration with brain iron accumulation (NBIA) comprises a group of neurodegenerative disorders characterized by high brain content of iron and presence of axonal spheroids. Mutations in the PANK2 gene, which encodes pantothenate kinase 2, underlie an autosomal recessive inborn error of coenzyme A metabolism, called pantothenate kinase-associated neurodegeneration (PKAN). PKAN is characterized by dystonia, dysarthria, rigidity and pigmentary retinal degeneration. The pathogenesis of this disorder is poorly understood and, although PANK2 is a mitochondrial protein, perturbations in mitochondrial bioenergetics have not been reported. A knock-out (KO) mouse model of PKAN exhibits retinal degeneration and azoospermia, but lacks any neurological phenotype. The absence of a clinical phenotype has partially been explained by the different cellular localization of the human and murine PANK2 proteins. Here we demonstrate that the mouse Pank2 protein localizes to mitochondria, similar to its human orthologue. Moreover, we show that Pank2-defective neurons derived from KO mice have an altered mitochondrial membrane potential, a defect further corroborated by the observations of swollen mitochondria at the ultra-structural level and by the presence of defective respiration.

  13. Cauda Equina Syndrome Secondary to Leptomeningeal Carcinomatosis of Gastroesophageal Junction Cancer

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    Amal Alkhotani

    2016-04-01

    Full Text Available Leptomeningeal carcinomatosis (LMC is a diffuse or multifocal malignant infiltration of the pia matter and arachnoid membrane. The most commonly reported cancers associated with LMC are breast, lung, and hematological malignancies. Patients with LMC commonly present with multifocal neurological symptoms. We report a case of LMC secondary to gastroesophageal junction cancer present initially with cauda equina syndrome. A 51-year-old male patient with treated adenocarcinoma of the gastroesophageal junction presented with left leg pain, mild weakness, and saddle area numbness. Initial radiological examinations were unremarkable. Subsequently, he had worsening of his leg weakness, fecal incontinence, and urine retention. Two days later, he developed rapidly progressive cranial neuropathies including facial diplegia, sensorineural hearing loss, dysarthria, and dysphagia. MRI with and without contrast showed diffuse enhancement of leptomeninges surrounding the brain, spinal cord, and cauda equina extending to the nerve roots. Cerebrospinal fluid cytology was positive for malignant cells. The patient died within 10 days from the second presentation. In cancer patients with cauda equina syndrome and absence of structural lesion on imaging, LMC should be considered. To our knowledge, this is the first case of LMC secondary to gastroesophageal cancer presenting with cauda equina syndrome.

  14. TUMOURS OF PARAPHARYNGEAL SPACE WITHOUT OROPHARYNGEAL SWELLING: A SERIES OF TWO CASES

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    Kashyap

    2016-01-01

    Full Text Available The parapharyngeal space is a complex anatomical area. Tumors located in the parapharyngeal space are relatively rare and account for 0.5% of all the head and neck tumors. Pleomorphic adenoma is the most common parapharyngeal space tumor. The clinical features are slow growing swelling of parotid and upper cervical region, bulging on lateral oropharyngeal wall, dysphagia, u/l Eustachian tube dysfunction, pain, trismus, and obstructive sleep apnoea. The pre-styloid tumours displace the lateral pharyngeal wall medially, parotid gland laterally and carotid artery laterally while maintain the fat plane with deep lobe of parotid gland. Post-styloid tumour displace the carotid artery medially and anteriorly with obliteration of fat plane around the vessels and pre-styloid fat anterolaterally. We report a series of two cases of pleomorphic adenoma, involving the prestyloid parapharyngeal space, and in continuity with the deep lobe of the parotid gland. However no medial bulge was seen on lateral oropharyngeal wall. Complete excision of the lesion was performed using the cervical-transparotid approach preserving the facial nerve. Main aim of our study is to emphasize that the parapharyngeal tumors are not always presented with oropharyngeal symptoms like lateral pharyngeal wall bulge, dysphagia, dysarthria and trismus.

  15. Brainstem ischemic stroke without permanent sequelae during the course of spontaneous internal carotid artery dissection – case report

    International Nuclear Information System (INIS)

    Nesteruk, Tomasz; Nesteruk, Marta; Bulik-Pasińska, Marta; Boroszko, Dariusz; Ostrowska, Monika

    2012-01-01

    Internal carotid artery dissection (ICAD) is a frequent cause of a stroke in young patients. Risk factors which can lead to dissection include neck injury and diseases of the inner wall of the artery. Common symptoms in ICAD are cervical pain and headache, Horner’s syndrome, paralysis of the cranial nerves and subsequently cerebral and retinal ischemia. MR angiography in TOF technique and brain MRI in T1- and T2-weighted images, FLAIR and DWI sequences are the method of choice in patients with ICAD but contrast-enhanced multislice computed tomography remains the fastest and the most available diagnostic method. A 39-year old woman, previously healthy, presented to the Hospital Emergency Department because of increasing neck pain on the right side and difficulty in swallowing. The neurological examination revealed: drooping of the right eyelid with narrow palpebral fissure, dysarthria, anisocoria (narrower pupil on the right side), unilateral hypoesthesia on the left side, weak palatal and pharyngeal reflexes on both sides, paresthesia within the left half of the body. Seven days before, the patient felt a sudden, severe neck pain radiating to the temporal apophysis. CT angiography revealed a defect in contrast filling within the left internal carotid artery and right vertebral artery. MRI of the head with MR angiography showed internal carotid artery dissection on the left side and dissection of the right vertebral artery and no ischemic changes within the brain. CT and MR angiography are methods characterized by high sensitivity in detecting dissection of the cervical arteries

  16. Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed Espectro clínico da ataxia cerebelar de início precoce com reflexos mantidos: uma ataxia autossômica recessiva para não ser esquecida

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    José Luiz Pedroso

    2013-06-01

    Full Text Available Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.As ataxias cerebelares autossômicas recessivas são um grupo heterogêneo de doenças neurológicas. Em 1981, foi descrita uma entidade neurológica incluindo ataxia cerebelar progressiva de início precoce, disartria, liberação piramidal e manutenção ou aumento dos reflexos tendíneos nos membros superiores e inferiores. Essa síndrome é conhecida como ataxia cerebelar de início precoce com reflexos mantidos. Neste artigo, o objetivo foi chamar a atenção para o diagnóstico de ataxia cerebelar de início precoce com reflexos mantidos como a segunda causa mais comum de ataxia cerebelar autossômica recessiva, após a ataxia de Friedreich, e também realizar um estudo do espectro cl

  17. A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study.

    Science.gov (United States)

    Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis; Lewerenz, Jan; Torres-Vega, Estefanía; Contreras, Angeles; Giometto, Bruno; Compta, Yaroslau; Embid, Cristina; Vilaseca, Isabel; Iranzo, Alex; Santamaría, Joan; Dalmau, Josep; Graus, Francesc

    2014-06-01

    Autoimmunity might be associated with or implicated in sleep and neurodegenerative disorders. We aimed to describe the features of a novel neurological syndrome associated with prominent sleep dysfunction and antibodies to a neuronal antigen. In this observational study, we used clinical and video polysomnography to identify a novel sleep disorder in three patients referred to the Sleep Unit of Hospital Clinic, University of Barcelona, Spain, for abnormal sleep behaviours and obstructive sleep apnoea. These patients had antibodies against a neuronal surface antigen, which were also present in five additional patients referred to our laboratory for antibody studies. These five patients had been assessed with polysomnography, which was done in our sleep unit in one patient and the recording reviewed in a second patient. Two patients underwent post-mortem brain examination. Immunoprecipitation and mass spectrometry were used to characterise the antigen and develop an assay for antibody testing. Serum or CSF from 298 patients with neurodegenerative, sleep, or autoimmune disorders served as control samples. All eight patients (five women; median age at disease onset 59 years [range 52-76]) had abnormal sleep movements and behaviours and obstructive sleep apnoea, as confirmed by polysomnography. Six patients had chronic progression with a median duration from symptom onset to death or last visit of 5 years (range 2-12); in four the sleep disorder was the initial and most prominent feature, and in two it was preceded by gait instability followed by dysarthria, dysphagia, ataxia, or chorea. Two patients had a rapid progression with disequilibrium, dysarthria, dysphagia, and central hypoventilation, and died 2 months and 6 months, respectively, after symptom onset. In five of five patients, video polysomnography showed features of obstructive sleep apnoea, stridor, and abnormal sleep architecture (undifferentiated non-rapid-eye-movement [non-REM] sleep or poorly structured

  18. Clinical case of the month. A 29-year-old man with acute onset blurry vision, weakness, and gait abnormality. Stroke.

    Science.gov (United States)

    Thoppil, Deepu; Ali, Murtuza J; Jain, Neeraj; Kamboj, Sanjay; Subramaniam, Pramilla; Lopez, Fred A

    2009-01-01

    A 29-year-old man, with no significant past medical history, was in his usual state of health until the afternoon of admission. The patient was seated at work eating lunch when he suddenly noticed that his vision became blurry. He covered his right eye and had no visual difficulty but noted blurry vision upon covering his left eye. At this point, the patient tried to stand up, but had difficulty walking and noticed he was "falling toward his left." Facial asymmetry when smiling was also appreciated. The patient denied any alteration in mental status, confusion, antecedent or current headaches, aura, chest pains, or shortness of breath. He was not taking any prescribed medications and had no known allergies. The patient denied any prior hospitalization or surgery. He denied use of tobacco, alcohol, or illicit drugs, and worked as a maintenance worker in a hotel. His family history is remarkable for his father who died of pancreatic cancer in his 50s and his mother who died of an unknown heart condition in her late 40s. Vital signs on presentation to the emergency department included temperature of 97.6 degrees F; respiratory rate of 18 per minute; pulse of 68 per minute; blood pressure of 124/84 mmHg; pulse oximetry of 99% on ambient air. His body mass index was 24 and he was complaining of no pain. The patient had no carotid bruits and no significant jugular venous distention. Cardiovascular exam revealed a regular rate and rhythm with no murmurs. Neurological exam revealed left-sided facial weakness, dysarthria, and preserved visual fields. He was able to furrow his brow. Gait deviation to the left was present, and Romberg sign was negative. Deep tendon reflexes were 2+ throughout, and no other focal neurological deficit was present. The patient was admitted to the hospital with a diagnosis of stroke. Electrocardiogram, fasting lipid profile, computed tomography (CT) scan of head, magnetic resonance imaging (MRI) of head and neck, and transthoracic echo with

  19. Clinical Predictors of Hospital-acquired Pneumonia Associated with Acute Ischemic

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    Alexis Suárez Quesada

    2015-06-01

    Full Text Available Background: hospital-acquired pneumonia is a constant challenge given the current microbiological spectrum, antimicrobial resistance together with its high mortality, morbidity and hospital costs. Objective: to identify the clinical predictors of pneumonia associated with acute ischemic stroke. Methods: a prospective cohort study was conducted in 201 patients diagnosed with acute ischemic stroke consecutively admitted to the stroke unit of the General Carlos Manuel de Céspedes Teaching Hospital during the first seven days after the onset, from January 2012 through December 2013. The independent predictors of hospital-acquired pneumonia were obtained using multivariable logistic regression. Results: fifty six point seven percent were male. The mean age was 64.17 ± 14.33 years. Cases of hospital-acquired pneumonia associated with stroke accounted for 19, 9 %. Subjects who developed pneumonia were older (68.55 ± 13.51 vs. 63.08 ± 14.36 years, had a lower score in the Glasgow Coma Scale (8.00 ± 2.60 vs. 14.00 ± 2.82, and an increased number of leukocytes at admission (10.888 ± 3.487 vs. 9.233 ± 2.539 × 109/L. The following independent factors were identified: Glasgow Coma Scale ≤ 11 (OR: 26.099; 95 % CI 7.164-85.075, history of chronic obstructive pulmonary disease (OR: 8.896; 95 % CI 1.203-65.779, dysphagia (OR: 7.652; 95 % CI 2.369- 24.720, history of heart failure (OR: 4.583; 95 % CI 1.240- 16.932 and dysarthria/severe motor aphasia (OR: 4.222; 95 % CI 1.374- 12.975. Conclusions: the resulting logistic regression model is valid for predicting post-stroke pneumonia based on data routinely acquired.

  20. Degenerative cerebellar diseases and differential diagnoses; Degenerative Kleinhirnerkrankungen und Differenzialdiagnosen

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    Reith, W.; Roumia, S.; Dietrich, P. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany)

    2016-11-15

    Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia. In addition to magnetic resonance imaging (MRI), nuclear medicine imaging investigations are also helpful for the differentiation. Axial fluid-attenuated inversion recovery (FLAIR) and T2-weighted sequences can sometimes show a signal increase in the pons as a sign of degeneration of pontine neurons and transverse fibers in the basilar part of the pons. The imaging is particularly necessary to exclude other diseases, such as normal pressure hydrocephalus (NPH), multi-infarct dementia and cerebellar lesions. (orig.) [German] Klinisch imponieren Kleinhirnsyndrome durch Ataxie, Dysarthrie, Dysmetrie, Intentionstremor und Augenbewegungsstoerungen. Neben der Anamnese und klinischen Untersuchung ist die Bildgebung v. a. wichtig um andere Erkrankungen wie Hydrozephalus und Multiinfarktdemenz von degenerativen Kleinhirnerkrankungen zu differenzieren. Zu den degenerativen Erkrankungen mit Kleinhirnbeteiligung gehoeren der Morbus Parkinson, die Multisystematrophie sowie weitere Erkrankungen einschliesslich der spinozerebellaeren Ataxien. Neben der MRT sind auch nuklearmedizinische Untersuchungen zur Differenzierung hilfreich. Axiale Fluid-attenuated-inversion-recovery(FLAIR)- und T2-gewichtete Sequenzen koennen mitunter eine Signalsteigerung im Pons als Ausdruck einer Degeneration der pontinen Neuronen und transversalen Bahnen im Brueckenfuss zeigen. Die Bildgebung ist aber v. a. notwendig, um andere Erkrankungen wie Normaldruckhydrozephalus

  1. Descriptive study of 192 adults with speech and language disturbances

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    Letícia Lessa Mansur

    Full Text Available CONTEXT: Aphasia is a very disabling condition caused by neurological diseases. In Brazil, we have little data on the profile of aphasics treated in rehabilitation centers. OBJECTIVE: To present a descriptive study of 192 patients, providing a reference sample of speech and language disturbances among Brazilians. DESIGN: Retrospective study. SETTING: Speech Pathology Unit linked to the Neurology Division of the Hospital das Clínicas of the Faculdade de Medicina da Universidade de São Paulo. SAMPLE: All patients (192 referred to our Speech Pathology service from 1995 to 2000. PROCEDURES: We collected data relating to demographic variables, etiology, language evaluation (functional evaluation, Boston Diagnostic Aphasia Examination, Boston Naming and Token Test, and neuroimaging studies. MAIN MEASUREMENTS: The results obtained in language tests and the clinical and neuroimaging data were organized and classified. Seventy aphasics were chosen for constructing a profile. Fourteen subjects with left single-lobe dysfunction were analyzed in detail. Seventeen aphasics were compared with 17 normal subjects, all performing the Token Test. RESULTS: One hundred subjects (52% were men and 92 (48% women. Their education varied from 0 to 16 years (average: 6.5; standard deviation: 4.53. We identified the lesion sites in 104 patients: 89% in the left hemisphere and 58% due to stroke. The incidence of aphasia was 70%; dysarthria and apraxia, 6%; functional alterations in communication, 17%; and 7% were normal. Statistically significant differences appeared when comparing the subgroup to controls in the Token Test. CONCLUSIONS: We believe that this sample contributes to a better understanding of neurological patients with speech and language disturbances and may be useful as a reference for health professionals involved in the rehabilitation of such disorders.

  2. [Cerebral infarction and intracranial aneurysm related to the reactivation of varicella zoster virus in a Japanese acquired immunodeficiency syndrome (AIDS) patient].

    Science.gov (United States)

    Yasuda, Chiharu; Okada, Kazumasa; Ohnari, Norihiro; Akamatsu, Naoki; Tsuji, Sadatoshi

    2013-01-01

    A 35-years-old right-handed man admitted to our hospital with a worsening of dysarthria, left facial palsy and left hemiparesis for 2 days. Acquired immunodeficiency syndrome (AIDS) was diagnosed when he was 28 years old. At that time, he also was treated for syphilis. After highly active antiretroviral treatment (HAART) was introduced at the age of 35 years old, serum level of human immunodeficiency virus (HIV) was not detected, but the number of CD4+ T cells was still less than 200/μl. He had no risk factors of atherosclerosis including hypertension, diabetes and hyperlipidemia. He had neither coagulation abnormality nor autoimmune disease. Magnetic resonance imaging (MRI) showed acute ischemic infarction spreading from the right corona radiate to the right internal capsule without contrast enhancement. Stenosis and occlusion of intracranial arteries were not detected by MR angiography. Although argatroban and edaravone were administered, his neurological deficits were worsened to be difficult to walk independently. Cerebrospinal fluid (CSF) examination showed a mild mononuclear pleocytosis (16/μl). Oligoclonal band was positive. The titer of anti-varicella zoster virus (VZV) IgG antibodies was increased, that indicated VZV reactivation in the central nervous system (CNS), although VZV DNA PCR was not detected. Therefore, acyclovir (750 mg/day for 2 weeks) and valaciclovir (3,000 mg/day for 1 month) were administered in addition to stroke therapy. He recovered to be able to walk independently 2 month after the admission.Angiography uncovered a saccular aneurysm of 3 mm at the end of branch artery of right anterior cerebral artery, Heubner artery, 28 days after the admission. We speculated that VZV vasculopathy caused by VZV reactivation in CNS was involved in the pathomechanism of cerebral infarction rather than HIV vasculopathy in the case.

  3. Lacunar strokes: a single institutional experience

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    Osama Shukir Muhammed Amin

    2013-08-01

    Full Text Available Abstract: Objective: Lacunar ischemic strokes comprise approximately 25% of all ischemic strokes. We compared the risk factors and clinical pattern of this type of stroke between males and females. Methods: This observational study involved 50 consecutive patients with their first-ever lacunar stroke and was conducted at the department of neurology of Sulaimaniya general teaching hospital, Iraq from December 1, 2010 to March 1, 2013. Patients’ risk factors, clinical presentation, and strokes’ patterns were noted and a comparison was made between males and females. Results: Males (64% outnumbered females (36% with a male to female ration of 1.7. The mean age of males was 63 years while it was 61 years in females. Although hypertension was more common in females than in males, diabetes and smoking were more common in the latter group; however, there were no statistically significant differences between the 2 genders in terms of hypertension (P-value <0.3 and diabetes (P-value < 0.07 while smoking was strongly associated with male gender (P-value<0.0001. Pure motor hemiparesis, ataxic hemiparesis, pure sensory stroke, and dysarthria-clumsy hand syndrome were more common in males; only senori-motor stroke revealed a statistically significant difference in favor males (P-value<0.0001; 95% CI -1.7 to 19.2. There was no statistically significant difference in terms of which side of the brain was infarcted between males and females (P-value<0.4. Conclusion: Males around the age of 63 years were the main target for these lacunar strokes. Cigarette smoking and sensorimotor strokes were significantly associated with male gender. [Cukurova Med J 2013; 38(4.000: 659-666

  4. Exploration of cervical carotid stenosis using helical CT angiography. A prospective trial on the detection of candidates for surgery in the Gujo area, Gifu

    Energy Technology Data Exchange (ETDEWEB)

    Yamakawa, Hiroyasu; Sumi, Yasuhiko [Sumi Hospital, Gifu (Japan); Kaku, Yasuhiko; Sakai, Noboru; Yamada, Hiromu

    1995-04-01

    To detect cervical carotid stenosis as a candidate for carotid endarterectomy (CEA), the authors attempted a prospective trial by exploring stenosis for one year in a rural district with a population of 20,000, employing helical CT angiography which apparently displayed three-dimensional reconstructed images of the carotid bifurcation. Thirty-three patients, 24 males and 9 females, with a mean age of 71.8 years, suffering from TIA, RIND or stroke were investigated for their carotid systems. The clinical symptoms of the patients were briefly as follows: motor weakness in 30 cases, dysarthria in 8 cases and aphasia in 4 cases; and 6 of 22 (27%) stroke cases had previously suffered an episode of TIA. The risk factors of the whole group of patients were hypertension in 13 cases, diabetes mellitus in 6, heart disease in 17, and hypercholesteremia in 4. Helical CT angiography was performed in 11 cases of TIA, 2 cases of RIND, and 16 cases of stroke. Only 3 cases of the TIA group and 3 cases of the stroke group were found to have extracranial carotid stenosis of more than 50%, which subsequently required conventional angiography. For the detection of stenosis, CT angiography was beneficial as well as conventional angiography. Finally, CEA was performed in 2 of 3 cases with severe carotid stonosis in the TIA group, while such cases in the stroke group were only observed. The above results meant that the occurrence of extracranial carotid stenosis was 6 out of 6,589 elderly inhabitants (over 60 years old), although the possible detection rate of candidates for CEA was 2 out of 20,000 population per year. (author).

  5. New graduates’ perceptions of preparedness to provide speech-language therapy services in general and dysphagia services in particular

    Science.gov (United States)

    Booth, Alannah; Choto, Fadziso; Gotlieb, Jessica; Robertson, Rebecca; Morris, Gabriella; Stockley, Nicola; Mauff, Katya

    2015-01-01

    Background Upon graduation, newly qualified speech-language therapists are expected to provide services independently. This study describes new graduates’ perceptions of their preparedness to provide services across the scope of the profession and explores associations between perceptions of dysphagia theory and clinical learning curricula with preparedness for adult and paediatric dysphagia service delivery. Methods New graduates of six South African universities were recruited to participate in a survey by completing an electronic questionnaire exploring their perceptions of the dysphagia curricula and their preparedness to practise across the scope of the profession of speech-language therapy. Results Eighty graduates participated in the study yielding a response rate of 63.49%. Participants perceived themselves to be well prepared in some areas (e.g. child language: 100%; articulation and phonology: 97.26%), but less prepared in other areas (e.g. adult dysphagia: 50.70%; paediatric dysarthria: 46.58%; paediatric dysphagia: 38.36%) and most unprepared to provide services requiring sign language (23.61%) and African languages (20.55%). There was a significant relationship between perceptions of adequate theory and clinical learning opportunities with assessment and management of dysphagia and perceptions of preparedness to provide dysphagia services. Conclusion There is a need for review of existing curricula and consideration of developing a standard speech-language therapy curriculum across universities, particularly in service provision to a multilingual population, and in both the theory and clinical learning of the assessment and management of adult and paediatric dysphagia, to better equip graduates for practice. PMID:26304217

  6. Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.

    Science.gov (United States)

    Upadhyay, Mamta; Agarwal, Saloni; Bhadauriya, Pratibha; Ganesh, Subramaniam

    2017-04-01

    Lafora disease (LD) is an autosomal recessive form of a fatal disorder characterized by the myoclonus epilepsy, ataxia, psychosis, dementia, and dysarthria. A hallmark of LD is the presence of abnormal glycogen inclusions called Lafora bodies in the affected tissues including the neurons. LD can be caused by defects either in the laforin phosphatase coded by the EPM2A gene or in the malin E3 ubiquitin ligase coded by the NHLRC1 gene. The mouse models of LD, created by the targeted disruption of the LD genes, display several neurodegenerative changes. Prominent among them are the autophagic defects, abnormally large lysosomes, neurofibrillary tangles, amyloid beta deposits, and abnormal mitochondria. However, whether or not such neurodegenerative changes are a direct effect of the loss of laforin/malin was not unequivocally established. Here, we show that laforin- or malin-deficient neurons and fibroblasts display a significantly higher number of fragmented mitochondria. Loss of laforin or malin resulted in increased levels of the mitochondrial fission GTPase Drp1, its enhanced mitochondrial targeting, and increased intracellular calcium levels. Intriguingly, laforin and malin display opposite effects on the cellular level of parkin, an ubiquitin ligase of Drp1; loss of laforin led to reduced levels of parkin while the loss of malin resulted in increased parkin levels. Laforin and malin, however, interact with and positively regulate the activity of parkin, thus explaining the molecular basis of increased Drp1 levels in LD tissues. Our results suggest that laforin and malin are novel regulators of mitochondrial quality control pathway and that the mitochondrial dysfunction resulting from the increased Drp1 levels could underlie neuropathology in LD. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. A case of megadolichobasilar anomaly complicated with abdominal aortic aneurysm

    International Nuclear Information System (INIS)

    Ohta, Sumio; Yamaguchi, Takenori; Ogata, Jun; Ito, Mamoru; Kikuchi, Haruhiko

    1985-01-01

    A 41 year-old hypertensive male was admitted because of progressing left hemiparesis and dysarthria. CT demonstrated hyperdense mass with partial contast enhancement, extending from the level of lower pons to that of suprasellar cistern. Reconstructed imaging of CT showed a huge mass lesion, in which a wide curvilinear hyperdensity was demonstrated by contrast enhancement. Cerebral angiography revealed markedly elongated and dilated basilar and carotid arteries. From these findings, the prepontine hyperdense mass lesion was diagnosed as megadolichobasilar anomaly with marked wall thickening. Findings of abdominal aortic angiography and abdominal CT suggested the presence of marked atherosclerosis and abdominal aortic aneurysm with mural thrombi. Six months after initial admission, neurological symptoms gradually deteriorated and CT showed dilatation of the 3rd and lateral ventricles, suggesting the development of hydrocephalus due to compression of the aqueduct by the megadolichobasilar anomaly. Magnetic resonance imaging at this time demonstrated more details of the lesion and the deformity of the brain stem, which was not detected by conventional CT. Complications of vascular anomalies other than intracranial vasculature, such as aortic aneurysm, have also been repoted. After the introduction of CT, demonstration of a long, wide, curvilinear structure with abnormal density in the prepontine region has been reported to be diagnostic for the megadolichobasilar anomaly. This patient has had hypertension for 10 years, which probably due to chronic nephritis. He had no definite findings for angitis, but had abdominal aortic aneurysm with mural thrombi. From these findings, atherosclerosis of large vessels may have played one of the roles in the pathogenesis of this anomaly in the present case. (J.P.N.)

  8. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI

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    Leiros da Costa, Maria do Desterro [Federal University of Paraiba, Movement Disorders Unit, Paraiba (Brazil); Spitz, Mariana; Bacheschi, Luiz Alberto; Barbosa, Egberto Reis [University of Sao Paulo, Movement Disorders Unit, Sao Paulo (Brazil); Leite, Claudia Costa; Lucato, Leandro Tavares [University of Sao Paulo, Department of Radiology, Sao Paulo (Brazil)

    2009-10-15

    Brain magnetic resonance imaging (MRI) studies on Wilson's disease (WD) show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: d-penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. (orig.)

  9. Speech disorders in Parkinson's disease: early diagnostics and effects of medication and brain stimulation.

    Science.gov (United States)

    Brabenec, L; Mekyska, J; Galaz, Z; Rektorova, Irena

    2017-03-01

    Hypokinetic dysarthria (HD) occurs in 90% of Parkinson's disease (PD) patients. It manifests specifically in the areas of articulation, phonation, prosody, speech fluency, and faciokinesis. We aimed to systematically review papers on HD in PD with a special focus on (1) early PD diagnosis and monitoring of the disease progression using acoustic voice and speech analysis, and (2) functional imaging studies exploring neural correlates of HD in PD, and (3) clinical studies using acoustic analysis to evaluate effects of dopaminergic medication and brain stimulation. A systematic literature search of articles written in English before March 2016 was conducted in the Web of Science, PubMed, SpringerLink, and IEEE Xplore databases using and combining specific relevant keywords. Articles were categorized into three groups: (1) articles focused on neural correlates of HD in PD using functional imaging (n = 13); (2) articles dealing with the acoustic analysis of HD in PD (n = 52); and (3) articles concerning specifically dopaminergic and brain stimulation-related effects as assessed by acoustic analysis (n = 31); the groups were then reviewed. We identified 14 combinations of speech tasks and acoustic features that can be recommended for use in describing the main features of HD in PD. While only a few acoustic parameters correlate with limb motor symptoms and can be partially relieved by dopaminergic medication, HD in PD seems to be mainly related to non-dopaminergic deficits and associated particularly with non-motor symptoms. Future studies should combine non-invasive brain stimulation with voice behavior approaches to achieve the best treatment effects by enhancing auditory-motor integration.

  10. Orthognathic Surgery in a Patient with Multiple Sclerosis.

    Science.gov (United States)

    Al-Bazie, Saleh A

    2015-06-01

    The aim of this paper was to report a case of orthognathic surgery successfully done in a patient with multiple sclerosis. Multiple sclerosis (MS) is a chronic, progressive inflammatory disorder of the central nervous system affecting young adults, characterized by lymphocytic infiltration of the brain and spinal cord leading to demyelination and focal axonal damage. Clinically, MS patients present with reversible neurological dysfunction in the early stages, which progresses to irreversible neurological disability and deficit. Oral manifestations of MS include facial numbness or pain, neuralgias, facial paralysis, dysarthria and dysphagia. While dental treatment is not contraindicated in MS patients, it is, however, limited to preventive and supportive dental care. A 23-year-old Saudi male patient with a diagnosis of MS since 2008 reported to the oral and maxillo-facial surgery (OMFS) department for correction of dentofacial deformity. The patient was under follow-up with the neurology department and was being treated with interferon beta-1a. Following consent from the neurologist and the patient, a Lefort 1 segmental osteotomy was done under general anesthesia. The patient was stable throughout the surgical procedure and during the postoperative period. The patient was discharged upon complete surgical recovery and no acute exacerbations of MS were reported during the perioperative period. Based on our observations, orthognathic and maxillofacial surgical procedures can be safely carried out in patients with MS, provided a strict perioperative prophylactic regimen for stress reduction and prevention of acute attacks of MS is adhered to. Due to the stressful nature of dental treatment and oral and maxillofacial surgical procedures, acute exacerbations of MS are very much likely. Hence, it is imperative that dental and oral surgical practitioners are aware of the manifestations of MS and are able to manage such patients with suitable treatment modifications.

  11. Acute Disseminated Encephalomyelitis: A Review of Eleven Cases in Childhood in North of Iran

    Directory of Open Access Journals (Sweden)

    Ali Nikkhah

    2016-01-01

    Full Text Available Background: Acute disseminated encephalomyelitis (ADEM is an inflammatory demyelinating disorder. The pathogenesis is unclear, but it is thought to be immune-mediated. The prognosis is favorable, with most children making a full recovery. Objectives: The present report analyzed different clinical presentations, response to treatment and outcome in a series of 11 patients with ADEM who referred to our tertiary center in north of Iran from 2010 to 2014. Materials and Methods: In this retrospective simple descriptive review, eleven cases with ADEM admitted in the neurology ward from 2010 to 2014 were enrolled. The clinical findings and laboratory and imaging results of patients were reviewed. All of these cases were evaluated with neurological examination, serologic tests for bacterial meningitis and viral encephalitis (especially, herpes simplex virus and brain MRI without contrast. After discharge, patients were followed for at least six months (6 to 12 months clinically and radiologically. Results: Of 11 children, 8 were male and 3 female. Their ages ranged between 4 and 10 years. The mean interval between the preceding infection and symptoms of encephalomyelitis was nine days. The most common presenting symptoms were ataxia in 45.4%, fever and headache in 36.4% and altered consciousness in 18.2% of patients. Neurological examination revealed pyramidal motor signs such as brisk deep tendon reflexes (hyperreflexia (81.8%, cranial nerve involvement (18.2%, dysarthria (9.1% and abnormal movements (9.1%. We followed up these patients in long-term for 6 to 12 months. Only in 1 child who received IVIG, mild ataxia had reminded. Conclusions: The prognosis of acute disseminated encephalomyelitis (ADEM is favorable. Early diagnosis and prompt treatment of ADEM would probably reduce morbidity.

  12. RecoverNow: Feasibility of a Mobile Tablet-Based Rehabilitation Intervention to Treat Post-Stroke Communication Deficits in the Acute Care Setting.

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    Karen H Mallet

    Full Text Available Approximately 40% of patients diagnosed with stroke experience some degree of aphasia. With limited health care resources, patients' access to speech and language therapies is often delayed. We propose using mobile-platform technology to initiate early speech-language therapy in the acute care setting. For this pilot, our objective was to assess the feasibility of a tablet-based speech-language therapy for patients with communication deficits following acute stroke.We enrolled consecutive patients admitted with a stroke and communication deficits with NIHSS score ≥1 on the best language and/or dysarthria parameters. We excluded patients with severe comprehension deficits where communication was not possible. Following baseline assessment by a speech-language pathologist (SLP, patients were provided with a mobile tablet programmed with individualized therapy applications based on the assessment, and instructed to use it for at least one hour per day. Our objective was to establish feasibility by measuring recruitment rate, adherence rate, retention rate, protocol deviations and acceptability.Over 6 months, 143 patients were admitted with a new diagnosis of stroke: 73 had communication deficits, 44 met inclusion criteria, and 30 were enrolled into RecoverNow (median age 62, 26.6% female for a recruitment rate of 68% of eligible participants. Participants received mobile tablets at a mean 6.8 days from admission [SEM 1.6], and used them for a mean 149.8 minutes/day [SEM 19.1]. In-hospital retention rate was 97%, and 96% of patients scored the mobile tablet-based communication therapy as at least moderately convenient 3/5 or better with 5/5 being most "convenient".Individualized speech-language therapy delivered by mobile tablet technology is feasible in acute care.

  13. Wernicke’s encephalopathy following hyperemesis gravidarum

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    Leila Pourali

    2016-06-01

    Full Text Available Background: ″Wernicke’s Korsakoff″ syndrome is the most important complication of severe thiamine deficiency. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke’s encephalopathy (WE is an acute syndrome requiring emergent treatment to prevent death and neurologic morbidity. Korsakoff syndrome (KS refers to a chronic neurologic condition that usually occurs as a consequence of WE. It is a rare complication of hyperemesis gravidarum that confusion, ocular signs, and gait ataxia are the most prevalent symptoms, respectively. Typical brain lesions of wernicke’s encephalopathy (WE are observed at autopsy in 0.4 to 2.8 percent of the general population in the western world and the majority of affected patients are alcoholic. The prevalence of wernicke’s encephalopathy lesions seen on autopsy was 12.5% of alcohol abusers in one report. Among those who with alcohol-related death, it has been reported to be even higher, 29 to 59%. The aim of this study was to report a case of wernicke’s encephalopathy following hyperemesis gravidarum. Case Presentation: A 28-year-old-pregnant woman in 19th weeks of gestation referred to the hospital with hyperemesis, gait ataxia, and dysarthria before that she had hyperemesis gravidarum with weight loss and unresponsive to outpatient and inpatient medical therapy. MRI showed hyperdense lesion around thalamus which was characteristic of wernicke’s encephalopathy. Rapid improvement in patient’s condition occurred after high dose thiamine infusion. Conclusion: In hyperemesis gravidarum, presence of either symptoms of ocular or mental disorder or ataxia must be considered to rule out and appropriate treatment of Wernicke’s syndrome which can cause maternal and fetal death.

  14. Programming Deep Brain Stimulation for Tremor and Dystonia: The Toronto Western Hospital Algorithms.

    Science.gov (United States)

    Picillo, Marina; Lozano, Andres M; Kou, Nancy; Munhoz, Renato Puppi; Fasano, Alfonso

    2016-01-01

    Deep brain stimulation (DBS) is an effective treatment for essential tremor (ET) and dystonia. After surgery, a number of extensive programming sessions are performed, mainly relying on neurologist's personal experience as no programming guidelines have been provided so far, with the exception of recommendations provided by groups of experts. Finally, fewer information is available for the management of DBS in ET and dystonia compared with Parkinson's disease. Our aim is to review the literature on initial and follow-up DBS programming procedures for ET and dystonia and integrate the results with our current practice at Toronto Western Hospital (TWH) to develop standardized DBS programming protocols. We conducted a literature search of PubMed from inception to July 2014 with the keywords "balance", "bradykinesia", "deep brain stimulation", "dysarthria", "dystonia", "gait disturbances", "initial programming", "loss of benefit", "micrographia", "speech", "speech difficulties" and "tremor". Seventy-six papers were considered for this review. Based on the literature review and our experience at TWH, we refined three algorithms for management of ET, including: (1) initial programming, (2) management of balance and speech issues and (3) loss of stimulation benefit. We also depicted algorithms for the management of dystonia, including: (1) initial programming and (2) management of stimulation-induced hypokinesia (shuffling gait, micrographia and speech impairment). We propose five algorithms tailored to an individualized approach to managing ET and dystonia patients with DBS. We encourage the application of these algorithms to supplement current standards of care in established as well as new DBS centers to test the clinical usefulness of these algorithms in supplementing the current standards of care. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Interleaving subthalamic nucleus deep brain stimulation to avoid side effects while achieving satisfactory motor benefits in Parkinson disease: A report of 12 cases.

    Science.gov (United States)

    Zhang, Shizhen; Zhou, Peizhi; Jiang, Shu; Wang, Wei; Li, Peng

    2016-12-01

    Deep brain stimulation (DBS) of the subthalamic nucleus is an effective treatment for advanced Parkinson disease (PD). However, achieving ideal outcomes by conventional programming can be difficult in some patients, resulting in suboptimal control of PD symptoms and stimulation-induced adverse effects. Interleaving stimulation (ILS) is a newer programming technique that can individually optimize the stimulation area, thereby improving control of PD symptoms while alleviating stimulation-induced side effects after conventional programming fails to achieve the desired results. We retrospectively reviewed PD patients who received DBS programming during the previous 4 years in our hospital. We collected clinical and demographic data from 12 patients who received ILS because of incomplete alleviation of PD symptoms or stimulation-induced adverse effects after conventional programming had proven ineffective or intolerable. Appropriate lead location was confirmed with postoperative reconstruction images. The rationale and clinical efficacy of ILS was analyzed. We divided our patients into 4 groups based on the following symptoms: stimulation-induced dysarthria and choreoathetoid dyskinesias, gait disturbance, and incomplete control of parkinsonism. After treatment with ILS, patients showed satisfactory improvement in PD symptoms and alleviation of stimulation-induced side effects, with a mean improvement in Unified PD Rating Scale motor scores of 26.9%. ILS is a newer choice and effective programming strategy to maximize symptom control in PD while decreasing stimulation-induced adverse effects when conventional programming fails to achieve satisfactory outcome. However, we should keep in mind that most DBS patients are routinely treated with conventional stimulation and that not all patients benefit from ILS. ILS is not recommended as the first choice of programming, and it is recommended only when patients have unsatisfactory control of PD symptoms or stimulation

  16. Interleaving subthalamic nucleus deep brain stimulation to avoid side effects while achieving satisfactory motor benefits in Parkinson disease

    Science.gov (United States)

    Zhang, Shizhen; Zhou, Peizhi; Jiang, Shu; Wang, Wei; Li, Peng

    2016-01-01

    Abstract Background: Deep brain stimulation (DBS) of the subthalamic nucleus is an effective treatment for advanced Parkinson disease (PD). However, achieving ideal outcomes by conventional programming can be difficult in some patients, resulting in suboptimal control of PD symptoms and stimulation-induced adverse effects. Interleaving stimulation (ILS) is a newer programming technique that can individually optimize the stimulation area, thereby improving control of PD symptoms while alleviating stimulation-induced side effects after conventional programming fails to achieve the desired results. Methods: We retrospectively reviewed PD patients who received DBS programming during the previous 4 years in our hospital. We collected clinical and demographic data from 12 patients who received ILS because of incomplete alleviation of PD symptoms or stimulation-induced adverse effects after conventional programming had proven ineffective or intolerable. Appropriate lead location was confirmed with postoperative reconstruction images. The rationale and clinical efficacy of ILS was analyzed. Results: We divided our patients into 4 groups based on the following symptoms: stimulation-induced dysarthria and choreoathetoid dyskinesias, gait disturbance, and incomplete control of parkinsonism. After treatment with ILS, patients showed satisfactory improvement in PD symptoms and alleviation of stimulation-induced side effects, with a mean improvement in Unified PD Rating Scale motor scores of 26.9%. Conclusions: ILS is a newer choice and effective programming strategy to maximize symptom control in PD while decreasing stimulation-induced adverse effects when conventional programming fails to achieve satisfactory outcome. However, we should keep in mind that most DBS patients are routinely treated with conventional stimulation and that not all patients benefit from ILS. ILS is not recommended as the first choice of programming, and it is recommended only when patients have

  17. Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis.

    Directory of Open Access Journals (Sweden)

    Marie Miquel

    Full Text Available Chorea-acanthocytosis (ChAc is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS of the ventro-postero-lateral internal globus pallidus (GPi may benefit these patients. To explore this issue, the present multicentre (n=12 retrospective study collected the short and long term outcome of 15 patients who underwent DBS.Data were collected in a standardized way 2-6 months preoperatively, 1-5 months (early and 6 months or more (late after surgery at the last follow-up visit (mean follow-up: 29.5 months.Motor severity, assessed by the Unified Huntington's Disease Rating Scale-Motor Score, UHDRS-MS, was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively. Functional capacity (UHDRS-Functional Capacity Score was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively, whereas incapacity (UHDRS-Independence Score improvement reached significance at early post-surgery only (mean 37.3%. Long term significant improvement of motor symptom severity (≥ 20 % from baseline was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery.This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc.

  18. A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.

    Science.gov (United States)

    Tabatabaiefar, Mohammad Amin; Alipour, Paria; Pourahmadiyan, Azam; Fattahi, Najmeh; Shariati, Laleh; Golchin, Neda; Mohammadi-Asl, Javad

    2017-08-15

    Ataxia telangiectasia (A-T) is a neurodegenerative autosomal recessive disorder with the main characteristics of progressive cerebellar degeneration, sensitivity to ionizing radiation, immunodeficiency, telangiectasia, premature aging, recurrent sinopulmonary infections, and increased risk of malignancy, especially of lymphoid origin. Ataxia Telangiectasia Mutated gene, ATM, as a causative gene for the A-T disorder, encodes the ATM protein, which plays an important role in the activation of cell-cycle checkpoints and initiation of DNA repair in response to DNA damage. Targeted next-generation sequencing (NGS) was performed on an Iranian 5-year-old boy presented with truncal and limb ataxia, telangiectasia of the eye, Hodgkin lymphoma, hyper pigmentation, total alopecia, hepatomegaly, and dysarthria. Sanger sequencing was used to confirm the candidate pathogenic variants. Computational docking was done using the HEX software to examine how this change affects the interactions of ATM with the upstream and downstream proteins. Three different variants were identified comprising two homozygous SNPs and one novel homozygous frameshift variant (c.80468047delTA, p.Thr2682ThrfsX5), which creates a stop codon in exon 57 leaving the protein truncated at its C-terminal portion. Therefore, the activation and phosphorylation of target proteins are lost. Moreover, the HEX software confirmed that the mutated protein lost its interaction with upstream and downstream proteins. The variant was classified as pathogenic based on the American College of Medical Genetics and Genomics guideline. This study expands the spectrum of ATM pathogenic variants in Iran and demonstrates the utility of targeted NGS in genetic diagnostics. Copyright © 2017. Published by Elsevier B.V.

  19. Longer-term needs of stroke survivors with communication difficulties living in the community: a systematic review and thematic synthesis of qualitative studies

    Science.gov (United States)

    Clarke, David

    2017-01-01

    Objective To review and synthesise qualitative literature relating to the longer-term needs of community dwelling stroke survivors with communication difficulties including aphasia, dysarthria and apraxia of speech. Design Systematic review and thematic synthesis. Method We included studies employing qualitative methodology which focused on the perceived or expressed needs, views or experiences of stroke survivors with communication difficulties in relation to the day-to-day management of their condition following hospital discharge. We searched MEDLINE, EMBASE, PsycINFO, CINAHL, The Cochrane Library, International Bibliography of the Social Sciences and AMED and undertook grey literature searches. Studies were assessed for methodological quality by two researchers independently and the findings were combined using thematic synthesis. Results Thirty-two studies were included in the thematic synthesis. The synthesis reveals the ongoing difficulties stroke survivors can experience in coming to terms with the loss of communication and in adapting to life with a communication difficulty. While some were able to adjust, others struggled to maintain their social networks and to participate in activities which were meaningful to them. The challenges experienced by stroke survivors with communication difficulties persisted for many years poststroke. Four themes relating to longer-term need were developed: managing communication outside of the home, creating a meaningful role, creating or maintaining a support network and taking control and actively moving forward with life. Conclusions Understanding the experiences of stroke survivors with communication difficulties is vital for ensuring that longer-term care is designed according to their needs. Wider psychosocial factors must be considered in the rehabilitation of people with poststroke communication difficulties. Self-management interventions may be appropriate to help this subgroup of stroke survivors manage their

  20. An unusual presentation of brucellosis, involving multiple organ systems, with low agglutinating titers: a case report

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    Khorvash Farzin

    2007-07-01

    Full Text Available Abstract Background Brucellosis is a multi-system disease that may present with a broad spectrum of clinical manifestations. While hepatic involvement in brucellosis is not rare, it may rarely involve the kidney or display with cardiac manifestations. Central nervous system involvement in brucellosis sometimes can cause demyelinating syndromes. Here we present a case of brucella hepatitis, myocarditis, acute disseminated encephalomyelitis, and renal failure. Case presentation A 26-year-old man presented with fever, ataxia, and dysarthria. He was a shepherd and gave a history of low grade fever, chilly sensation, cold sweating, loss of appetite, arthralgia and 10 Kg weight loss during the previous 3 months. He had a body temperature of 39°C at the time of admission. On laboratory tests he had elevated level of liver enzymes, blood urea nitrogen, Creatinine, Creatine phosphokinase (MB, and moderate proteinuria. He also had abnormal echocardiography and brain MRI. Enzyme-linked immunosorbent assay for IgG and IgM was negative. Standard tube agglutination test (STAT and 2-mercaptoethanol (2-ME titers were 1:80 and 1:40 respectively. Finally he was diagnosed with brucellosis by positive blood culture and the polymerase chain reaction for Brucella mellitensis. Conclusion In endemic areas clinicians should consider brucellosis in any unusual presentation involving multiple organ systems, even if serology is inconclusive. In endemic areas low STAT and 2-ME titers should be considered as an indication of brucellosis and in these cases additional testing is recommended to rule out brucellosis.

  1. Analysis of acute ischemic stroke presenting classic lacunar syndrome. A study by diffusion-weighted MRI

    Energy Technology Data Exchange (ETDEWEB)

    Terai, Satoshi; Ota, Kazuki; Tamaki, Kinya [Hakujyuji Hospital, Fukuoka (Japan)

    2002-03-01

    We retrospectively assessed the pathophysiological features of acute ischemic stroke presenting ''classic'' lacunar syndrome by using diffusion-weighted imaging (DWI). Subjects were 16 patients who were admitted to our hospital within 24 hours of stroke onset and underwent DWI examination on admission. These were divided into three categorical groups; pure motor hemiplegia (PMH) in 8, sensorimotor stroke (SMS) in 7, and dysarthria-clumsy hand syndrome (DCHS) in 1. The fresh responsible lesions were identified by DWI in the perforating territory in 7 patients with PMH and 7 with SMS. Four (one had two possible response lesions; pons and corona radiata) and five patients in the respective groups were diagnosed as lacunar infarction on admission (the largest dimension of the lesion measuring smaller than 15 mm). On the contralateral side to the neurological symptoms, DWI revealed high intensities in cortex, subcortical white matter, and anterior and posterior border zones in the remaining one patient with PMH and in the precentral arterial region in one with DCHS. They were diagnosed as atherothrombotic infarction resulting from the occlusion of the internal carotid artery and cerebral embolism due to atrial fibrillation, respectively. Three patients with PMH showed progressive deterioration after admission and follow-up DWI study in an acute stage revealed enlargement of heir ischemic lesions. The present study suggests that DWI is a useful imaging technique for diagnosis of clinical categories and observation for pathophsiological alteration in the acute ischemic stroke patients with ''classic'' lacunar syndrome. Our results also indicate a necessity to be aware that various types of fresh ischemic lesions other than a single lacune might possibly be developing in cases with this syndrome. (author)

  2. Current evidence on transcranial magnetic stimulation and its potential usefulness in post-stroke neurorehabilitation: Opening new doors to the treatment of cerebrovascular disease.

    Science.gov (United States)

    León Ruiz, M; Rodríguez Sarasa, M L; Sanjuán Rodríguez, L; Benito-León, J; García-Albea Ristol, E; Arce Arce, S

    2016-05-06

    Repetitive transcranial magnetic stimulation (rTMS) is a therapeutic reality in post-stroke rehabilitation. It has a neuroprotective effect on the modulation of neuroplasticity, improving the brain's capacity to retrain neural circuits and promoting restoration and acquisition of new compensatory skills. We conducted a literature search on PubMed and also gathered the latest books, clinical practice guidelines, and recommendations published by the most prominent scientific societies concerning the therapeutic use of rTMS in the rehabilitation of stroke patients. The criteria of the International Federation of Clinical Neurophysiology (2014) were followed regarding the inclusion of all evidence and recommendations. Identifying stroke patients who are eligible for rTMS is essential to accelerate their recovery. rTMS has proven to be safe and effective for treating stroke complications. Functional brain activity can be optimised by applying excitatory or inhibitory electromagnetic pulses to the hemisphere ipsilateral or contralateral to the lesion, respectively, as well as at the level of the transcallosal pathway to regulate interhemispheric communication. Different studies of rTMS in these patients have resulted in improvements in motor disorders, aphasia, dysarthria, oropharyngeal dysphagia, depression, and perceptual-cognitive deficits. However, further well-designed randomized controlled clinical trials with larger sample size are needed to recommend with a higher level of evidence, proper implementation of rTMS use in stroke subjects on a widespread basis. Copyright © 2016 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  3. A case of left-sided unilateral spatial neglect owing to the cerebral infarction in the distribution of the right posterior cerebral artery

    International Nuclear Information System (INIS)

    Odagaki, Yuji; Oka, Iori; Kon, Yutaka; Asano, Yutaka

    1985-01-01

    We report a case of left-sided unilateral spatial neglect (USN) induced by the cerebral infarction in the distribution of right posterior cerebral artery (PCA). A 69-year-old, right-handed man, who had had a sudden onset of left hemiparesis in August 1983, was admitted to our hospital on January 16, 1984, because of nocturnal delirium. He became alert a few days after admission, but was euphoric and sometimes irritable. Neurologic examination disclosed left homonymous hemianopsia, dysarthria, left central facial weakness, spastic left hemiparesis, hyperactive reflexes on the left with no Babinski sign, left hemisensory loss, and left thalamic pain. On neuropsychologic examination it was revealed that he had a tendency to neglect the left half of his extrapersonal space. When asked to locate cities on a blank map of Japan, he located most of them not only on the right side of the map but also incorrectly. He also had a severe acalculia. There was gradual improvement in these neuropsychologic symptoms. CT demonstrated an area of decreased density in the territory of the right PCA, posterolateral portion of the right thalamus, and the posterior limb of right internal capsule, sparing parietal and temporal lobes. Single-photon emission computed tomography (SPECT) using the Xenon-133 inhalation method showed, however, diminished regional cerebral blood flow (rCBF) in an area larger than the area of infarction demonstrated by CT, including the right parieto-temporo-occipital junctional area, which has been considerd to be responsible for left-sided USN. The authors ascribed the patient's left-sided USN to the lesion of this area that was revealed not morphologically by CT but functionally by SPECT, although the possibility that the lesions of the medial portion of the right occipital lobe and/or subcortical lesions of such areas as the thalamus and the internal capsule more or less influenced the neuropsychologic symptoms could not be excluded. (author)

  4. DPPX potassium channel antibody: frequency, clinical accompaniments, and outcomes in 20 patients.

    Science.gov (United States)

    Tobin, William Oliver; Lennon, Vanda A; Komorowski, Lars; Probst, Christian; Clardy, Stacey Lynn; Aksamit, Allen J; Appendino, Juan Pablo; Lucchinetti, Claudia F; Matsumoto, Joseph Y; Pittock, Sean J; Sandroni, Paola; Tippmann-Peikert, Maja; Wirrell, Elaine C; McKeon, Andrew

    2014-11-11

    To describe the detection frequency and clinical associations of immunoglobulin G (IgG) targeting dipeptidyl-peptidase-like protein-6 (DPPX), a regulatory subunit of neuronal Kv4.2 potassium channels. Specimens from 20 patients evaluated on a service basis by tissue-based immunofluorescence yielded a synaptic immunostaining pattern consistent with DPPX-IgG (serum, 20; CSF, all 7 available). Transfected HEK293 cell-based assay confirmed DPPX specificity in all specimens. Sixty-nine patients with stiff-person syndrome and related disorders were also evaluated by DPPX-IgG cell-based assay. Of 20 seropositive patients, 12 were men; median symptom onset age was 53 years (range, 13-75). Symptom onset was insidious in 15 and subacute in 5. Twelve patients reported prodromal weight loss. Neurologic disorders were multifocal. All had one or more brain or brainstem manifestations: amnesia (16), delirium (8), psychosis (4), depression (4), seizures (2), and brainstem disorders (15; eye movement disturbances [8], ataxia [7], dysphagia [6], dysarthria [4], respiratory failure [3]). Nine patients reported sleep disturbance. Manifestations of central hyperexcitability included myoclonus (8), exaggerated startle (6), diffuse rigidity (6), and hyperreflexia (6). Dysautonomia involved the gastrointestinal tract (9; diarrhea [6], gastroparesis, and constipation [3]), bladder (7), cardiac conduction system (3), and thermoregulation (1). Two patients had B-cell neoplasms: gastrointestinal lymphoma (1), and chronic lymphocytic leukemia (1). Substantial neurologic improvements followed immunotherapy in 7 of 11 patients with available treatment data. DPPX-IgG was not detected in any of the stiff-person syndrome patients. DPPX-IgG is a biomarker for an immunotherapy-responsive multifocal neurologic disorder of the central and autonomic nervous systems. © 2014 American Academy of Neurology.

  5. Paracoccidioidomicose em hemisfério cerebral e tronco encefálico: relato de caso Paracoccidioidomycosis in cerebral hemisphere and brainstem: case report

    Directory of Open Access Journals (Sweden)

    Manoel Baldoino Leal Filho

    2006-09-01

    Full Text Available Relata-se sobre um homem de 36 anos com passagem quatro anos antes pela selva amazônica. Admitido após seis meses do aparecimento progressivo de tetraparesia, ataxia de marcha, disfagia, disartria, dispnéia e soluço. A ressonância magnética revelou lesão parietoccipital à direita e no bulbo, sendo esta última maior. Investigações para tuberculose e síndrome da imunodeficiência adquirida tiveram resultados negativos. Foi submetido a microcirurgia da lesão do bulbo. O estudo anatomopatológico revelou paracoccidioidomicose. Recebeu tratamento com anfotericina B até 2100 mg, e sulfametoxazol-trimetoprim por três meses, e fisioterapia. Voltou às atividades após seis meses do término do tratamento. Comenta-se sobre a participação do sistema imunológico e das citocinas (interleucinas.We report on a 36 years-old man that had been at the Amazon forest four years before. Six months before the admission he had developed a progressive quadriparesis, gait ataxia, dysphagia, dysarthria, difficulty in breathing and hiccup. The gadolinium-enhanced T1-weighted MRI showed a lesion into the right parietoccipital area and another into the medulla, that was the largest. There was any evidence of tuberculosis or AIDS. The patient was submitted to microsurgical approach to the medulla. Pathological examination revealed paracoccidioidomycosis. Treatment with anphotericin B till 2100mg was administered followed by sulfamethoxazole-trimetoprim for three months plus physical therapy. The patient went back to his activities six months after the end of the treatment. Comments are presented about the participation of the immunological system and of the cytokines (interleukines.

  6. ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

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    Kathleen J Sweadner

    Full Text Available A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase. Several lines of evidence suggest that the variant is causative. ATP1A3 mutations can cause rapid-onset dystonia-parkinsonism (RDP with a similar age and speed of onset, as well as severe diseases of infancy. The patient's ATP1A3 p.Gly316Ser mutation was validated in the laboratory by the impaired ability of the expressed protein to support the growth of cultured cells. In a crystal structure of Na,K-ATPase, the mutated amino acid was directly apposed to a different amino acid mutated in RDP. Clinical evaluation showed that the patient had many characteristics of RDP, however he had minimal fixed dystonia, a defining symptom of RDP. Successive magnetic resonance imaging (MRI revealed progressive cerebellar atrophy, explaining the ataxia. The absence of dystonia in the presence of other RDP symptoms corroborates other evidence that the cerebellum contributes importantly to dystonia pathophysiology. We discuss the possibility that a second de novo variant, in ubiquilin 4 (UBQLN4, a ubiquitin pathway component, contributed to the cerebellar neurodegenerative phenotype and differentiated the disease from other manifestations of ATP1A3 mutations. We also show that a homozygous variant in GPRIN1 (G protein-regulated inducer of neurite outgrowth 1 deletes a motif with multiple copies and is unlikely to be causative.

  7. The effectiveness of Lee Silverman Voice Treatment therapy issued interactively through an iPad device: A non-inferiority study.

    Science.gov (United States)

    Griffin, Murray; Bentley, John; Shanks, Joseph; Wood, Carly

    2018-04-01

    Introduction This study compared the differences in recorded speech variables between people treated with conventional 'in person' Lee Silverman Voice Treatment (LSVT) and those treated remotely via iPad-based 'Facetime'. Method Eight participants were selected for the iPad LSVT, and 21 similarly matched subjects were selected from existing data to form the 'in person' group. Participants in both groups had diagnosed idiopathic Parkinson's disease and moderate hypokinetic dysarthria. Eighteen sessions of prescribed LSVT comprising a pre-treatment assessment, 16 treatment sessions, and a six months' post-treatment assessment were administered for each person. In both groups, pre- and post-treatment assessments were conducted face-to-face. Performance measures were recorded during assessment and treatment. Average measures were determined for all tasks at all time points and a summary outcome variable was composed from across-task performance. Results Non-inferiority testing confirmed that iPad LSVT was non-inferior in treating all LSVT task 3 variables except generating words, with the 90% upper confidence intervals (CI) lying between the non-inferiority margin of ± 2.25 and zero. The iPad was superior in treating the task 3 rainbow reading passage and describing motor task variables with upper and lower 90% CI values being negative. The improvement in the summary outcome variable score was also superior in the iPad group. Discussion Non-inferiority testing implies that the iPad LSVT is non-inferior in treating task three variables when compared to traditional LSVT. The study supports further development of remote delivery solutions involving the Apple iPad and 'Facetime' system as a means of improving access to services and the participant's experience.

  8. Tongue-controlled computer game: a new approach for rehabilitation of tongue motor function.

    Science.gov (United States)

    Kothari, Mohit; Svensson, Peter; Jensen, Jim; Holm, Trine Davidsen; Nielsen, Mathilde Skorstengaard; Mosegaard, Trine; Nielsen, Jørgen Feldbæk; Ghovanloo, Maysam; Baad-Hansen, Lene

    2014-03-01

    To investigate the influence of tongue disability, age, and sex on motor performance for a tongue-training paradigm involving playing a computer game using the Tongue Drive System (TDS). Two controlled observational studies. A neurorehabilitation center and a dental school. In study 1, tongue-disabled patients with symptoms of dysphagia and dysarthria (n=11) and age- and sex-matched controls (n=11) participated in tongue training. In study 2, healthy elderly persons (n=16) and healthy young persons (n=16) volunteered. In study 1 and study 2, the tongue training lasted 30 and 40 minutes, respectively. Participants were instructed to play a computer game with the tongue using TDS. Motor performance was compared between groups in both studies. Correlation analyses were performed between age and relative improvement in performance. Subject-based reports of motivation, fun, pain, and fatigue evaluated on 0-to-10 numeric rating scales were compared between groups. In study 1, tongue-disabled patients performed poorer than healthy controls (P=.005) and with a trend of a sex difference (P=.046). In study 2, healthy young participants performed better than healthy elderly participants (Peffect of sex (P=.140). There was a significant negative correlation between age and relative improvement in performance (δ=-.450; P=.009). There were no significant differences in subject-based reports of motivation, fun, pain, and fatigue between groups in any of the studies (P>.094). The present study provides evidence that tongue disability and age can influence behavioral measures of tongue motor performance. TDS may be a new adjunctive neurorehabilitation regimen in treating tongue-disabled patients. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  9. Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series.

    Science.gov (United States)

    Ueno, Hiroki; Kobatake, Keitaro; Matsumoto, Masayasu; Morino, Hiroyuki; Maruyama, Hirofumi; Kawakami, Hideshi

    2011-12-12

    Previous studies have shown widespread multisystem degeneration in patients with sporadic amyotrophic lateral sclerosis who develop a total locked-in state and survive under mechanical ventilation for a prolonged period of time. However, the disease progressions reported in these studies were several years after disease onset. There have been no reports of long-term follow-up with brain imaging of patients with familial amyotrophic lateral sclerosis at an advanced stage of the disease. We report the cases of siblings with amyotrophic lateral sclerosis with homozygous deletions of the exon 5 mutation of the gene encoding optineurin, in whom brain computed tomography scans were followed up for more than 20 years. The patients were a Japanese brother and sister. The elder sister was 33 years of age at the onset of disease, which began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 revealed no abnormality. Atrophy of her brain gradually progressed. Ten years after the onset of mechanical ventilation, atrophy of her whole brain, including the cerebral cortex, brain stem and cerebellum, markedly progressed. Her younger brother was 36 years of age at the onset of disease, which presented as muscle weakness of his left upper limb. One year later, he showed dysphagia and dysarthria, and tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on brain computed tomography scans obtained at the age of 37 years. At the age of 48 years, computed tomography scans showed marked brain atrophy with ventricular dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister. We conclude that a homozygous deletion-type mutation in the optineurin gene may be associated with widespread

  10. Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids

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    M. Grazia Cotticelli

    2013-01-01

    Full Text Available Friedreich ataxia is an autosomal recessive, inherited neuro- and cardio-degenerative disorder characterized by progressive ataxia of all four limbs, dysarthria, areflexia, sensory loss, skeletal deformities, and hypertrophic cardiomyopathy. Most disease alleles have a trinucleotide repeat expansion in the first intron of the FXN gene, which decreases expression of the encoded protein frataxin. Frataxin is involved in iron–sulfur-cluster (ISC assembly in the mitochondrial matrix, and decreased frataxin is associated with ISC-enzyme and mitochondrial dysfunction, mitochondrial iron accumulation, and increased oxidative stress. To assess the role of oxidative stress in lipid peroxidation in Friedreich ataxia we used the novel approach of treating Friedreich ataxia cell models with polyunsaturated fatty acids (PUFAs deuterated at bis-allylic sites. In ROS-driven oxidation of PUFAs, the rate-limiting step is hydrogen abstraction from a bis-allylic site; isotopic reinforcement (deuteration of bis-allylic sites slows down their peroxidation. We show that linoleic and α-linolenic acids deuterated at the peroxidation-prone bis-allylic positions actively rescue oxidative-stress-challenged Friedreich ataxia cells. The protective effect of the deuterated PUFAs is additive in our models with the protective effect of the CoQ10 analog idebenone, which is thought to decrease the production of free radicals. Moreover, the administration of deuterated PUFAs resulted in decreased lipid peroxidation as measured by the fluorescence of the fatty acid analog C11-BODIPY (581/591 probe. Our results are consistent with a role for lipid peroxidation in Friedreich ataxia pathology, and suggest that the novel approach of oral delivery of isotope-reinforced PUFAs may have therapeutic potential in Friedreich ataxia and other disorders involving oxidative stress and lipid peroxidation.

  11. Damage to the Left Precentral Gyrus Is Associated With Apraxia of Speech in Acute Stroke.

    Science.gov (United States)

    Itabashi, Ryo; Nishio, Yoshiyuki; Kataoka, Yuka; Yazawa, Yukako; Furui, Eisuke; Matsuda, Minoru; Mori, Etsuro

    2016-01-01

    Apraxia of speech (AOS) is a motor speech disorder, which is clinically characterized by the combination of phonemic segmental changes and articulatory distortions. AOS has been believed to arise from impairment in motor speech planning/programming and differentiated from both aphasia and dysarthria. The brain regions associated with AOS are still a matter of debate. The aim of this study was to address this issue in a large number of consecutive acute ischemic stroke patients. We retrospectively studied 136 patients with isolated nonlacunar infarcts in the left middle cerebral artery territory (70.5±12.9 years old, 79 males). In accordance with speech and language assessments, the patients were classified into the following groups: pure form of AOS (pure AOS), AOS with aphasia (AOS-aphasia), and without AOS (non-AOS). Voxel-based lesion-symptom mapping analysis was performed on T2-weighted images or fluid-attenuated inversion recovery images. Using the Liebermeister method, group-wise comparisons were made between the all AOS (pure AOS plus AOS-aphasia) and non-AOS, pure AOS and non-AOS, AOS-aphasia and non-AOS, and pure AOS and AOS-aphasia groups. Of the 136 patients, 22 patients were diagnosed with AOS (7 patients with pure AOS and 15 patients with AOS-aphasia). The voxel-based lesion-symptom mapping analysis demonstrated that the brain regions associated with AOS were centered on the left precentral gyrus. Damage to the left precentral gyrus is associated with AOS in acute to subacute stroke patients, suggesting a role of this brain region in motor speech production. © 2015 American Heart Association, Inc.

  12. Metronidazole-Induced Encephalopathy in Alcoholic Liver Disease: A Diagnostic and Therapeutic Challenge.

    Science.gov (United States)

    Sonthalia, Nikhil; Pawar, Sunil V; Mohite, Ashok R; Jain, Samit S; Surude, Ravindra G; Rathi, Pravin M; Contractor, Qais

    2016-10-01

    Acute encephalopathy in a patient with alcoholic liver disease (ALD) is a commonly encountered emergency situation occurring most frequently due to liver failure precipitated by varying etiologies. Acute reversible cerebellar ataxia with confusion secondary to prolonged metronidazole use has been reported rarely as a cause of encephalopathy in patients with ALD. We describe a decompensated ALD patient with recurrent pyogenic cholangitis associated with hepatolithiasis who presented to the emergency department with sudden-onset cerebellar ataxia with dysarthria and mental confusion after prolonged use of metronidazole. Magnetic resonance imaging (MRI) of the brain was suggestive of bilateral dentate nuclei hyper intensities on T2 and fluid-attenuated inversion recovery sections seen classically in metronidazole-induced encephalopathy (MIE). Decompensated liver cirrhosis resulted in decreased hepatic clearance and increased cerebrospinal fluid concentration of metronidazole leading to toxicity at a relatively low total cumulative dose of 22 g. Both the clinical symptoms and MRI brain changes were reversed at 7 days and 6 weeks, respectively, after discontinuation of metronidazole. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: A patient with ALD presenting with encephalopathy creates a diagnostic dilemma for the emergency physician regarding whether to continue metronidazole and treat for hepatic encephalopathy or to suspect for MIE and withhold the drug. Failure to timely discontinue metronidazole may worsen the associated hepatic encephalopathy in these patients. Liver cirrhosis patients have higher mean concentration of metronidazole and its metabolite in the blood, making it necessary to keep the cumulative dose of metronidazole to < 20 g in them. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. [Clinical Characteristics of Metronidazole-induced Encephalopathy: A Report of Two Cases and a Review of 32 Japanese Cases in the Literature].

    Science.gov (United States)

    Kato, Hideaki; Sosa, Hiroko; Mori, Masaaki; Kaneko, Takeshi

    2015-09-01

    Metronidazole is an antibiotic classically used against most anaerobic bacteria and protozoa. Because an intravenous form of metronidazole has recently entered the market, the use of this antibiotic is attracting renewed interest in many clinical settings in Japan. However, neurotoxicity is a major adverse event: in the central nervous system metronidazole-induced encephalopathy is a rare but serious condition. We performed a literature review of 34 cases including 2 of our cases, 25 from domestic conference abstracts, and 7 cases presented in full research papers. The mean patient age was 64.7 years. The conditions most commonly treated with metronidazole were brain abscess (35.3%), liver abscess (17.6%), and Clostridium difficile infection (14.7%). The most common predisposing conditions were liver dysfunction (26.5%), diabetes and other metabolic disorders (20.6%), and hematologic or solid organ malignancy (14.7%). The mean period of administration before the onset of encephalopathy symptoms was 61.3 days, and the mean total dose was 95.9g. The initial chief complaints were dysarthria (in 70.6% of the cases) and ataxia (61.8%); 82.4% of the cases were diagnosed on the basis of MRI (T2-weighted or FLAIR imaging). The key imaging finding was high intensity in the dentate nucleus bilaterally (82.4%). Stopping the metronidazole led to symptom remission within 8.5 days, but the MRI changes remained longer than the clinical symptoms. Two patients (6.0%) developed irreversible disturbance of consciousness. Although the mechanisms of this type of encephalopathy have not yet been elucidated, localized nerve-cell edema is likely caused by decreased metronidazole metabolism associated with liver and metabolic dysfunction. Careful observation for neurologic signs should be conducted during the treatment of brain abscesses associated with metronidazole administration, because patients with brain abscesses are naturally at high risk of metronidazole-induced encephalopathy.

  14. Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

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    Saud Alsahli

    2018-02-01

    Full Text Available Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. Methods: We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Results: Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 . A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI of the brain was normal in 60% of patients. Conclusions: We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

  15. Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

    Science.gov (United States)

    Alsahli, Saud; Alrifai, Muhammad Talal; Al Tala, Saeed; Mutairi, Fuad Al; Alfadhel, Majid

    2018-01-01

    Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 ). A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI) of the brain was normal in 60% of patients. We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

  16. Effects of body position and sex group on tongue pressure generation.

    Science.gov (United States)

    Dietsch, Angela M; Cirstea, Carmen M; Auer, Ed T; Searl, Jeff P

    2013-11-01

    Fine control of orofacial musculature is necessary to precisely accelerate and decelerate the articulators across exact distances for functional speech and coordinated swallows (Amerman & Parnell, 1990; Benjamin, 1997; Kent, Duffy, Slama, Kent, & Clift, 2001). Enhanced understanding of neural control for such movements could clarify the nature of and potential remediation for some dysarthrias and other orofacial myofunctional impairments. Numerous studies have measured orolingual force and accuracy during speech and nonspeech tasks, but have focused on young adults, maximum linguapalatal pressures, and upright positioning (O'Day, Frank, Montgomery, Nichols, & McDade, 2005; Solomon & Munson, 2004; Somodi, Robin, & Luschei, 1995; Youmans, Youmans, & Stierwalt, 2009). Patients' medical conditions or testing procedures such as concurrent neuroimaging may preclude fully upright positioning during oral motor assessments in some cases. Since judgments about lingual strength and coordination can influence clinical decisions regarding the functionality of swallowing and speech, it is imperative to understand any effects of body positioning differences. In addition, sex differences in the control of such tasks are not well defined. Therefore, this study evaluated whether pressures exerted during tongue movements differ in upright vs. supine body position in healthy middle-aged men and women. Twenty healthy middle-aged adults compressed small air-filled plastic bulbs in the oral cavity at predetermined fractions of task-specific peak pressure in a randomized block design. Tasks including phoneme repetitions and nonspeech isometric contractions were executed in upright and supine positions. Participants received continuous visual feedback regarding targets and actual exerted pressures. Analyses compared average pressure values for each subject, task, position, and effort level. Speech-like and nonspeech tongue pressures did not differ significantly across body position or sex

  17. MRI findings of acute cerebral swelling and brain edema in the acute stage

    International Nuclear Information System (INIS)

    Oki, Hideo; Ueda, Shin; Matsumoto, Keizo; Kashihara, Michiharu; Furuichi, Masashi.

    1988-01-01

    We report two cases, one of acute cerebral swelling and the other with a major stroke, whose MRI has shown very interesting findings. Case 1, a 32-year-old male, was admitted to our service because of a lowering of his consciousness immediately after a head injury. On admission, the patient was semicomatous (E 1 M 2 V 1 , with anisocoria (R > L). His plain skull X-ray was normal. A CT scan, however, demonstrated right isodensity hemispheric swelling associated with a subarachnoid hemorrhage in the right Sylvian fissure. A right carotid angiogram showed no vascular disorders. MR imaging of the spin density demonstrated a hyperintensitive thickening of the gray matter in the whole right hemisphere. Case 2, a 58-year-old female, was admitted because of a sudden onset of loss of consciousness, with right hemiparesis and dysarthria. On admission, her consciousness was semicomatous (E 1 M 3 V 1 ), and it deteriorated to a deep coma 1 hour later. A CT scan demonstrated a diffuse left hemispheric low density, with a finding of hemorrhagic infarction in the basal ganglia. MR imaging of the spin density showed a hyperintensitive thickening of the gray matter resembling that of Case 1. The findings of the spin-echo images of our two cases showed a hyperintensitive thickening of the gray matter in both. The hyperintensity and thickening of the gray matter apparently indicated a sort of hyperemia and brain edema. These findings led us to suspect that the hyperemia associated with acute cerebral swelling and ischemic brain edema of our two cases originated in the gray matter, although it has been considered that the pathogenesis of acute cerebral swelling is not known and that brain edema, especially vasogenic edema, will mostly develop in the white matter rather than in the gray matter. (author)

  18. Parkinsonian syndromes presenting with circadian rhythm sleep disorder- advanced sleep-phase type.

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    Shukla, Garima; Kaul, Bhavna; Gupta, Anupama; Goyal, Vinay; Behari, Madhuri

    2015-01-01

    Circadian rhythm sleep disorder-advanced sleep-phase type is a relatively uncommon disorder, mostly seen among the elderly population. Impaired circadian rhythms have been reported in neurodegenerative conditions; however, there are no reports of any circadian rhythm sleep disorder among patients with Parkinsonian syndromes. We report two patients who presented with this circadian rhythm disorder, and were then diagnosed with a Parkinsonian syndrome. The cases. A 65-year-old retired man presented with history of abrupt change in sleep schedules, sleeping around 6.30-7 p.m. and waking up around 3-4 a.m. for the last 2 months. On detailed examination, the patient was observed to have symmetrical bradykinesia and cogwheel rigidity of limbs. A diagnosis of multiple system atrophy was made, supported by MRI findings and evidence of autonomic dysfunction. Symptoms of change in sleep-wake cycles resolved over the next 1 year, while the patient was treated with dopaminergic therapy. A 47-year-old man, who was being evaluated for presurgical investigation for refractory temporal lobe epilepsy, presented with complaints suggestive of dysarthria, bradykinesia of limbs and frequent falls for 5 months. Simultaneously, he began to sleep around 7 p.m. and wake up at about 2-3 a.m. Examination revealed severe axial rigidity, restricted vertical gaze and bradykinesia of limbs. A diagnosis of progressive supranuclear palsy was made. This is the first report of Parkinson's plus syndromes presenting with a circadian rhythm sleep disorder-advanced sleep-phase type. More prospective assessment for circadian sleep disorders may introduce useful insights into similar associations. Copyright 2015, NMJI.

  19. Short circuit in deep brain stimulation.

    Science.gov (United States)

    Samura, Kazuhiro; Miyagi, Yasushi; Okamoto, Tsuyoshi; Hayami, Takehito; Kishimoto, Junji; Katano, Mitsuo; Kamikaseda, Kazufumi

    2012-11-01

    The authors undertook this study to investigate the incidence, cause, and clinical influence of short circuits in patients treated with deep brain stimulation (DBS). After the incidental identification of a short circuit during routine follow-up, the authors initiated a policy at their institution of routinely evaluating both therapeutic impedance and system impendence at every outpatient DBS follow-up visit, irrespective of the presence of symptoms suggesting possible system malfunction. This study represents a report of their findings after 1 year of this policy. Implanted DBS leads exhibiting short circuits were identified in 7 patients (8.9% of the patients seen for outpatient follow-up examinations during the 12-month study period). The mean duration from DBS lead implantation to the discovery of the short circuit was 64.7 months. The symptoms revealing short circuits included the wearing off of therapeutic effect, apraxia of eyelid opening, or dysarthria in 6 patients with Parkinson disease (PD), and dystonia deterioration in 1 patient with generalized dystonia. All DBS leads with short circuits had been anchored to the cranium using titanium miniplates. Altering electrode settings resulted in clinical improvement in the 2 PD cases in which patients had specific symptoms of short circuits (2.5%) but not in the other 4 cases. The patient with dystonia underwent repositioning and replacement of a lead because the previous lead was located too anteriorly, but did not experience symptom improvement. In contrast to the sudden loss of clinical efficacy of DBS caused by an open circuit, short circuits may arise due to a gradual decrease in impedance, causing the insidious development of neurological symptoms via limited or extended potential fields as well as shortened battery longevity. The incidence of short circuits in DBS may be higher than previously thought, especially in cases in which DBS leads are anchored with miniplates. The circuit impedance of DBS

  20. An autopsied case of MV2K + C-type sporadic Creutzfeldt-Jakob disease presenting with widespread cerebral cortical involvement and Kuru plaques.

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    Iwasaki, Yasushi; Saito, Yufuko; Aiba, Ikuko; Kobayashi, Atsushi; Mimuro, Maya; Kitamoto, Tetsuyuki; Yoshida, Mari

    2017-06-01

    MV2-type sporadic Creutzfeldt-Jakob disease (sCJD), which was previously called "Kuru-plaque variant", was gradually revealed to have a wide spectrum and has been classified into three pathological subtypes: MV2K, MV2C and MV2K + C. We herein describe the detailed clinical findings and neuropathologic observations from an autopsied MV2K + C-type Japanese sCJD case with widespread cerebral cortical pathology and Kuru plaques. In the early stages of the disease, the patient exhibited gait disturbance with ataxia and dysarthria as well as gradual appearance of cognitive dysfunction. Diffusion-weighted images (DWI) on MRI revealed extensive cerebral cortical hyperintensity. Pathologic investigation revealed extensive spongiform change in the cerebral cortex, particularly in the deeper layers. Vacuole size varied, and some were confluent. Prion protein (PrP) immunostaining revealed extensive PrP deposition in the cerebral cortex, basal ganglia, thalamus, cerebellum, brainstem and spinal cord. In the cerebral cortex, synaptic-type, Kuru plaque-like, and coarse plaque-type PrP depositions were mainly observed, along with some perivacuolar-type PrP depositions. Kuru plaques and coarse plaque-type PrP depositions also were observed in the cerebellar cortex. PrP gene analysis revealed no mutations, and polymorphic codon 129 exhibited Met/Val heterozygosity. Western blot analysis revealed a mixture of intermediate-type PrP Sc and type 2 PrP Sc . Based on previous reports regarding MV2-type sCJD and the clinicopathologic findings of the present case, we speculated that it may be possible to clinically distinguish each MV2 subtype. Clinical presentation of the MV2K + C subtype includes predominant cerebral cortical involvement signs with ataxia and DWI hyperintensity of the cerebral cortex on MRI. © 2016 Japanese Society of Neuropathology.

  1. Symptomatic aggravation after corticosteroid pulse therapy in definite sporadic Creutzfeldt-Jakob disease with the feature of Hashimoto's encephalopathy.

    Science.gov (United States)

    Jang, Jae-Won; Park, So Young; Park, Young Ho; Kim, Jung E; Kim, SangYun

    2014-09-08

    Creutzfeldt-Jakob disease and Hashimoto's encephalopathy often show similar clinical presentation. Among Creutzfeldt-Jakob disease mimics, Hashimoto's encephalopathy is particularly important as it is treatable with corticosteroids. Thus, in cases of middle-aged woman diagnosed with probable Creutzfeldt-Jakob disease and who exhibit high titers of antithyroid antibodies, corticosteroid pulse therapy is typically performed with expectations of near complete recovery from Hashimoto's encephalopathy. Herein, we provide the first case report that exhibited a negative effect of corticosteroid pulse therapy for a patient with Creutzfeldt-Jakob disease with features of Hashimoto's encephalopathy. We report a case of 59-year-old Asian woman with blurred vision, dysarthria, myoclonus, and rapidly progressive dementia. Cerebrospinal fluid showed 14-3-3 protein positive. Electroencephalogram showed periodic sharp waves (1.5 Hz) at the bilateral frontal or occipital areas. Magnetic resonance imaging showed high signal intensities at the bilateral cerebral cortex, caudate nucleus, and putamen. The patient was diagnosed with probable Creutzfeldt-Jakob disease. However, serum analysis showed a high titer of antithyroid antibodies. We started corticosteroid pulse therapy with subsequent aggravation of seizure activity including generalized myoclonus, epilepsia parialis continua, and ballistic dyskinesia, which was effectively treated with clonazepam. We provide evidence of a case of Creutzfeldt-Jakob disease that exhibited clinical deterioration after corticosteroid therapy. Although histopathological confirmation with brain biopsy is not easily available in Creutzfeldt-Jakob disease patients, selective initiation of corticosteroid pulse therapy should be considered in cases of uncertain diagnosis for differentiation with Hashimoto's encephalopathy.

  2. Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.

    Science.gov (United States)

    Latimer, Caitlin S; Flanagan, Margaret E; Cimino, Patrick J; Jayadev, Suman; Davis, Marie; Hoffer, Zachary S; Montine, Thomas J; Gonzalez-Cuyar, Luis F; Bird, Thomas D; Keene, C Dirk

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline. The neuropathologic changes of AOHD are well characterized, but there are fewer reports that describe the neuropathology of JHD. Here we report a case of a six-year-old boy with paternally-inherited JHD caused by 169 CAG trinucleotide repeats who presented at age four with developmental delay, dysarthria, and seizures before dying at age 6. The boy's clinical presentation and neuropathological findings are directly compared to those of his father, who presented with AOHD and 54 repeats. A full autopsy was performed for the JHD case and a brain-only autopsy was performed for the AOHD case. Histochemically- and immunohistochemically-stained slides were prepared from formalin-fixed, paraffin-embedded tissue sections. Both cases had neuropathology corresponding to Vonsattel grade 3. The boy also had cerebellar atrophy with huntingtin-positive inclusions in the cerebellum, findings not present in the father. Autopsies of father and son provide a unique opportunity to compare and contrast the neuropathologic findings of juvenile and adult onset HD while also providing the first immunohistochemical evidence of cerebellar involvement in JHD. Additionally this is the first known report to include findings from peripheral tissue in a case of JHD.

  3. Burden of Friedreich’s Ataxia to the Patients and Healthcare Systems in the United States and Canada

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    Barbara ePolek

    2013-05-01

    Full Text Available Objective: The study intended to substantiate healthcare resource utilization, costs and funding patterns of US and Canadian Friedreich's Ataxia (FRDA populations, to assess compliance with treatment guidance and to identify areas where novel healthcare measures or improved access to existing care may improve patients’ functional and social capabilities and reduce the financial impact on the healthcare systems. Methods: Healthcare resource utilization and costs were collected in a cross sectional study in the US (N=197 and Canada (N=43 and analyzed across severity of disease categories. Descriptive statistics, correlation analysis and hypothesis testing were applied.Results: In the US, healthcare costs of FRDA patients were higher than those of ‘adults with two and more chronic conditions’. Significantly higher costs were incurred in advanced stages of the disease, with paid homecare being the main driver. This pattern was also observed in Canada. Compliance with the recommended annual neurological and cardiological follow-up was high, but was low for the recommended regular speech therapy. In the US public and private funding ratios were similar for the FRDA and the general populations. In Canada the private funding ratio for FRDA was higher than average. Conclusions: The variety of healthcare measures addressing the broad range of symptoms of FRDA, and the increasing use of paid home care as disease progresses made total US healthcare costs of FRDA exceed the costs of US adults with two and more chronic conditions. Therefore, measures delaying disease progression will allow patients to maintain their independence longer and may reduce costs to the healthcare system. Novel measures to address dysarthria and to ensure access to them should be further investigated. The higher than average private funding ratio in Canada was due to the relatively high cost of the pharmacological treatment of FRDA.

  4. Brain white matter demyelinating lesions and amyotrophic lateral sclerosis in a patient with C9orf72 hexanucleotide repeat expansion.

    Science.gov (United States)

    Oliveira Santos, Miguel; Caldeira, Inês; Gromicho, Marta; Pronto-Laborinho, Ana; de Carvalho, Mamede

    2017-10-01

    A hexanucleotide repeat expansion in the C9orf72 gene is associated with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. It has been described before four patients with multiple sclerosis (MS) and C9orf72-ALS. However, C9orf72 positivity is not associated with increased risk of MS. Inflammatory pathways related to NF-κB have been linked to ALS and MS, and appear to be important in C9orf72-ALS patients. A 42-year-old woman presented with progressive bulbar symptoms for 9 months. Neurological examination disclosed spastic dysarthria, atrophic tongue with fasciculations, brisk jaw and limb tendon reflexes, and bilateral Hoffman sign. Electrophysiological assessment confirmed ALS. Brain MRI revealed multiple and bilateral juxtacortical and periventricular inflammatory changes, some with gadolinium-enhancement, configuring a probable MS-like pattern. CSF evaluation was unremarkable, with no oligoclonal bands. Visual and somatosensory evoked potentials were normal. Follow-up brain MRI 6 months later showed two new lesions in two relatively characteristic locations of MS, with no gadolinium-enhancement. Genetic screening revealed a C9orf72 expansion. As patient had no clinical manifestation of MS, a diagnosis of radiologically isolated syndrome was considered. We speculate that these demyelinating lesions might facilitate expressivity of C9orf72 expansion, through NF-κB activation. This plausible association may lead to the identification of a therapeutic target in this subgroup of C9orf72-ALS patients. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Motor outcome and electrode location in deep brain stimulation in Parkinson's disease.

    Science.gov (United States)

    Koivu, Maija; Huotarinen, Antti; Scheperjans, Filip; Laakso, Aki; Kivisaari, Riku; Pekkonen, Eero

    2018-05-30

    To evaluate the efficacy and adverse effects of subthalamic deep brain stimulation (STN-DBS) in patients with advanced Parkinson's disease (PD) and the possible correlation between electrode location and clinical outcome. We retrospectively reviewed 87 PD-related STN-DBS operations at Helsinki University Hospital (HUH) from 2007 to 2014. The changes of Unified Parkinson's Disease Rating Scale (UPDRS) part III score, Hoehn & Yahr stage, antiparkinson medication, and adverse effects were studied. We estimated the active electrode location in three different coordinate systems: direct visual analysis of MRI correlated to brain atlas, location in relation to the nucleus borders and location in relation to the midcommisural point. At 6 months after operation, both levodopa equivalent doses (LEDs; 35%, Wilcoxon signed-rank test = 0.000) and UPDRS part III scores significantly decreased (38%, Wilcoxon signed-rank test = 0.000). Four patients (5%) suffered from moderate DBS-related dysarthria. The generator and electrodes had to be removed in one patient due to infection (1%). Electrode coordinates in the three coordinate systems correlated well with each other. On the left side, more ventral location of the active contact was associated with greater LED decrease. STN-DBS improves motor function and enables the reduction in antiparkinson medication with an acceptable adverse effect profile. More ventral location of the active contact may allow stronger LED reduction. Further research on the correlation between contact location, clinical outcome, and LED reduction is warranted. © 2018 The Authors. Brain and Behavior published by Wiley Periodicals, Inc.

  6. Diagnosis and management of acute movement disorders.

    Science.gov (United States)

    Dressler, D; Benecke, R

    2005-11-01

    by dysarthria and dystonia and usually respond to phenytoin. In Type 2 they can last for several hours, may be accompanied by vertigo, headache and malaise and usually respond to acetazolamide. Symptomatic episodic ataxias can occur in a number of metabolic disorders, but also in multiple sclerosis and Behcet's disease.

  7. Selective loss of Purkinje cells in a patient with anti-gliadin-antibody-positive autoimmune cerebellar ataxia

    Directory of Open Access Journals (Sweden)

    Hasegawa Akira

    2011-02-01

    Full Text Available Abstract The patient was an 84-year-old woman who had the onset of truncal ataxia at age 77 and a history of Basedow's disease. Her ataxic gait gradually deteriorated. She could not walk without support at age 81 and she was admitted to our hospital at age 83. Gaze-evoked nystagmus and dysarthria were observed. Mild ataxia was observed in all limbs. Her deep tendon reflex and sense of position were normal. IgA anti-gliadin antibody, IgG anti-gliadin antibody, anti-SS-A/Ro antibody, anti-SS-B/La antibody and anti-TPO antibody were positive. A conventional brain MRI did not show obvious cerebellar atrophy. However, MRI voxel based morphometry (VBM and SPECT-eZIS revealed cortical cerebellar atrophy and reduced cerebellar blood flow. IVIg treatment was performed and was moderately effective. After her death at age 85, the patient was autopsied. Neuropathological findings were as follows: selective loss of Purkinje cells; no apparent degenerative change in the efferent pathways, such as the dentate nuclei or vestibular nuclei; no prominent inflammatory reaction. From these findings, we diagnosed this case as autoimmune cerebellar atrophy associated with gluten ataxia. All 3 autopsies previously reported on gluten ataxia have noted infiltration of inflammatory cells in the cerebellum. In this case, we postulated that the infiltration of inflammatory cells was not found because the patient's condition was based on humoral immunity. The clinical conditions of gluten ataxia have not yet been properly elucidated, but are expected to be revealed as the number of autopsied cases increases.

  8. Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia.

    Science.gov (United States)

    Nagao, Shigeto; Yokota, Osamu; Nanba, Reiko; Takata, Hiroshi; Haraguchi, Takashi; Ishizu, Hideki; Ikeda, Chikako; Takeda, Naoya; Oshima, Etsuko; Sakane, Katsuaki; Terada, Seishi; Ihara, Yuetsu; Uchitomi, Yosuke

    2012-12-15

    We report an autopsy case of progressive supranuclear palsy (PSP) that clinically showed only slowly progressive and symmetric upper motor neuron syndrome over a disease course of 12 years. A female patient initially exhibited dysarthria at the age of 65, followed by gait disturbance and dysphagia. Neurological examination at age 67 disclosed pseudobulbar palsy, spastic gait, hyperreflexia, and presence of bilateral Hoffmann and Babinski signs. However, muscle atrophy, weakness, evidence of denervation on electromyography, vertical gaze palsy, parkinsonism, gait freezing, aphasia, speech apraxia, or dementia was not noted throughout the course. She was clinically diagnosed as having motor neuron disease consistent with so-called primary lateral sclerosis. Pathological examination disclosed histopathological features of PSP, including argyrophilic and tau-positive tufted astrocytes, neurofibrillary tangles, coiled bodies, and thread-like processes in the motor cortex and superior frontal gyrus, and to a lesser degree, in the basal ganglia and brain stem nuclei. In addition, severe fibrillary gliosis was noted in the precentral gyrus and corticospinal tract, being consistent with upper motor neuron syndrome observed in this case. No TAR-DNA binding protein 43-positive lesion, FUS pathology, Bunina body, or Lewy body-like hyaline inclusion was noted in the motor cortex or lower motor neurons. These findings suggest that when tau pathology is prominent in the motor cortex but is minimal in the basal ganglia and brain stem nuclei, a PSP case can lack all classic clinical features of PSP and show only slowly progressive upper motor syndrome, consistent with clinical picture of primary lateral sclerosis. Copyright © 2012 Elsevier B.V. All rights reserved.

  9. RecoverNow: Feasibility of a Mobile Tablet-Based Rehabilitation Intervention to Treat Post-Stroke Communication Deficits in the Acute Care Setting.

    Science.gov (United States)

    Mallet, Karen H; Shamloul, Rany M; Corbett, Dale; Finestone, Hillel M; Hatcher, Simon; Lumsden, Jim; Momoli, Franco; Shamy, Michel C F; Stotts, Grant; Swartz, Richard H; Yang, Christine; Dowlatshahi, Dar

    2016-01-01

    Approximately 40% of patients diagnosed with stroke experience some degree of aphasia. With limited health care resources, patients' access to speech and language therapies is often delayed. We propose using mobile-platform technology to initiate early speech-language therapy in the acute care setting. For this pilot, our objective was to assess the feasibility of a tablet-based speech-language therapy for patients with communication deficits following acute stroke. We enrolled consecutive patients admitted with a stroke and communication deficits with NIHSS score ≥1 on the best language and/or dysarthria parameters. We excluded patients with severe comprehension deficits where communication was not possible. Following baseline assessment by a speech-language pathologist (SLP), patients were provided with a mobile tablet programmed with individualized therapy applications based on the assessment, and instructed to use it for at least one hour per day. Our objective was to establish feasibility by measuring recruitment rate, adherence rate, retention rate, protocol deviations and acceptability. Over 6 months, 143 patients were admitted with a new diagnosis of stroke: 73 had communication deficits, 44 met inclusion criteria, and 30 were enrolled into RecoverNow (median age 62, 26.6% female) for a recruitment rate of 68% of eligible participants. Participants received mobile tablets at a mean 6.8 days from admission [SEM 1.6], and used them for a mean 149.8 minutes/day [SEM 19.1]. In-hospital retention rate was 97%, and 96% of patients scored the mobile tablet-based communication therapy as at least moderately convenient 3/5 or better with 5/5 being most "convenient". Individualized speech-language therapy delivered by mobile tablet technology is feasible in acute care.

  10. Multiple systemic embolism in infective endocarditis underlying in Barlow's disease.

    Science.gov (United States)

    Yu, Ziqing; Fan, Bing; Wu, Hongyi; Wang, Xiangfei; Li, Chenguang; Xu, Rende; Su, Yangang; Ge, Junbo

    2016-08-11

    Systemic embolism, especially septic embolism, is a severe complication of infective endocarditis (IE). However, concurrent embolism to the brain, coronary arteries, and spleen is very rare. Because of the risk of hemorrhage or visceral rupture, anticoagulants are recommended only if an indication is present, e.g. prosthetic valve. Antiplatelet therapy in IE is controversial, but theoretically, this therapy has the potential to prevent and treat thrombosis and embolism in IE. Unfortunately, clinical trial results have been inconclusive. We describe a previously healthy 50-year-old man who presented with dysarthria secondary to bacterial endocarditis with multiple cerebral, coronary, splenic, and peripheral emboli; antibiotic therapy contributed to the multiple emboli. Emergency splenectomy was performed, with subsequent mitral valve repair. Pathological examination confirmed mucoid degeneration and mitral valve prolapse (Barlow's disease) as the underlying etiology of the endocardial lesion. Continuous antibiotics were prescribed, postoperatively. Transthoracic echocardiography at 1.5, 3, and 6 months after the onset of his illness showed no severe regurgitation, and there was no respiratory distress, fever, or lethargy during follow-up. Although antibiotic use in IE carries a risk of septic embolism, these drugs have bactericidal and antithrombotic benefits. It is important to consider that negative blood culture and symptom resolution do not confirm complete elimination of bacteria. However, vegetation size and Staphylococcus aureus infection accurately predict embolization. It is also important to consider that bacteria can be segregated from the microbicide when embedded in platelets and fibrin. Therefore, antimicrobial therapy with concurrent antiplatelet therapy should be considered carefully.

  11. A rare case of concomitant sicca keratopathy and ipsilateral central facial palsy in Wallenberg’s dorsolateral medullary syndrome

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    De Bruyn, Deborah

    2017-03-01

    Full Text Available Objective: To describe a patient with a right-sided supranuclear facial palsy and concomitant sicca keratopathy of the right eye following right-sided dorsolateral medullary infarction. Methods: Our patient underwent a complete ophthalmologic and neurologic examination including biomicroscopy, fundus examination, cranial nerve examination, Shirmer I test, and magnetic resonance imaging of the brain.Results: A 61-year-old woman presented in emergency with a central facial nerve palsy on the right side and truncal ataxia. Neurologic assessment revealed a concurrent dysphagia, dysarthria, hypoesthesia of the right face, and weakness of the right upper limb. Magnetic resonance imaging of the brain showed an old left-sided cerebellar infarction, but a recent ischemic infarction at the level of the right dorsolateral medulla oblongata was the cause of our patient’s current problems. One month after diagnosis of the right-sided dorsolateral medullary syndrome, there were complaints of ocular irritation and a diminished visual acuity in the right eye. Biomicroscopy showed a sicca keratopathy with nearly complete absence of tear secretion on the Shirmer I test, but with normal eye closure and preserved corneal reflexes and sensitivity.Conclusion: A dorsolateral medullary syndrome can have a variable expression in symptomatology. Our case is special because of the combination of an ipsilateral supranuclear facial palsy with normal upper facial muscle function together with an ipsilateral sicca keratopathy as a result of a nearly absent tear secretion. We hypothesized that the mechanism underlying the patient’s sicca keratopathy ipsilateral to the supranuclear facial palsy involved the superior salivatory nucleus, which is situated in the caudal pons inferiorly of the motor facial nucleus and is most probably affected by a superior extension of the infarcted area in the right medulla oblongata.

  12. Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone.

    Science.gov (United States)

    Tabarki, Brahim; Alfadhel, Majid; AlShahwan, Saad; Hundallah, Khaled; AlShafi, Shatha; AlHashem, Amel

    2015-09-01

    To compare the combination of biotin plus thiamine to thiamine alone in treating patients with biotin-responsive basal ganglia disease in an open-label prospective, comparative study. twenty patients with genetically proven biotin-responsive basal ganglia disease were enrolled, and received for at least 30 months a combination of biotin plus thiamine or thiamine alone. The outcome measures included duration of the crisis, number of recurrence/admissions, the last neurological examination, the severity of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), and the brain MRI findings during the crisis and after 30 months of follow-up. Ten children with a mean age of 6 years(1/2) were recruited in the biotin plus thiamine group (group 1) and ten children (6 females and 4 males) with a mean age of 6 years and 2 months were recruited in the thiamine group (group 2). After 2 years of follow-up treatment, 6 of 20 children achieved complete remission, 10 had minimal sequelae in the form of mild dystonia and dysarthria (improvement of the BFMDRS, mean: 80%), and 4 had severe neurologic sequelae. All these 4 patients had delayed diagnosis and management. Regarding outcome measures, both groups have a similar outcome regarding the number of recurrences, the neurologic sequelae (mean BFMDS score between the groups, p = 0.84), and the brain MRI findings. The only difference was the duration of the acute crisis: group 1 had faster recovery (2 days), versus 3 days in group 2 (p = 0.005). Our study suggests that over 30 months of treatment, the combination of biotin plus thiamine is not superior to thiamine alone in the treatment of biotin-responsive basal ganglia disease. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  13. Clinical recognition and management of amyotrophic lateral sclerosis: the nurse's role.

    Science.gov (United States)

    Clarke, Kathie; Levine, Todd

    2011-08-01

    Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, causes a progressive wasting and loss of the upper and lower motor neurons that facilitate the movement of body parts. At onset, ALS patients may show symptoms such as muscle weakness, atrophy, hyperreflexia, or bulbar symptoms such as dysphagia or dysarthria. Deterioration progresses rapidly, and the later stages of ALS are characterized by severely limited mobility and respiratory failure, which is the primary cause of death. There is no specific diagnostic test for ALS, and there are a number of other conditions that may resemble ALS, making a diagnosis difficult. The variability of the initial presentation combined with the broad differential diagnosis may result in significant delays in diagnosis or, in some cases, misdiagnosis, which in turn have a negative impact on patient outcomes. There is no cure for ALS; however, many of the symptoms are treatable, and the physical and psychological symptoms are best managed through the efforts of a coordinated, multidisciplinary team. Nurses play a critical role in the clinical management of ALS and may be involved in coordinating the activities of the team, facilitating treatment, and helping patients and caregivers in making informed treatment and end-of-life decisions. Drug therapy for ALS is currently limited to riluzole; however, patients may be treated with a number of nonpharmacologic methods on the basis of their symptoms. A number of other treatment modalities, such as stem-cell-based therapy or gene therapy, and an array of neuroprotective clinical trials are currently under development for the treatment of ALS. Nurses may also have a key role in these various ALS studies.

  14. 9q22 Deletion - First Familial Case

    Directory of Open Access Journals (Sweden)

    Yamamoto Toshiyuki

    2011-06-01

    Full Text Available Abstract Background Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400 due to haploinsufficiency of the PTCH1 gene (MIM *601309. Methods and Results We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K. The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337 which causing both brachydactyly type 1 (MIM #113000 and Robinow syndrome (MIM #268310, and the immunologically active SYK gene (MIM *600085. The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. Conclusions This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling.

  15. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI

    International Nuclear Information System (INIS)

    Leiros da Costa, Maria do Desterro; Spitz, Mariana; Bacheschi, Luiz Alberto; Barbosa, Egberto Reis; Leite, Claudia Costa; Lucato, Leandro Tavares

    2009-01-01

    Brain magnetic resonance imaging (MRI) studies on Wilson's disease (WD) show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: d-penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. (orig.)

  16. Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

    Directory of Open Access Journals (Sweden)

    Relu Cocoş

    Full Text Available Wilson's disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment factors on phenotypic expression among the affected patients. We conducted clinical and genetic investigations to perform genotype-phenotype correlation in two large families living in a socio-culturally isolated community with the highest prevalence of Wilson's disease ever reported of 1 ∶ 1130. Sequencing of ATP7B gene in seven affected individuals and 43 family members identified a common compound heterozygous genotype, H1069Q/M769H-fs, in five symptomatic and two asymptomatic patients and detected the presence of two out of seven identified single nucleotide polymorphisms in all affected patients. Symptomatic patients had similar clinical phenotype and age at onset (18 ± 1 years showing dysarthria and dysphagia as common clinical features at the time of diagnosis. Moreover, all symptomatic patients presented Kayser-Fleischer rings and lack of dystonia accompanied by unfavourable clinical outcomes. Our findings add value for understanding of genotype-phenotype correlations in Wilson's disease based on a multifamily study in an isolated population with high extent of genetic and environmental homogeneity as opposed to majority of reports. We observed an equal influence of presumed other genetic modifiers and environmental factors on clinical presentation and age at onset of Wilson's disease in patients with a particular genotype. These data provide valuable inferences that could be applied for predicting clinical management in asymptomatic patients in such communities.

  17. A study of low-density areas, clinical findings, and angiographic findings in patients with cerebral infarction

    International Nuclear Information System (INIS)

    Saiki, Iwao; Sakai, Yoshiaki; Oikawa, Tadato; Koide, Kohji; Kanaya, Haruyuki.

    1978-01-01

    55 out of 62 patients with cerebral infarction were investigated in terms of CT scan findings, angiographic findings, and clinical symptoms. The results obtained were as follows: 1) The low-density areas of the CT scan findings were classified into the following four types: large hemispheric or lobular --Type I; wedge-shaped --Type II; small --Type III; and lacunar low-density area. --Type IV. 2) Almost all patients with angiographically occlusive findings showed low-density areas of Type I; however, one patient with ICA occlusion revealed only a lacunar low-density area. 3) The patients with lacunar low-density areas showed an angiographically delayed filling of the angular artery and posterior parietal artery of the middle cerebral artery. 4) The relationship between the types of low-density areas and the clinical conscious disorders was not clear. On the other hand, the patients with Type I low-density areas almost all had motor disturbances, while patients with other types of low-density areas showed only 60 - 70% motor disturbances. 5) In patients with speech disorders, total aphasia cases were found in patients with large hemispheric low-density areas on the left side. Although, motor aphasia cases were seen in patients with various low-density areas on the left inferior frontal and precentral gyri, dysarthria cases were found in the patients with several low-density areas on both sides. 6) The localization of lacunar low-density areas seemed to be near the caudate nucleus on the right side and in the putaminal regions on the left side. The mean and the standard deviation of CT numbers in the lacunar low-density areas showed higher values on the right side than on the left side. (author)

  18. Exploration of cervical carotid stenosis using helical CT angiography. A prospective trial on the detection of candidates for surgery in the Gujo area, Gifu

    International Nuclear Information System (INIS)

    Yamakawa, Hiroyasu; Sumi, Yasuhiko; Kaku, Yasuhiko; Sakai, Noboru; Yamada, Hiromu.

    1995-01-01

    To detect cervical carotid stenosis as a candidate for carotid endarterectomy (CEA), the authors attempted a prospective trial by exploring stenosis for one year in a rural district with a population of 20,000, employing helical CT angiography which apparently displayed three-dimensional reconstructed images of the carotid bifurcation. Thirty-three patients, 24 males and 9 females, with a mean age of 71.8 years, suffering from TIA, RIND or stroke were investigated for their carotid systems. The clinical symptoms of the patients were briefly as follows: motor weakness in 30 cases, dysarthria in 8 cases and aphasia in 4 cases; and 6 of 22 (27%) stroke cases had previously suffered an episode of TIA. The risk factors of the whole group of patients were hypertension in 13 cases, diabetes mellitus in 6, heart disease in 17, and hypercholesteremia in 4. Helical CT angiography was performed in 11 cases of TIA, 2 cases of RIND, and 16 cases of stroke. Only 3 cases of the TIA group and 3 cases of the stroke group were found to have extracranial carotid stenosis of more than 50%, which subsequently required conventional angiography. For the detection of stenosis, CT angiography was beneficial as well as conventional angiography. Finally, CEA was performed in 2 of 3 cases with severe carotid stonosis in the TIA group, while such cases in the stroke group were only observed. The above results meant that the occurrence of extracranial carotid stenosis was 6 out of 6,589 elderly inhabitants (over 60 years old), although the possible detection rate of candidates for CEA was 2 out of 20,000 population per year. (author)

  19. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

    Science.gov (United States)

    Armour, Christine M; Smith, Amanda; Hartley, Taila; Chardon, Jodi Warman; Sawyer, Sarah; Schwartzentruber, Jeremy; Hennekam, Raoul; Majewski, Jacek; Bulman, Dennis E; Suri, Mohnish; Boycott, Kym M

    2016-07-01

    In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature. No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified. Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature. A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. The findings show that these individuals have multiple different etiologies giving rise to a similar phenotype, and that "Fitzsimmons syndrome" is in fact not one single syndrome. Over time, we anticipate that continued careful phenotyping with concomitant genome-wide analysis will continue to identify the causes of many rare syndromes, but it will also highlight that previously delineated clinical entities are, in fact, not syndromes at all. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  20. Twelve clinically significant points in medulloblastoma

    International Nuclear Information System (INIS)

    Sugiyama, Kazuhiko; Yamasaki, Fumiyuki; Kajiwara, Yoshinori; Watanabe, Yosuke; Takayasu, Takeshi; Kurisu, Kaoru

    2011-01-01

    Though medulloblastoma is the most common malignant brain tumor during childhood, only 80 newly-diagnosed tumors develos every year, as the annual incidence is extremely rare with an occurrence of 0.5 per 100,000 children younger than 15-year-old and of 0.7 per 100,000 for the entire population. Images obtained of medulloblastoma are characterized by a round heterogeously-enhanced mass in or adjacent to the VIth ventricle. Objectives of surgical treatment are the maximum resectioning of the main mass and the relief of the obstructive hydrocephalus. Cerebellar mutism occurs a few days after one fourth of medulloblastoma surgery, and lasts approximately for 50 days followed by subsequent dysarthria. Pathological subtypes include classic medulloblastoma, desmoplastic/nodular medulloblastoma, medulloblastoma with extensive nodularity, large cell/anaplastic medulloblastoma, all corresponding to World Health Organization (WHO) grade IV. According to age, residual tumor size, and disseminated staging, patients are divided into average-risk group, high-risk group, or baby-medulloblastoma after surgery. Standard treatment in average-risk group includes 23.4-Gy cranio-spinal irradiation (CSI) with posterior boost followed by chemotherapy consisting of cisplatin (CDDP), alkylating agents, and vincristine. Patients in high-risk group receive over 36-Gy CSI with boost radiotherapy to nodular lesions before, concomitantly with, or followed by dose-intensity chemotherapy. In cases with gross total removal, or desmoplastic/nodular pathology radiotherapy for patients younger than 3-year-old are often delayed until they turn 3-year-old, and are able to survive for long time by appropriate chemotherapy alone. Adolescent survivors with childhood medulloblastoma have a number of late adverse effects regarding another neoplasm, neuro-cognitive function, endocrine activity, cardiovascular organs, and skeletal system. Comprehensive follow-up and support system are mandatory. (author)

  1. A case of dysphagia induced by irradiation to the neck

    International Nuclear Information System (INIS)

    Ito, Hiroyuki; Kubota, Akira; Moriyama, Hiroshi.

    1995-01-01

    This report deals with a case of dysphagia induced by the irradiation of a malignant lymphoma of the neck. The patient was a 55-year-old male with dysphagia who had undergone irradiation to the neck for a malignant lymphoma ten years previously. The dysphagia that had gradually worsened in ten years made him enable to eat and drink orally. He often contracted by pneumonia. On first examination, atrophic changes were observed in the soft palates, and the epiglottis, and the improvement of the tongue was bilaterally impaired. These findings were diagnosed as the causes of the dysphagia. A barium study showed that the movement of the tongue and the pharynx were impaired. The barium was aspirated. A plain X-ray film of the mandible showed ostitis. The impairment of the tongue movement was due to bilateral hypopharyngeal nerve palsies induced by the irradiation. Laryngeal suspension and cricopharyngeal myotomy were not suitable because they could have aggravated the radiation necrosis of the thyroid cartilage which will be expected in the future. A total laryngectomy, which sacrifies the phonation, was out of the question, because the patient's dysarthria was not so hard to understand. He was instructed in the self-insertion of a feeding tube to get enough nutrition, the physical therapy of the lung with the aid of his wife to prevent aspiration pneumonia. The loss of phonation lowers the QOL of such patients. In the cases with dysphagia which do not recover with surgical treatments, rehabilitation should mainly stress the conservation of phonation and the prevention of pneumonia to maintain the higher QOL of patients. (author)

  2. Case of traumatic MLF syndrome with a CT demonstration of a small hemorrhagic legion

    Energy Technology Data Exchange (ETDEWEB)

    Ban, S.; Ogata, M.; Miyamoto, T.; Tabuchi, T. (Kobe Municipal Central Hospital (Japan))

    1981-12-01

    We report a case who developed internuclear ophthalmoplegia as a result of a closed head injury. A CT scan (Delta scan 50 FSII) demonstrated a small hemorrhage (9 x 12 mm. on actual measurement) in the dorsum of the upper pons. The patient is a 40-year-old male who fell backward while chasing a fly ball, striking the back of the head. He was rendered unconcious for some ten minutes. Upon admission, mild impairment of the adduction of both eye-balls was noted; 10 hours later this became more obvious, along with cerebellar ataxia, mild dysarthria, and paresthesia of the face. A CT scan obtained immediately after admission revealed an area of increased density compatible with a hemorrhage in the dorsum of the upper pons. A follow-up CT scan on the 12th hospital day revealed a complete resolution of the initially noted high-density in the upper pons, and 2 weeks following admission, the above-noted signs started to improve. Two and a half months following the injury he returned to work as a printer, although a detailed neuro-otological examination done 29 months after the injury still demonstrated evidence of bilateral internuclear ophthalmoplegia. To the author's knowledge, only 13 cases of traumatic 'MLF syndrome' have been reported so far, and our case is the first in which a CT scan indeed demonstrated the lesion. The details of the case are presented, along with the results of the neuro-otological evaluation.

  3. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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    Huang Lijia

    2012-09-01

    Full Text Available Abstract Background Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in one large Australian family and this locus was designated spinocerebellar ataxia type 29. The objective of this study is to describe an unreported Canadian family with autosomal dominant congenital nonprogressive spinocerebellar ataxia and to identify the underlying genetic causes in this family and the original Australian family. Methods and Results Exome sequencing was performed for the Australian family, resulting in the identification of a heterozygous mutation in the ITPR1 gene. For the Canadian family, genotyping with microsatellite markers and Sanger sequencing of ITPR1 gene were performed; a heterozygous missense mutation in ITPR1 was identified. Conclusions ITPR1 encodes inositol 1,4,5-trisphosphate receptor, type 1, a ligand-gated ion channel that mediates calcium release from the endoplasmic reticulum. Deletions of ITPR1 are known to cause spinocerebellar ataxia type 15, a distinct and very slowly progressive form of cerebellar ataxia with onset in adulthood. Our study demonstrates for the first time that, in addition to spinocerebellar ataxia type 15, alteration of ITPR1 function can cause a distinct congenital nonprogressive ataxia; highlighting important clinical heterogeneity associated with the ITPR1 gene and a significant role of the ITPR1-related pathway in the development and maintenance of the normal functions of the cerebellum.

  4. A rare case of neuroleptic malignant syndrome presenting with serious hyperthermia treated with a non-invasive cooling device: a case report

    Directory of Open Access Journals (Sweden)

    Storm Christian

    2009-02-01

    in these cases with varying outcomes. In our case the only residual impairment for the patient is dysarthria with corresponding symmetric cerebellar pyramidal cell destruction demonstrated by increased signal intensity in T2-weighted magnetic resonance imaging, most likely caused by the excessive hyperthermia.

  5. Clinicoradiological study on 59 patients with pure motor hemiparesis due to corona radiata infarcts

    International Nuclear Information System (INIS)

    Nagaoka, Tetsuro; Kawabe, Kiyokazu; Ito, Hirono; Ikeda, Ken

    2009-01-01

    To evaluate the clinicoradiological findings of patients with small infarction at the level of the corona radiata, such patients were divided into three groups: Group A (facio-lingual weakness), Group B (arm-dominant weakness) and Group C (leg-dominant weakness). The anteroposterior position and maximum diameter of the radiata infarcts were assessed by axial T2-weighted imaging. In total, 59 consecutive patients (42 men and 17 women) were selected. The frequency of radiata infarct is 9.4% among cerebral infarct patients. The male/female ratio was 1.3. The mean age (SD) was 68.9 (9.5) years. The number of patients was 23 in Group A, 19 in Group B and 17 in Group C. Group B patients needed aid in their daily life, when compared to Group A and Group C. The cerebrovascular risk profiles demonstrated hypertension in 43 patients (72.9%), diabetes mellitus in 15 (25.4%), current smoking in 22 (37.3%), dyslipidemia in 16 (27.1%) and arterial fibrillation in 11 (18.6%). The clinical subtypes revealed 48 patients with lacunar infarct and 11 with cardiogenic emboli. The somatotopical distribution of motor fibers of Groups A to C was arranged in antero-posterior order. There were 24 patients with right lesions and 35 with left lesions. The size of the left infarcts was significantly smaller than that of the right infarcts. The clinical outcome of patients with arm-dominant weakness was relatively poor as compared to that of patients with dysarthria or leg-dominant weakness. The neuroradiological data suggest that left radiata infarct is smaller and more frequent than right infarct. (author)

  6. Clinicoradiological study on 59 patients with pure motor hemiparesis due to corona radiata infarcts

    Energy Technology Data Exchange (ETDEWEB)

    Nagaoka, Tetsuro; Kawabe, Kiyokazu; Ito, Hirono; Ikeda, Ken [Toho Univ., Omori Medical Center, Tokyo (Japan)

    2009-07-15

    To evaluate the clinicoradiological findings of patients with small infarction at the level of the corona radiata, such patients were divided into three groups: Group A (facio-lingual weakness), Group B (arm-dominant weakness) and Group C (leg-dominant weakness). The anteroposterior position and maximum diameter of the radiata infarcts were assessed by axial T2-weighted imaging. In total, 59 consecutive patients (42 men and 17 women) were selected. The frequency of radiata infarct is 9.4% among cerebral infarct patients. The male/female ratio was 1.3. The mean age (SD) was 68.9 (9.5) years. The number of patients was 23 in Group A, 19 in Group B and 17 in Group C. Group B patients needed aid in their daily life, when compared to Group A and Group C. The cerebrovascular risk profiles demonstrated hypertension in 43 patients (72.9%), diabetes mellitus in 15 (25.4%), current smoking in 22 (37.3%), dyslipidemia in 16 (27.1%) and arterial fibrillation in 11 (18.6%). The clinical subtypes revealed 48 patients with lacunar infarct and 11 with cardiogenic emboli. The somatotopical distribution of motor fibers of Groups A to C was arranged in antero-posterior order. There were 24 patients with right lesions and 35 with left lesions. The size of the left infarcts was significantly smaller than that of the right infarcts. The clinical outcome of patients with arm-dominant weakness was relatively poor as compared to that of patients with dysarthria or leg-dominant weakness. The neuroradiological data suggest that left radiata infarct is smaller and more frequent than right infarct. (author)

  7. Pigmented Creatine Deposits in Amyotrophic Lateral Sclerosis Central Nervous System Tissues Identified by Synchrotron Fourier Transform Infrared Microspectroscopy and X-ray Fluorescence Spectromicroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Kastyak, M.; Szczerbowska-Boruchowska, M; Adamek, D; Tomik, B; Lankosz, M; Gough, K

    2010-01-01

    Amyotrophic Lateral Sclerosis (ALS) is an untreatable, neurodegenerative disease of motor neurons characterized by progressive muscle atrophy, limb paralysis, dysarthria, dysphagia, dyspnae and finally death. Large motor neurons in ventral horns of spinal cord and motor nuclei in brainstem, large pyramidal neurons of motor cortex and/or large myelinated axons of corticospinal tracts are affected. In recent synchrotron Fourier Transform Infrared microspectroscopy (sFTIR) studies of ALS CNS autopsy tissue, we discovered a small deposit of crystalline creatine, which has a crucial role in energy metabolism. We have now examined unfixed, snap frozen, post-autopsy tissue sections of motor cortex, brain stem, spinal cord, hippocampus and substantia nigra from six ALS and three non-degenerated cases with FTIR and micro-X-ray fluorescence (XRF). Heterogeneous pigmented deposits were discovered in spinal cord, brain stem and motor neuron cortex of two ALS cases. The FTIR signature of creatine has been identified in these deposits and in numerous large, non-pigmented deposits in four of the ALS cases. Comparable pigmentation and creatine deposits were not found in controls or in ALS hippocampus and substantia nigra. Ca, K, Fe, Cu and Zn, as determined by XRF, were not correlated with the pigmented deposits; however, there was a higher incidence of hot spots (Ca, Zn, Fe and Cu) in the ALS cases. The identity of the pigmented deposits remains unknown, although the absence of Fe argues against both erythrocytes and neuromelanin. We conclude that elevated creatine deposits may be indicators of dysfunctional oxidative processes in some ALS cases.

  8. Characterizing a neurodegenerative syndrome: primary progressive apraxia of speech.

    Science.gov (United States)

    Josephs, Keith A; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Senjem, Matthew L; Master, Ankit V; Lowe, Val J; Jack, Clifford R; Whitwell, Jennifer L

    2012-05-01

    Apraxia of speech is a disorder of speech motor planning and/or programming that is distinguishable from aphasia and dysarthria. It most commonly results from vascular insults but can occur in degenerative diseases where it has typically been subsumed under aphasia, or it occurs in the context of more widespread neurodegeneration. The aim of this study was to determine whether apraxia of speech can present as an isolated sign of neurodegenerative disease. Between July 2010 and July 2011, 37 subjects with a neurodegenerative speech and language disorder were prospectively recruited and underwent detailed speech and language, neurological, neuropsychological and neuroimaging testing. The neuroimaging battery included 3.0 tesla volumetric head magnetic resonance imaging, [(18)F]-fluorodeoxyglucose and [(11)C] Pittsburg compound B positron emission tomography scanning. Twelve subjects were identified as having apraxia of speech without any signs of aphasia based on a comprehensive battery of language tests; hence, none met criteria for primary progressive aphasia. These subjects with primary progressive apraxia of speech included eight females and four males, with a mean age of onset of 73 years (range: 49-82). There were no specific additional shared patterns of neurological or neuropsychological impairment in the subjects with primary progressive apraxia of speech, but there was individual variability. Some subjects, for example, had mild features of behavioural change, executive dysfunction, limb apraxia or Parkinsonism. Voxel-based morphometry of grey matter revealed focal atrophy of superior lateral premotor cortex and supplementary motor area. Voxel-based morphometry of white matter showed volume loss in these same regions but with extension of loss involving the inferior premotor cortex and body of the corpus callosum. These same areas of white matter loss were observed with diffusion tensor imaging analysis, which also demonstrated reduced fractional anisotropy

  9. Rate of Speech and Reading in Second and Fifth Grade Primary Students in Tehran

    Directory of Open Access Journals (Sweden)

    Hourieh Ahadi

    2007-12-01

    Full Text Available Background and Aim: The purpose of this research is to study the standardization of speaking and reading rates in a group of normal speaker of female students, and to compare them. As the rate of speech is an important variable in the evaluation and treatment of stuttering, cluttering, dysarthria and apraxia. Materials and Method: One hundred of second grade students of primary school and an equal number of fifth grade students participated in this study. All subjects were native speakers of Farsi, who passed an informal, screening test of articulation and speech. None of the subjects had a history of speech, hearing, or neurological disorders. The subjects were asked to read from the 180 words portion of their Farsi book and tell story. Their speech was recorded by using a tape recorder. Then the data were analyzed for word and syllable rate. In transcribing the samples, single morpheme was counted as single word and compound words were counted as two words if they had two free morphemes. Non-word interjections were excluded from word and syllable counts while word interjections and repeated words were included in the count. Independent t-test and paired t-test were used for analyzing. Results: In the second grade students the reading rate is, on the average, 189.4 syllable per minute (SPM(94.9 word per minute(WPM, 3.1 syllable per second(SPS and the talking rate is 189.8 SPM (99.1 WPM, 3.1 SPS and in the fifth grade student the reading rate is 223.9 SPM (119.0 WPM, 3.7SPS and the talking rate is 210.26 SPM (109.5 WPM , 3.4 SPS. Conclusion: The result highlight that in the fifth grade students, reading rates are higher than talking rates while in the second grade they are not, because they do not have enough skills for whole word reading. A remarkable finding in this research is that, reading and talking rates in the fifth grade students are higher than the second grade students.

  10. Introdução da comunicação suplementar e alternativa na terapia com afásicos Introduction of augmentative and alternative communication in aphasia therapy

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    Juliana Ferreira Marcolino Galli

    2009-01-01

    Full Text Available Sabe-se que o tratamento fonoaudiológico de pacientes com afasia severa é limitado. A ausência de fala articulada, algumas vezes, impede o diagnóstico da afasia. O paciente "grave" pode não falar devido à inabilidade de articulação, como ocorre na disartria e/ou apraxia. Essa ausência de fala não permite afirmar se a linguagem está comprometida. O uso da comunicação suplementar e alternativa tem sido um método eficaz na reabilitação desses pacientes. Esse estudo visou descrever o uso da comunicação suplementar e alternativa associada a outras modalidades de linguagem (escrita, gestos, a partir do relato de dois casos de afasia. A análise dos dados foi composta por dois blocos: a introdução da comunicação suplementar e alternativa no diálogo; e o uso da leitura e escrita associado aos símbolos. A comunicação suplementar e alternativa foi um apoio para a oralidade, leitura e escrita dos pacientes.It is known that the speech-language treatment of patients with severe aphasia is limited. Sometimes the absence of articulated speech is an obstacle to diagnose the aphasia. The patient with severe aphasia might not speak due to articulation inability, as it occurs in dysarthria and/or apraxia, and the absence of speech makes it difficult for speech-language pathologists to determine whether language is also impaired. The use of augmentative and alternative communication techniques has been an effective method for the rehabilitation of these patients. The aim of this study was to describe the use of the augmentative and alternative communication in therapy associated with other modalities of language (written language, gestures, based on the report of two cases of aphasia. Data analysis had two parts: introduction of augmentative and alternative communication in dialogue; and use of reading and writing associated with symbols. The augmentative and alternative communication supported oral language, reading and writing of the

  11. Communicative strategies used by spouses of individuals with communication disorders related to stroke-induced aphasia and Parkinson's disease.

    Science.gov (United States)

    Carlsson, Emilia; Hartelius, Lena; Saldert, Charlotta

    2014-11-01

    A communicative disability interferes with the affected person's ability to take active part in social interaction, but non-disabled communication partners may use different strategies to support communication. However, it is not known whether similar strategies can be used to compensate for different types of communicative disabilities, nor what factors contribute to the development of a particular approach by communication partners. To develop a set of categories to describe the strategies used by communication partners of adults who have problems expressing themselves due to neurogenic communicative disabilities. The reliability of assessment was a particular focus. The material explored consisted of 21 video-recorded everyday conversations involving seven couples where one spouse had a communicative disability. Three of the dyads included a person with dysarthria and anomia related to later stages of Parkinson's disease, while four of them included a person with stroke-induced aphasia involving anomia. First a qualitative interaction analysis was performed to explore the strategies used by the communication partners when their spouses had problems expressing themselves. The strategies were then categorized, the reliability of the categorizations was explored and the relative frequency of the various strategies was examined. The analysis of the conversational interactions resulted in a set of nine different strategies used by the communication partners without a communicative disability. Each of these categories belonged to one of three overall themes: No participation in repair; Request for clarification or modification; and Providing candidate solutions. The reliability of the categorization was satisfactory. There were no statistically significant differences between diagnoses in the frequency of use of strategies, but the spouses of the persons with Parkinson's disease tended to use open-class initiations of repair more often than the spouses of the persons

  12. Clinical predictors of lacunar syndrome not due to lacunar infarction

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    Comes Emili

    2010-05-01

    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  13. Knowledge and attitudes of allied health professional students regarding the stroke rehabilitation team and the role of the Speech and Language Therapist.

    Science.gov (United States)

    Byrne, Aine; Pettigrew, Catharine M

    2010-01-01

    One of the major barriers to effective team working among healthcare professionals is a lack of knowledge of each other's roles. The importance of understanding Irish healthcare students' attitudes towards team working and each other's roles led to the development of this study. The aims were to investigate allied health professional students' perceptions and experiences of the stroke rehabilitation team and the role of the Speech and Language Therapist (SLT). A survey first developed by Felsher and Ross (1994) and further developed by Insalaco et al. (2007) was adapted to the Irish healthcare setting. The survey was administered to final-year Occupational Therapy (n = 23), Speech and Language Therapy (21) students and Physiotherapy (20) students (64 in total) (a 98.5% response rate). Results indicate that students had a good understanding of teamwork in the healthcare setting and the possible benefits and challenges it presents. Students had a strong appreciation for interprofessional collaboration, with the majority (79%) choosing shared leadership as their preferred option for the stroke rehabilitation team. Further to this, the team approaches that students felt were most appropriate for the stroke rehabilitation setting were the more collaborative approaches of interdisciplinary (43.5%) and transdisciplinary (37.1%). The students had clear perceptions of the SLT's role in aphasia, dysphagia, dysarthria, apraxia and auditory agnosia, but were less knowledgeable of the SLT's role in the acquired disorders of alexia and agraphia (p < 0.05). More than half of all students perceived that the SLT is involved in the treatment of hemispatial neglect (55.5%), depression (71.5%) and visual agnosia (59.4%). The results provide valuable information for further developments in interprofessional education at an undergraduate level. Further opportunities should be provided to students to collaborate with each other, particularly in their final year of training as, by then

  14. Multimodal responses induced by cortical stimulation of the parietal lobe: a stereo-electroencephalography study.

    Science.gov (United States)

    Balestrini, Simona; Francione, Stefano; Mai, Roberto; Castana, Laura; Casaceli, Giuseppe; Marino, Daniela; Provinciali, Leandro; Cardinale, Francesco; Tassi, Laura

    2015-09-01

    The functional complexity of the parietal lobe still represents a challenge for neurophysiological and functional neuroimaging studies. While the somatosensory functions of the anterior parietal cortex are well established, the posterior parietal cortex has a relevant role in processing the sensory information, including visuo-spatial perception, visual attention, visuo-motor transformations and other complex and not completely understood functions. We retrospectively analysed all the clinical manifestations induced by intracerebral bipolar electrical stimulation in 172 patients suffering from drug-resistant focal epilepsy (mean age 25.6, standard deviation 11.6; 44% females and 56% males) with at least one electrode stereotactically implanted in the parietal cortex. A total of 1186 electrical stimulations were included in the analysis, of which 88 were subsequently excluded because of eliciting pathological electric activity or inducing ictal symptomatology. In the dominant parietal lobe, clinical responses were observed for 56 (25%) of the low-frequency stimulations and for 76 (50%) of the high-frequency stimulations. In the non-dominant parietal lobe, 111 (27%) low-frequency and 176 (55%) high-frequency stimulations were associated with a clinical response. Body scheme alteration was the only clinical effect showing a lateralization, as they were evoked only in the non-dominant hemisphere. The occurrence of somatosensory sensations, motor symptoms, dysarthria and multimodal responses were significantly associated with stimulation of the postcentral gyrus (odds ratio: 5.83, P < 0.001; odds ratio: 8.77, P < 0.001; odds ratio: 5.44, P = 0.011; odds ratio: 8.33, P = 0.006; respectively). Stimulation of the intraparietal sulcus was associated with the occurrence of sensory illusions or hallucinations (odds ratio: 8.68, P < 0.001) and eyeball/eyelid movements or sensations (odds ratio: 4.35, P = 0.047). To our knowledge, this is the only currently available complete

  15. Recurrent abdominal pain: when an epileptic seizure should be suspected? Dor abdominal recorrente: quando suspeitar de crise epiléptica?

    Directory of Open Access Journals (Sweden)

    Renata C. Franzon

    2002-09-01

    Full Text Available Recurrent episodes of abdominal pain are common in childhood. Among the diagnostic possibilities are migraine and abdominal epilepsy (AE. AE is an infrequent syndrome with paroxystic episodes of abdominal pain, awareness disturbance, EEG abnormalities and positive results with the introduction of antiepileptic drugs. We present one 6 year-old girl who had short episodes of abdominal pain since the age of 4. The pain was followed by cry, fear and occasionally secondary generalization. MRI showed tumor in the left temporal region. As a differential diagnosis, we report a 10 year-old boy who had long episodes of abdominal pain accompanied by blurring of vision, vertigo, gait ataxia, dysarthria, acroparesthesias and vomiting. He received the diagnosis of basilar migraine. In our opinion, AE is part of a large group (partial epilepsies and does not require a special classification. Pediatric neurologists must be aware of these two entities that may cause abdominal pain.Episódios recorrentes de dor abdominal são freqüentes na infância e entre as causas neurológicas há migrânea e epilepsia abdominal (EA. EA é uma síndrome que consiste de episódios paroxísticos de dor abdominal associada à alteração de consciência, anormalidades eletrencefalográficas e boa resposta à terapia anticonvulsivante. Apresentamos uma menina de 6 anos que tinha desde os 4 anos episódios de curta duração de dor abdominal, seguidos por choro, medo e ocasional generalização secundária. A RM mostrou a presença de um tumor em região temporal esquerda. Como diagnóstico diferencial, apresentamos um menino de 10 anos que há 12 meses referia episódios de dor abdominal de longa duração acompanhados por turvação visual, vertigem, marcha atáxica, disartria, acroparestesia e vômito, recebendo posteriormente o diagnóstico de migrânia basilar. Em nossa opinião, EA faz parte de um grande grupo (epilepsias parciais e não requer uma classificação especial

  16. Mutism: elective or selective, and acquired.

    Science.gov (United States)

    Gordon, N

    2001-03-01

    When a child does not speak, this may be because there is no wish to do so (elective or selective mutism), or the result of lesions in the brain, particularly in the posterior fossa. The characteristics of the former children are described, especially their shyness; and it is emphasized that mild forms are quite common and a definitive diagnosis should only be made if the condition is significantly affecting the child and family. In the case of mutism due to organic causes, the commonest of these is trauma to the cerebellum. Operations on the cerebellum to remove tumours can be followed by mutism, often after an interval of a few days, and it may last for several months or longer, to be followed by dysarthria. Other rarer causes are discussed, and also the differential diagnosis. The so-called posterior fossa syndrome consists of mutism combined with ataxia, cranial nerve palsies, bulbar palsies, hemiparesis, cognitive impairment and emotional lability, but the post-operative symptoms are often dominated by the lack of speech. The most accepted cause for the condition is vascular spasm with involvement of the dentate nucleus and the dentatorubrothalamic tracts to the brain-stem, and subsequently to the cortex. Diaschisis may be involved in causing the loss of higher cerebral functions, and possibly, complicating hydrocephalus. The treatment of elective mutism is reviewed, either using a psychotherapeutic approach or a variety of drugs, or both. These may well be ineffective, and it must be remembered that the condition often resolves on its own. The former treatment must concentrate on the training of social skills and activities of daily life and must be targeted to both the child, the family, and the school. Also, all kinds of punishment and insistence on speech must be discouraged. The drug, which seems to be most effective, is fluoxetine. Discovering more about the causes of mutism due to organic causes may well depend on studies using such techniques as

  17. A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

    Science.gov (United States)

    Khare, Swati; Nick, Jerelyn A; Zhang, Yalan; Galeano, Kira; Butler, Brittany; Khoshbouei, Habibeh; Rayaprolu, Sruti; Hathorn, Tyisha; Ranum, Laura P W; Smithson, Lisa; Golde, Todd E; Paucar, Martin; Morse, Richard; Raff, Michael; Simon, Julie; Nordenskjöld, Magnus; Wirdefeldt, Karin; Rincon-Limas, Diego E; Lewis, Jada; Kaczmarek, Leonard K; Fernandez-Funez, Pedro; Nick, Harry S; Waters, Michael F

    2017-01-01

    The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3.3). We detail the clinical phenotype of four SCA13 kindreds that confirm causation of the KCNC3R423H allele. The heralding features demonstrate congenital onset with non-progressive, neurodevelopmental cerebellar hypoplasia and lifetime improvement in motor and cognitive function that implicate compensatory neural mechanisms. Targeted expression of human KCNC3R423H in Drosophila triggers aberrant wing veins, maldeveloped eyes, and fused ommatidia consistent with the neurodevelopmental presentation of patients. Furthermore, human KCNC3R423H expression in mammalian cells results in altered glycosylation and aberrant retention of the channel in anterograde and/or endosomal vesicles. Confirmation of the absence of plasma membrane targeting was based on the loss of current conductance in cells expressing the mutant channel. Mechanistically, genetic studies in Drosophila, along with cellular and biophysical studies in mammalian systems, demonstrate the dominant negative effect exerted by the mutant on the wild-type (WT) protein, which explains dominant inheritance. We demonstrate that ocular co-expression of KCNC3R423H with Drosophila epidermal growth factor receptor (dEgfr) results in striking rescue of the eye phenotype, whereas KCNC3R423H expression in mammalian cells results in aberrant intracellular retention of human epidermal growth factor receptor (EGFR). Together, these results indicate that the neurodevelopmental consequences of

  18. Amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Leigh P Nigel

    2009-02-01

    Full Text Available Abstract Amyotrophic lateral sclerosis (ALS is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year and prevalence (average 5.2 per100,000 are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio~1.5:1. Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1–2 years. Paralysis is progressive and leads to death due to respiratory failure within 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. Most ALS cases are sporadic but 5–10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2–5% have mutations of the TARDBP (TDP-43 gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease by appropriate investigations. The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurones and TDP-43

  19. Speech, communication and use of augmentative communication in young people with cerebral palsy: the SH&PE population study.

    Science.gov (United States)

    Cockerill, H; Elbourne, D; Allen, E; Scrutton, D; Will, E; McNee, A; Fairhurst, C; Baird, G

    2014-03-01

    Communication is frequently impaired in young people (YP) with bilateral cerebral palsy (CP). Important factors include motoric speech problems (dysarthria) and intellectual disability. Augmentative and Alternative Communication (AAC) techniques are often employed. The aim was to describe the speech problems in bilateral CP, factors associated with speech problems, current AAC provision and use, and to explore the views of both the parent/carer and young person about communication. A total population of children with bilateral CP (n = 346) from four consecutive years of births (1989-1992 inclusive) with onset of CP before 15 months were reassessed at age 16-18 years. Motor skills and speech were directly assessed and both parent/carer and the young person asked about communication and satisfaction with it. Sixty had died, eight had other conditions, 243 consented and speech was assessed in 224 of whom 141 (63%) had impaired speech. Fifty-two (23% of total YP) were mainly intelligible to unfamiliar people, 22 (10%) were mostly unintelligible to unfamiliar people, 67 (30%) were mostly or wholly unintelligible even to familiar adults. However, 89% of parent/carers said that they could communicate 1:1 with their young person. Of the 128 YP who could independently complete the questions, 107 (83.6%) were happy with their communication, nine (7%) neither happy nor unhappy and 12 (9.4%) unhappy. A total of 72 of 224 (32%) were provided with one or more types of AAC but in a significant number (75% of 52 recorded) AAC was not used at home, only in school. Factors associated with speech impairment were severity of physical impairment, as measured by Gross Motor Function Scale level and manipulation in the best hand, intellectual disability and current epilepsy. In a population representative group of YP, aged 16-18 years, with bilateral CP, 63% had impaired speech of varying severity, most had been provided with AAC but few used it at home for communication. © 2013 John

  20. Anti-N-methyl-D-aspartate receptor(NMDAR) antibody encephalitis presents in atypical types and coexists with neuromyelitis optica spectrum disorder or neurosyphilis.

    Science.gov (United States)

    Qin, Kaiyu; Wu, Wenqing; Huang, Yuming; Xu, Dongmei; Zhang, Lei; Zheng, Bowen; Jiang, Meijuan; Kou, Cheng; Gao, Junhua; Li, Wurong; Zhang, Jinglin; Wang, Sumei; Luan, Yanfei; Yan, Chaoling; Xu, Dan; Zheng, Xinmei

    2017-01-05

    Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a clinically heterogeneous disorder characterized by epileptic seizures, psychosis, dyskinesia, consciousness impairments, and autonomic instability. Symptoms are always various. Sometimes it presents in milder or incomplete forms. We report 4 cases of anti-NMDAR encephalitis with incomplete forms, 3 cases of which were accompanied by neuromyelitis optica spectrum disorder or neurosyphilis respectively. A 33-year-old man presented with dysarthria, movement disorder and occasional seizures. He had 6 relapses in 28 years. When suffered from upper respiratory tract syndrome, he developed behavioral and consciousness impairment. Cranial MRI was normal. Viral PCR studies and oncologic work-up were negative. Anti-NMDAR antibody was detected in CSF and serum. A 21-year-old female manifested dizziness and diplopia ten months and six months before, respectively. Both responded to steroid therapy and improved completely. This time she presented with progressive left limb and facial anesthesia, walking and holding unsteadily. Spinal cord MRI follow-up showed abnormality of medulla oblongata and cervical cord(C1). Anti-AQP4 and anti-NMDAR were positive in CSF. Steroid-pulse therapy ameliorated her symptoms. A 37-year-old male experienced worsening vision. He was confirmed neurosyphilis since the CSF tests for syphilis were positive. Protein was elevated and the oligoclonal IgG bands(OB) and anti-NMDAR was positive in CSF. Anti-aquaporin 4(AQP4) antibodies and NMO-IgG were negative. Cranial MRI showed high FLAIR signal on frontal lobe and low T2 signal adjacent to the right cornu posterious ventriculi lateralis. Treatment for neurosyphlis was commenced with gradual improvement. A 39-year-old male, developed serious behavioral and psychiatric symptoms. Examination showed abnormal pupils and unsteady gait. He was confirmed neurosyphilis according to the CSF tests for syphilis. Anti-NMDAR was positive in CSF and serum

  1. Large arterial occlusive strokes as a medical emergency: need to accurately predict clot location.

    Science.gov (United States)

    Vanacker, Peter; Faouzi, Mohamed; Eskandari, Ashraf; Maeder, Philippe; Meuli, Reto; Michel, Patrik

    2017-10-01

    Endovascular treatment for acute ischemic stroke with a large intracranial occlusion was recently shown to be effective. Timely knowledge of the presence, site, and extent of arterial occlusions in the ischemic territory has the potential to influence patient selection for endovascular treatment. We aimed to find predictors of large vessel occlusive strokes, on the basis of available demographic, clinical, radiological, and laboratory data in the emergency setting. Patients enrolled in ASTRAL registry with acute ischemic stroke and computed tomography (CT)-angiography within 12 h of stroke onset were selected and categorized according to occlusion site. Easily accessible variables were used in a multivariate analysis. Of 1645 patients enrolled, a significant proportion (46.2%) had a large vessel occlusion in the ischemic territory. The main clinical predictors of any arterial occlusion were in-hospital stroke [odd ratios (OR) 2.1, 95% confidence interval 1.4-3.1], higher initial National Institute of Health Stroke Scale (OR 1.1, 1.1-1.2), presence of visual field defects (OR 1.9, 1.3-2.6), dysarthria (OR 1.4, 1.0-1.9), or hemineglect (OR 2.0, 1.4-2.8) at admission and atrial fibrillation (OR 1.7, 1.2-2.3). Further, the following radiological predictors were identified: time-to-imaging (OR 0.9, 0.9-1.0), early ischemic changes (OR 2.3, 1.7-3.2), and silent lesions on CT (OR 0.7, 0.5-1.0). The area under curve for this analysis was 0.85. Looking at different occlusion sites, National Institute of Health Stroke Scale and early ischemic changes on CT were independent predictors in all subgroups. Neurological deficits, stroke risk factors, and CT findings accurately identify acute ischemic stroke patients at risk of symptomatic vessel occlusion. Predicting the presence of these occlusions may impact emergency stroke care in regions with limited access to noninvasive vascular imaging.

  2. Niemann-Pick disease type C

    Directory of Open Access Journals (Sweden)

    Vanier Marie T

    2010-06-01

    Full Text Available Abstract Niemann-Pick C disease (NP-C is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. The neurological involvement defines the disease severity in most patients but is typically preceded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno- or hepatosplenomegaly in infancy or childhood. The first neurological symptoms vary with age of onset: delay in developmental motor milestones (early infantile period, gait problems, falls, clumsiness, cataplexy, school problems (late infantile and juvenile period, and ataxia not unfrequently following initial psychiatric disturbances (adult form. The most characteristic sign is vertical supranuclear gaze palsy. The neurological disorder consists mainly of cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Cataplexy, seizures and dystonia are other common features. NP-C is transmitted in an autosomal recessive manner and is caused by mutations of either the NPC1 (95% of families or the NPC2 genes. The exact functions of the NPC1 and NPC2 proteins are still unclear. NP-C is currently described as a cellular cholesterol trafficking defect but in the brain, the prominently stored lipids are gangliosides. Clinical examination should include comprehensive neurological and ophthalmological evaluations. The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perinuclear vesicles (lysosomes after staining with filipin. Pronounced abnormalities are observed in about 80% of the cases, mild to moderate alterations in the remainder ("variant" biochemical phenotype. Genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis. The differential

  3. Longer-term needs of stroke survivors with communication difficulties living in the community: a systematic review and thematic synthesis of qualitative studies.

    Science.gov (United States)

    Wray, Faye; Clarke, David

    2017-10-06

    To review and synthesise qualitative literature relating to the longer-term needs of community dwelling stroke survivors with communication difficulties including aphasia, dysarthria and apraxia of speech. Systematic review and thematic synthesis. We included studies employing qualitative methodology which focused on the perceived or expressed needs, views or experiences of stroke survivors with communication difficulties in relation to the day-to-day management of their condition following hospital discharge. We searched MEDLINE, EMBASE, PsycINFO, CINAHL, The Cochrane Library, International Bibliography of the Social Sciences and AMED and undertook grey literature searches. Studies were assessed for methodological quality by two researchers independently and the findings were combined using thematic synthesis. Thirty-two studies were included in the thematic synthesis. The synthesis reveals the ongoing difficulties stroke survivors can experience in coming to terms with the loss of communication and in adapting to life with a communication difficulty. While some were able to adjust, others struggled to maintain their social networks and to participate in activities which were meaningful to them. The challenges experienced by stroke survivors with communication difficulties persisted for many years poststroke. Four themes relating to longer-term need were developed: managing communication outside of the home, creating a meaningful role, creating or maintaining a support network and taking control and actively moving forward with life. Understanding the experiences of stroke survivors with communication difficulties is vital for ensuring that longer-term care is designed according to their needs. Wider psychosocial factors must be considered in the rehabilitation of people with poststroke communication difficulties. Self-management interventions may be appropriate to help this subgroup of stroke survivors manage their condition in the longer-term; however, such

  4. Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series

    Directory of Open Access Journals (Sweden)

    Ueno Hiroki

    2011-12-01

    Full Text Available Abstract Introduction Previous studies have shown widespread multisystem degeneration in patients with sporadic amyotrophic lateral sclerosis who develop a total locked-in state and survive under mechanical ventilation for a prolonged period of time. However, the disease progressions reported in these studies were several years after disease onset. There have been no reports of long-term follow-up with brain imaging of patients with familial amyotrophic lateral sclerosis at an advanced stage of the disease. We report the cases of siblings with amyotrophic lateral sclerosis with homozygous deletions of the exon 5 mutation of the gene encoding optineurin, in whom brain computed tomography scans were followed up for more than 20 years. Case presentation The patients were a Japanese brother and sister. The elder sister was 33 years of age at the onset of disease, which began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 revealed no abnormality. Atrophy of her brain gradually progressed. Ten years after the onset of mechanical ventilation, atrophy of her whole brain, including the cerebral cortex, brain stem and cerebellum, markedly progressed. Her younger brother was 36 years of age at the onset of disease, which presented as muscle weakness of his left upper limb. One year later, he showed dysphagia and dysarthria, and tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on brain computed tomography scans obtained at the age of 37 years. At the age of 48 years, computed tomography scans showed marked brain atrophy with ventricular dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister. Conclusion We conclude that a homozygous deletion

  5. Stimulation of the pedunculopontine nucleus area in Parkinson's disease: effects on speech and intelligibility.

    Science.gov (United States)

    Pinto, Serge; Ferraye, Murielle; Espesser, Robert; Fraix, Valérie; Maillet, Audrey; Guirchoum, Jennifer; Layani-Zemour, Deborah; Ghio, Alain; Chabardès, Stéphan; Pollak, Pierre; Debû, Bettina

    2014-10-01

    Improvement of gait disorders following pedunculopontine nucleus area stimulation in patients with Parkinson's disease has previously been reported and led us to propose this surgical treatment to patients who progressively developed severe gait disorders and freezing despite optimal dopaminergic drug treatment and subthalamic nucleus stimulation. The outcome of our prospective study on the first six patients was somewhat mitigated, as freezing of gait and falls related to freezing were improved by low frequency electrical stimulation of the pedunculopontine nucleus area in some, but not all, patients. Here, we report the speech data prospectively collected in these patients with Parkinson's disease. Indeed, because subthalamic nucleus surgery may lead to speech impairment and a worsening of dysarthria in some patients with Parkinson's disease, we felt it was important to precisely examine any possible modulations of speech for a novel target for deep brain stimulation. Our results suggested a trend towards speech degradation related to the pedunculopontine nucleus area surgery (off stimulation) for aero-phonatory control (maximum phonation time), phono-articulatory coordination (oral diadochokinesis) and speech intelligibility. Possibly, the observed speech degradation may also be linked to the clinical characteristics of the group of patients. The influence of pedunculopontine nucleus area stimulation per se was more complex, depending on the nature of the task: it had a deleterious effect on maximum phonation time and oral diadochokinesis, and mixed effects on speech intelligibility. Whereas levodopa intake and subthalamic nucleus stimulation alone had no and positive effects on speech dimensions, respectively, a negative interaction between the two treatments was observed both before and after pedunculopontine nucleus area surgery. This combination effect did not seem to be modulated by pedunculopontine nucleus area stimulation. Although limited in our group of

  6. A Trp474Cys mutation in the alpha-subunit of beta-hexosaminidase causes a subacute encephalopathic form of G{sub M2} gangliosidosis, type 1

    Energy Technology Data Exchange (ETDEWEB)

    Petroulakis, E.; Cao, Z.; Salo, T. [Univ. of Manitoba, Winnipeg (Canada)] [and others

    1994-09-01

    Mutations in the HEXA gene that encodes the {alpha}-subunit of the heterodimeric lysosomal enzyme {beta}-hexosaminidase A, or Hex A ({alpha}{beta}), cause G{sub M2} gangliosidosis, type 1. The infantile form (Tay-Sachs disease) results when there is no residual Hex A activity, while less severe and more variable clinical phenotypes result when residual Hex A activity is present. A non-Jewish male who presented with an acute psychotic episode at age 16 was diagnosed with a subacute encephalopathic form of G{sub M2} gangliosidosis. At age 19, chronic psychosis with intermittent acute exacerbations remains the most disabling symptom in this patient and his affected brother although both exhibit some ataxia and moderately severe dysarthria. We have found a 4 bp insertion (+TATC 1278) associated with infantile Tay-Sachs disease on one allele; no previously identified mutation was found on the second allele. SSCP analysis detected a shift in exon 13 and sequencing revealed a G1422C mutation in the second allele that results in a Trp474Cys substitution. The presence of the mutation was confirmed by the loss of HaeIII and ScrFI sites in exon 13 PCR products from the subjects and their father. The mutation was introduced into the {alpha}-subunit cDNA and Hex S ({alpha}{alpha}) and Hex A ({alpha}{beta}) were transiently expressed in monkey COS-7 cells. The Trp474Cys mutant protein had approximately 5% and 12% of wild-type Hex S and Hex A activity, respectively. Western blot analysis revealed a small amount of residual mature {alpha}-subunit and a normal level of precursor protein. We conclude that the Trp474Cys mutation is the cause of the Hex A deficiency associated with a subacute (juvenile-onset) phenotype in this patient. Like other mutations in exon 13 of HEXA, it appears to affect intracellular processing. Studies of the defect in intracellular processing are in progress.

  7. A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

    Directory of Open Access Journals (Sweden)

    Swati Khare

    Full Text Available The autosomal dominant spinocerebellar ataxias (SCAs are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3.3. We detail the clinical phenotype of four SCA13 kindreds that confirm causation of the KCNC3R423H allele. The heralding features demonstrate congenital onset with non-progressive, neurodevelopmental cerebellar hypoplasia and lifetime improvement in motor and cognitive function that implicate compensatory neural mechanisms. Targeted expression of human KCNC3R423H in Drosophila triggers aberrant wing veins, maldeveloped eyes, and fused ommatidia consistent with the neurodevelopmental presentation of patients. Furthermore, human KCNC3R423H expression in mammalian cells results in altered glycosylation and aberrant retention of the channel in anterograde and/or endosomal vesicles. Confirmation of the absence of plasma membrane targeting was based on the loss of current conductance in cells expressing the mutant channel. Mechanistically, genetic studies in Drosophila, along with cellular and biophysical studies in mammalian systems, demonstrate the dominant negative effect exerted by the mutant on the wild-type (WT protein, which explains dominant inheritance. We demonstrate that ocular co-expression of KCNC3R423H with Drosophila epidermal growth factor receptor (dEgfr results in striking rescue of the eye phenotype, whereas KCNC3R423H expression in mammalian cells results in aberrant intracellular retention of human epidermal growth factor receptor (EGFR. Together, these results indicate that the neurodevelopmental

  8. Fluorine-18-fluorodeoxyglucose positron emission tomography (PET) brain imaging patterns in patients with suspected X-linked dystonia parkinsonism (study in progress)

    International Nuclear Information System (INIS)

    Santiago, J.F.Y.; Fugoso, L.; Evidente, V.G.H.

    2004-01-01

    Objective: X-linked dystonia-parkinsonism (XDP or Lubag) is an adult-onset dystonia syndrome that afflicts mostly Filipino men from the island of Panay, Philippines.It starts focally and becomes generalized or multifocal after the first five years. Parkinsonism is commonly encountered as the initial symptom before the onset of dystonia. Patients may manifest a wide spectrum of movement disorders, including myoclonus, chorea, akathisia, ballism and myorhythmia. Diagnosis is based on the clinical presentation, and the establishment of an x-linked recessive pattern of inheritance and maternal roots from the Panay Islands. Neuroimaging in advanced cases have demonstrated caudate and putaminal atrophy. Previous studies using PET have shown selective reduction in normalized striatal glucose metabolism. The purpose of this study is to describe the FDG distribution using PET imaging in Filipino patients with suspected or confirmed Lubag in various stages of their disease in order to determine if FDG-PET can be used in the initial diagnosis and staging of the disease. Methods and results: All patients presenting to the Movement Disorders Center of St. Lukes Medical Center with dystonia and Parkinsonism symptoms with X-linked recessive inheritance pattern and maternal roots traceable to the Panay Islands were sent for a Brain FDG PET Scan. Seven male patients with various movement disorders (dysarthria, face dystonia, Parkinsonism, hemibalismus, involuntary movements and rest tremors) with duration of symptoms from 1 to 5 years underwent a PET scan. All patients had non visualized bilateral putamen, four had hypometabolic caudate nuclei, one had intense (hypermetabolic) caudate nuclei. CT scan and MRI did not show any findings which may explain the movement disorder symptoms. More patients are being collected and gene typing is planned for some patients. Conclusions: This small series of patients demonstrate that patients with the phenotypic characteristics of X

  9. Wilson's disease in children: clinical and diagnostic features

    International Nuclear Information System (INIS)

    Ayesha, H.; Choudhry, A.A.; Javed, M.T.; Javed, F.

    2002-01-01

    Objective: To study the clinical and diagnostic laboratory features of Wilsons disease in children and adolescents. Design: A prospective cohort study. Place and Duration of study: The study included patients diagnosed as Wilson s disease at the Department of Pediatrics Allied Hospital, Punjab medical College, Faisalabad from May 1997 to June 2001. Patients and methods: Patients presenting with liver or suggestive neurological disease were investigated. Others were diagnosed as a result of family screening. Diagnosis of neurologic disease was made if two of the following were present: Typical neurological findings, Kayser Fleischer corneal rings and low serum ceruloplasmin ( 100 mu gm) free serum copper (>10 mu gm/dl). In other forms and for family screening, 24 hours. Urinary copper (> 100 mu gm), free serum copper (>10 mu gm/dl), and wherever possible liver biopsy for histopathology and cytochemical staining by rubeanic acid was also done. Results: Twenty-seven patients with a mean age of 10.2 years were diagnosed as suffering from Wilson disease. Mean age for hepatic and neurological disease was 9 years and 11.5 years respectively. Youngest patient (neurologic) was 6 years old. 48% cases presented with neurological, 41% with hepatic and 4% with skeletal manifestations while 7 % were asymptomatic. Mean duration of symptoms before diagnosis was 6.1 months. Dysarthria (84.6%), tremors (69.2%), rigidity and poor school performance and hand writing (61.5%), dysphagia (46.1%) and dystonia (38.5%), were the most common neurologic findings. Chronic liver disease was seen in 73 % while acute forms were seen in 27 % cases. Two cases presented with fulminant hepatic failure. Consanguineous marriage of the parents was found in 70 % and family history of disease was present in 65 % cases. K-F (Kayser Fleischer) rings and low serum ceruloplasmin(<20 mg/dl) was found in 85% of all patients. In non neurologic types other tests of copper metabolism were done. Elevated urinary

  10. Communication Interface for Mexican Spanish Dysarthric Speakers

    Directory of Open Access Journals (Sweden)

    Gladys Bonilla-Enriquez

    2012-03-01

    Full Text Available La disartria es una discapacidad motora del habla caracterizada por debilidad o poca coordinación de los músculos del habla. Esta condición puede ser causada por un infarto, parálisis cerebral, o por una lesión severa en el cerebro. Para mexicanos con esta condición hay muy pocas, si es que hay alguna, tecnologías de asistencia para mejorar sus habilidades sociales de interacción. En este artículo presentamos nuestros avances hacia el desarrollo de una interfazde comunicación para hablantes con disartria cuya lengua materna sea el español mexicano. La metodología propuesta depende de (1 diseño especial de un corpus de entrenamiento con voz normal y recursos limitados, (2 adaptación de usuario estándar, y (3 control de la perplejidad del modelo de lenguaje para lograr alta precisión en el Reconocimiento Automático del Habla (RAH. La interfaz permite al usuario y terapéuta el realizar actividades como adaptación dinámica de usuario, adaptación de vocabulario, y síntesis de texto a voz. Pruebas en vivo fueron realizadas con un usuario con disartria leve, logrando precisiones de 93%-95% para habla espontánea.Dysarthria is a motor speech disorder due to weakness or poor coordination of the speechmuscles. This condition can be caused by a stroke, cerebral palsy, or by a traumatic braininjury. For Mexican people with this condition there are few, if any, assistive technologies to improve their social interaction skills. In this paper we present our advances towards the development of a communication interface for dysarthric speakers whose native language is Mexican Spanish. We propose a methodology that relies on (1 special design of a training normal-speech corpus with limited resources, (2 standard speaker adaptation, and (3 control of language model perplexity, to achieve high Automatic Speech Recognition (ASR accuracy. The interface allows the user and therapist to perform tasks such as dynamic speaker adaptation, vocabulary

  11. A radiological study on the velopharyngeal movement of dysarthric patients

    Energy Technology Data Exchange (ETDEWEB)

    Kim, M. J.; Oh, K. K.; Park, C. Y. [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    1984-03-15

    Velopharyngeal incompetency may be the main cause of dysarthria. Velopharyngeal incompetency can be induced by congenital anomalies, such as cleft palate and short soft palate and deformity of soft palte, or complication of adenoidectomy, and neuromuscular disorders affecting the velopharyngeal movement. The present study is aimed to evaluate the velopharyngeal movement in dysarthric patients. The material consisted of 38 cases of dysarthric patients and 30 cases of non-dysarthric control persons examined at the Department of Radiology, Yonsei University College of Medicine from September, 1982 through August, 1983. The radiologic examinations of the soft palate and pharynx were done at neutral and phonation state using Toshiba 500mA Imaging Intensifier. All cases were subjected to morphometric analysis by measuring the soft palate and pharynx. Results obtained were as follows: 1. In control group, the length of the soft palate was 40.7{+-}0.71mm in neutral state and increased 11% in vowel sound, 13% in consonant sound. The thickness of the soft palate was 9.4{+-}0.19mm in neutral state and increased 17% in vowel sound, 16% in consonant sound. The distance between the lateral pharyngeal walls was 36.2{+-}0.92mm in neutral state and decreased 8% in vowel sound, 11% consonant sound. The gap between the soft palate and posterior pharyngeal walla was not present and the levator eminence was higher than the level of the hard palate in phonation. 2. Among the dysarthric patients, 1) In group of dysarthric patients patients with morphological abnormality, the thickness of soft palate was minimally changed in relation to the control group, while the distance between the lateral pharyngeal walls was more decreased than the control group. The gap between the soft palate and posterior pharyngeal wall was more than 3 mm in 90.9% of these cases, and the levator eminence was at or below the level of hard palate. 2) In group of dysarthric patients with functional abnormality, the

  12. Treatment of intracranial aneurysms by flow diverter devices: Long-term results from a single center

    International Nuclear Information System (INIS)

    Briganti, Francesco; Napoli, Manuela; Leone, Giuseppe; Marseglia, Mariano; Mariniello, Giuseppe; Caranci, Ferdinando; Tortora, Fabio; Maiuri, Francesco

    2014-01-01

    Highlights: • We report the long-term results (2–4 years) with Flow Diverter Devices (FDD) from a single-center. • We recommend the use of FDD for large-neck aneurysms of the ICA syphon. • We think that more sophisticate FDD will reduce the incidence of technical adverse events. - Abstract: Objectives: Flow-Diverter Devices (FDD) are a new generation stents designed for the treatment of the intracranial aneurysms. This article reports the long-term results (2–4 years) of this treatment from a single-center. Methods: From November 2008 to January 2012, 35 patients (29 females and 6 males; mean age 53.9 y) with 39 intracranial aneurysms were treated by FDD. Five patients (14.3%) had ruptured aneurysms and 30 (85.7%) had no previous hemorrhage. The procedures were performed in 5 patients (14.3%) with SILK and in 30 (85.7%) with PED. In 3 patients FDDs were used as a second treatment after failure of previous coiling (2 cases) or stenting (one case). The 39 aneurysms were in supraclinoid ICA in 26 (66.7%), cavernous ICA in 2 (5.1%), PCoA in 4 (10.2%), MCA in 5 (12.9%), SCA in 1 (2.6%) and PICA in 1 (2.6%). The aneurysms were small (<10 mm) in 32 cases (82%), large (11–25 mm) in 6 (15.3%) and giant in 1 (2.6%). The occlusion rate according to the aneurysm location, size and neck and the complications were evaluated. Results: Peri-procedural complications included transient dysarthria (2 patients), vasospasm with acute intra-stent aggregation (one), microwire rupture (one) and failure of the stent opening (one). The follow-up was made between 24 and 62 months (mean 41 months); clinical examination and CTA were performed at 1, 3, 6 and 12 months after the procedure. The complete occlusion was confirmed by CTA and DSA. MRI with angiographic-studies was taken every year. Complete occlusion was obtained in 35 aneurysms (92.1%) and subtotal in 3 (7.9%). Complete occlusion occurred at 3 months in 24 cases (68.6%), within 3 and 6 months in 9 (25.7%). The rate and

  13. A clinical epidemiological study of 251 cases of amyotrophic lateral sclerosis in the south of Brazil Estudo clínico epidemiológico de 251 casos de esclerose lateral amiotrófica no sul do Brasil

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    Lineu Cesar Werneck

    2007-06-01

    Full Text Available OBJECTIVE: To study the clinical forms of amyotrophic lateral sclerosis (ALS and the possible presence of risk factors in order to verify if there is any difference between cases in Paraná, Brazil. METHOD: We studied 251 cases, all of which fulfilled the diagnosis criteria proposed in El Escorial (WFN. Between 1977 and 2004, 157 male and 94 female patients were examined. RESULTS: 220 cases were classified as ALS-Spinal Onset (ALS-SO, 24 as ALS-Bulbar Onset (ALS-BO and 7 as Familial ALS. The mean age at time of evaluation was 54.4±12.3 years, and symptoms had started 17.9±15.7months previously. In the group studied, statistical relationships were found between heavy occupations and males; previous surgeries and females; ALS-BO and dysphagia and dysarthria in females; and ALS-SO and males, cramps, weakness, muscle atrophy, hypertonia, increased deep tendon reflex and abnormal gait. CONCLUSION: The average age at time of evaluation was lower than that registered in the literature but similar to the Brazilian series. Domestic work and heavy occupations appear to be related to precocious perception of the symptoms by interference with daily functions. The socioeconomically higher classes seek medical care early. There was no relationship with exposure to toxic agents or trauma.OBJETIVO: Estudar as formas clínicas de esclerose lateral amiotrófica (ELA e possíveis fatores de risco, a fim de verificar se existem diferenças entre os casos do Paraná, Brasil. MÉTODO: Estudamos 251 casos entre 1977 e 2004, que preencheram os critérios propostos em El Escorial (WFN, sendo 157 do sexo masculino e 94 do feminino. RESULTADOS: Foram classificados como ELA de início espinhal (ELA-IE 220 casos, ELA de início bulbar (ELA-IB 24 casos e 7 casos como ELA familiar. A idade média na avaliação foi 54,4±12,3 anos cujos sintomas iniciaram 17,9 ±15,7 meses antes. Foram encontradas relações estatísticas entre ocupação que demandam esforços físicos com

  14. High Caloric Diet for ALS Patients: High Fat, High Carbohydrate or High Protein

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    Sarvin Sanaie

    2015-01-01

    Full Text Available ALS is a fatal motor neurodegenerative disease characterized by muscle atrophy and weakness, dysarthria, and dysphagia. The mean survival of ALS patients is three to five years, with 50% of those diagnosed dying within three years of onset (1. A multidisciplinary approach is crucial to set an appropriate plan for metabolic and nutritional support in ALS. Nutritional management incorporates a continuous assessment and implementation of dietary modifications throughout the duration of the disease. The nutritional and metabolic approaches to ALS should start when the diagnosis of ALS is made and should become an integral part of the continuous care to the patient, including nutritional surveillance, dietary counseling, management of dysphagia, and enteral nutrition when needed. Malnutrition and lean body mass loss are frequent findings in ALS patients necessitating comprehensive energy requirement assessment for these patients. Malnutrition is an independent prognostic factor for survival in ALS with a 7.7 fold increase in risk of death. Malnutrition is estimated to develop in one quarter to half of people with ALS (2. Adequate calorie and protein provision would diminish muscle loss in this vulnerable group of patients. Although appropriate amount of energy to be administered is yet to be established, high calorie diet is expected to be effective for potential improvement of survival; ALS patients do not normally receive adequate  intake of energy. A growing number of clinicians suspect that a high calorie diet implemented early in their disease may help people with ALS meet their increased energy needs and extend their survival. Certain high calorie supplements appear to be safe and well tolerated by people with ALS according to studies led by Universitäts klinikum Ulm's and, appear to stabilize body weight within 3 months. In a recent study by Wills et al., intake of high-carbohydrate low-fat supplements has been recommended in ALS patients (3

  15. Miastenia grave: avaliação clínica de 153 pacientes Myasthenia gravis: clinical evaluation of 153 patients

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    FRANCISCO MARCOS B. CUNHA

    1999-06-01

    Full Text Available São analisados, retrospectivamente, os prontuários dos doentes miastênicos diagnosticados e seguidos no período de fevereiro de 1973 a março de l995. Os principais achados clínicos foram ptose palpebral, diplopia, disfagia, disfonia ou disatria, dificuldade de mastigação, dispnéia, astenia, paresia da musculutura cervical e das extremidades. A partir das informações coletadas, os pacientes foram classificados clinicamente pela escala de Osserman-Genkins modificada, mas considerando o aspecto não dinâmico dessa escala, adotou-se a escala funcional de Niakan modificada, na qual os doentes são colocados nas seguintes condições: remissão, controlado, compensado, controle parcial, controle precário, sem resposta. Na casuística foram estudados 153 pacientes: 104 (68,0% do sexo feminino e 49 (32,0% do sexo masculino, numa proporção de 2,1:1. O tempo de doença variou de sete dias a 27 anos, com média de 6,26 anos (± 5,44. A idade dos primeiros sintomas variou entre 24 horas a 80 anos, com média de idade de 32,13 anos (±19,48. Até os 15 anos foram observados 30 doentes; entre 15 e 50 anos, 91 doentes; com idade acima de 50 anos, 32 doentes; após os 60 anos, a doença tem nítido predomínio entre os homens (1,5:1. Na amostra estudada, a forma auto-imunoadquirida foi a mais frequente, com comprometimento muscular generalizado, porém o envolvimento da musculatura ocular com ptose e diplopia se constituiu nas manifestações clínicas mais frequentes.We have retrospectively analysed the records of patients diagnosed as having myasthenia gravis and followed up in our departament from February 1973 to March 1995. The main clinical findings were ptosis, diplopia, dysphagia, disphonia or dysarthria, mastigatory impairment, dyspnea, asthenia, weakness of the cervical muscles and of the extremities, as well as findings of the physical and neurological examination. Based on the information collected, the patients were classified

  16. Treatment of intracranial aneurysms by flow diverter devices: Long-term results from a single center

    Energy Technology Data Exchange (ETDEWEB)

    Briganti, Francesco, E-mail: frabriga@unina.it [Unit of Interventional Neuroradiology, Department of Advanced Biomedical Sciences, “Federico II” University, Via S.Pansini 5., 80131 Naples (Italy); Napoli, Manuela, E-mail: napoli.manuela@gmail.com [Department of Advanced Biomedical Sciences, “Federico II” University, Via S.Pansini 5., 80131 Naples (Italy); Leone, Giuseppe, E-mail: g.leonemd@gmail.com [Department of Advanced Biomedical Sciences, “Federico II” University, Via S.Pansini 5., 80131 Naples (Italy); Marseglia, Mariano, E-mail: mariano-marseglia@libero.it [Department of Advanced Biomedical Sciences, “Federico II” University, Via S.Pansini 5., 80131 Naples (Italy); Mariniello, Giuseppe, E-mail: giuseppe.mariniello@unina.it [Division of Neurosurgery, Department of Neurosciences, Reproductive and Odontostomatological Sciences, “Federico II” University, Via S.Pansini 5., 80131 Naples (Italy); Caranci, Ferdinando, E-mail: ferdinando.caranci@unina.it [Department of Advanced Biomedical Sciences, “Federico II” University, Via S.Pansini 5., 80131 Naples (Italy); Tortora, Fabio, E-mail: fabiotor@libero.it [Chair of Neuroradiology, “Magrassi Lanzara” Clinical-Surgical Department, Second University of Naples, Viale Colli Aminei 21, 80131 Naples (Italy); Maiuri, Francesco, E-mail: frmaiuri@unina.it [Division of Neurosurgery, Department of Neurosciences, Reproductive and Odontostomatological Sciences, “Federico II” University, Via S.Pansini 5., 80131 Naples (Italy)

    2014-09-15

    Highlights: • We report the long-term results (2–4 years) with Flow Diverter Devices (FDD) from a single-center. • We recommend the use of FDD for large-neck aneurysms of the ICA syphon. • We think that more sophisticate FDD will reduce the incidence of technical adverse events. - Abstract: Objectives: Flow-Diverter Devices (FDD) are a new generation stents designed for the treatment of the intracranial aneurysms. This article reports the long-term results (2–4 years) of this treatment from a single-center. Methods: From November 2008 to January 2012, 35 patients (29 females and 6 males; mean age 53.9 y) with 39 intracranial aneurysms were treated by FDD. Five patients (14.3%) had ruptured aneurysms and 30 (85.7%) had no previous hemorrhage. The procedures were performed in 5 patients (14.3%) with SILK and in 30 (85.7%) with PED. In 3 patients FDDs were used as a second treatment after failure of previous coiling (2 cases) or stenting (one case). The 39 aneurysms were in supraclinoid ICA in 26 (66.7%), cavernous ICA in 2 (5.1%), PCoA in 4 (10.2%), MCA in 5 (12.9%), SCA in 1 (2.6%) and PICA in 1 (2.6%). The aneurysms were small (<10 mm) in 32 cases (82%), large (11–25 mm) in 6 (15.3%) and giant in 1 (2.6%). The occlusion rate according to the aneurysm location, size and neck and the complications were evaluated. Results: Peri-procedural complications included transient dysarthria (2 patients), vasospasm with acute intra-stent aggregation (one), microwire rupture (one) and failure of the stent opening (one). The follow-up was made between 24 and 62 months (mean 41 months); clinical examination and CTA were performed at 1, 3, 6 and 12 months after the procedure. The complete occlusion was confirmed by CTA and DSA. MRI with angiographic-studies was taken every year. Complete occlusion was obtained in 35 aneurysms (92.1%) and subtotal in 3 (7.9%). Complete occlusion occurred at 3 months in 24 cases (68.6%), within 3 and 6 months in 9 (25.7%). The rate and

  17. Inclusão escolar de crianças e adolescentes com paralisia cerebral: esta é uma realidade possível para todas elas em nossos dias? School inclusion of children and adolescents with cerebral palsy: is this possible for all of them in our days?

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    Lúcia Helena C. dos Santos

    2011-09-01

    2005. Parents or caregivers completed a questionnaire about type of school attended at the moment, learning disabilities, and need for psychopedagogic and speech-language support. Data collected included who was primary caregiver, his/her school level and per capita income. Data obtained from medical records were: perinatal and post natal antecedents, topographic classification of CP and motor function (Gross Motor Function Classification System - GMFCS, speech classification and presence of epilepsy. RESULTS: 105 children and adolescents were included. Mean age was 10.8 years old and 61 (58% were male; 97 (92% attended school, with 36 (34% in regular classes, 7 (6.5% in special classes and 54 (51% in special schools. Most of the children attending regular school had GMFCS level I or II, hemiplegia, absence of epilepsy or good control of seizures and either normal speech or dysarthria. Those in special schools had GMFCS levels III, IV or V, diplegia or tetraplegia, refractory epilepsy and a delayed speech or muteness. CONCLUSIONS: Up to now, inclusion of children with CP in regular schools proved to be indicated for those hemiplegic, with GMFCS level I or II, without epilepsy and with normal speech.

  18. Perfil populacional de pacientes com disartria atendidos em hospital terciário Populational profile of dysarthric patients assisted in a tertiary hospital

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    Ariella Fornachari Ribeiro

    2009-01-01

    patients assisted in a tertiary hospital, and to present the most frequent speech disorders found in this population. METHODS: A specific protocol proposed for dysarthric patients was applied, gathering data through tasks that evaluate breathing, phonation, resonance, articulation, and prosody. Sixty protocols applied to patients evaluated at the Communication Disorders Ambulatory of the institution were the study took place were randomly selected for analysis. Data was descriptively analyzed. RESULTS: Regarding the populational profile of the dysarthric patients attended at a tertiary hospital, it was observed prevalence of male subjects, mostly aged from 20 to 50 years. The most common types of dysarthria were flaccid and unilateral upper motor neuron. Stroke was the most prevalent etiology for this speech disorder. Regarding the motor bases evaluated, it was observed a predominance of mixed breathing, hoarse voice, and normal velar movement, although mild hypernasality was identified. Articulation was mostly severely altered, and mild prosody alterations were predominant in the investigated population. CONCLUSION: It was possible to draw a profile of dysarthric patients assisted in a tertiary hospital in Brazil. The most common characteristics were: short breathing cycles, hoarse hypernasal phonation, moderate to severe articulation disorders, mild prosody impairment and low speech rate.

  19. Ataxia espinocerebelosa 7: Investigación clínica y genética en una familia argentina Spinocerebellar ataxia 7: Clinical and genetic investigation in an Argentine family

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    Juan I. Rojas

    2007-04-01

    Full Text Available Las ataxias espino cerebelosas (AEC, constituyen un grupo de trastornos hereditarios neurodegenerativos de herencia autosómica dominante. Se caracterizan principalmente por la presencia clínica de ataxia cerebelosa asociada a oftalmoplejía, disartria, signos piramidales o extrapiramidales y pérdida de la sensibilidad profunda. La AEC 7 pertenece al grupo de las ataxias espinocerebelosas en la cual el trastorno es consecuencia de la expansión del triplete CAG localizado en el cromosoma 3 p12-p21. La característica clínica de dicha ataxia es la pérdida de la agudeza visual y posterior ceguera. Presentamos tres individuos de una familia con ataxia cerebelosa, pérdida de la agudeza visual y otros signos neurológicos. El diagnóstico fue confirmado por medio del análisis genético en el cual se observó la anormalidad característica de la AEC 7. Este es el primer caso de AEC 7 en Argentina confirmado por estudio genético. En la revisión de la literatura (hasta enero 2006 se hallaron sólo dos familias notificadas en América Latina. El objetivo del trabajo es el de enfocar la atención en el diagnóstico de esta enfermedad degenerativa en pacientes que se presentan con ataxia cerebelosa progresiva asociada con disminución de la agudeza visual e historia familiar positiva.Spino cerebellar ataxia (SCA are a complex group of hereditary neurodegenerative disturbances of autosomal dominant pattern. They are largely characterized by the clinical presence of cerebellar ataxia related to ophtalmoplegia, dysarthria, pyramidal and extra-pyramidal signs and loss of deep sensitivity. SCA 7 belongs to the SCA group in which the disturbance is a result of the expansion of CAG triplet repetition located in the 3p12-p21 chromosome. The characteristic clinical feature of SCA7 is the loss of visual acuity and blindness. We present here three cases of ataxia, from the same family, with loss of visual acuity and other neurological disorders. The diagnosis

  20. Avaliação fonoaudiológica na atrofia de múltiplos sistemas: estudo com cinco pacientes Multiple system atrophy speech assessment: study of five cases

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    Denise Botelho Knopp

    2002-09-01

    Full Text Available A atrofia de múltiplos sistemas (AMS é caracterizada pela presença de sinais parkinsonianos, cerebelares, autonômicos e piramidais, em várias combinações. O aparecimento de disartria e disfagia no primeiro ano de manifestação de parkinsonismo, sugere o diagnóstico de AMS. O objetivo deste estudo foi o de caracterizar do ponto de vista fonoaudiológico os distúrbios da fala e da voz dos pacientes com AMS. Foram selecionados cinco pacientes, com idade média de 51,2 anos e com diagnóstico provável de AMS. Cada paciente foi submetido a avaliação neurológica e fonoaudiológica. Esta última foi composta dos seguintes itens: anamnese; avaliação miofuncional e avaliação perceptivo-auditiva da fala. Os sintomas de fala e voz apareceram 1,1 ano após o início dos sintomas motores e a disartrofonia apresentada por todos os pacientes foi a do tipo mista, mesclando os componentes hipocinético, atáxico e espástico, com predomínio do primeiro. Nossos achados são diferentes daqueles comumente vistos em pacientes com a doença de Parkinson, onde o componente hipocinético é o único achado. Os dados levantados indicam que a avaliação fonoaudiológica é importante no diagnóstico diferencial e no planejamento terapêutico da AMS.Multiple system atrophy (MSA is characterized by parkinsonian, cerebellar and pyramidal features along with autonomic dysfunction in different combinations. Onset of dysarthria during the first year of the manifestation of a parkinsonian syndrome suggests the diagnosis of MSA. The aim of this study was to characterize the voice and the speech of patients with MSA. We studied five MSA patients with a mean age of 51.2 years. Each patient was submitted to a neurological and a specific speech and voice assessment. The latter consisted of the following: clinical interview, myofunctional examination, and perceptual speech evaluation. Speech and voice complaints occurred at an average time of 1.1 year after the

  1. Augmentative And Alternative Communication Systems For Post-Stroke Patients With Severe Communication And Motor Impairment

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    Talieh Zarifian

    2017-02-01

    Full Text Available Background and aims: Adults with acquired neurological disorders (stroke, Traumatic Brain Injury ... develop their verbal communication and literacy capabilities as typical speakers and writers. They use these skills to participate academically, vocationally, recreationally, and socially. Depending upon their neurological condition, they gradually or suddenly lose their speech or language capabilities and are required to rely on Augmentative and Alternative Communication (AAC systems to meet their communication needs. In addition to the loss of their spoken communication, the impact of their neurological condition on their participation patterns is potentially profound with reduced ability to care for themselves, a reduction or loss of employment, and usually a sudden or gradual restriction of their social networks. AAC is an umbrella term that encompasses the communication methods used to supplement or replace speech or writing for those with impairments in the production or comprehension of spoken or written language. During the past five decades, AAC technologies have been developed to compensate for these natural communication losses.      Stroke is one of the main causes of disability in the world. About 20% of stroke patients experience aphasia, with 20-30% of these individuals exhibiting severe communication deficits for at least a portion of their recovery period. Augmentative and Alternative Communication (AAC encompasses the communication methods used to supplement or replace speech or writing for those with impairments in the production of spoken or written language.  Specifically designed Human Computer Interfaces (HCI, as an assistive technology, provides new channels of communication for patients with aphasia, dysarthria, and dyspraxia, when accompanied by movement impairments.       In this workshop after stating a science review of the following types of issues: AAC acceptance (individually, culturally; AAC availability

  2. Significance of mercury in environmental health - an overview; Bedeutung von Quecksilber in der Umweltmedizin - eine Uebersicht

    Energy Technology Data Exchange (ETDEWEB)

    Schweinsberg, F. [Chemisches Labor, Institut fuer Allgemeine Hygiene und Umwelthygiene, Tuebingen (Germany)

    2002-07-01

    In addition to occupational exposure to mercury, dental amalgam fillings and fish consumption are the most important sources of mercury body burden in environmental medicine. The principle signs of chronic diseases of the nervous system caused by inorganic mercury are tremor, ataxia, impaired vision and emotional agitation. In the kidneys, tubular necrosis may develop. In patients with severe kidney dysfunction, no amalgam fillings should by inserted. In rare cases, amalgam fillings may cause allergic reactions of the delayed type IV sensitivity and oral lichenoid reactions. Subclinical effects caused by amalgam fillings and their impact on human health is still a topic of controversial discussion. In scientific terms it is not possible to demonstrate a correlation between unspecific symptoms and exposure of mercury released by amalgam fillings. Chronic toxicology of the nervous system caused by organic mercury is characterized by paresthesia, ataxia, dysarthria, constriction of the visual field and hearing impairment. Possible adverse effects on the fetus as a result of the uptake of organic mercury in fish consumption during pregnancy must be critically assessed. The evaluation of adverse health effects brought about by exposure to mercury is assessed in Germany by the definition of human biological monitoring (HBM) values. In long-term exposure to inorganic mercury above the HMB-II value of mercury in urine of 25 {mu}g/L, adverse health effects can arise. The corresponding HMB-II value in blood brought about by organic mercury is 15 {mu}g/L, which is approximately equal to a mercury content of 5 {mu}g/kg in hair. (orig.) [German] Neben dem Arbeitsplatz sind heute im Umweltbereich Amalgamfuellungen und Fischkonsum die wichtigsten Expositionsquellen mit Quecksilber. Leitsymptome einer chronischen Erkrankung des Nervensystems durch anorganisches Quecksilber sind Tremor, Koordinationsstoerungen von Bewegungsablaeufen, Sehstoerungen und Ueberregbarkeit. In den Nieren

  3. Treatment of acoustic neuroma: stereotactic radiosurgery vs. microsurgery

    International Nuclear Information System (INIS)

    Karpinos, Marianna; Teh, Bin S.; Zeck, Otto; Carpenter, L. Steven; Phan, Chris; Mai, W.-Y.; Lu, Hsin H.; Chiu, J. Kam; Butler, E. Brian; Gormley, William B.; Woo, Shiao Y.

    2002-01-01

    -term follow-up). Similarly, the rate of trigeminal neuropathy was significantly higher in the microsurgical group than in the radiosurgical group (17% vs. 0% in the immediate postoperative period, p<001, and 22% vs. 12.2%, p=0.009, at long-term follow-up). There was no significant difference in exacerbation of preoperative tinnitus, imbalance, dysarthria, dysphagia, and headache. Patients treated with microsurgery had a longer hospital stay (2-16 days vs. 1-2 days, p<0.01) and more perioperative complications (47.8% vs. 4.6%, p<0.01) than did patients treated with radiosurgery. There was no correlation between the microsurgical approach used and postoperative symptoms. There was no difference in the postoperative functioning level, employment, and overall patient satisfaction. There was no correlation between the radiation dose, tumor size, number of isocenters used, and postoperative symptoms in the radiosurgical group. Conclusion: Radiosurgical treatment for acoustic neuroma is an alternative to microsurgery. It is associated with a lower rate of immediate and long-term development of facial and trigeminal neuropathy, postoperative complications, and hospital stay. Radiosurgery yields better measurable hearing preservation than microsurgery and equivalent serviceable hearing preservation rate and tumor growth control

  4. Treatment of acoustic neuroma: stereotactic radiosurgery vs. microsurgery

    Energy Technology Data Exchange (ETDEWEB)

    Karpinos, Marianna; Teh, Bin S; Zeck, Otto; Carpenter, L Steven; Phan, Chris; Mai, W -Y; Lu, Hsin H; Chiu, J Kam; Butler, E Brian; Gormley, William B; Woo, Shiao Y

    2002-12-01

    .3% vs. 6.1%, p=0.008, at long-term follow-up). Similarly, the rate of trigeminal neuropathy was significantly higher in the microsurgical group than in the radiosurgical group (17% vs. 0% in the immediate postoperative period, p<001, and 22% vs. 12.2%, p=0.009, at long-term follow-up). There was no significant difference in exacerbation of preoperative tinnitus, imbalance, dysarthria, dysphagia, and headache. Patients treated with microsurgery had a longer hospital stay (2-16 days vs. 1-2 days, p<0.01) and more perioperative complications (47.8% vs. 4.6%, p<0.01) than did patients treated with radiosurgery. There was no correlation between the microsurgical approach used and postoperative symptoms. There was no difference in the postoperative functioning level, employment, and overall patient satisfaction. There was no correlation between the radiation dose, tumor size, number of isocenters used, and postoperative symptoms in the radiosurgical group. Conclusion: Radiosurgical treatment for acoustic neuroma is an alternative to microsurgery. It is associated with a lower rate of immediate and long-term development of facial and trigeminal neuropathy, postoperative complications, and hospital stay. Radiosurgery yields better measurable hearing preservation than microsurgery and equivalent serviceable hearing preservation rate and tumor growth control.

  5. A radiological study on the velopharyngeal movement of dysarthric patients

    International Nuclear Information System (INIS)

    Kim, M. J.; Oh, K. K.; Park, C. Y.

    1984-01-01

    Velopharyngeal incompetency may be the main cause of dysarthria. Velopharyngeal incompetency can be induced by congenital anomalies, such as cleft palate and short soft palate and deformity of soft palte, or complication of adenoidectomy, and neuromuscular disorders affecting the velopharyngeal movement. The present study is aimed to evaluate the velopharyngeal movement in dysarthric patients. The material consisted of 38 cases of dysarthric patients and 30 cases of non-dysarthric control persons examined at the Department of Radiology, Yonsei University College of Medicine from September, 1982 through August, 1983. The radiologic examinations of the soft palate and pharynx were done at neutral and phonation state using Toshiba 500mA Imaging Intensifier. All cases were subjected to morphometric analysis by measuring the soft palate and pharynx. Results obtained were as follows: 1. In control group, the length of the soft palate was 40.7±0.71mm in neutral state and increased 11% in vowel sound, 13% in consonant sound. The thickness of the soft palate was 9.4±0.19mm in neutral state and increased 17% in vowel sound, 16% in consonant sound. The distance between the lateral pharyngeal walls was 36.2±0.92mm in neutral state and decreased 8% in vowel sound, 11% consonant sound. The gap between the soft palate and posterior pharyngeal walla was not present and the levator eminence was higher than the level of the hard palate in phonation. 2. Among the dysarthric patients, 1) In group of dysarthric patients patients with morphological abnormality, the thickness of soft palate was minimally changed in relation to the control group, while the distance between the lateral pharyngeal walls was more decreased than the control group. The gap between the soft palate and posterior pharyngeal wall was more than 3 mm in 90.9% of these cases, and the levator eminence was at or below the level of hard palate. 2) In group of dysarthric patients with functional abnormality, the

  6. Hepatocerebral degeneration: report of a pediatric case Degeneración hepatocerebral: reporte de un caso pediátrico

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    José William Cornejo Ochoa

    2003-01-01

    Full Text Available Acquired (non-Wilsonian hepatocerebral degeneration (AHD is a rare, irreversible neurologic syndrome that occurs in patients with associated chronic liver disease. It is characterized by progressive dysfunction of extrapyramidal and cerebellar systems. Although clinical and laboratory findings are helpful in the differentiation from Wilson´s disease, the underlying pathophysiology has not been clearly elucidated. These patients have hyperammonemia or abnormal ammonia tolerance tests and high manganese concentrations. Some neurological signs are dysarthria, ataxia, tremor and dementia, with recurrent attacks of hepatic encephalopathy. Pyramidal tract signs are usually present. T1-weighted images demonstrate increased signal intensity in the basal ganglia, although cerebellum seems to be spared. However, bilateral signal abnormalities in the dentate nuclei on T2-weighted images can occur in AHD, indistinguishable from those of Wilson's disease. Such gray matter lesions can be found in hepatocerebral degeneration due to deposition of paramagnetic substances in the putamen, globus pallidus, subthalamic region, red nucleus, quadrigeminal plate and anterior pituitary. We describe the case of a 3.5 year-old male patient with an hepatic miofibroblastic tumor who had been followed for one year. Neurologic examination and mental status were normal, except for the presence of bilateral palmomental reflexes and the characteristic MRI findings of AHD. There were no Kayser-Fleischer corneal rings. In conclusion AHD can be found in children with liver disease and no apparent neurological findings and MRI abnormalities in T1 may be the only way of diagnosing this entity. La degeneración hepatocebral adquirida (DHCA es un síndrome neurológico raro e irreversible que ocurre en pacientes con enfermedad hepática crónica. Se caracteriza por una disfunción progresiva de los sistemas extrapiramidal y cerebeloso. Aunque los hallazgos clínicos y de laboratorio

  7. Analysis of epidemiological and clinical characteristics of patients admitted diagnosed with acute ischemic cerebrovascular event in internal medicine services and neurology of the Hospital Mexico in March 2013 to March 2014

    International Nuclear Information System (INIS)

    Araya Gonzalez, Manuel Alberto

    2014-01-01

    Records of 100 patients were revised with diagnosis of ischemic cerebrovascular event in the neurology and internal medicine at the Hospital Mexico since March 2013 to March 2014. A total of 46 patients were men and 54 were women. The overall mean age was 69 years, for men have been 66 years and for women from 71. Patients of all provinces were entered main of San Jose with 56% followed by 19% Alajuela. The hospital management by specialty was distributed 60% to internal medicine and 40% neurology. The risk factors most frequently found were: hypertension 85%, diabetes mellitus 40%, smoking 35%, and dyslipidemia 35%. Overweight was observed in 23% of patients and 22% obese. As for the initial clinical manifestations documented in the first physical examination, the 6 most frequently found have been: faciobrachiocrural hemiparesis 60%, delirium 22%, dysarthria 22%, headache 20%, nausea and/or vomiting 17% and aphasia 15%. A total of 13% of patients have altered the consciousness and 5% have required ventilatory support for first 24 hours of evolution. 27% of patients have arrived within the first 3 hours of onset of symptoms, 11% between 3 to 4.5 hours and the remaining 62% beyond 4.5 hours of duration. 70% of patients have had 1 or more comorbidities prior to the event, the top 5 have been: ischemic heart disease 31%, 29% atrial fibrillation, cerebrovascular disease 19%, 16% chronic kidney disease and congestive heart failure by 12%. Regarding the topographic classification of stokes, 16% were TACI, PACI 46%, 27% LACI and POCI only 11%. The average NIHSS scale has been 9 points to admission, 10 to 48 hours and 6 points at the time of discharge. Regarding brain scan on admission to 98% of the patients were performed while that between 48-72 hours alone to 74%. The most common initial tomographic CT findings have been: 49% lucency of more than 1/3 of middle cerebral artery territory, without alteration 46%, 8% cerebral edema data and 8% midline deviation. Hemorrhagic

  8. Análise acústica da prosódia em mulheres com doença de Parkinson: comparação com controles normais Acoustic analysis of prosody in females with Parkinson's disease: comparison with normal controls

    Directory of Open Access Journals (Sweden)

    Luciana L. Azevedo

    2003-12-01

    Full Text Available MOTIVO DO ESTUDO: Alterações da voz, denominadas disartria hipocinética, têm sido bem caracterizadas em doença de Parkinson (DP, ocorrendo em 90% dos pacientes. No entanto, estudos da fala em DP, sobretudo em falantes nativos de outros idiomas que não o inglês são escassos. Nosso objetivo é comparar as características da prosódia de mulheres com DP com controles pareadas por idade, utilizando-se análise acústica. MÉTODO: Nós estudamos 8 mulheres com DP (68,4 ± 6,4 anos e 8 mulheres controles (63,5 ± 6,8 anos. As pacientes (estágio H-Y 2, uma; estágio 2,5, quatro; estágio 3, três, embora tratadas com l-dopa, foram examinadas quando off. A frequência fundamental (Fo, intensidade e duração da fala foram analisadas com o programa WinPitch 1.8 (Philippe Martin®. Os parâmetros Fo analisados foram: Fo usual (Fo us, Fo máxima (Fo max, Fo mínima (Fo min, Fo max da tônica prénuclear (Fo max PNT, Fo min da tônica prénuclear (Fo min PNT, Fo max da tônica nuclear (Fo max NT, Fo min da tônica nuclear (Fo min TN, velocidade da variação melódica da PNT (VPNT, velocidade da variação melódica da NT (VNT, amplitude da variação melódica da PNT (APNT, e amplitude da variação melódica da NT (ANT. Duração da sentença (D, duração da PNT (DPNT, duração da NT (DNT e número de sílabas por segundo (NSS foram os parâmetros de duração investigados. Foram estudadas as seguintes variáveis da intensidade: intensidade média (MI, intensidade máxima (I max, intensidade mínima (I min, intensidade da PNT (IPNT e intensidade da NT (INT. Diferenças foram estatisticamente significativas se pBACKGROUND: Voice abnormalities, collectively labeled as hypokinetic dysarthria, have been well characterized and occur in 90% of Parkinson's disease (PD patients. However, studies of speech in PD, particularly of patients whose native language is other than English, are rarely found. The aim of this study is to compare the prosodic

  9. Anestesia combinada raqui-peridural em paciente portadora de esclerose lateral amiotrófica: relato de caso Anestesia combinada raquiepidural en paciente portadora de esclerosis lateral amiotrófica: relato de caso Combined spinal-epidural block in a patient with amyotrophic lateral sclerosis: case report

    Directory of Open Access Journals (Sweden)

    Adriano Bechara de Souza Hobaika

    2009-04-01

    transtrocantérica de fémur. Cuadro de debilidad en los miembros superiores e inferiores, disartria, consciente y orientada. Aparato respiratorio: tos ineficaz, reducción de la fuerza de los músculos intercostales y diafragma y reducción del murmurio vesicular en bases pulmonares. Primeramente, la punción epidural fue realizada en L3/L4, donde un catéter de silicona fue introducido 5 cm. A continuación, la punción raquídea se hizo en L4/L5 con administración de 7.5 mg de bupivacaína hiperbárica. Más 37 mg de ropivacaína a 0,37% se administraron por el catéter epidural para que el bloqueo sensitivo llegase al dermatomo T10. El procedimiento transcurrió sin complicaciones y la paciente recibió alta tres días después. CONCLUSIONES: Las evidencias han demostrado que la administración de bloqueos de neuro eje, parece ser segura en pacientes con esclerosis lateral amiotrófica, pues evita la manipulación de las vías aéreas y las complicaciones ventilatorias.BACKGROUND AND OBJECTIVES: Amyotrophic lateral sclerosis starts between the fifth and sixth decades of life, causing degeneration and death of upper and lower motor neurons. When the muscles responsible for ventilation are affected, the patient dies of respiratory failure within a few years. CASE REPORT: This is a 63 years old female with amyotrophic lateral sclerosis who underwent surgical treatment of a transtrochanteric fracture of the femur. The patient presented weakness of upper and lower limbs and dysarthria, and she was awake and oriented. Respiratory function: ineffective cough, decreased strength of the intercostal muscles and diaphragm, and reduction of the breath sounds in both lung bases. Initially, the L3/L4 epidural space was punctured and a silicon catheter was introduced to 5 cm. This was followed by a spinal puncture in the L4/L5 space and the administration of 7.5 mg of hyperbaric bupivacaine. This was followed by the administration of 37 mg of 0.37% ropivacaine through the epidural

  10. Classic galactosemia: features of diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    N.O. Pichkur

    2018-02-01

    liver biopsy sample. Results. The diagnosis of CG was established in 15 (5 % of 317 patients. Male/female ratio was 9 : 6, patient’s age ranged from 14 days to 15 years at the time of investigation in the Center. In 13 out of 15 children, the clinical diagnosis of CG was made on average of 47 days of life (47 ± 15 days. In two patients, the CG was diagnosed at the age of 2 and 15 years. In all patients, the activity of GALT enzyme in erythrocytes was reduced and ranged from 0.08 to 5.8 U/g Hb (mean value 3.3 ± 1.6 U/g Hb at a normal value > 10 U/g Hb. Molecular genetic analysis was performed in 14 patients. Five patients had a homozygous genotype of Q188R, 1 patient — homozygous K285N genotype, 6 patients were heterozygotes in two major mutations, Q188R and K285N (genotype Q188R/K285N; one patient had р.Y209S/р.K285N genotype, another one — р.K285N mutation only in one allele. Thus, 28 alleles in the GALT gene were examined from 14 patients and 27 mutations were identified: Q188R —57 %, K285N — 36 %, Y209S — 3 % (detected in one patient in one allele. The mutations Q188R and K285N together amounted to 93 % indicating a high level among Ukrainian population. Cataract has been diagnosed in 6 patients (40 %. In our group of CG patients, in all of them it was combined with neurological symptoms. Defeats of the nervous system (cognitive deficiency, spastic tetraparesis, dystonia, tremor and disorders in the form of dysarthria and delayed speech development were noted in 7 CG patients (47 %. The analysis of the mortality in this group showed that it was 27 % (4 of 15 patients dead at the age of 24 days to 2.5 months. Additionally, the analysis of families with CG patients showed frequent cases of early death from liver failure in the age up to 14 weeks. In three families, there were four deaths in the neonatal period. If we consider all dead children with similar symptoms in the families with CG patients, then the percentage of deceased patients would be

  11. Analysis of epidemiological and clinical characteristics of patients admitted diagnosed with acute ischemic cerebrovascular event in internal medicine services and neurology of the Hospital Mexico in March 2013 to March 2014; Analisis de las caracteristicas epidemiologicas y clinicas de los pacientes ingresados con diagnostico de evento cerebrovascular isquemico agudo en los servicios de medicina interna y neurologia del Hospital Mexico de marzo 2013 a marzo 2014

    Energy Technology Data Exchange (ETDEWEB)

    Araya Gonzalez, Manuel Alberto

    2014-07-01

    Records of 100 patients were revised with diagnosis of ischemic cerebrovascular event in the neurology and internal medicine at the Hospital Mexico since March 2013 to March 2014. A total of 46 patients were men and 54 were women. The overall mean age was 69 years, for men have been 66 years and for women from 71. Patients of all provinces were entered main of San Jose with 56% followed by 19% Alajuela. The hospital management by specialty was distributed 60% to internal medicine and 40% neurology. The risk factors most frequently found were: hypertension 85%, diabetes mellitus 40%, smoking 35%, and dyslipidemia 35%. Overweight was observed in 23% of patients and 22% obese. As for the initial clinical manifestations documented in the first physical examination, the 6 most frequently found have been: faciobrachiocrural hemiparesis 60%, delirium 22%, dysarthria 22%, headache 20%, nausea and/or vomiting 17% and aphasia 15%. A total of 13% of patients have altered the consciousness and 5% have required ventilatory support for first 24 hours of evolution. 27% of patients have arrived within the first 3 hours of onset of symptoms, 11% between 3 to 4.5 hours and the remaining 62% beyond 4.5 hours of duration. 70% of patients have had 1 or more comorbidities prior to the event, the top 5 have been: ischemic heart disease 31%, 29% atrial fibrillation, cerebrovascular disease 19%, 16% chronic kidney disease and congestive heart failure by 12%. Regarding the topographic classification of stokes, 16% were TACI, PACI 46%, 27% LACI and POCI only 11%. The average NIHSS scale has been 9 points to admission, 10 to 48 hours and 6 points at the time of discharge. Regarding brain scan on admission to 98% of the patients were performed while that between 48-72 hours alone to 74%. The most common initial tomographic CT findings have been: 49% lucency of more than 1/3 of middle cerebral artery territory, without alteration 46%, 8% cerebral edema data and 8% midline deviation. Hemorrhagic

  12. Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

    Science.gov (United States)

    2017-09-28

    ; Episodic Ataxia Type 7; Episodic Ataxia Type 6; Episodic Ataxia Type 5; Episodic Ataxia Type 4; Episodic Ataxia Type 3; Episodic Ataxia Type 1; Epilepsy and/or Ataxia With Myoclonus as Major Feature; Early-onset Spastic Ataxia-neuropathy Syndrome; Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity; Early-onset Cerebellar Ataxia With Retained Tendon Reflexes; Early-onset Ataxia With Dementia; Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia; Dilated Cardiomyopathy With Ataxia; Cataract - Ataxia - Deafness; Cerebellar Ataxia, Cayman Type; Cerebellar Ataxia With Peripheral Neuropathy; Cerebellar Ataxia - Hypogonadism; Cerebellar Ataxia - Ectodermal Dysplasia; Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss; Brain Tumor Ataxia; Brachydactyly - Nystagmus - Cerebellar Ataxia; Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia; Autosomal Recessive Syndromic Cerebellar Ataxia; Autosomal Recessive Spastic Ataxia With Leukoencephalopathy; Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria; Autosomal Recessive Spastic Ataxia; Autosomal Recessive Metabolic Cerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine; Autosomal Recessive Ataxia, Beauce Type; Autosomal Recessive Ataxia Due to Ubiquinone Deficiency; Autosomal Recessive Ataxia Due to PEX10 Deficiency; Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia; Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency; Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency; Autosomal Recessive Congenital Cerebellar Ataxia; Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency; Autosomal Recessive Cerebellar Ataxia

  13. Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

    Directory of Open Access Journals (Sweden)

    Farmer Jennifer M

    2010-10-01

    continual change brought about by a chronic disease 1213. The aforementioned impact of disability and chronic illness on transitional events may create psychological stress. Developed by Lazarus and Folkman, the Transitional Model of Stress and Coping describes the process of adaptation to a health condition 14. This model purports that individuals first appraise a stressor and then utilize a variety of coping strategies in order to meet the stressor's demands 14. Thus, in the context of chronic illness, the ability of the individual to cope successfully with the stress of a health threat contributes to the process of overall adaptation to the condition. The process of adaptation can be more complex when the chronic illness or disability is progressive. Each transition brought about or altered by the disability may also represent additional loss, including the loss of future plans, freedom in social life and the ability to participate in hobbies 15. These losses may be accompanied by grief, uncertainty, and a continual need for adaptation 1617. Friedreich ataxia (FRDA is one example of a progressive disorder, leading to adolescent and adult onset disability. To better understand patients' perceptions of key transitional events and the factors perceived to facilitate progression through these events, individuals with FRDA were interviewed. FRDA is a rare, progressive, neurodegenerative disorder affecting approximately one in 30,000 people in the United States 18. It equally affects both men and women. Individuals with FRDA experience progressive muscle weakness and loss of coordination in the arms and legs. For most patients, ataxia leads to motor incapacitation and full-time use of a wheelchair, commonly by the late teens or early twenties. Other complications such as vision and hearing impairment, dysarthria, scoliosis, diabetes mellitus and hypertrophic cardiomyopathy may occur 1920. Cardiomyopathy and respiratory difficulties often lead to premature death at an average