WorldWideScience

Sample records for apraxias

  1. Apraxia

    Science.gov (United States)

    Verbal apraxia; Dyspraxia; Speech disorder - apraxia; Childhood apraxia of speech; Apraxia of speech; Acquired apraxia ... Apraxia is caused by damage to the brain. When apraxia develops in a person who was previously ...

  2. Apraxia-Kids

    Science.gov (United States)

    ... Apraxia-KIDS Store Apraxia Awareness Items Video & Music Jewelry & Accessories Books & Cards Stay Connected Apraxia-KIDS E- ... Apraxia for Classmates & Friends (pack of 5) Accessories & Jewelry Child size Apraxia Awareness Wristbands (pack of 5) ...

  3. Conduction apraxia.

    Science.gov (United States)

    Ochipa, C; Rothi, L J; Heilman, K M

    1994-10-01

    A left hemisphere damaged patient with ideomotor apraxia is described, whose performance on pantomime to verbal command was superior to pantomime imitation. His reception of these same gestures (gesture naming) was spared. This syndrome has been named conduction apraxia. To account for this selective impaired performance on gesture imitation, a separation of the representations for gesture production and reception is proposed and a non-lexical gesture processing route for gesture imitation is suggested. PMID:7931387

  4. Update on Apraxia

    OpenAIRE

    Goldmann Gross, Rachel; Grossman, Murray

    2008-01-01

    Apraxia is classically defined as difficulty performing learned, skilled gestures. In this review, we describe the range of motor impairments classified as apraxia, focusing on ideomotor limb apraxia. We present several prominent models of praxis to explain the variety of difficulties seen in patients with apraxia. We also discuss the large-scale frontal-parietal-basal ganglia network thought to underlie praxis. In this context, we highlight the common occurrence of limb apraxia in corticobas...

  5. Apraxia of lid opening

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    Jebasingh Y

    2006-01-01

    Full Text Available Apraxia of lid opening is a condition where patients do not have ptosis but have difficulty in overcoming levator palpebrae inhibition. We report a patient who presented with difficulty in opening eyelids with out diurnal variation, ptosis or blepharospasm. The diagnosis of Apraxia of lid opening is confirmed by electro physiology. The possibility of apraxia of lid opening should be considered in patients who present with difficulty in opening eyes. Various causes of Apraxia of lid opening are discussed.

  6. Apraxias in neurodegenerative dementias

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    Sadanandavalli Retnaswami Chandra

    2015-01-01

    Full Text Available Background: Apraxia is a state of inability to carry out a learned motor act in the absence of motor, sensory or cerebellar defect on command processed through the Praxis circuit. Breakdown in default networking is one of the early dysfunction in cortical dementias and result in perplexity, awkwardness, omission, substitution errors, toying behavior and unrecognizable gestures in response to command with voluntary reflex dissociation where, when unobserved patient will carry out reflex movements normally. Awareness into the organicity of these phenomenas will help in early diagnosis, which will help in initiating appropriate treatment and slowing down the progression of the disease. Aims and Objectives: The aim was to look for the various kinds of apraxias in patients with dementia using appropriate simple tests. Patients and Methods: Three hundred patients satisfying Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for dementia were evaluated in detail with mandatory investigations for dementia followed by testing for ideational, ideomotor, limb-kinetic, buccopharyngeal, dressing apraxia, constructional apraxia and gait apraxias in addition to recording of rare apraxias when present. Results: Alzheimer′s disease showed maximum association with apraxias in all the phases of the disease ideational, ideomotor, dressing and constructional apraxias early and buccopharyngeal and gait apraxia late. Frontotemporal lobe dementia showed buccopharyngeal and gait apraxias late into the disease. Cortical basal ganglionic degeneration showed limb apraxias and diffuse Lewy body disease showed more agnosias and less apraxias common apraxias seen was Ideational and Ideomotor. Conclusion: Recognition of the apraxias help in establishing organicity, categorization, caregiver education, early strategies for treatment, avoiding anti-psychotics and introducing disease modifying pharmacotherapeutic agents and also prognosticating.

  7. Apraxia in deep cerebral lesions.

    OpenAIRE

    Agostoni, E; Coletti, A.; G. Orlando; Tredici, G

    1983-01-01

    In a series of 50 patients with cerebrovascular lesions (demonstrated with CT scan), seven patients had lesions located in the basal ganglia and/or thalamus. All these seven patients were apractic. Ideomotor apraxia was present in all patients; five also had constructional apraxia, and one had bucco-facial apraxia. None of the patients had utilisation apraxia. These observations indicated that apraxia is not only a "high cerebral (cortical) function", but may depend also on the integrity of s...

  8. Congenital Ocular Motor Apraxia

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    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  9. Congenital Ocular Motor Apraxia

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls) with congenital ocular motor apraxia (COMA) are reviewed by researchers at Tottori University, Yonago, Japan.

  10. Genetics Home Reference: ataxia with oculomotor apraxia

    Science.gov (United States)

    ... Genetics Home Health Conditions ataxia with oculomotor apraxia ataxia with oculomotor apraxia Enable Javascript to view the ... boxes. Download PDF Open All Close All Description Ataxia with oculomotor apraxia is a condition characterized by ...

  11. Congenital ocular motor apraxia

    OpenAIRE

    Carrasquinho, S; Teixeira, S.; Cadete, A; Bernardo, M.; Pêgo, P; Prieto, I.

    2008-01-01

    PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, metabolic deficits, and chromosomal abnormalities have been described. METHODS: Case report and review of the scienti...

  12. The nature of apraxia in corticobasal degeneration.

    OpenAIRE

    Leiguarda, R; Lees, A J; Merello, M.; Starkstein, S.; Marsden, C D

    1994-01-01

    Although apraxia is one of the most frequent signs in corticobasal degeneration, the phenomenology of this disorder has not been formally examined. Hence 10 patients with corticobasal degeneration were studied with a standardised evaluation for different types of apraxia. To minimise the confounding effects of the primary motor disorder, apraxia was assessed in the least affected limb. Whereas none of the patients showed buccofacial apraxia, seven showed deficits on tests of ideomotor apraxia...

  13. Childhood Apraxia of Speech Family Start Guide

    Science.gov (United States)

    ... Donations Fundraising Professional Friends Directory Corporate Sponsorship Apraxia STARS Shop to Help Events CASANA Sponsored Events Educational ... Watch Your Child with Apraxia Grow! Watch Your Child with CAS Grow You are already on the ...

  14. Crossed Apraxia of Speech: A Case Report

    Science.gov (United States)

    Balasubramanian, Venu; Max, Ludo

    2004-01-01

    The present study reports on the first case of crossed apraxia of speech (CAS) in a 69-year-old right-handed female (SE). The possibility of occurrence of apraxia of speech (AOS) following right hemisphere lesion is discussed in the context of known occurrences of ideomotor apraxias and acquired neurogenic stuttering in several cases with right…

  15. Limb apraxia in multiple sclerosis

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    Rapaić Dragan

    2014-01-01

    Full Text Available Background/Aim. There are almost no studies on apraxia in people with multiple sclerosis. Although the white matter is damaged in MS, it is not the only location in which the pathological changes are present. Demyelinated lesions in the cortex have recently been recognized as important components of multiple sclerosis pathology. The aim of this study was to determine whether apraxia is present among people with MS, and the importance of demographic characteristics and impairment of functional systems at conceptualization and execution of movements. Methods. The experimental group consisted of 30 patients, mean age 51.34 ± 7.70 years. The patients in the experimental group were diagnosed with MS according to the McDonald criteria. The control group consisted of 30 healthy subjects, mean age 50.30 ± 10.47 years. For research purposes, we used the following instruments: Questionnaire for Collecting Demographic Data, Kurtzke Functional Systems Scores, Waterloo-Sunnybrook Apraxia Battery (WatAB. Execution of motion tasks that are a part of the Watwere incorporated in the System for the Observation and Analysis of Motor Behavior. Results. Our study showed that limb apraxia was common in people with MS. Apraxia was present during pantomime in 26.70% of the patients, and during the imitation of movements in 44.80% of the patients. Gender, age, education level, duration of disease and a form of MS did not determine the quality of conceptualization and execution of movements. The time elapsed from the last exacerbation was a determinant of quality of executed movements. Impairments of functional systems predicted impairments of movement execution. The expanded disability scale score correlated with the severity of apraxia. Conclusion. Our study confirm the presence of apraxia in MS. It is necessary to carry out further studies using functional magnetic resonance imaging, as well as the conduct longitudinal studies to determine the precise structure of

  16. Loss of agency in apraxia

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    Mariella ePazzaglia

    2014-09-01

    Full Text Available The feeling of acting voluntarily is a fundamental component of human behavior and social life and is usually accompanied by a sense of agency. However, this ability can be impaired in a number of diseases and disorders. An important example is apraxia, a disturbance traditionally defined as a disorder of voluntary skillful movements that often results from frontal-parietal brain damage. The first part of this article focuses on direct evidence of some core symptoms of apraxia, emphasizing those with connections to agency and free will. The loss of agency in apraxia is reflected in the monitoring of internally driven action, in the perception of specifically self-intended movements and in the neural intention to act. The second part presents an outline of the evidences supporting the functional and anatomical link between apraxia and agency. The available structural and functional results converge to reveal that the frontal–parietal network contributes to the sense of agency and its impairment in disorders such as apraxia. The current knowledge on the generation of motor intentions and action monitoring could potentially be applied to develop therapeutic strategies for the clinical rehabilitation of voluntary action.

  17. Apraxia and the Parietal Lobes

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    Goldenberg, Georg

    2009-01-01

    The widely held belief in a central role of left parietal lesions for apraxia can be traced back to Liepmann's model of a posterior to anterior stream converting mental images of intended action into motor execution. Although this model has undergone significant changes, its modern descendants still attribute the parietal contribution to the…

  18. A Cognitive Overview of Limb Apraxia.

    Science.gov (United States)

    Bartolo, Angela; Ham, Heidi Stieglitz

    2016-08-01

    Since the first studies on limb apraxia carried out by Hugo Liepmann more than a century ago, research interests focused on the way humans process manual gestures by assessing gesture production after patients suffered neurologic deficits. Recent reviews centered their attention on deficits in gesture imitation or processing object-related gestures, namely pantomimes and transitive gestures, thereby neglecting communicative/intransitive gestures. This review will attempt to reconcile limb apraxia in its entirety. To this end, the existing cognitive models of praxis processing that have been designed to account for the complexity of this disorder will be taken into account, with an attempt to integrate in these models the latest findings in the studies of limb apraxia, in particular on meaningful gestures. Finally, this overview questions the very nature of limb apraxia when other cognitive deficits are observed. PMID:27349561

  19. Apraxia and motor dysfunction in corticobasal syndrome.

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    James R Burrell

    Full Text Available BACKGROUND: Corticobasal syndrome (CBS is characterized by multifaceted motor system dysfunction and cognitive disturbance; distinctive clinical features include limb apraxia and visuospatial dysfunction. Transcranial magnetic stimulation (TMS has been used to study motor system dysfunction in CBS, but the relationship of TMS parameters to clinical features has not been studied. The present study explored several hypotheses; firstly, that limb apraxia may be partly due to visuospatial impairment in CBS. Secondly, that motor system dysfunction can be demonstrated in CBS, using threshold-tracking TMS, and is linked to limb apraxia. Finally, that atrophy of the primary motor cortex, studied using voxel-based morphometry analysis (VBM, is associated with motor system dysfunction and limb apraxia in CBS. METHODS: Imitation of meaningful and meaningless hand gestures was graded to assess limb apraxia, while cognitive performance was assessed using the Addenbrooke's Cognitive Examination - Revised (ACE-R, with particular emphasis placed on the visuospatial subtask. Patients underwent TMS, to assess cortical function, and VBM. RESULTS: In total, 17 patients with CBS (7 male, 10 female; mean age 64.4+/- 6.6 years were studied and compared to 17 matched control subjects. Of the CBS patients, 23.5% had a relatively inexcitable motor cortex, with evidence of cortical dysfunction in the remaining 76.5% patients. Reduced resting motor threshold, and visuospatial performance, correlated with limb apraxia. Patients with a resting motor threshold <50% performed significantly worse on the visuospatial sub-task of the ACE-R than other CBS patients. Cortical function correlated with atrophy of the primary and pre-motor cortices, and the thalamus, while apraxia correlated with atrophy of the pre-motor and parietal cortices. CONCLUSIONS: Cortical dysfunction appears to underlie the core clinical features of CBS, and is associated with atrophy of the primary motor and

  20. Shared neural substrates of apraxia and aphasia.

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    Goldenberg, Georg; Randerath, Jennifer

    2015-08-01

    Apraxia is regularly associated with aphasia, but there is controversy whether their co-occurrence is the expression of a common basic deficit or results from anatomical proximity of their neural substrates. However, neither aphasia nor apraxia is an indivisible entity. Both diagnoses embrace diverse manifestations that may occur more or less independently from each other. Thus, the question whether apraxia is always accompanied by aphasia may lead to conflicting answers depending on which of their manifestations are considered. We used voxel based lesion symptom mapping (VLSM) for exploring communalities between lesion sites associated with aphasia and with apraxia. Linguistic impairment was assessed by the Aachen Aphasia Test (AAT) subtests naming, comprehension, repetition, written language, and Token Test. Apraxia was examined for imitation of meaningless hand and finger postures and for pantomime of tool use. There were two areas of overlap between aphasia and apraxia. Lesions in the anterior temporal lobe interfered with pantomime of tool use and with all linguistic tests. In the left inferior parietal lobe there was a large area where lesions were associated with defective imitation of hand postures and with poor scores on written language and the Token Test. Within this large area there were also two spots in supramarginal and angular gyrus where lesions were also associated with defective pantomime. We speculate that the coincidence of language impairment and defective pantomime after anterior temporal lesions is due to impaired access to semantic memory. The combination of defective imitation of hand postures with poor scores on Token Test and written language is not easily compatible with a crucial role of parietal regions for the conversion of concepts of intended actions into motor commands. It accords better with a role of left inferior parietal lobe regions for the categorical perception of spatial relationships. PMID:26004063

  1. Apraxia of Speech: Concepts and Controversies

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    Ziegler, Wolfram; Aichert, Ingrid; Staiger, Anja

    2012-01-01

    Purpose: This article was written as an editorial to a collection of original articles on apraxia of speech (AOS) in which some of the more recent advancements in the understanding of this syndrome are discussed. It covers controversial issues concerning the theoretical foundations of AOS. Our approach was motivated by a change of perspective on…

  2. Cognitive Functions in Childhood Apraxia of Speech

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    Nijland, Lian; Terband, Hayo; Maassen, Ben

    2015-01-01

    Purpose: Childhood apraxia of speech (CAS) is diagnosed on the basis of specific speech characteristics, in the absence of problems in hearing, intelligence, and language comprehension. This does not preclude the possibility that children with this speech disorder might demonstrate additional problems. Method: Cognitive functions were investigated…

  3. Treatment Intensity and Childhood Apraxia of Speech

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    Namasivayam, Aravind K.; Pukonen, Margit; Goshulak, Debra; Hard, Jennifer; Rudzicz, Frank; Rietveld, Toni; Maassen, Ben; Kroll, Robert; van Lieshout, Pascal

    2015-01-01

    Background: Intensive treatment has been repeatedly recommended for the treatment of speech deficits in childhood apraxia of speech (CAS). However, differences in treatment outcomes as a function of treatment intensity have not been systematically studied in this population. Aim: To investigate the effects of treatment intensity on outcome…

  4. Lack of Awareness for Spatial and Verbal Constructive Apraxia

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    Rinaldi, Maria Cristina; Piras, Federica; Pizzamiglio, Luigi

    2010-01-01

    It is still a matter of debate whether constructive apraxia (CA) should be considered a form of apraxia or, rather, the motor expression of a more pervasive impairment in visuo-spatial processing. Constructive disorders were linked to visuo-spatial disorders and to deficits in appreciating spatial relations among component sub-parts or problems in…

  5. Computed tomography in congenital ocular motor apraxia

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    Eda, I.; Takashima, S.; Kitahara, T.; Ohno, K.; Takeshita, K.

    1984-09-01

    Unusual computed tomographic findings were observed in four patients with congenital ocular motor apraxia (COMA). These (CT) findings were characteristic in the posterior cranial fossa, with a dilated or deformed shape and size of the fourth ventricle, particularly its upper portion. One case revealed partial agenesis of the cerebellar vermis. It was suggested that the four patients subjected to CT showed abnormal topography of the cerebellar vermis or the brain stem. We postulate that these CT findings in COMA may have an important role in its pathogenesis.

  6. Upper and Lower Face and Ideomotor Apraxia in Patients with Alzheimer’s Disease

    OpenAIRE

    Jay Guido Capone; Sergio Della Sala; Hans Spinnler; Annalena Venneri

    2003-01-01

    Introduction: Apraxia of face movement in Alzheimer's disease (AD) has been rarely investigated. This study aimed at investigating the frequency of lower (mouth, tongue and throat) and upper (eyes and eyebrows) face apraxia, in AD and its relationship with limb apraxia and severity of dementia.Methods: Fifty seven patients with AD were tested with a new standardised test of face apraxia including upper and lower face movements, which uses an item-difficulty weigthed scoring procedure, the IMA...

  7. Upper and Lower Face and Ideomotor Apraxia in Patients with Alzheimer’s Disease

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    Jay Guido Capone

    2003-01-01

    Full Text Available Introduction: Apraxia of face movement in Alzheimer's disease (AD has been rarely investigated. This study aimed at investigating the frequency of lower (mouth, tongue and throat and upper (eyes and eyebrows face apraxia, in AD and its relationship with limb apraxia and severity of dementia.

  8. Ideomotor Apraxia Due to Injury of the Superior Longitudinal Fasciculus.

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    Jang, Sung Ho; Jang, Woo Hyuk

    2016-08-01

    We report on a patient who showed ideomotor apraxia due to injury of the superior longitudinal fasciculus following brain tumor and tumor bleeding, which was demonstrated by diffusion tensor tractography (DTT). A 60-yr-old, right-handed male patient underwent removal of brain meningioma and drainage of intraventricular hemorrhage and intracerebral hemorrhage in the left fronto-parietal lobe. At the time of DTT scanning (5 wk after onset), he was able to move the right upper extremity against gravity. The patient exhibited an intact ideational plan for motor performance. In addition, he was able to use actual objects (scissors, eraser) using his right wrist and hand. However, he had difficulty in using his right upper extremity for pantomime of object use, imitating gestures (meaningless or meaningful), and movement of his right upper extremity proximal. Score on the ideomotor apraxia test for the right side was 4 (cut-off score apraxia in this patient. PMID:27003199

  9. Sensitivity of different ADL measures to apraxia and motor impairments

    NARCIS (Netherlands)

    Donkervoort, M; Dekker, J; Deelman, BG

    2002-01-01

    Objective: To determine whether specifically designed activities of daily living (ADL) observations can measure disability due to apraxia with more sensitivity than the Barthel ADL Index, a conventional functional scale. Design: Cross-sectional study. Setting: Rehabilitation centres and nursing home

  10. A Treatment for Dysprosody in Childhood Apraxia of Speech

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    Ballard, Kirrie J.; Robin, Donald A.; McCabe, Patricia; McDonald, Jeannie

    2010-01-01

    Purpose: Dysprosody is considered a core feature of childhood apraxia of speech (CAS), especially impaired production of lexical stress. Few studies have tested the effects of intervention for dysprosody. This Phase II study with 3 children investigated the efficacy of a treatment targeting improved control of relative syllable durations in…

  11. Differential Diagnosis of Children with Suspected Childhood Apraxia of Speech

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    Murray, Elizabeth; McCabe, Patricia; Heard, Robert; Ballard, Kirrie J.

    2015-01-01

    Purpose: The gold standard for diagnosing childhood apraxia of speech (CAS) is expert judgment of perceptual features. The aim of this study was to identify a set of objective measures that differentiate CAS from other speech disorders. Method: Seventy-two children (4-12 years of age) diagnosed with suspected CAS by community speech-language…

  12. Goal-directed imitation in patients with ideomotor apraxia

    NARCIS (Netherlands)

    Bekkering, H; Brass, M; Woschina, S; Jacobs, AM

    2005-01-01

    The present study compared imitation performance in patients with ideomotor apraxia (IMA), eight right hemispheric-damaged patients, and eight control participants without neurological damage in three experiments. Experiment 1 confirmed in the Goldenberg test that IMA patients were particularly impa

  13. Bite Block Vowel Production in Apraxia of Speech

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    Jacks, Adam

    2008-01-01

    Purpose: This study explored vowel production and adaptation to articulatory constraints in adults with acquired apraxia of speech (AOS) plus aphasia. Method: Five adults with acquired AOS plus aphasia and 5 healthy control participants produced the vowels [iota], [epsilon], and [ash] in four word-length conditions in unconstrained and bite block…

  14. Encoding, Memory, and Transcoding Deficits in Childhood Apraxia of Speech

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    Shriberg, Lawrence D.; Lohmeier, Heather L.; Strand, Edythe A.; Jakielski, Kathy J.

    2012-01-01

    A central question in Childhood Apraxia of Speech (CAS) is whether the core phenotype is limited to transcoding (planning/programming) deficits or if speakers with CAS also have deficits in auditory-perceptual "encoding" (representational) and/or "memory" (storage and retrieval of representations) processes. We addressed this and other questions…

  15. Error Variability in Apraxia of Speech: A Matter of Controversy

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    Staiger, Anja; Finger-Berg, Wolf; Aichert, Ingrid; Ziegler, Wolfram

    2012-01-01

    Purpose: Error variability has traditionally been considered a hallmark of apraxia of speech (AOS). However, in some of the current AOS literature, relatively invariable error patterns are claimed as a mandatory criterion for a diagnosis of AOS. This paradigm shift has far-reaching consequences for our understanding of the disorder and for its…

  16. Vowel Acoustics in Adults with Apraxia of Speech

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    Jacks, Adam; Mathes, Katey A.; Marquardt, Thomas P.

    2010-01-01

    Purpose: To investigate the hypothesis that vowel production is more variable in adults with acquired apraxia of speech (AOS) relative to healthy individuals with unimpaired speech. Vowel formant frequency measures were selected as the specific target of focus. Method: Seven adults with AOS and aphasia produced 15 repetitions of 6 American English…

  17. Oral Articulatory Control in Childhood Apraxia of Speech

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    Grigos, Maria I.; Moss, Aviva; Lu, Ying

    2015-01-01

    Purpose: The purpose of this research was to examine spatial and temporal aspects of articulatory control in children with childhood apraxia of speech (CAS), children with speech delay characterized by an articulation/phonological impairment (SD), and controls with typical development (TD) during speech tasks that increased in word length. Method:…

  18. Script Training Treatment for Adults with Apraxia of Speech

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    Youmans, Gina; Youmans, Scott R.; Hancock, Adrienne B.

    2011-01-01

    Purpose: Outcomes of script training for individuals with apraxia of speech (AOS) and mild anomic aphasia were investigated. Script training is a functional treatment that has been successful for individuals with aphasia but has not been applied to individuals with AOS. Principles of motor learning were incorporated into training to promote…

  19. Feedback Frequency in Treatment for Childhood Apraxia of Speech

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    Maas, Edwin; Butalla, Christine E.; Farinella, Kimberly A.

    2012-01-01

    Purpose: To examine the role of feedback frequency in treatment for childhood apraxia of speech (CAS). Reducing the frequency of feedback enhances motor learning, and recently, such feedback frequency reductions have been recommended for the treatment of CAS. However, no published studies have explicitly compared different feedback frequencies in…

  20. Aerodynamic Indices of Velopharyngeal Function in Childhood Apraxia of Speech

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    Sealey, Linda R.; Giddens, Cheryl L.

    2010-01-01

    Childhood apraxia of speech (CAS) is characterized as a deficit in the motor processes of speech for the volitional control of the articulators, including the velum. One of the many characteristics attributed to children with CAS is intermittent or inconsistent hypernasality. The purpose of this study was to document differences in velopharyngeal…

  1. Clinical and Anatomical Correlates of Apraxia of Speech

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    Ogar, Jennifer; Willock, Sharon; Baldo, Juliana; Wilkins, David; Ludy, Carl; Dronkers, Nina

    2006-01-01

    In a previous study (Dronkers, 1996), stroke patients identified as having apraxia of speech (AOS), an articulatory disorder, were found to have damage to the left superior precentral gyrus of the insula (SPGI). The present study sought (1) to characterize the performance of patients with AOS on a classic motor speech evaluation, and (2) to…

  2. Rehabilitation of stroke patients with apraxia: the role of additional cognitive and motor impairments.

    OpenAIRE

    van Heugten, C.M.; Dekker, J; Deelman, B.G.; Stehmann-Saris, J.C.; Kinebanian, A.

    2000-01-01

    PURPOSE: The present study investigated which additional cognitive and motor impairments were present in stroke patients with apraxia and which of these factors influenced the effects of treatment. METHOD: A group of 33 patients with apraxia were treated according to the guidelines of a therapy programme based on teaching patients strategies to compensate for the presence of apraxia. Patients were treated at occupational therapy departments in general hospitals, rehabilitation centres and nur...

  3. Expanding the ataxia with oculomotor apraxia type 4 phenotype.

    Science.gov (United States)

    Paucar, Martin; Malmgren, Helena; Taylor, Malcolm; Reynolds, John J; Svenningsson, Per; Press, Rayomand; Nordgren, Ann

    2016-02-01

    Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder recently delineated in a Portuguese cohort and caused by mutations in the PNKP (polynucleotide kinase 3'-phosphatase) gene.(1) AOA4 is a progressive, complex movement disorder that includes hyperkinetic features, eye movement abnormalities, polyneuropathy, varying degrees of cognitive impairment, and obesity. PNKP mutations were initially discovered to be the cause of the severe nonprogressive syndrome microcephaly, early-onset intractable seizures, and developmental delay (MCSZ).(2) Here we describe a patient with compound heterozygous PNKP mutations presenting with an AOA4 phenotype. New features that we report include both mutations, presence of chorea, absence of oculomotor apraxia (OMA), and slow disease progression. PMID:27066586

  4. A case of crossed aphasia with apraxia of speech

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    Yogesh Patidar

    2013-01-01

    Full Text Available Apraxia of speech (AOS is a rare, but well-defined motor speech disorder. It is characterized by irregular articulatory errors, attempts of self-correction and persistent prosodic abnormalities. Similar to aphasia, AOS is also localized to the dominant cerebral hemisphere. We report a case of Crossed Aphasia with AOS in a 48-year-old right-handed man due to an ischemic infarct in right cerebral hemisphere.

  5. The course of apraxia and ADL functioning in left hemisphere stroke patients treated in rehabilitation centres and nursing homes

    NARCIS (Netherlands)

    Donkervoort, Mireille; Dekker, Joost; Deelman, Bet-To

    2006-01-01

    Objective: To study the course of apraxia and daily life functioning ADL) in left hemisphere stroke patients with apraxia. Design: Prospective cohort study. Setting: Rehabilitation centres and nursing homes. Subjects: One hundred and eight left hemisphere stroke patients with apraxia, hospitalized i

  6. The course of apraxia and ADL functioning in left hemisphere stroke patients treated in rehabilitation centres and nursing homes.

    NARCIS (Netherlands)

    Donkervoort, M.; Dekker, J.; Deelman, B.

    2006-01-01

    OBJECTIVE: To study the course of apraxia and daily life functioning (ADL) in left hemisphere stroke patients with apraxia. DESIGN: Prospective cohort study. SETTING: Rehabilitation centres and nursing homes. SUBJECTS: One hundred and eight left hemisphere stroke patients with apraxia, hospitalized

  7. Right putamen hemorrhage manifesting as apraxia of eyelid opening

    Directory of Open Access Journals (Sweden)

    Lin YH

    2013-09-01

    Full Text Available Yi-Hui Lin,1 Li-Min Liou,2,3 Chiou-Lian Lai,1,2 Yang-Pei Chang1,2 1Department of Neurology, Kaohsiung Medical University Hospital, 2Department of Neurology, Faculty of Medicine, College of Medicine, Kaohsiung Medical University, 3Department of Neurology, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan Purpose: The purpose of this report is to demonstrate a rare clinical manifestation of apraxia eyelid opening related to a basal ganglia lesion. Case report: In this study, we report a 91-year-old woman suffering from difficulty in eyelid opening after being treated for myocardial ischemia with dual antiplatelet medications. She could open her eyelid with fingers touching her forehead. Brain computed tomography revealed a right putamen hemorrhage. Surface electromyography revealed persistent frontalis muscle contraction during relaxation of orbicularis oculi muscles. Apraxia of eyelid opening was diagnosed. Her eyelid symptom resolved 2 months later. Conclusion: Apraxia of eyelid opening may be caused by subcortical hemorrhage of the basal ganglia. In addition to the primary motor cortex and supplemental motor area, the basal ganglia may also play a role in eyelid opening. Keywords: intracranial hemorrhage, basal ganglia, orbicularis oculi muscle, frontalis muscle

  8. Assessment of Nonverbal and Verbal Apraxia in Patients with Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Monia Presotto

    2015-01-01

    Full Text Available Objective. To assess the presence of nonverbal and verbal apraxia in patients with Parkinson’s disease (PD and analyze the correlation between these conditions and patient age, education, duration of disease, and PD stage, as well as evaluate the correlation between the two types of apraxia and the frequency and types of verbal apraxic errors made by patients in the sample. Method. This was an observational prevalence study. The sample comprised 45 patients with PD seen at the Movement Disorders Clinic of the Clinical Hospital of Porto Alegre, Brazil. Patients were evaluated using the Speech Apraxia Assessment Protocol and PD stages were classified according to the Hoehn and Yahr scale. Results. The rate of nonverbal apraxia and verbal apraxia in the present sample was 24.4%. Verbal apraxia was significantly correlated with education (p≤0.05. The most frequent types of verbal apraxic errors were omissions (70.8%. The analysis of manner and place of articulation showed that most errors occurred during the production of trill (57.7% and dentoalveolar (92% phonemes, consecutively. Conclusion. Patients with PD presented nonverbal and verbal apraxia and made several verbal apraxic errors. Verbal apraxia was correlated with education levels.

  9. Assessment of Nonverbal and Verbal Apraxia in Patients with Parkinson's Disease.

    Science.gov (United States)

    Presotto, Monia; Olchik, Maira Rozenfeld; Shumacher Shuh, Artur Francisco; Rieder, Carlos R M

    2015-01-01

    Objective. To assess the presence of nonverbal and verbal apraxia in patients with Parkinson's disease (PD) and analyze the correlation between these conditions and patient age, education, duration of disease, and PD stage, as well as evaluate the correlation between the two types of apraxia and the frequency and types of verbal apraxic errors made by patients in the sample. Method. This was an observational prevalence study. The sample comprised 45 patients with PD seen at the Movement Disorders Clinic of the Clinical Hospital of Porto Alegre, Brazil. Patients were evaluated using the Speech Apraxia Assessment Protocol and PD stages were classified according to the Hoehn and Yahr scale. Results. The rate of nonverbal apraxia and verbal apraxia in the present sample was 24.4%. Verbal apraxia was significantly correlated with education (p ≤ 0.05). The most frequent types of verbal apraxic errors were omissions (70.8%). The analysis of manner and place of articulation showed that most errors occurred during the production of trill (57.7%) and dentoalveolar (92%) phonemes, consecutively. Conclusion. Patients with PD presented nonverbal and verbal apraxia and made several verbal apraxic errors. Verbal apraxia was correlated with education levels. PMID:26543663

  10. Rehabilitation of stroke patients with apraxia: the role of additional cognitive and motor impairments.

    NARCIS (Netherlands)

    Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Stehmann-Saris, J.C.; Kinebanian, A.

    2000-01-01

    PURPOSE: The present study investigated which additional cognitive and motor impairments were present in stroke patients with apraxia and which of these factors influenced the effects of treatment. METHOD: A group of 33 patients with apraxia were treated according to the guidelines of a therapy prog

  11. Rehabilitation of stroke patients with apraxia : the role of additional cognitive and motor impairments

    NARCIS (Netherlands)

    van Heugten, CM; Dekker, J; Deelman, BG; Stehmann-Saris, JC; Kinebanian, A

    2000-01-01

    Purpose : The present study investigated which additional cognitive and motor impairments were present in stroke patients with apraxia and which of these factors influenced the effects of treatment. Method: A group of 33 patients with apraxia were treated according to the guidelines of a therapy pro

  12. Mismatch Negativity Responses in Children with a Diagnosis of Childhood Apraxia of Speech (CAS)

    Science.gov (United States)

    Froud, Karen; Khamis-Dakwar, Reem

    2012-01-01

    Purpose: To evaluate whether a hypothesis suggesting that apraxia of speech results from phonological overspecification could be relevant for childhood apraxia of speech (CAS). Method: High-density EEG was recorded from 5 children with CAS and 5 matched controls, ages 5-8 years, with and without CAS, as they listened to randomized sequences of CV…

  13. Efficacy of strategy training in left hemisphere stroke patients with apraxia : A randomised clinical trial

    NARCIS (Netherlands)

    Donkervoort, M; Dekker, J; Stehmann-Saris, FC; Deellman, BG

    2001-01-01

    The objective of the present study was to determine in a controlled study the efficacy of strategy training in left hemisphere stroke patients with apraxia. A total of 113 left hemisphere stroke patients with apraxia were randomly assigned to two treatment groups; (1) strategy training integrated in

  14. Outcome of strategy training in stroke patients with apraxia: a phase II study.

    NARCIS (Netherlands)

    Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Dijk, A.J. van; Stehmann-Saris, J.C.; Kinebanian, A.

    1998-01-01

    Objective: Evaluation of a therapy programme for srorke patients with apraxia. The programme is based on teaching patients strategies to compensate for the presence of apraxia. This programme was designed for assessment and treatment by occupational therapists. Design: The outcome was studied in de

  15. Efficacy of strategy training in left hemisphere stroke patients with apraxia: a randomised clinical trial.

    NARCIS (Netherlands)

    Donkervoort, M.; Dekker, J.; Stehmann-Saris, F.C.; Deelman, B.G.

    2001-01-01

    The objective of the present study was to determine in a controlled study the efficacy of strategy training in left hemisphere stroke patients with apraxia. A total of 113 left hemisphere stroke patients with apraxia were randomly assigned to two treatment groups; (1) strategy training integrated in

  16. Manual and oral apraxia in acute stroke, frequency and influence on functional outcome

    DEFF Research Database (Denmark)

    Pedersen, P M; Jørgensen, H S; Kammersgaard, L P;

    2001-01-01

    To determine the frequency of manual and oral apraxia in acute stroke and to examine the influence of these symptoms on functional outcome.......To determine the frequency of manual and oral apraxia in acute stroke and to examine the influence of these symptoms on functional outcome....

  17. Apraxia for differentiating Alzheimer’s disease from subcortical vascular dementia and mild cognitive impairment

    Directory of Open Access Journals (Sweden)

    Ozkan S

    2013-07-01

    Full Text Available Serhat Ozkan,1 Demet Ozbabalik Adapinar,1 Nese Tuncer Elmaci,2 Didem Arslantas31Department of Neurology, Eskisehir Osmangazi University Medical Faculty, Eskisehir, Turkey; 2Department of Neurology, Marmara University Medical Faculty, Istanbul, Turkey; 3Department of Public Health, Eskisehir Osmangazi University Medical Faculty, Eskisehir, TurkeyAbstract: Although ideomotor limb apraxia is considered to be a typical sign of cortical pathologies such as Alzheimer’s disease (AD, it has been also reported in subcortical neurodegenerative diseases and vascular lesions. We aimed to investigate the difference between AD, subcortical vascular dementia (SVaD and mild cognitive impairment (MCI patients by means of ideomotor limb apraxia frequency and severity. Ninety-six AD, 72 SVaD, and 84 MCI patients were assessed with the mini-mental status examination (MMSE, clinical dementia rating (CDR and the apraxia screening test of TULIA (AST. Apraxia was significantly more frequent in the AD patients (32.3% than in both of the SVaD (16.7% and MCI (4.8% patients. The frequency of apraxia was also significantly higher in SVaD patients than in MCI patients. AD patients had significantly lower apraxia scores than both SVaD and MCI patients. In addition, a significant difference was found between SVaD and MCI patients in terms of apraxia scores. These results suggest that the widespread belief of the association between apraxia and cortical dementias is not exactly correct. The significant difference between both of the dementia groups and the MCI patients suggests that the absence of apraxia can be an indicator for MCI diagnosis.Keywords: apraxia, Alzheimer’s disease, subcortical vascular dementia, mild cognitive impairment

  18. Evolutionary autonomous agents and the nature of apraxia

    Directory of Open Access Journals (Sweden)

    Jin Frank

    2005-01-01

    Full Text Available Abstract Background Evolutionary autonomous agents are robots or robot simulations whose controller is a dynamical neural network and whose evolution occurs autonomously under the guidance of a fitness function without the detailed or explicit direction of an external programmer. They are embodied agents with a simple neural network controller and as such they provide the optimal forum by which sensorimotor interactions in a specified environment can be studied without the computational assumptions inherent in standard neuroscience. Methods Evolutionary autonomous agents were evolved that were able to perform identical movements under two different contexts, one which represented an automatic movement and one which had a symbolic context. In an attempt to model the automatic-voluntary dissociation frequently seen in ideomotor apraxia, lesions were introduced into the neural network controllers resulting in a behavioral dissociation with loss of the ability to perform the movement which had a symbolic context and preservation of the simpler, automatic movement. Results Analysis of the changes in the hierarchical organization of the networks in the apractic EAAs demonstrated consistent changes in the network dynamics across all agents with loss of longer duration time scales in the network dynamics. Conclusion The concepts of determinate motor programs and perceptual representations that are implicit in the present day understanding of ideomotor apraxia are assumptions inherent in the computational understanding of brain function. The strength of the present study using EAAs to model one aspect of ideomotor apraxia is the absence of these assumptions and a grounding of all sensorimotor interactions in an embodied, autonomous agent. The consistency of the hierarchical changes in the network dynamics across all apractic agents demonstrates that this technique is tenable and will be a valuable adjunct to a computational formalism in the understanding

  19. The tool in the brain: Apraxia in ADL.

    Directory of Open Access Journals (Sweden)

    Marta M. N. Bienkiewicz

    2014-04-01

    Full Text Available Humans differ from other animals in the way they can skilfully and precisely operate or invent tools to facilitate their everyday life. Tools have dominated our home, travel and work environment, becoming an integral step for our motor skills development. What happens when the part of the brain responsible for tool use is damaged in our adult life due to a cerebrovascular accident? How does daily life change when we lose the previously mastered ability to make use of the objects around us? How do patients suffering from compromised tool use cope with food preparation, personal hygiene, grooming, housework or use of home appliances? In this literature review we present a state of the art for single and multiple tool use research, with a focus on the impact that apraxia (impaired ability to perform tool-based actions and action disorganisation syndrome (impaired ability to carry our multi-step actions have on activities of daily living (ADL. Firstly, we summarise the behavioural studies investigating the impact of apraxia and other comorbidity syndromes, such as neglect or visual extinction, on ADL. We discuss the hallmarks of the compromised tool use in terms of the sequencing of action steps, conceptual errors committed, spatial motor control and temporal organisation of the movement. In addition, we present an up-to-date overview of the neuroimaging and lesion analyses studies that provide an insight into neural correlates of tool use in the human brain and functional changes in the neural organisation following a stroke, in the context of ADL. Finally we discuss the current practice in neurorehabilitation of ADL in apraxia and action disorganisation syndrome aiming at increasing patients’ independence.

  20. Aripiprazole Can Improve Apraxia of Eyelid Opening in Parkinson's Disease.

    Science.gov (United States)

    Tokisato, Kaori; Fukunaga, Kimiko; Tokunaga, Makoto; Watanabe, Susumu; Nakanishi, Ryoji; Yamanaga, Hiroaki

    2015-01-01

    We herein report three cases of Parkinson's disease associated with difficulty in eyelid opening, referred to as apraxia of eyelid opening (AEO), which improved after aripiprazole treatment. In case 1, aripiprazole was administered as a psychiatric treatment. It proved to be effective in AEO with blepharospasm. In case 2 and case 3, the patients experienced AEO without blepharospasm, and a significant improvement was observed after aripiprazole treatment. In this study, the aripiprazole dosage ranged between 3 and 9 mg/day. This is the first report of aripiprazole as a potentially effective treatment for AEO in Parkinson's disease. PMID:26631893

  1. Callosal apraxia: a 34-year follow-up study.

    Science.gov (United States)

    Falchook, Adam D; Watson, Robert T; Heilman, Kenneth M

    2016-06-01

    Loss of ability of the left upper limb (LUL) to correctly produce spatial and temporal components of skilled purposeful movements was reported 34 years ago in a woman with a callosal infarction. To learn about recovery, we recently reexamined this woman. This woman was tested for ideomotor apraxia by asking her to pantomime to command and to seeing pictures of tools. Whereas she performed normally with her right upper limb, her LUL remained severely apraxic, making many spatial (postural and movement) errors. Initially, she did not reveal loss of finger-hand deftness (limb-kinetic apraxia), and when tested again with the coin rotation task, her left hand performance was normal. Without vision, she could name objects placed in her left hand but not name numbers written in this hand. Since this woman had a callosal lesion, failure to recover cannot be accounted for by left hemisphere inhibition of her right hemisphere. Although failure for her LUL to improve may have been related to not using her LUL for skilled actions, her right hemisphere was able to observe transitive actions, and this failure of her LUL to produce skilled purposeful movements suggests her right hemisphere may have not had the capacity to learn these movement representations. Without vision, her ability to recognize objects with her left hand, but not numbers written on her left palm, suggests graphesthesia may require that her left hand did not have access to movement representations important for programming these numbers when writing. PMID:26928117

  2. Cerebral metabolic abnormalities in children with congenital oculomotor apraxia

    Energy Technology Data Exchange (ETDEWEB)

    Jang, Sung June; Kim, Yu Kyoong; Oh, Yeong Mi; Song, Yoo Sung; Kim, Ji Soo; Lee, Won Woo; Kim, Sang Eun [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    2007-07-01

    Congenital ocular motor apraxia (COMA) is a rare impairment of saccadic eye movement in horizontal direction. The typical symptom is poor vision or compensatory head thrusting movement. In this study, we investigate the brain metabolic changes in children with COMA using FDG PET. Brain FDG PET studies were performed in 6 children (mean age: 5.82.1 years, M: F=5: 1) with typical COMA by clinical diagnosis. For comparison purpose, age-matched healthy subjects (mean age: 6.42.2 years, M: F = 4: 1) were selected among sibling. Measures of significant difference in cerebral metabolism between the patients and control group were determined using statistical parametric mapping (SPM2). Four of six had the structural abnormalities limited in the cerebellar vermis, and the other two had no structural lesion. FDG PET of patients revealed the significant regional hypometabolism in the left inferior parietal lobule (BA 40) and the bilateral occipital cortices as well as cerebellar vermis (P < 0.005, k=100) in comparison with healthy control group. Meanwhile, hypermetabolism was observed in the right precentral gyrus (BA 6), bilateral frontal gyri (BA 8/BA 10). FDG PET could demonstrate the regional metabolic changes in patients with congenital motor apraxia, which may indicate the functional disturbance in the brain regions related with saccadic eye movement and the compensatory hyperfunction in their head motion.

  3. Callosal apraxia: a 34-year follow-up study.

    Science.gov (United States)

    Falchook, Adam D; Watson, Robert T; Heilman, Kenneth M

    2016-06-01

    Loss of ability of the left upper limb (LUL) to correctly produce spatial and temporal components of skilled purposeful movements was reported 34 years ago in a woman with a callosal infarction. To learn about recovery, we recently reexamined this woman. This woman was tested for ideomotor apraxia by asking her to pantomime to command and to seeing pictures of tools. Whereas she performed normally with her right upper limb, her LUL remained severely apraxic, making many spatial (postural and movement) errors. Initially, she did not reveal loss of finger-hand deftness (limb-kinetic apraxia), and when tested again with the coin rotation task, her left hand performance was normal. Without vision, she could name objects placed in her left hand but not name numbers written in this hand. Since this woman had a callosal lesion, failure to recover cannot be accounted for by left hemisphere inhibition of her right hemisphere. Although failure for her LUL to improve may have been related to not using her LUL for skilled actions, her right hemisphere was able to observe transitive actions, and this failure of her LUL to produce skilled purposeful movements suggests her right hemisphere may have not had the capacity to learn these movement representations. Without vision, her ability to recognize objects with her left hand, but not numbers written on her left palm, suggests graphesthesia may require that her left hand did not have access to movement representations important for programming these numbers when writing.

  4. Improved Necker Cube Drawing-Based Assessment Battery for Constructional Apraxia: The Mie Constructional Apraxia Scale (MCAS

    Directory of Open Access Journals (Sweden)

    Masayuki Satoh

    2016-09-01

    Full Text Available Background/Aims: Constructional apraxia (CA is usually diagnosed by having patients draw figures; however, the reported assessments only evaluate the drawn figure. We designed a new assessment battery for CA (the Mie Constructional Apraxia Scale, MCAS which includes both the shape and drawing process, and investigated its utility against other assessment methods. Methods: We designed the MCAS, and evaluated inter- and intrarater reliability. We also investigated the sensitivity, specificity, and positive and negative predictive values in dementia patients, and compared MCAS assessment with other reported batteries in the same subjects. Results: Moderate interrater reliability was shown for speech therapists with limited experience. Moderate to substantial intrarater reliability was shown several weeks after initial assessment. When cutoff scores and times were set at 2/3 points and 39/40 s, sensitivity and specificity were 77.1 and 70.4%, respectively, with positive and negative predictive values of 80.0 and 66.7%, respectively. Dementia patients had significantly worse scores and times for Necker cube drawing than an elderly control group on the MCAS, and on other assessments. Conclusions: We conclude that the MCAS, which includes both the assessment of the drawn Necker cube shape and the drawing process, is useful for detecting even mild CA.

  5. Impaired communication between the dorsal and ventral stream: indications from apraxia

    OpenAIRE

    Carys eEvans; Martin Gareth Edwards; Lawrence eTaylor; Magdalena eIetswaart

    2016-01-01

    Patients with apraxia perform poorly when demonstrating how an object is used, particularly when pantomiming the action. However, these patients are able to accurately identify, and to pick up and move objects, demonstrating intact ventral and dorsal stream visuomotor processing. Appropriate object manipulation for skilled use is thought to rely on integration of known and visible object properties associated with ‘ventro-dorsal’ stream neural processes. In apraxia, it has been suggested that...

  6. Impaired Communication Between the Dorsal and Ventral Stream: Indications from Apraxia

    OpenAIRE

    Evans, Carys; Edwards, Martin G.; Taylor, Lawrence J.; Ietswaart, Magdalena

    2016-01-01

    Patients with apraxia perform poorly when demonstrating how an object is used, particularly when pantomiming the action. However, these patients are able to accurately identify, and to pick up and move objects, demonstrating intact ventral and dorsal stream visuomotor processing. Appropriate object manipulation for skilled use is thought to rely on integration of known and visible object properties associated with “ventro-dorsal” stream neural processes. In apraxia, it has been suggested that...

  7. The Representation of Objects in Apraxia: From Action Execution to Error Awareness.

    Science.gov (United States)

    Canzano, Loredana; Scandola, Michele; Gobbetto, Valeria; Moretto, Giuseppe; D'Imperio, Daniela; Moro, Valentina

    2016-01-01

    Apraxia is a well-known syndrome characterized by the sufferer's inability to perform routine gestures. In an attempt to understand the syndrome better, various different theories have been developed and a number of classifications of different subtypes have been proposed. In this article review, we will address these theories with a specific focus on how the use of objects helps us to better understand upper limb apraxia. With this aim, we will consider transitive vs. intransitive action dissociation as well as less frequent types of apraxia involving objects, i.e., constructive apraxia and magnetic apraxia. Pantomime and the imitation of objects in use are also considered with a view to dissociating the various different components involved in upper limb apraxia. Finally, we discuss the evidence relating to action recognition and awareness of errors in the execution of actions. Various different components concerning the use of objects emerge from our analysis and the results show that knowledge of an object and sensory-motor representations are supported by other functions such as spatial and body representations, executive functions and monitoring systems. PMID:26903843

  8. Selective deficit of praxis imagery in ideomotor apraxia.

    Science.gov (United States)

    Ochipa, C; Rapcsak, S Z; Maher, L M; Rothi, L J; Bowers, D; Heilman, K M

    1997-08-01

    We studied imagery for learned, skilled movements (praxis imagery) in a patient with severe ideomotor apraxia and intact language abilities. This patient, who made predominantly spatial and movement errors when performing transitive movements demonstrating the use of tools (transitive gestures), was also impaired in her ability to answer imagery questions about joint movement or the spatial position of the hands during action. However, visual object imagery was spared. The finding of parallel praxis production and praxis imagery deficits in this patient suggests that the same representations used for gesture production are also activated during imagery of motor acts. Our findings also suggest that certain aspects of motor imagery may be dissociable from general object imagery. PMID:9270580

  9. Diagnostic Distortions: A Case Report of Progressive Apraxia of Speech.

    Science.gov (United States)

    Brodtmann, Amy; Pemberton, Hugh; Darby, David; Vogel, Adam P

    2016-04-19

    Apraxia of speech (AOS) can be the presenting symptom of neurodegenerative disease. The position of primary progressive AOS in the nosology of the dementias is still controversial. Despite seeing many specialists, patients are often misdiagnosed, in part due to a lack of quantitative measures of speech dysfunction. We present a single case report of a patient presenting with AOS, including acoustic analysis, language assessment, and brain imaging. A 52-year-old woman presenting with AOS had remained undiagnosed for 6 years despite seeing 8 specialists. Results of her MRI scans, genetic testing, and computerized speech analysis are provided. AOS is an underdiagnosed clinical syndrome causing great distress to patients and families. Using acoustic analysis of speech may lead to improved diagnostic accuracy. AOS is a complex entity with an expanding phenotype, and quantitative clinical measures will be critical for detection and to assess progression. PMID:27104903

  10. Influences of Electromagnetic Articulography Sensors on Speech Produced by Healthy Adults and Individuals with Aphasia and Apraxia

    Science.gov (United States)

    Katz, William F.; Bharadwaj, Sneha V.; Stettler, Monica P.

    2006-01-01

    Purpose: This study examined whether the intraoral transducers used in electromagnetic articulography (EMA) interfere with speech and whether there is an added risk of interference when EMA systems are used to study individuals with aphasia and apraxia. Method: Ten adult talkers (5 individuals with aphasia/apraxia, 5 controls) produced 12 American…

  11. Balance impairment does not necessarily coexist with gait apraxia in mild and moderate Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    Fernando Vieira Pereira

    2016-06-01

    Full Text Available ABSTRACT Currently, there are no studies reporting how much balance impairment coexists with gait apraxia in mild and moderate Alzheimer’s disease (AD. Objectives To assess correlations among gait apraxia, balance impairment and cognitive performance in mild (AD1, n = 30 and moderate (AD2, n = 30 AD. Method The following evaluations were undertaken: gait apraxia (Assessment Walking Skills; balance performance (Berg Balance Scale; Clinical Dementia Rating and Mini-mental State Examination (MMSE. Results While disregarding AD subgroups, Berg Balance Scale and the MMSE correlated significantly with Assessment Walking Skills and 23% of all subjects scored below its cut-off. After stratification, Berg Balance Scale correlated significantly with Assessment Walking Skills in both AD subgroups, and with the MMSE only in AD1. Conclusions Balance impairment does not necessarily coexist with gait apraxia. Gait apraxia is more prevalent in moderate AD when compared with mild AD.

  12. Ideomotor Apraxia in Left Thalamic Hemorrhage: Discrepancy between Clinical Course and SPECT

    Directory of Open Access Journals (Sweden)

    Armin Schnider

    1991-01-01

    Full Text Available We present a patient who developed severe ideomotor apraxia (IA and subcortical aphasia after a hemorrhage involving the posterior part of the left thalamus and the posterior limb of the internal capsule. The cerebral blood flow (CBF of the left hemisphere as measured by 99Tc-HM-PAO SPECT was initially diminished as compared to the right hemisphere. The apraxia and aphasia eventually resolved. Despite this clinical improvement CBF of the left hemisphere worsened. Our findings do not support the view that apraxia and aphasia following lesion of deep subcortical structures is due to cortical derangement induced by disruption of unspecific activating thalamo-cortical pathways. The results call for caution in the functional interpretation of perfusion deficits detected by SPECT.

  13. MRI with fibre tracking in Cogan congenital oculomotor apraxia

    Energy Technology Data Exchange (ETDEWEB)

    Merlini, Laura [University Hospital of Geneva, Pediatric Radiology, Geneva (Switzerland); Vargas, Maria I. [University Hospital of Geneva, Neuroradiology, Geneva (Switzerland); Haller, Raoul de [University Hospital of Geneva, Pediatric Ophthalmology, Geneva (Switzerland); Rilliet, Benedict [University Hospital of Geneva, Pediatric Neurosurgery, Geneva (Switzerland); Fluss, Joel [University Hospital of Geneva, Pediatric Neurology, Geneva (Switzerland)

    2010-10-15

    Congenital ocular motor apraxia (COMA) occasionally shares with Joubert syndrome (JS) and related disorders (JSRDs) a peculiar malformation, the 'molar tooth sign' (MTS). In JSRDs, the absence of superior cerebellar peduncles (SCP) decussation is reported. To investigate whether COMA demonstrates similar abnormal axonal pathways. Eight healthy age-matched controls, three children with clinical COMA and one child with clinical JSRD underwent examination with a 1.5-T MRI scanner. Diffusion-weighted imaging (DWI), colour-coded fractional anisotropy maps and three-dimensional diffusion tensor imaging (DTI) tractography of the cerebellorubral network were analyzed. On DTI cartography, the 'red dot' originally supposed to represent the SCP decussation in the midbrain was present in controls as well in those with COMA but absent in the single case with JS. In none of the subjects including controls was 3-D FT able to depict the SCP decussation. When seeded, the red dot resulted in the ventral tegmental decussation (VTD). It was normal in controls and in patients with COMA but was absent in our single patient with JSRD. MTS was identified in alla patients with COMA and in the patient with JSRD. MTS can be present in both COMA and JSRD but the underlying anatomy depicted by fibre tracking is distinct. The main difference is the integrity of the VTD in COMA. (orig.)

  14. A Diagnostic Test for Apraxia in Stroke Patients : Internal consistency and diagnostic value

    NARCIS (Netherlands)

    van Heugten, C.M.; Dekker, J.; Deelman, B.G.; Stehmann-Saris, J.C; Kinebanian, A

    1999-01-01

    The internal consistency and the diagnostic value of a test for apraxia in patients having had a stroke are presented. Results indicate that the items of the test form a strong and consistent scale: Cronbach's alpha as well as the results of a Mokken scale analysis present good reliability and good

  15. A diagnostic test for apraxia in stroke patients: internal consistency and diagnostic value.

    NARCIS (Netherlands)

    Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Stehmann-Saris, F.C.; Kinebanian, A.

    1999-01-01

    The internal consistency and the diagnostic value of a test for apraxia in patients having had a stroke are presented. Results indicate that the items of the test form a strong and consistent scale: Cronbach's alpha as well as the results of a Mokken scale analysis present good reliability and good

  16. Computational neural modeling of speech motor control in childhood apraxia of speech (CAS)

    NARCIS (Netherlands)

    Terband, H.R.; Maassen, B.A.M.; Guenther, F.H.; Brumberg, J.

    2009-01-01

    PURPOSE: Childhood apraxia of speech (CAS) has been associated with a wide variety of diagnostic descriptions and has been shown to involve different symptoms during successive stages of development. In the present study, the authors attempted to associate the symptoms of CAS in a particular develop

  17. Speech motor development in childhood apraxia of speech: generating testable hypotheses by neurocomputational modeling.

    NARCIS (Netherlands)

    Terband, H.R.; Maassen, B.A.M.

    2010-01-01

    Childhood apraxia of speech (CAS) is a highly controversial clinical entity, with respect to both clinical signs and underlying neuromotor deficit. In the current paper, we advocate a modeling approach in which a computational neural model of speech acquisition and production is utilized in order to

  18. Speech Motor Development in Childhood Apraxia of Speech : Generating Testable Hypotheses by Neurocomputational Modeling

    NARCIS (Netherlands)

    Terband, H.; Maassen, B.

    2010-01-01

    Childhood apraxia of speech (CAS) is a highly controversial clinical entity, with respect to both clinical signs and underlying neuromotor deficit. In the current paper, we advocate a modeling approach in which a computational neural model of speech acquisition and production is utilized in order to

  19. Developmental apraxia of speech : deficits in phonetic planning and motor programming

    NARCIS (Netherlands)

    Nijland, Lian

    2003-01-01

    The speech of children with developmental apraxia of speech (DAS) is highly unintelligible due to many nonsystematic sound substitutions and distortions. There is ongoing debate about the underlying deficit of the disorder. The ultimate goal of this thesis was to answer this question within the spee

  20. Transfer of training effects in stroke patients with apraxia: an exploratory study.

    NARCIS (Netherlands)

    Geusgens, C.; Heugten, C. van; Donkervoort, M.; Ende, E. van den; Jolles, J.; Heuvel, W. van den

    2006-01-01

    The goal of the present study was to examine the transfer of the effects of cognitive strategy training for stroke patients with apraxia from trained to non-trained tasks. In strategy training, the occurrence of transfer is expected as the training programme is aimed, not at relearning specific task

  1. The treatment of apraxia of speech : Speech and music therapy, an innovative joint effort

    NARCIS (Netherlands)

    Hurkmans, Josephus Johannes Stephanus

    2016-01-01

    Apraxia of Speech (AoS) is a neurogenic speech disorder. A wide variety of behavioural methods have been developed to treat AoS. Various therapy programmes use musical elements to improve speech production. A unique therapy programme combining elements of speech therapy and music therapy is called S

  2. The Importance of Production Frequency in Therapy for Childhood Apraxia of Speech

    Science.gov (United States)

    Edeal, Denice Michelle; Gildersleeve-Neumann, Christina Elke

    2011-01-01

    Purpose: This study explores the importance of production frequency during speech therapy to determine whether more practice of speech targets leads to increased performance within a treatment session, as well as to motor learning, in the form of generalization to untrained words. Method: Two children with childhood apraxia of speech were treated…

  3. Error Variability and the Differentiation between Apraxia of Speech and Aphasia with Phonemic Paraphasia

    Science.gov (United States)

    Haley, Katarina L.; Jacks, Adam; Cunningham, Kevin T.

    2013-01-01

    Purpose: This study was conducted to evaluate the clinical utility of error variability for differentiating between apraxia of speech (AOS) and aphasia with phonemic paraphasia. Method: Participants were 32 individuals with aphasia after left cerebral injury. Diagnostic groups were formed on the basis of operationalized measures of recognized…

  4. The Parent Experience: When a Child Is Diagnosed with Childhood Apraxia of Speech

    Science.gov (United States)

    Miron, Colleen

    2012-01-01

    The purpose of this study was to explore the parent adaptation process for parents of children with childhood apraxia of speech (CAS). Professionals widely recognize the importance of parental involvement in achieving successful outcomes for children with disabilities, however, few studies have explored parents' views and perspectives, in…

  5. Tool-Use and the Left Hemisphere: What Is Lost in Ideomotor Apraxia?

    Science.gov (United States)

    Sunderland, Alan; Wilkins, Leigh; Dineen, Rob; Dawson, Sophie E.

    2013-01-01

    Impaired tool related action in ideomotor apraxia is normally ascribed to loss of sensorimotor memories for habitual actions (engrams), but this account has not been tested against a hypothesis of a general deficit in representation of hand-object spatial relationships. Rapid reaching for familiar tools was compared with reaching for abstract…

  6. An Experimental Investigation of the Automatic/Voluntary Dissociation in Limb Apraxia

    Science.gov (United States)

    Trojano, Luigi; Labruna, Ludovica; Grossi, Dario

    2007-01-01

    The ability of apraxic patients to perform gestures in everyday life is a controversial issue. In this paper, we aimed to evaluate the automatic/voluntary dissociation (AVD) in four patients affected by clinically relevant limb apraxia. For this purpose, we sampled different kinds of gestures belonging to patients' motor repertoire and then…

  7. Measuring disabilities in stroke patients with apraxia: a validation study of an observational method.

    NARCIS (Netherlands)

    Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Dijk, A.J. van; Stehmann-Saris, F.C.; Kinebanian, A.

    2000-01-01

    The objective of the present study was to determine the clinical and construct validity of the assessment of disabilities in stroke patients with apraxia. Disabilities were assessed by means of observation of activities of daily living (ADL), such as washing the face and upper body and putting on a

  8. The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder

    Science.gov (United States)

    Shriberg, Lawrence D.; Paul, Rhea; Black, Lois M.; van Santen, Jan P.

    2011-01-01

    In a sample of 46 children aged 4-7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants' speech, prosody, and voice were compared with data from 40 typically-developing children, 13…

  9. Measuring Articulatory Error Consistency in Children with Developmental Apraxia of Speech

    Science.gov (United States)

    Betz, Stacy K.; Stoel-Gammon, Carol

    2005-01-01

    Error inconsistency is often cited as a characteristic of children with speech disorders, particularly developmental apraxia of speech (DAS); however, few researchers operationally define error inconsistency and the definitions that do exist are not standardized across studies. This study proposes three formulas for measuring various aspects of…

  10. An Update on the Conceptual-Production Systems Model of Apraxia: Evidence from Stroke

    Science.gov (United States)

    Stamenova, Vessela; Black, Sandra E.; Roy, Eric A.

    2012-01-01

    Limb apraxia is a neurological disorder characterized by an inability to pantomime and/or imitate gestures. It is more commonly observed after left hemisphere damage (LHD), but has also been reported after right hemisphere damage (RHD). The Conceptual-Production Systems model (Roy, 1996) suggests that three systems are involved in the control of…

  11. Measuring disabilities in stroke patients with apraxia : A validation study of an observational method

    NARCIS (Netherlands)

    van Heugten, CM; Dekker, J; Deelman, BG; van Dijk, AJ; Stehmann-Saris, FC; Kinebanian, A

    2000-01-01

    The objective of the present study was to determine the clinical and construct validity of the assessment of disabilities in stroke patients with apraxia. Disabilities were assessed by means of observation of activities of daily living (ADL), such as washing the face and upper body and putting on a

  12. Apraxia of Speech: Perceptual Analysis of Trisyllabic Word Productions across Repeated Sampling Occasions

    Science.gov (United States)

    Mauszycki, Shannon C.; Wambaugh, Julie L.; Cameron, Rosalea M.

    2012-01-01

    Purpose: Early apraxia of speech (AOS) research has characterized errors as being variable, resulting in a number of different error types being produced on repeated productions of the same stimuli. Conversely, recent research has uncovered greater consistency in errors, but there are limited data examining sound errors over time (more than one…

  13. Feedforward and Feedback Control in Apraxia of Speech: Effects of Noise Masking on Vowel Production

    Science.gov (United States)

    Maas, Edwin; Mailend, Marja-Liisa; Guenther, Frank H.

    2015-01-01

    Purpose: This study was designed to test two hypotheses about apraxia of speech (AOS) derived from the Directions Into Velocities of Articulators (DIVA) model (Guenther et al., 2006): the feedforward system deficit hypothesis and the feedback system deficit hypothesis. Method: The authors used noise masking to minimize auditory feedback during…

  14. Random versus Blocked Practice in Treatment for Childhood Apraxia of Speech

    Science.gov (United States)

    Maas, Edwin; Farinella, Kimberly A.

    2012-01-01

    Purpose: To compare the relative effects of random vs. blocked practice schedules in treatment for childhood apraxia of speech (CAS). Although there have been repeated suggestions in the literature to use random practice in CAS treatment, no systematic studies exist that have directly compared random with blocked practice in this population.…

  15. The Diagnosis and Understanding of Apraxia of Speech: Why Including Neurodegenerative Etiologies May Be Important

    Science.gov (United States)

    Duffy, Joseph R.; Josephs, Keith A.

    2012-01-01

    Purpose: To discuss apraxia of speech (AOS) as it occurs in neurodegenerative disease (progressive AOS [PAOS]) and how its careful study may contribute to general concepts of AOS and help refine its diagnostic criteria. Method: The article summarizes our current understanding of the clinical features and neuroanatomical and pathologic correlates…

  16. Kinematic Investigation of Lingual Movement in Words of Increasing Length in Acquired Apraxia of Speech

    Science.gov (United States)

    Bartle-Meyer, Carly J.; Goozee, Justine V.; Murdoch, Bruce E.

    2009-01-01

    The current study aimed to use electromagnetic articulography (EMA) to investigate the effect of increasing word length on lingual kinematics in acquired apraxia of speech (AOS). Tongue-tip and tongue-back movement was recorded for five speakers with AOS and a concomitant aphasia (mean age = 53.6 years; SD = 12.60) during target consonant…

  17. Computational Neural Modeling of Speech Motor Control in Childhood Apraxia of Speech (CAS)

    Science.gov (United States)

    Terband, Hayo; Maassen, Ben; Guenther, Frank H.; Brumberg, Jonathan

    2009-01-01

    Purpose: Childhood apraxia of speech (CAS) has been associated with a wide variety of diagnostic descriptions and has been shown to involve different symptoms during successive stages of development. In the present study, the authors attempted to associate the symptoms of CAS in a particular developmental stage with particular…

  18. Assessing the Treatment Effects in Apraxia of Speech: Introduction and Evaluation of the Modified Diadochokinesis Test

    Science.gov (United States)

    Hurkmans, Joost; Jonkers, Roel; Boonstra, Anne M.; Stewart, Roy E.; Reinders-Messelink, Heleen A.

    2012-01-01

    Background: The number of reliable and valid instruments to measure the effects of therapy in apraxia of speech (AoS) is limited. Aims: To evaluate the newly developed Modified Diadochokinesis Test (MDT), which is a task to assess the effects of rate and rhythm therapies for AoS in a multiple baseline across behaviours design. Methods: The…

  19. Visuomotor Tracking Abilities of Speakers with Apraxia of Speech or Conduction Aphasia

    Science.gov (United States)

    Robin, Donald A.; Jacks, Adam; Hageman, Carlin; Clark, Heather M.; Woodworth, George

    2008-01-01

    This investigation examined the visuomotor tracking abilities of persons with apraxia of speech (AOS) or conduction aphasia (CA). In addition, tracking performance was correlated with perceptual judgments of speech accuracy. Five individuals with AOS and four with CA served as participants, as well as an equal number of healthy controls matched by…

  20. Progressive Apraxia of Speech as a Sign of Motor Neuron Disease

    Science.gov (United States)

    Duffy, Joseph R.; Peach, Richard K.; Strand, Edythe A.

    2007-01-01

    Purpose: To document and describe in detail the occurrence of apraxia of speech (AOS) in a group of individuals with a diagnosis of motor neuron disease (MND). Method: Seven individuals with MND and AOS were identified from among 80 patients with a variety of neurodegenerative diseases and AOS (J. R. Duffy, 2006). The history, presenting…

  1. Phonological Awareness and Early Reading Development in Childhood Apraxia of Speech (CAS)

    Science.gov (United States)

    McNeill, B. C.; Gillon, G. T.; Dodd, B.

    2009-01-01

    Background: Childhood apraxia of speech (CAS) is associated with phonological awareness, reading, and spelling deficits. Comparing literacy skills in CAS with other developmental speech disorders is critical for understanding the complexity of the disorder. Aims: This study compared the phonological awareness and reading development of children…

  2. The Production of Emotional Prosody in Varying Degrees of Severity of Apraxia of Speech.

    Science.gov (United States)

    Van Putten, Steffany M.; Walker, Judy P.

    2003-01-01

    A study examined the abilities of three adults with varying degrees of apraxia of speech (AOS) to produce emotional prosody. Acoustic analyses of the subjects' productions revealed that unlike the control subject, the subjects with AOS did not produce differences in duration and amplitude cues to convey different emotions. (Contains references.)…

  3. Speech Motor Programming in Apraxia of Speech: Evidence from a Delayed Picture-Word Interference Task

    Science.gov (United States)

    Mailend, Marja-Liisa; Maas, Edwin

    2013-01-01

    Purpose: Apraxia of speech (AOS) is considered a speech motor programming impairment, but the specific nature of the impairment remains a matter of debate. This study investigated 2 hypotheses about the underlying impairment in AOS framed within the Directions Into Velocities of Articulators (DIVA; Guenther, Ghosh, & Tourville, 2006) model: The…

  4. Prevalence and Phenotype of Childhood Apraxia of Speech in Youth with Galactosemia

    Science.gov (United States)

    Shriberg, Lawrence D.; Potter, Nancy L.; Strand, Edythe A.

    2011-01-01

    Purpose: In this article, the authors address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for Childhood Apraxia of Speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia…

  5. Effectiveness of an Integrated Phonological Awareness Approach for Children with Childhood Apraxia of Speech (CAS)

    Science.gov (United States)

    McNeill, Brigid C.; Gillon, Gail T.; Dodd, Barbara

    2009-01-01

    This study investigated the effectiveness of an integrated phonological awareness approach for children with childhood apraxia of speech (CAS). Change in speech, phonological awareness, letter knowledge, word decoding, and spelling skills were examined. A controlled multiple single-subject design was employed. Twelve children aged 4-7 years with…

  6. Intervention for Childhood Apraxia of Speech: A Single-Case Study

    Science.gov (United States)

    Martikainen, Anna-Leena; Korpilahti, Pirjo

    2011-01-01

    The underlying nature and diagnosis of childhood apraxia of speech (CAS) still requires clarification. However, the label "CAS" or "suspected CAS" continues to be assigned to a group of children with speech problems, and speech and language therapists need to be aware of effective treatment for these children. The aim of this study was to assess…

  7. Treatment for Acquired Apraxia of Speech: Examination of Treatment Intensity and Practice Schedule

    Science.gov (United States)

    Wambaugh, Julie L.; Nessler, Christina; Cameron, Rosalea; Mauszycki, Shannon C.

    2013-01-01

    Purpose: The authors designed this investigation to extend the development of a treatment for acquired apraxia of speech (AOS)--sound production treatment (SPT)--by examining the effects of 2 treatment intensities and 2 schedules of practice. Method: The authors used a multiple baseline design across participants and behaviors with 4 speakers with…

  8. Toward a Quantitative Basis for Assessment and Diagnosis of Apraxia of Speech

    Science.gov (United States)

    Haley, Katarina L.; Jacks, Adam; de Riesthal, Michael; Abou-Khalil, Rima; Roth, Heidi L.

    2012-01-01

    Purpose: We explored the reliability and validity of 2 quantitative approaches to document presence and severity of speech properties associated with apraxia of speech (AOS). Method: A motor speech evaluation was administered to 39 individuals with aphasia. Audio-recordings of the evaluation were presented to 3 experienced clinicians to determine…

  9. Assessment of disabilities in stroke patients with apraxia: internal consistency and inter-observer reliability.

    NARCIS (Netherlands)

    Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Stehmann-Saris, J.C.; Kinebanian, A.

    1999-01-01

    In this paper the internal consistency and inter-observer reliability of the assessment of disabilities in stroke patients with apraxia is presented. Disabilities were assessed by means of observation of activities of daily living (ADL). The study was conducted at occupational therapy departments in

  10. Assessment of disabilities in stroke patients with apraxia : Internal consistency and inter-observer reliability

    NARCIS (Netherlands)

    van Heugten, CM; Dekker, J; Deelman, BG; Stehmann-Saris, JC; Kinebanian, A

    1999-01-01

    In this paper the internal consistency and inter-observer reliability of the assessment of disabilities in stroke patients with apraxia is presented. Disabilities were assessed by means of observation of activities of daily living (ADL). The study was conducted at occupational therapy departments in

  11. Efficacy of strategy training in left hemisphere stroke patients with apraxia: a randomized clinical trial.

    NARCIS (Netherlands)

    Dekker, J.; Donkervoort, M.; Stehman, F.C.; Deelman, B.G.

    2001-01-01

    The objective of the present study was to determine in a controlled study the efficacy of strategy training in left hemisphere stroke patients with apraxia. 113 Left hemisphere assigned to two treatment groups: i) strategy training integrated into usual occupational therapy and ii) usual occupationa

  12. Where language meets meaningful action: a combined behavior and lesion analysis of aphasia and apraxia.

    Science.gov (United States)

    Weiss, Peter H; Ubben, Simon D; Kaesberg, Stephanie; Kalbe, Elke; Kessler, Josef; Liebig, Thomas; Fink, Gereon R

    2016-01-01

    It is debated how language and praxis are co-represented in the left hemisphere (LH). As voxel-based lesion-symptom mapping in LH stroke patients with aphasia and/or apraxia may contribute to this debate, we here investigated the relationship between language and praxis deficits at the behavioral and lesion levels in 50 sub-acute stroke patients. We hypothesized that language and (meaningful) action are linked via semantic processing in Broca's region. Behaviorally, half of the patients suffered from co-morbid aphasia and apraxia. While 24% (n = 12) of all patients exhibited aphasia without apraxia, apraxia without aphasia was rare (n = 2, 4%). Left inferior frontal, insular, inferior parietal, and superior temporal lesions were specifically associated with deficits in naming, reading, writing, or auditory comprehension. In contrast, lesions affecting the left inferior frontal gyrus, premotor cortex, and the central region as well as the inferior parietal lobe were associated with apraxic deficits (i.e., pantomime, imitation of meaningful and meaningless gestures). Thus, contrary to the predictions of the embodied cognition theory, lesions to sensorimotor and premotor areas were associated with the severity of praxis but not language deficits. Lesions of Brodmann area (BA) 44 led to combined apraxic and aphasic deficits. Data suggest that BA 44 acts as an interface between language and (meaningful) action thereby supporting parcellation schemes (based on connectivity and receptor mapping) which revealed a BA 44 sub-area involved in semantic processing.

  13. Bridging the Gap Between Speech and Language: Using Multimodal Treatment in a Child With Apraxia.

    Science.gov (United States)

    Tierney, Cheryl D; Pitterle, Kathleen; Kurtz, Marie; Nakhla, Mark; Todorow, Carlyn

    2016-09-01

    Childhood apraxia of speech is a neurologic speech sound disorder in which children have difficulty constructing words and sounds due to poor motor planning and coordination of the articulators required for speech sound production. We report the case of a 3-year-old boy strongly suspected to have childhood apraxia of speech at 18 months of age who used multimodal communication to facilitate language development throughout his work with a speech language pathologist. In 18 months of an intensive structured program, he exhibited atypical rapid improvement, progressing from having no intelligible speech to achieving age-appropriate articulation. We suspect that early introduction of sign language by family proved to be a highly effective form of language development, that when coupled with intensive oro-motor and speech sound therapy, resulted in rapid resolution of symptoms.

  14. Bridging the Gap Between Speech and Language: Using Multimodal Treatment in a Child With Apraxia.

    Science.gov (United States)

    Tierney, Cheryl D; Pitterle, Kathleen; Kurtz, Marie; Nakhla, Mark; Todorow, Carlyn

    2016-09-01

    Childhood apraxia of speech is a neurologic speech sound disorder in which children have difficulty constructing words and sounds due to poor motor planning and coordination of the articulators required for speech sound production. We report the case of a 3-year-old boy strongly suspected to have childhood apraxia of speech at 18 months of age who used multimodal communication to facilitate language development throughout his work with a speech language pathologist. In 18 months of an intensive structured program, he exhibited atypical rapid improvement, progressing from having no intelligible speech to achieving age-appropriate articulation. We suspect that early introduction of sign language by family proved to be a highly effective form of language development, that when coupled with intensive oro-motor and speech sound therapy, resulted in rapid resolution of symptoms. PMID:27492818

  15. Non-verbal communication in severe aphasia: influence of aphasia, apraxia, or semantic processing?

    Science.gov (United States)

    Hogrefe, Katharina; Ziegler, Wolfram; Weidinger, Nicole; Goldenberg, Georg

    2012-09-01

    Patients suffering from severe aphasia have to rely on non-verbal means of communication to convey a message. However, to date it is not clear which patients are able to do so. Clinical experience indicates that some patients use non-verbal communication strategies like gesturing very efficiently whereas others fail to transmit semantic content by non-verbal means. Concerns have been expressed that limb apraxia would affect the production of communicative gestures. Research investigating if and how apraxia influences the production of communicative gestures, led to contradictory outcomes. The purpose of this study was to investigate the impact of limb apraxia on spontaneous gesturing. Further, linguistic and non-verbal semantic processing abilities were explored as potential factors that might influence non-verbal expression in aphasic patients. Twenty-four aphasic patients with highly limited verbal output were asked to retell short video-clips. The narrations were videotaped. Gestural communication was analyzed in two ways. In the first part of the study, we used a form-based approach. Physiological and kinetic aspects of hand movements were transcribed with a notation system for sign languages. We determined the formal diversity of the hand gestures as an indicator of potential richness of the transmitted information. In the second part of the study, comprehensibility of the patients' gestural communication was evaluated by naive raters. The raters were familiarized with the model video-clips and shown the recordings of the patients' retelling without sound. They were asked to indicate, for each narration, which story was being told and which aspects of the stories they recognized. The results indicate that non-verbal faculties are the most important prerequisites for the production of hand gestures. Whereas results on standardized aphasia testing did not correlate with any gestural indices, non-verbal semantic processing abilities predicted the formal diversity

  16. The treatment of apraxia of speech: Speech and music therapy, an innovative joint effort

    OpenAIRE

    Hurkmans, Josephus Johannes Stephanus

    2016-01-01

    Apraxia of Speech (AoS) is a neurogenic speech disorder. A wide variety of behavioural methods have been developed to treat AoS. Various therapy programmes use musical elements to improve speech production. A unique therapy programme combining elements of speech therapy and music therapy is called Speech-Music Therapy for Aphasia (SMTA). In clinical practice, patients with AoS have experienced positive outcomes of SMTA; however, there was no evidence of this treatment’s effectiveness. This th...

  17. Error reduction therapy in reducing struggle and grope behaviours in apraxia of speech

    OpenAIRE

    Whiteside, S. P.; Inglis, A. L.; Dyson, L; Roper, A. H.; Harbottle, A; J. Ryder; Cowell, P.E.; Varley, R. A.

    2012-01-01

    We report an intervention study focused on the speech production difficulties present in acquired apraxia of speech (AOS). The intervention was a self-administered computer therapy that targeted whole word production and incorporated error reduction strategies. The effectiveness of the therapy was contrasted to that of a visuospatial sham computer program, and performance across treated words, and two sets of matched words, was assessed. Two groups of participants completed the study which em...

  18. Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

    OpenAIRE

    Worthey, Elizabeth A.; Raca, Gordana; Laffin, Jennifer J.; Wilk, Brandon M; Harris, Jeremy M; Jakielski, Kathy J; Dimmock, David P.; Strand, Edythe A.; Shriberg, Lawrence D.

    2013-01-01

    Background Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS is the disorder segregating with a mutation in FOXP2 in a widely studied, multigenerational London family. We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CA...

  19. A 58-year-old female with blurred vision and apraxia

    OpenAIRE

    SHI Zhi-hong; Cai, Li; Liu, Shuai; Wang, Ying(School of Physics, Shandong University, Jinan, 250100, PR China); Shu-ling LIU; Ji, Yong

    2014-01-01

    A 58-year-old right handed woman, with 12 years of formal education, had a five-year history of slowly progressive blurred vision and apraxia. Five years before the examination she gradually became blurred vision and had difficulties identifying static objects within the visual field. Then she went to an ophthalmologist and received cataract surgery. However, the symptoms were not improved after surgery. Two years later, she had difficulty doing household chores and was unable to dress hersel...

  20. Treatments and technologies in the rehabilitation of apraxia and action disorganisation syndrome: A review

    Science.gov (United States)

    Worthington, Andrew

    2016-01-01

    BACKGROUND: Apraxia and Action Disorganisation Syndrome are characterised by an inability to use tools and carry out ordered sequences of movements in the absence of motor or sensory impairment. To date treatment for these complex but debilitating conditions has received little attention. OBJECTIVES: To provide an overview of apraxia and action disorganisation syndrome and its treatment, providing a state of the art summary for practitioners including likely future therapeutic directions. METHOD: Review of apraxia literature and treatment studies collated from internet searches involving MEDLINE, PubMed, PyscINFO and Google Scholar as well as the author’s own catalogue. RESULTS: Evidence for current restitution and compensatory approaches is critically reviewed, with limited evidence to date in support of either method. Strategy training is the most promising intervention type with no support for sensory and exploratory interventions, practice effects only for direct task-specific training, and modest support for gestural training. CONCLUSIONS: Larger controlled studies are needed but evidence is sufficient to indicate certain approaches over others. Advances in assistive technology have not translated into mainstream therapy but future interventions are likely to require a model-based approach which embraces current technologies in order to provide a more accessible, effective and cost-efficient approach to rehabilitation. PMID:27314872

  1. 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.

  2. 失用症的评定与康复(1)%Evaluation and Rehabilitation of Apraxia(1)

    Institute of Scientific and Technical Information of China (English)

    何静杰

    2012-01-01

    Apraxia is one of the common clinical symptoms and easy to be overlooked in senior brain dysfunction. Apraxia may affect patients' activities of daily living and returning to society. However, the clinical medical staff and relevant rehabilitation personnel are lack of knowledge on apraxia and did not pay enough attention to it at present. Patients will gain much benefits over the recovery if apraxia can be found and evaluated in time. This article introduced the concept, classification, clinical feature, evaluation and rehabilitation treatment of apraxia.%失用症是高级脑功能障碍中常见的且容易被忽略的临床症状之一.失用症的存在将影响患者日常生活活动能力及回归社会能力,然而,目前的现状是临床医护人员及有关康复人员缺乏对失用症的认知及足够的重视.若能及时发现、评估失用症并能给予恰当的康复治疗,对患者的整体康复将会事半功倍.本文重点介绍失用症的概念、分类、临床表现、评估方法及康复治疗等.

  3. A diagnostic marker for childhood apraxia of speech: the coefficient of variation ratio.

    Science.gov (United States)

    Shriberg, Lawrence D; Green, Jordan R; Campbell, Thomas F; McSweeny, Jane L; Scheer, Alison R

    2003-01-01

    Terms such as isochrony, syllable segregation, scanning speech and staccato-like rhythmic quality have been used to characterize the temporal regularity that may be a core feature of apraxia of speech. The present report describes a procedure to quantify temporal regularity in children with suspected apraxia of speech (sAOS). Conversational speech samples from 15 such children, together with samples from 30 3-6-year-old children with normal speech acquisition and 30 3-6-year-old children with moderate to severe speech delay of unknown origin, were selected from an audio archive. Signal processing routines were developed to identify and measure the duration of speech and pause events in 24 utterances from the speech samples of each of the 75 speakers. A value termed the coefficient of variation expressed the normalized variability in the durations of each participant's speech events and pause events within each utterance. A metric termed the coefficient of variation ratio, derived by dividing the coefficient of variation for pause events by the coefficient of variation for speech events, expressed a speaker's relative temporal variation in the two domains. The 15 children with sAOS had higher coefficient of variation ratios than the 30 children in each of the two comparison groups, indicating that the children with sAOS had proportionally more variation in the duration of pause events and/or less variation in the duration of speech events. Findings are interpreted as supporting the view that a constraint in speech timing is a core feature of the praxis disorder that defines a developmental form of apraxia of speech.

  4. Impaired Communication Between the Dorsal and Ventral Stream: Indications from Apraxia.

    Science.gov (United States)

    Evans, Carys; Edwards, Martin G; Taylor, Lawrence J; Ietswaart, Magdalena

    2016-01-01

    Patients with apraxia perform poorly when demonstrating how an object is used, particularly when pantomiming the action. However, these patients are able to accurately identify, and to pick up and move objects, demonstrating intact ventral and dorsal stream visuomotor processing. Appropriate object manipulation for skilled use is thought to rely on integration of known and visible object properties associated with "ventro-dorsal" stream neural processes. In apraxia, it has been suggested that stored object knowledge from the ventral stream may be less readily available to incorporate into the action plan, leading to an over-reliance on the objects' visual affordances in object-directed motor behavior. The current study examined grasping performance in left hemisphere stroke patients with (N = 3) and without (N = 9) apraxia, and in age-matched healthy control participants (N = 14), where participants repeatedly grasped novel cylindrical objects of varying weight distribution. Across two conditions, object weight distribution was indicated by either a memory-associated cue (object color) or visual-spatial cue (visible dot over the weighted end). Participants were required to incorporate object-weight associations to effectively grasp and balance each object. Control groups appropriately adjusted their grasp according to each object's weight distribution across each condition, whereas throughout the task two of the three apraxic patients performed poorly on both the memory-associated and visual-spatial cue conditions. A third apraxic patient seemed to compensate for these difficulties but still performed differently to control groups. Patients with apraxia performed normally on the neutral control condition when grasping the evenly weighted version. The pattern of behavior in apraxic patients suggests impaired integration of visible and known object properties attributed to the ventro-dorsal stream: in learning to grasp the weighted object accurately, apraxic patients

  5. Impaired communication between the dorsal and ventral stream: indications from apraxia

    Directory of Open Access Journals (Sweden)

    Carys eEvans

    2016-02-01

    Full Text Available Patients with apraxia perform poorly when demonstrating how an object is used, particularly when pantomiming the action. However, these patients are able to accurately identify, and to pick up and move objects, demonstrating intact ventral and dorsal stream visuomotor processing. Appropriate object manipulation for skilled use is thought to rely on integration of known and visible object properties associated with ‘ventro-dorsal’ stream neural processes. In apraxia, it has been suggested that stored object knowledge from the ventral stream may be less readily available to incorporate into the action plan, leading to an over-reliance on the objects’ visual affordances in object-directed motor behaviour. The current study examined grasping performance in left hemisphere stroke patients with (N = 3 and without (N = 9 apraxia, and in age-matched healthy control participants (N = 14, where participants repeatedly grasped novel cylindrical objects of varying weight distribution. Across two conditions, object weight distribution was indicated by either a memory-associated cue (object colour or visual-spatial cue (visible dot over the weighted end. Participants were required to incorporate object-weight associations to effectively grasp and balance each object. Control groups appropriately adjusted their grasp according to each object’s weight distribution across each condition, whereas throughout the task two of the three apraxic patients performed poorly on both the memory-associated and visual-spatial cue conditions. A third apraxic patient seemed to compensate for these difficulties but still performed differently to control groups. Patients with apraxia performed normally on the neutral control condition when grasping the evenly weighted version. The pattern of behaviour in apraxic patients suggests impaired integration of visible and known object properties attributed to the ventro-dorsal stream: in learning to grasp the weighted object

  6. Focal cortical hypoperfusion in corticobasal degeneration demonstrated by three-dimensional surface display with {sup 123}I-IMP: a possible cause of apraxia

    Energy Technology Data Exchange (ETDEWEB)

    Okuda, B. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Tachibana, H. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Takeda, M. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Kawabata, K. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Sugita, M. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Fukuchi, M. [Department of Nuclear Medicine, Hyogo College of Medicine, Nishinomiya (Japan)

    1995-11-01

    To clarify cortical lesions responsible for apraxia in corticobasal degeneration (CBD), we reconstructed three-dimensional surface images from single-photon emission computed tomography (SPECT) data with N-isopropyl-p[I-123]-iodoamphetamine in two patients with CBD. Both had limb-kinetic apraxia (LKA) and one also had constructional apraxia (CA). Both showed asymmetrical cortical hypoperfusion in the perirolandic area. The patient with CA had unilateral hypoperfusion in the posterior parietal area. Thus, cortical hypoperfusion in the perirolandic area corresponded to LKA, and that in the posterior parietal area to CA. (orig.). With 4 figs.

  7. Prevalence of apraxia among patients with a first left hemisphere stroke in rehabilitation centres and nursing homes

    NARCIS (Netherlands)

    Donkervoort, M; Dekker, J; van den Ende, E; Stehmann-Saris, JC; Deelman, BG

    2000-01-01

    Objective: To investigate the prevalence of apraxia in patients with a first left hemisphere stroke. Subjects. Left hemisphere stroke patients staying at an inpatient care unit of a rehabilitation centre or nursing home and receiving occupational therapy (n = 600). Measures: A short questionnaire on

  8. Speech Motor Control in Fluent and Dysfluent Speech Production of an Individual with Apraxia of Speech and Broca's Aphasia

    Science.gov (United States)

    van Lieshout, Pascal H. H. M.; Bose, Arpita; Square, Paula A.; Steele, Catriona M.

    2007-01-01

    Apraxia of speech (AOS) is typically described as a motor-speech disorder with clinically well-defined symptoms, but without a clear understanding of the underlying problems in motor control. A number of studies have compared the speech of subjects with AOS to the fluent speech of controls, but only a few have included speech movement data and if…

  9. Acquired Apraxia of Speech: The Effects of Repeated Practice and Rate/Rhythm Control Treatments on Sound Production Accuracy

    Science.gov (United States)

    Wambaugh, Julie L.; Nessler, Christina; Cameron, Rosalea; Mauszycki, Shannon C.

    2012-01-01

    Purpose: This investigation was designed to elucidate the effects of repeated practice treatment on sound production accuracy in individuals with apraxia of speech (AOS) and aphasia. A secondary purpose was to determine if the addition of rate/rhythm control to treatment provided further benefits beyond those achieved with repeated practice.…

  10. An Electropalatographic Investigation of Linguopalatal Contact in Participants with Acquired Apraxia of Speech: A Quantitative and Qualitative Analysis

    Science.gov (United States)

    Bartle-Meyer, Carly J.; Murdoch, Bruce E.; Goozee, Justine V.

    2009-01-01

    The current study aimed to provide a comprehensive analysis of linguopalatal contact patterns in participants with acquired apraxia of speech (AOS). Tongue-to-palate contacts were recorded for three participants with AOS during consonant singletons and consonant clusters using the Reading Electropalatograph (EPG3) system. Amount and pattern of…

  11. Apraxia of Speech and Phonological Errors in the Diagnosis of Nonfluent/Agrammatic and Logopenic Variants of Primary Progressive Aphasia

    Science.gov (United States)

    Croot, Karen; Ballard, Kirrie; Leyton, Cristian E.; Hodges, John R.

    2012-01-01

    Purpose: The International Consensus Criteria for the diagnosis of primary progressive aphasia (PPA; Gorno-Tempini et al., 2011) propose apraxia of speech (AOS) as 1 of 2 core features of nonfluent/agrammatic PPA and propose phonological errors or absence of motor speech disorder as features of logopenic PPA. We investigated the sensitivity and…

  12. The Relationship between Articulatory Control and Improved Phonemic Accuracy in Childhood Apraxia of Speech: A Longitudinal Case Study

    Science.gov (United States)

    Grigos, Maria I.; Kolenda, Nicole

    2010-01-01

    Jaw movement patterns were examined longitudinally in a 3-year-old male with childhood apraxia of speech (CAS) and compared with a typically developing control group. The child with CAS was followed for 8 months, until he began accurately and consistently producing the bilabial phonemes /p/, /b/, and /m/. A movement tracking system was used to…

  13. Retrospective Parent Report of Early Vocal Behaviours in Children with Suspected Childhood Apraxia of Speech (sCAS)

    Science.gov (United States)

    Highman, Chantelle; Hennessey, Neville; Sherwood, Mellanie; Leitao, Suze

    2008-01-01

    Parents of children with suspected Childhood Apraxia of Speech (sCAS, n = 20), Specific Language Impairment (SLI, n = 20), and typically developing speech and language skills (TD, n = 20) participated in this study, which aimed to quantify and compare reports of early vocal development. Via a questionnaire, parents reported on their child's early…

  14. Speech Planning Happens before Speech Execution: Online Reaction Time Methods in the Study of Apraxia of Speech

    Science.gov (United States)

    Maas, Edwin; Mailend, Marja-Liisa

    2012-01-01

    Purpose: The purpose of this article is to present an argument for the use of online reaction time (RT) methods to the study of apraxia of speech (AOS) and to review the existing small literature in this area and the contributions it has made to our fundamental understanding of speech planning (deficits) in AOS. Method: Following a brief…

  15. Auditory Masking Effects on Speech Fluency in Apraxia of Speech and Aphasia: Comparison to Altered Auditory Feedback

    Science.gov (United States)

    Jacks, Adam; Haley, Katarina L.

    2015-01-01

    Purpose: To study the effects of masked auditory feedback (MAF) on speech fluency in adults with aphasia and/or apraxia of speech (APH/AOS). We hypothesized that adults with AOS would increase speech fluency when speaking with noise. Altered auditory feedback (AAF; i.e., delayed/frequency-shifted feedback) was included as a control condition not…

  16. Effects of Feedback Frequency and Timing on Acquisition, Retention, and Transfer of Speech Skills in Acquired Apraxia of Speech

    Science.gov (United States)

    Hula, Shannon N. Austermann; Robin, Donald A.; Maas, Edwin; Ballard, Kirrie J.; Schmidt, Richard A.

    2008-01-01

    Purpose: Two studies examined speech skill learning in persons with apraxia of speech (AOS). Motor-learning research shows that delaying or reducing the frequency of feedback promotes retention and transfer of skills. By contrast, immediate or frequent feedback promotes temporary performance enhancement but interferes with retention and transfer.…

  17. An EMA Analysis of the Effect of Increasing Word Length on Consonant Production in Apraxia of Speech: A Case Study

    Science.gov (United States)

    Bartle, Carly J.; Goozee, Justine V.; Murdoch, Bruce E.

    2007-01-01

    The effect of increasing word length on the articulatory dynamics (i.e. duration, distance, maximum acceleration, maximum deceleration, and maximum velocity) of consonant production in acquired apraxia of speech was investigated using electromagnetic articulography (EMA). Tongue-tip and tongue-back movement of one apraxic patient was recorded…

  18. Prevalence of apraxia among patients with a first left hemisphere stroke in rehabilitation centres and nursing homes.

    NARCIS (Netherlands)

    Donkervoort, M.; Dekker, J.; Ende, E. van den; Stehmann-Saris, J.C.; Deelman, B.G.

    2000-01-01

    OBJECTIVE: To investigate the prevalence of apraxia in patients with a first left hemisphere stroke. SUBJECTS: Left hemisphere stroke patients staying at an inpatient care unit of a rehabilitation centre or nursing home and receiving occupational therapy (n = 600). MEASURES: A short questionnaire on

  19. Deficits in Sequential Processing Manifest in Motor and Linguistic Tasks in a Multigenerational Family with Childhood Apraxia of Speech

    Science.gov (United States)

    Peter, Beate; Button, Le; Stoel-Gammon, Carol; Chapman, Kathy; Raskind, Wendy H.

    2013-01-01

    The purpose of this study was to evaluate a global deficit in sequential processing as candidate endophenotypein a family with familial childhood apraxia of speech (CAS). Of 10 adults and 13 children in a three-generational family with speech sound disorder (SSD) consistent with CAS, 3 adults and 6 children had past or present SSD diagnoses. Two…

  20. Improvements in Limb Kinetic Apraxia by Repetition of a Newly Designed Facilitation Exercise in a Patient with Corticobasal Degeneration

    Science.gov (United States)

    Kawahira, Kazumi; Noma, Tomokazu; Iiyama, Junichi; Etoh, Seiji; Ogata, Atsuko; Shimodozono, Megumi

    2009-01-01

    Corticobasal degeneration is a progressive neurological disorder characterized by a combination of parkinsonism and cortical dysfunction such as limb kinetic apraxia, alien limb phenomenon, and dementia. To study the effect of repetitive facilitation exercise (RFE) in a patient with corticobasal degeneration, we used a newly designed facilitation…

  1. Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins.

    Science.gov (United States)

    Gonzalez-Martin, J A; Kaye, L C; Brown, M; Ellis, I; Appelton, R; Kaye, S B

    2004-06-01

    Identical female twins (age 11 years) with congenital ocular motor apraxia and generalized idiopathic epilepsy are reported. Their presenting symptoms were a long history of abnormal head and eye movements. One twin developed partial sensory seizures. The patients underwent 16-channel EEG, electro-oculographic recordings, MRI of the brain, and genetic and metabolic investigations. EEG findings were consistent with idiopathic generalized epilepsy. Electrooculographic recordings of the saccades confirmed an inability to elicit horizontal saccades without preceding head movement; saccades to the left were better than saccades to the right. MR scans for one twin showed normal findings, however, for the twin who had meningitis they revealed asymmetry between the right and left temporal lobes but no specific abnormality. DNA analysis using a series of autosomal polymorphic markers confirmed the monozygocity of the twins. White blood cell enzyme analysis excluded Sandhoff disease, Tay-Sachs disease, GM1 gangliosidosis, metacromatic leucodystrophy, Gaucher disease, Niemann-Pick disease (A and B), and Krabbe leucodystrophy. Albumin and immunoglobulin (IgA, IgG, and IgM) levels were normal. It is concluded that autosomal recessive inheritance seems the most likely explanation here, as recent studies have found insertion and missense mutations of the aprataxin gene which have been related to an early onset form of ataxia with ocular motor apraxia and hypoalbuminaemia. PMID:15174536

  2. [A case of diagnostic dyspraxia without ideomotor apraxia by callosal lesion].

    Science.gov (United States)

    Tei, H; Soma, Y; Uchiyama, S; Maruyama, S

    1993-05-01

    A case of diagnostic dyspraxia was reported. A 57-year-old right handed male had been suffering from the lack of cooperation between his right and left hands for six months. Except for decreased deep tendon reflexes in all extremities, there were no abnormal findings on neurological examination. On neuropsychological examination, he was attentive, well orientated and his spontaneous speech, comprehension, naming, repetition and reading were intact. There was peculiar dissociative behavior between his right and left hands. For instance, he put a cigarette or coin in the pocket with his right hand then his left hand took out and replaced them, and he buttoned his shirts with his right hand but then unbuttoned with his left hand. These left hand oppositional behavior to his right hand were triggered by voluntary activities of his right hand. Left unilateral agraphia was also revealed but ideomotor apraxia, compulsive manipulation of tools and grasp reflex were not demonstrated. T1-weighted MRI demonstrated irregular low signal intensity areas extending from the genu to the body of the corpus callosum. No definite lesion was detected in the medial aspect of the frontal lobe. Only small numbers of diagnostic dyspraxia have been reported and such cases without ideomotor apraxia or medial frontal lesion are even rare. MRI is very useful for detecting the lesion of the corpus callosum. PMID:8365065

  3. Speech Evaluation with Special Focus on Children Suffering from Apraxia of Speech

    Directory of Open Access Journals (Sweden)

    Manasi Dixit

    2013-07-01

    Full Text Available Speech disorders are very complicated in individuals suffering from Apraxia of Speech-AOS. In this paper ,the pathological cases of speech disabled children affected with AOS are analyzed. The speech signalsamples of childrenSpeech disorders are very complicated in individuals suffering from Apraxia of Speech-AOS. In this paper ,the pathological cases of speech disabled children affected with AOS are analyzed. The speech signalsamples of children of age between three to eight years are considered for the present study. These speechsignals are digitized and enhanced using the using the Speech Pause Index, Jitter,Skew ,Kurtosis analysisThis analysis is conducted on speech data samples which are concerned with both place of articulation andmanner of articulation. The speech disability of pathological subjects was estimated using results of aboveanalysis. of age between three to eight years are considered for the present study. These speechsignals are digitized and enhanced using the using the Speech Pause Index, Jitter,Skew ,Kurtosis analysisThis analysis is conducted on speech data samples which are concerned with both place of articulation andmanner of articulation. The speech disability of pathological subjects was estimated using results of aboveanalysis.

  4. MRI in callosal apraxia and agraphia due to a traumatic lesion in the posterior trunk of the corpus callosum

    Energy Technology Data Exchange (ETDEWEB)

    Yasumura, Shuichi; Ito, Naoki; Terunuma, Hiroshi; Matsuzaki, Takayuki; Iwabuchi, Reiko

    1987-08-01

    We discussed functional topography of the corpus callosum in a case with ideo-motor apraxia and agraphia of the left hand due to a traumatic callosal hematoma confirmed by MRI. The patient was a 35-year-old right-handed woman with head injury in a traffic accident. On admission she was semi-comatose with left oculomotor palsy and her left upper limb showed a decorticate rigidity by noxious stimuli, however, she became alert within 14 days. X-ray CT showed an abnormal high density area in the posterior part of the trunk of the corpus callosum on admission. MRI (inversion recovery technique) on the 60th hospital day showed a low intensity area extending for about 2 cm posteriorly from the center of the trunk. Sequential neuropsychological examinations for the callosal disconnection syndrome were performed. The patient showed ideo-motor apraxia and agraphia in her left hand only. Her response to verbal commands were all parapraxic except for correct use of a comb and a tooth brush. Her writings with her left hand were those of scrawls due to apraxia. These apraxia and agraphia of the left hand were transient and recovered completely within 80 days of onset. Transient impairement of bimanual coordination movement was also observed. Ataxie optique, callosal pseudoneglect, left hand tactile anomia, difficulty of somesthetic transfer or diagonistic dyspraxia was not observed. Based on the neuropsychological and the MRI findings we suggest that the lesion in the posterior part of the trunk of the corpus callosum is important for causing ideo-motor apraxia and agraphia of the left hand.

  5. A case of Parkinson's disease with apraxia of lid opening and freezing of gait

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    To the Editor:The apraxia of eyelid opening (ALO) refers to a nonparalytic movement disorder of eyelid characterized bv transient difficulty in voluntarily initiating the act of lid elevation in spite of preserved alertness and language comprehension.1 Thetypical freezing of gait (FOG) is characterized by an abrupt difficulty in starting or continuing rhythmic and repetitive movements.The frequency of ALO was 0.3%-0.7% in Parkinson's disease (PD),2,3 and it almost concurrently occurred with blepharospasm (BPS) or other dystonia.Yoon et al3 reported 3 ALO cases with BPS out of 913 PD patients.It is rare that a PD patient presents isolated ALO (not with BPS or other dystonia) as well as FOG.We reported here a case of PD with isolated ALO and FOG.

  6. Brain damage associated with apraxia of speech: evidence from case studies.

    Science.gov (United States)

    Moser, Dana; Basilakos, Alexandra; Fillmore, Paul; Fridriksson, Julius

    2016-08-01

    The site of crucial damage that causes acquired apraxia of speech (AOS) has been debated in the literature. This study presents five in-depth cases that offer insight into the role of brain areas involved in AOS. Four of the examined participants had a primary impairment of AOS either with (n = 2) or without concomitant mild aphasia (n = 2). The fifth participant presented with a lesion relatively isolated to the left anterior insula (AIns-L), damage that is rarely reported in the literature, but without AOS. Taken together, these cases challenge the role of the AIns-L and implicate the left motor regions in AOS. PMID:27264534

  7. Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children.

    Science.gov (United States)

    Chilosi, Anna Maria; Lorenzini, Irene; Fiori, Simona; Graziosi, Valentina; Rossi, Giuseppe; Pasquariello, Rosa; Cipriani, Paola; Cioni, Giovanni

    2015-11-01

    Childhood apraxia of speech (CAS) is a neurogenic Speech Sound Disorder whose etiology and neurobiological correlates are still unclear. In the present study, 32 Italian children with idiopathic CAS underwent a comprehensive speech and language, genetic and neuroradiological investigation aimed to gather information on the possible behavioral and neurobiological markers of the disorder. The results revealed four main aggregations of behavioral symptoms that indicate a multi-deficit disorder involving both motor-speech and language competence. Six children presented with chromosomal alterations. The familial aggregation rate for speech and language difficulties and the male to female ratio were both very high in the whole sample, supporting the hypothesis that genetic factors make substantial contribution to the risk of CAS. As expected in accordance with the diagnosis of idiopathic CAS, conventional MRI did not reveal macrostructural pathogenic neuroanatomical abnormalities, suggesting that CAS may be due to brain microstructural alterations. PMID:26552038

  8. Dysfunction of the Human Mirror Neuron System in Ideomotor Apraxia: Evidence from Mu Suppression.

    Science.gov (United States)

    Frenkel-Toledo, Silvi; Liebermann, Dario G; Bentin, Shlomo; Soroker, Nachum

    2016-06-01

    Stroke patients with ideomotor apraxia (IMA) have difficulties controlling voluntary motor actions, as clearly seen when asked to imitate simple gestures performed by the examiner. Despite extensive research, the neurophysiological mechanisms underlying failure to imitate gestures in IMA remain controversial. The aim of the current study was to explore the relationship between imitation failure in IMA and mirror neuron system (MNS) functioning. Mirror neurons were found to play a crucial role in movement imitation and in imitation-based motor learning. Their recruitment during movement observation and execution is signaled in EEG recordings by suppression of the lower (8-10 Hz) mu range. We examined the modulation of EEG in this range in stroke patients with left (n = 21) and right (n = 15) hemisphere damage during observation of video clips showing different manual movements. IMA severity was assessed by the DeRenzi standardized diagnostic test. Results showed that failure to imitate observed manual movements correlated with diminished mu suppression in patients with damage to the right inferior parietal lobule and in patients with damage to the right inferior frontal gyrus pars opercularis-areas where major components of the human MNS are assumed to reside. Voxel-based lesion symptom mapping revealed a significant impact on imitation capacity for the left inferior and superior parietal lobules and the left post central gyrus. Both left and right hemisphere damages were associated with imitation failure typical of IMA, yet a clear demonstration of relationship to the MNS was obtained only in the right hemisphere damage group. Suppression of the 8-10 Hz range was stronger in central compared with occipital sites, pointing to a dominant implication of mu rather than alpha rhythms. However, the suppression correlated with De Renzi's apraxia test scores not only in central but also in occipital sites, suggesting a multifactorial mechanism for IMA, with a possible

  9. Intensive treatment with ultrasound visual feedback for speech sound errors in childhood apraxia

    Directory of Open Access Journals (Sweden)

    Jonathan L Preston

    2016-08-01

    Full Text Available Ultrasound imaging is an adjunct to traditional speech therapy that has shown to be beneficial in the remediation of speech sound errors. Ultrasound biofeedback can be utilized during therapy to provide clients additional knowledge about their tongue shapes when attempting to produce sounds that are in error. The additional feedback may assist children with childhood apraxia of speech in stabilizing motor patterns, thereby facilitating more consistent and accurate productions of sounds and syllables. However, due to its specialized nature, ultrasound visual feedback is a technology that is not widely available to clients. Short-term intensive treatment programs are one option that can be utilized to expand access to ultrasound biofeedback. Schema-based motor learning theory suggests that short-term intensive treatment programs (massed practice may assist children in acquiring more accurate motor patterns. In this case series, three participants ages 10-14 diagnosed with childhood apraxia of speech attended 16 hours of speech therapy over a two-week period to address residual speech sound errors. Two participants had distortions on rhotic sounds, while the third participant demonstrated lateralization of sibilant sounds. During therapy, cues were provided to assist participants in obtaining a tongue shape that facilitated a correct production of the erred sound. Additional practice without ultrasound was also included. Results suggested that all participants showed signs of acquisition of sounds in error. Generalization and retention results were mixed. One participant showed generalization and retention of sounds that were treated; one showed generalization but limited retention; and the third showed no evidence of generalization or retention. Individual characteristics that may facilitate generalization are discussed. Short-term intensive treatment programs using ultrasound biofeedback may result in the acquisition of more accurate motor

  10. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

    OpenAIRE

    Fogel, Brent L.; Cho, Ellen; Wahnich, Amanda; Gao, Fuying; Becherel, Olivier J.; Wang, Xizhe; Fike, Francesca; Chen, Leslie; Criscuolo, Chiara; De Michele, Giuseppe; Filla, Alessandro; Collins, Abigail; Hahn, Angelika F.; Gatti, Richard A.; Konopka, Genevieve

    2014-01-01

    Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional role of senataxin in disease, we examined differential gene expression in AOA2 patient fibroblasts, identifying a core set of genes showing altered expression by microarray and ...

  11. Manifestações da apraxia de fala na doença de Alzheimer Manifestations of apraxia of speech in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Maysa Luchesi Cera

    2011-09-01

    Full Text Available OBJETIVO: Identificar as manifestações práxicas de pacientes com doença de Alzheimer em diferentes estágios da doença e verificar as similaridades entre as suas ocorrências. MÉTODOS: Foram avaliados noventa pacientes com doença de Alzheimer, 30 em cada fase da doença (leve, moderada e grave, por meio dos instrumentos: Escala de Avaliação Clínica da Demência (CDR, Mini-Exame do Estado Mental (MEEM, Avaliação das Atividades Instrumentais de Vida Diária (Índice Lawton e Protocolo de Avaliação da Apraxia Verbal e Não-verbal. Foram avaliados 66 pacientes do gênero feminino e 24 do masculino, a média da idade foi 80,2±7,2 e da escolaridade foi 4,2±3,5 anos. RESULTADOS: Na fase leve, as proporções de ensaio, repetição e adição foram semelhantes, assim como omissão, substituição e autocorreção. Na fase moderada foram semelhantes: ensaio e repetição, substituição, omissão e adição, e autocorreção. Na fase grave, todas as manifestações se assemelharam, exceto a adição. O erro do tipo adição diferenciou os pacientes em relação às fases da doença. CONCLUSÃO: Os pacientes dos três estágios da doença apresentam diferentes padrões de manifestações práxicas verbais.PURPOSE: To identify praxic speech manifestations in patients diagnosed with different stages of Alzheimer's disease, and to verify similarities among their occurrences. METHODS: Participants were 90 patients with Alzheimer's, 30 in each stage of the disease (mild, moderate and severe, who were assessed using the following instruments: Clinical Dementia Rating (CDR, Mini-Mental State Examination (MMSE, Lawton Instrumental Activities of Daily Living, and the Assessment Protocol of Verbal and Orofacial Apraxia. Sixty six female subjects and 24 male subjects were assessed; mean age was 80.2±7.2 years, and mean level of education was 4.2±3.5 years. RESULTS: In the mild stage, the proportions of trial-and-error, repetition and addition were

  12. A 58-year-old female with blurred vision and apraxia

    Directory of Open Access Journals (Sweden)

    Zhi-hong SHI

    2014-07-01

    Full Text Available A 58-year-old right handed woman, with 12 years of formal education, had a five-year history of slowly progressive blurred vision and apraxia. Five years before the examination she gradually became blurred vision and had difficulties identifying static objects within the visual field. Then she went to an ophthalmologist and received cataract surgery. However, the symptoms were not improved after surgery. Two years later, she had difficulty doing household chores and was unable to dress herself. She developed an anxiety disorder in the absence of prominent language or memory deficits. Five years after onset, she showed global cognitive decline and abilities of daily life decline. On neurological examination she was alert. Neuropsychological testing revealed a mini-mental state examination (MMSE score of 20/30 with anomia, agraphia, alexia and partial impairment on time orientation. Biochemical investigations for disorders involving thyroid function, vitamin B12, and folate were unremarkable. A brain MRI showed diffuse cortical atrophy and hippocampus atrophy. An 18F-FDG PET scan showed bilateral hypometabolism at the frontal lobes, tempoparietooccipital adjunction, posterior cingulate cortices and precuneus, insular lobes, caudate nuclei and right thalamus. An 11C-PIB PET scan showed bilateral amyloid deposits at bilateral frontal lobes and occipital lobes, left temporal lobe and insular, basal ganglia, bilateral cingulate cortices and precuneus. No PSEN1, PSEN2 or APP mutations were identified. This early-onset patient had an unusual cognitive complaint, including visual agnosia and apraxia. The clinical features, structural and functional imaging findings of this case were compatible with the diagnosis of Posterior Cortical Atrophy (PCA. PCA is a neurodegenerative condition characterized by a progressive, often dramatic and relatively selective decline in visual processing skills and other functions subserved by parietal, occipital and

  13. Inconsistency of speech in children with childhood apraxia of speech, phonological disorders, and typical speech

    Science.gov (United States)

    Iuzzini, Jenya

    There is a lack of agreement on the features used to differentiate Childhood Apraxia of Speech (CAS) from Phonological Disorders (PD). One criterion which has gained consensus is lexical inconsistency of speech (ASHA, 2007); however, no accepted measure of this feature has been defined. Although lexical assessment provides information about consistency of an item across repeated trials, it may not capture the magnitude of inconsistency within an item. In contrast, segmental analysis provides more extensive information about consistency of phoneme usage across multiple contexts and word-positions. The current research compared segmental and lexical inconsistency metrics in preschool-aged children with PD, CAS, and typical development (TD) to determine how inconsistency varies with age in typical and disordered speakers, and whether CAS and PD were differentiated equally well by both assessment levels. Whereas lexical and segmental analyses may be influenced by listener characteristics or speaker intelligibility, the acoustic signal is less vulnerable to these factors. In addition, the acoustic signal may reveal information which is not evident in the perceptual signal. A second focus of the current research was motivated by Blumstein et al.'s (1980) classic study on voice onset time (VOT) in adults with acquired apraxia of speech (AOS) which demonstrated a motor impairment underlying AOS. In the current study, VOT analyses were conducted to determine the relationship between age and group with the voicing distribution for bilabial and alveolar plosives. Findings revealed that 3-year-olds evidenced significantly higher inconsistency than 5-year-olds; segmental inconsistency approached 0% in 5-year-olds with TD, whereas it persisted in children with PD and CAS suggesting that for child in this age-range, inconsistency is a feature of speech disorder rather than typical development (Holm et al., 2007). Likewise, whereas segmental and lexical inconsistency were

  14. Right lower limb apraxia in a patient with left supplementary motor area infarction: intactness of the corticospinal tract confirmed by transcranial magnetic stimulation

    Directory of Open Access Journals (Sweden)

    Min Cheol Chang

    2015-01-01

    Full Text Available We reported a 50-year-old female patient with left supplementary motor area infarction who presented right lower limb apraxia and investigated the possible causes using transcranial magnetic stimulation. The patient was able to walk and climb stairs spontaneously without any assistance at 3 weeks after onset. However, she was unable to intentionally move her right lower limb although she understood what she supposed to do. The motor evoked potential evoked by transcranial magnetic stimulation from the right lower limb was within the normal range, indicating that the corticospinal tract innervating the right lower limb was uninjured. Thus, we thought that her motor dysfunction was not induced by motor weakness, and confirmed her symptoms as apraxia. In addition, these results also suggest that transcranial magnetic stimulation is helpful for diagnosing apraxia.

  15. Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

    Science.gov (United States)

    Marignier, Stéphanie; Lesca, Gaetan; Marguin, Jessica; Bussy, Gérald; Sanlaville, Damien; des Portes, Vincent

    2012-06-01

    We report an 11-year-old girl for whom the diagnosis of cri du chat syndrome (CdCS) was made during a genetic investigation of childhood apraxia of speech. The patient presented with the classic chromosome 5 short arm deletion found in CdCS. The microdeletion, characterised using aCGH (array Comparative Genomic Hybridisation), was 12.85 Mb, overlapping the 5p15.2 and 5p15.3 critical regions. CdCS is typically associated with severe mental retardation while this patient had normal intellectual performance, confirmed by normal results from categorisation tasks. This mild phenotype was assessed using a comprehensive cognitive battery. Language evaluation showed normal receptive vocabulary scores, in contrast with obvious oro-facial dyspraxia. Disabled fine motor skills were confirmed as well as weak visuo-spatial reasoning abilities. In conclusion, fine cognitive assessment may be worthwhile for patients with CdCS since good intellectual functioning may be masked by severe speech and gestural dyspraxia, thus requiring specific teaching and rehabilitation strategies.

  16. Childhood apraxia of speech: children at risk for persistent reading and spelling disorder.

    Science.gov (United States)

    Gillon, Gail T; Moriarty, Brigid C

    2007-02-01

    This article discusses written language development in children with childhood apraxia of speech (CAS). Children with CAS are at risk for persistent reading and spelling disorder in addition to their spoken communication difficulties. The article highlights four factors that increase the risk of written language disorder in this population: (1) the nature of the speech disorder, (2) the presence of phonological awareness difficulties, (3) genetic risk factors, and (4) the negative impact of early reading difficulty on later written language development. The article suggests that traditional approaches used to target articulation in CAS may do little to develop skills that are critical to early literacy acquisition and stresses the importance of integrating speech, phonological awareness, and literacy goals for this population. Data presented from a pilot intervention study with three children with CAS aged 6 and 7 years highlight the potential benefit of an integrated phonological awareness approach to improve simultaneously speech, phonological awareness, and decoding ability. The need for further empirical evaluation of treatment approaches designed to improve the spoken and written language outcomes of children with CAS is emphasized. PMID:17340382

  17. Treatment for Apraxia of Speech in Nonfluent Variant Primary Progressive Aphasia

    Directory of Open Access Journals (Sweden)

    M. L. Henry

    2013-01-01

    Full Text Available There is a growing body of literature examining the utility of behavioral treatment in primary progressive aphasia (PPA. There are, however, no studies exploring treatment approaches to improve speech production in individuals with apraxia of speech (AOS associated with the nonfluent variant of PPA. The purpose of this study was to examine a novel approach to treatment of AOS in nonfluent PPA. We implemented a treatment method using structured oral reading as a tool for improving production of multisyllabic words in an individual with mild AOS and nonfluent variant PPA. Our participant showed a reduction in speech errors during reading of novel text that was maintained at one year post-treatment. Generalization of improved speech production was observed on repetition of words and sentences and the participant showed stability of speech production over time in connected speech. Results suggest that oral reading treatment may offer an efficient and effective means of addressing multisyllabic word production in AOS associated with nonfluent PPA, with lasting and generalized treatment effects.

  18. The role of metrical information in apraxia of speech. Perceptual and acoustic analyses of word stress.

    Science.gov (United States)

    Aichert, Ingrid; Späth, Mona; Ziegler, Wolfram

    2016-02-01

    Several factors are known to influence speech accuracy in patients with apraxia of speech (AOS), e.g., syllable structure or word length. However, the impact of word stress has largely been neglected so far. More generally, the role of prosodic information at the phonetic encoding stage of speech production often remains unconsidered in models of speech production. This study aimed to investigate the influence of word stress on error production in AOS. Two-syllabic words with stress on the first (trochees) vs. the second syllable (iambs) were compared in 14 patients with AOS, three of them exhibiting pure AOS, and in a control group of six normal speakers. The patients produced significantly more errors on iambic than on trochaic words. A most prominent metrical effect was obtained for segmental errors. Acoustic analyses of word durations revealed a disproportionate advantage of the trochaic meter in the patients relative to the healthy controls. The results indicate that German apraxic speakers are sensitive to metrical information. It is assumed that metrical patterns function as prosodic frames for articulation planning, and that the regular metrical pattern in German, the trochaic form, has a facilitating effect on word production in patients with AOS. PMID:26792367

  19. Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

    Science.gov (United States)

    Marignier, Stéphanie; Lesca, Gaetan; Marguin, Jessica; Bussy, Gérald; Sanlaville, Damien; des Portes, Vincent

    2012-06-01

    We report an 11-year-old girl for whom the diagnosis of cri du chat syndrome (CdCS) was made during a genetic investigation of childhood apraxia of speech. The patient presented with the classic chromosome 5 short arm deletion found in CdCS. The microdeletion, characterised using aCGH (array Comparative Genomic Hybridisation), was 12.85 Mb, overlapping the 5p15.2 and 5p15.3 critical regions. CdCS is typically associated with severe mental retardation while this patient had normal intellectual performance, confirmed by normal results from categorisation tasks. This mild phenotype was assessed using a comprehensive cognitive battery. Language evaluation showed normal receptive vocabulary scores, in contrast with obvious oro-facial dyspraxia. Disabled fine motor skills were confirmed as well as weak visuo-spatial reasoning abilities. In conclusion, fine cognitive assessment may be worthwhile for patients with CdCS since good intellectual functioning may be masked by severe speech and gestural dyspraxia, thus requiring specific teaching and rehabilitation strategies. PMID:22510527

  20. Heterogeneidad clínica de la demencia y severidad de la apraxia en pacientes con demencia tipo Alzheimer

    Directory of Open Access Journals (Sweden)

    Daniel G. Politis

    2013-11-01

    Full Text Available La evolución clínica de la Enfermedad de Alzheimer presenta gran heterogeneidad clínica. Se han descripto diferentes subtipos clínicos, entre ellos Mayeux et al. (1985 reportan la existencia de 4, que presentan diferentes niveles de severidad cognitiva y funcional. La diversidad clínica de estos no ha sido claramente investigada.La evolución clínica de la Enfermedad de Alzheimer presenta gran heterogeneidad clínica. Se han descripto diferentes subtipos clínicos, entre ellos Mayeux et al. (1985 reportan la existencia de 4, que presentan diferentes niveles de severidad cognitiva y funcional. La diversidad clínica de estos no ha sido claramente investigada.Objetivos: estudiar la severidad de demencia, la severidad de la apraxia y el deterioro funcional en relación con los subtipos clínicos de Mayeux en pacientes con Demencia tipo Alzheimer (DTA. Se evaluaron 49 pacientes con diagnóstico de DTA. Se encontraron correlaciones estadísticamente significativas entre la clasificación de Mayeux con la severidad de la demencia, la severidad de la apraxia y el deterioro funcional.La severidad de demencia, de la apraxia y el deterioro funcional parece acompañar los diferentes subtipos clínicos descriptos por Mayeux, por lo cual la evaluación y detección de las mismas podrían contribuir a la clasificación clínica y pronóstico de la DTA.

  1. Clinical and MRI models predicting amyloid deposition in progressive aphasia and apraxia of speech

    Directory of Open Access Journals (Sweden)

    Jennifer L. Whitwell

    2016-01-01

    Full Text Available Beta-amyloid (Aβ deposition can be observed in primary progressive aphasia (PPA and progressive apraxia of speech (PAOS. While it is typically associated with logopenic PPA, there are exceptions that make predicting Aβ status challenging based on clinical diagnosis alone. We aimed to determine whether MRI regional volumes or clinical data could help predict Aβ deposition. One hundred and thirty-nine PPA (n = 97; 15 agrammatic, 53 logopenic, 13 semantic and 16 unclassified and PAOS (n = 42 subjects were prospectively recruited into a cross-sectional study and underwent speech/language assessments, 3.0 T MRI and C11-Pittsburgh Compound B PET. The presence of Aβ was determined using a 1.5 SUVR cut-point. Atlas-based parcellation was used to calculate gray matter volumes of 42 regions-of-interest across the brain. Penalized binary logistic regression was utilized to determine what combination of MRI regions, and what combination of speech and language tests, best predicts Aβ (+ status. The optimal MRI model and optimal clinical model both performed comparably in their ability to accurately classify subjects according to Aβ status. MRI accurately classified 81% of subjects using 14 regions. Small left superior temporal and inferior parietal volumes and large left Broca's area volumes were particularly predictive of Aβ (+ status. Clinical scores accurately classified 83% of subjects using 12 tests. Phonological errors and repetition deficits, and absence of agrammatism and motor speech deficits were particularly predictive of Aβ (+ status. In comparison, clinical diagnosis was able to accurately classify 89% of subjects. However, the MRI model performed well in predicting Aβ deposition in unclassified PPA. Clinical diagnosis provides optimum prediction of Aβ status at the group level, although regional MRI measurements and speech and language testing also performed well and could have advantages in predicting Aβ status in unclassified

  2. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

    Science.gov (United States)

    Peter, Beate; Wijsman, Ellen M; Nato, Alejandro Q; Matsushita, Mark M; Chapman, Kathy L; Stanaway, Ian B; Wolff, John; Oda, Kaori; Gabo, Virginia B; Raskind, Wendy H

    2016-01-01

    Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1) on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS. PMID:27120335

  3. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

    Directory of Open Access Journals (Sweden)

    Beate Peter

    Full Text Available Childhood apraxia of speech (CAS is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1 on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS.

  4. Clinical and MRI models predicting amyloid deposition in progressive aphasia and apraxia of speech.

    Science.gov (United States)

    Whitwell, Jennifer L; Weigand, Stephen D; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Senjem, Matthew L; Gunter, Jeffrey L; Lowe, Val J; Jack, Clifford R; Josephs, Keith A

    2016-01-01

    Beta-amyloid (Aβ) deposition can be observed in primary progressive aphasia (PPA) and progressive apraxia of speech (PAOS). While it is typically associated with logopenic PPA, there are exceptions that make predicting Aβ status challenging based on clinical diagnosis alone. We aimed to determine whether MRI regional volumes or clinical data could help predict Aβ deposition. One hundred and thirty-nine PPA (n = 97; 15 agrammatic, 53 logopenic, 13 semantic and 16 unclassified) and PAOS (n = 42) subjects were prospectively recruited into a cross-sectional study and underwent speech/language assessments, 3.0 T MRI and C11-Pittsburgh Compound B PET. The presence of Aβ was determined using a 1.5 SUVR cut-point. Atlas-based parcellation was used to calculate gray matter volumes of 42 regions-of-interest across the brain. Penalized binary logistic regression was utilized to determine what combination of MRI regions, and what combination of speech and language tests, best predicts Aβ (+) status. The optimal MRI model and optimal clinical model both performed comparably in their ability to accurately classify subjects according to Aβ status. MRI accurately classified 81% of subjects using 14 regions. Small left superior temporal and inferior parietal volumes and large left Broca's area volumes were particularly predictive of Aβ (+) status. Clinical scores accurately classified 83% of subjects using 12 tests. Phonological errors and repetition deficits, and absence of agrammatism and motor speech deficits were particularly predictive of Aβ (+) status. In comparison, clinical diagnosis was able to accurately classify 89% of subjects. However, the MRI model performed well in predicting Aβ deposition in unclassified PPA. Clinical diagnosis provides optimum prediction of Aβ status at the group level, although regional MRI measurements and speech and language testing also performed well and could have advantages in predicting Aβ status in unclassified PPA subjects

  5. A predictive model for diagnosing stroke-related apraxia of speech.

    Science.gov (United States)

    Ballard, Kirrie J; Azizi, Lamiae; Duffy, Joseph R; McNeil, Malcolm R; Halaki, Mark; O'Dwyer, Nicholas; Layfield, Claire; Scholl, Dominique I; Vogel, Adam P; Robin, Donald A

    2016-01-29

    Diagnosis of the speech motor planning/programming disorder, apraxia of speech (AOS), has proven challenging, largely due to its common co-occurrence with the language-based impairment of aphasia. Currently, diagnosis is based on perceptually identifying and rating the severity of several speech features. It is not known whether all, or a subset of the features, are required for a positive diagnosis. The purpose of this study was to assess predictor variables for the presence of AOS after left-hemisphere stroke, with the goal of increasing diagnostic objectivity and efficiency. This population-based case-control study involved a sample of 72 cases, using the outcome measure of expert judgment on presence of AOS and including a large number of independently collected candidate predictors representing behavioral measures of linguistic, cognitive, nonspeech oral motor, and speech motor ability. We constructed a predictive model using multiple imputation to deal with missing data; the Least Absolute Shrinkage and Selection Operator (Lasso) technique for variable selection to define the most relevant predictors, and bootstrapping to check the model stability and quantify the optimism of the developed model. Two measures were sufficient to distinguish between participants with AOS plus aphasia and those with aphasia alone, (1) a measure of speech errors with words of increasing length and (2) a measure of relative vowel duration in three-syllable words with weak-strong stress pattern (e.g., banana, potato). The model has high discriminative ability to distinguish between cases with and without AOS (c-index=0.93) and good agreement between observed and predicted probabilities (calibration slope=0.94). Some caution is warranted, given the relatively small sample specific to left-hemisphere stroke, and the limitations of imputing missing data. These two speech measures are straightforward to collect and analyse, facilitating use in research and clinical settings. PMID

  6. Intensive Treatment with Ultrasound Visual Feedback for Speech Sound Errors in Childhood Apraxia.

    Science.gov (United States)

    Preston, Jonathan L; Leece, Megan C; Maas, Edwin

    2016-01-01

    Ultrasound imaging is an adjunct to traditional speech therapy that has shown to be beneficial in the remediation of speech sound errors. Ultrasound biofeedback can be utilized during therapy to provide clients with additional knowledge about their tongue shapes when attempting to produce sounds that are erroneous. The additional feedback may assist children with childhood apraxia of speech (CAS) in stabilizing motor patterns, thereby facilitating more consistent and accurate productions of sounds and syllables. However, due to its specialized nature, ultrasound visual feedback is a technology that is not widely available to clients. Short-term intensive treatment programs are one option that can be utilized to expand access to ultrasound biofeedback. Schema-based motor learning theory suggests that short-term intensive treatment programs (massed practice) may assist children in acquiring more accurate motor patterns. In this case series, three participants ages 10-14 years diagnosed with CAS attended 16 h of speech therapy over a 2-week period to address residual speech sound errors. Two participants had distortions on rhotic sounds, while the third participant demonstrated lateralization of sibilant sounds. During therapy, cues were provided to assist participants in obtaining a tongue shape that facilitated a correct production of the erred sound. Additional practice without ultrasound was also included. Results suggested that all participants showed signs of acquisition of sounds in error. Generalization and retention results were mixed. One participant showed generalization and retention of sounds that were treated; one showed generalization but limited retention; and the third showed no evidence of generalization or retention. Individual characteristics that may facilitate generalization are discussed. Short-term intensive treatment programs using ultrasound biofeedback may result in the acquisition of more accurate motor patterns and improved articulation of

  7. Intensive Treatment with Ultrasound Visual Feedback for Speech Sound Errors in Childhood Apraxia

    Science.gov (United States)

    Preston, Jonathan L.; Leece, Megan C.; Maas, Edwin

    2016-01-01

    Ultrasound imaging is an adjunct to traditional speech therapy that has shown to be beneficial in the remediation of speech sound errors. Ultrasound biofeedback can be utilized during therapy to provide clients with additional knowledge about their tongue shapes when attempting to produce sounds that are erroneous. The additional feedback may assist children with childhood apraxia of speech (CAS) in stabilizing motor patterns, thereby facilitating more consistent and accurate productions of sounds and syllables. However, due to its specialized nature, ultrasound visual feedback is a technology that is not widely available to clients. Short-term intensive treatment programs are one option that can be utilized to expand access to ultrasound biofeedback. Schema-based motor learning theory suggests that short-term intensive treatment programs (massed practice) may assist children in acquiring more accurate motor patterns. In this case series, three participants ages 10–14 years diagnosed with CAS attended 16 h of speech therapy over a 2-week period to address residual speech sound errors. Two participants had distortions on rhotic sounds, while the third participant demonstrated lateralization of sibilant sounds. During therapy, cues were provided to assist participants in obtaining a tongue shape that facilitated a correct production of the erred sound. Additional practice without ultrasound was also included. Results suggested that all participants showed signs of acquisition of sounds in error. Generalization and retention results were mixed. One participant showed generalization and retention of sounds that were treated; one showed generalization but limited retention; and the third showed no evidence of generalization or retention. Individual characteristics that may facilitate generalization are discussed. Short-term intensive treatment programs using ultrasound biofeedback may result in the acquisition of more accurate motor patterns and improved articulation

  8. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech

    Science.gov (United States)

    Wijsman, Ellen M.; Nato, Alejandro Q.; Matsushita, Mark M.; Chapman, Kathy L.; Stanaway, Ian B.; Wolff, John; Oda, Kaori; Gabo, Virginia B.; Raskind, Wendy H.

    2016-01-01

    Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1) on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS. PMID:27120335

  9. A Child with Signs of Developmental Apraxia of Speech with Whom a Palatal Lift Prosthesis Was Used to Manage Palatal Dysfunction.

    Science.gov (United States)

    Hall, Penelope K.; And Others

    1990-01-01

    A 7-year-old girl who exhibited characteristics consistent with developmental apraxia of speech, including excessive nasal resonance and nasal emission of air resulting from velopharyngeal port dysfunction, was fitted with a palatal lift prosthesis and followed for 11 years. Results of use of the lift and speech/language remedial programing are…

  10. Constrained versus Unconstrained Intensive Language Therapy in Two Individuals with Chronic, Moderate-to-Severe Aphasia and Apraxia of Speech: Behavioral and fMRI Outcomes

    Science.gov (United States)

    Kurland, Jacquie; Pulvermuller, Friedemann; Silva, Nicole; Burke, Katherine; Andrianopoulos, Mary

    2012-01-01

    Purpose: This Phase I study investigated behavioral and functional MRI (fMRI) outcomes of 2 intensive treatment programs to improve naming in 2 participants with chronic moderate-to-severe aphasia with comorbid apraxia of speech (AOS). Constraint-induced aphasia therapy (CIAT; Pulvermuller et al., 2001) has demonstrated positive outcomes in some…

  11. 胼胝体梗死所致的发作性拮抗性失用%Paroxysmal diagonistic ideomotor apraxia in ischemic infarction of the corpus callosum

    Institute of Scientific and Technical Information of China (English)

    王亭亭; 贾志荣; 孙葳; 潘涛

    2011-01-01

    Objectives To report the clinical features and treatment in a case with paroxysmal diagonistic ideomotor apraxia after ischemic infarction of the corpus callosum.Methods The neuropsychological tests,brain MRI,the TCD and carotid duplex sonography were carried out in the patient who is right handed and had had presentation of paroxysmal diagonistic ideomotor apraxia for ten days.Results Neuropsychological tests confirmed the diagnosis of paroxysmal diagonistic apraxia in this patient.MRI showed ischemic infarction in the right corpus callosum.The symptomsin the patient were improved after the treatment with aspirin for three months.Conclusion The infarction of corpus callosum may induce paroxysmal diagonistic apraxia.%目的 探讨胼胝体梗死引起拮抗性失用的特点和机制.方法 对1例表现为发作性拮抗性失用的患者,分别进行神经心理、头颅磁共振、颈CT血管成像检查.结果 神经心理检查提示为拮抗性失用,头MRI示右侧胼胝体梗死,予抗血小板,改善脑循环治疗后发作减少.结论 胼胝体梗死可以引起发作性拮抗性失用为特征的神经心理症状.

  12. Associations among Measures of Sequential Processing in Motor and Linguistics Tasks in Adults with and without a Family History of Childhood Apraxia of Speech: A Replication Study

    Science.gov (United States)

    Button, Le; Peter, Beate; Stoel-Gammon, Carol; Raskind, Wendy H.

    2013-01-01

    The purpose of this study was to address the hypothesis that childhood apraxia of speech (CAS) is influenced by an underlying deficit in sequential processing that is also expressed in other modalities. In a sample of 21 adults from five multigenerational families, 11 with histories of various familial speech sound disorders, 3 biologically…

  13. [A case with apraxia of tool use: selective inability to form a hand posture for a tool].

    Science.gov (United States)

    Hayakawa, Yuko; Fujii, Toshikatsu; Yamadori, Atsushi; Meguro, Kenichi; Suzuki, Kyoko

    2015-03-01

    Impaired tool use is recognized as a symptom of ideational apraxia. While many studies have focused on difficulties in producing gestures as a whole, using tools involves several steps; these include forming hand postures appropriate for the use of certain tool, selecting objects or body parts to act on, and producing gestures. In previously reported cases, both producing and recognizing hand postures were impaired. Here we report the first case showing a selective impairment of forming hand postures appropriate for tools with preserved recognition of the required hand postures. A 24-year-old, right-handed man was admitted to hospital because of sensory impairment of the right side of the body, mild aphasia, and impaired tool use due to left parietal subcortical hemorrhage. His ability to make symbolic gestures, copy finger postures, and orient his hand to pass a slit was well preserved. Semantic knowledge for tools and hand postures was also intact. He could flawlessly select the correct hand postures in recognition tasks. He only demonstrated difficulties in forming a hand posture appropriate for a tool. Once he properly grasped a tool by trial and error, he could use it without hesitation. These observations suggest that each step of tool use should be thoroughly examined in patients with ideational apraxia.

  14. Perceptual decisions regarding object manipulation are selectively impaired in apraxia or when tDCS is applied over the left IPL.

    Science.gov (United States)

    Evans, Carys; Edwards, Martin G; Taylor, Lawrence J; Ietswaart, Magdalena

    2016-06-01

    This study evaluated whether apraxia can be understood as due to impaired motor representations or motor imagery necessary for appropriate object-use, imitation, and pantomime. The causal role of the left inferior parietal lobe (IPL), which is heavily implicated in apraxia, is also evaluated. These processes are appraised in light of the proposed ventro-dorsal sub-stream of the classic two visual pathway model, where perceptual information from the ventral stream and the dorsal action stream are integrated and essential for object manipulation. Using a task assessing object-use perception, stroke patients with apraxia demonstrated a selective deficit during perceptual decisions reliant on the integration of visible and known object properties to select the appropriate grasp for object-use. This deficit increased with apraxia severity. A dissociation was evident in these patients showing intact non-motoric perceptual decisions regarding the functional semantic relationship between two objects in the absence of the actor (e.g. how a hammer hits a nail). Converging evidence was found using a modified version of the same task in a neuromodulation study that directly targeted the left IPL in healthy participants using transcranial direct current stimulation (tDCS). Application of inhibitory stimulation over the left IPL reduced performance during perceptual decisions regarding object manipulation whilst performance was unaffected during functional semantic decisions. Excitatory stimulation of the left IPL did not affect performance in either task. Combined, these results suggest that the left inferior parietal lobe is critical for motor imagery, and that apraxia may be caused by an inability to use internal motor representations of object manipulation. These results are discussed in terms of motoric and non-motoric perceptual processes and the proposal of an additional ventro-dorsal sub-stream within the dorsal and ventral visual pathways model. PMID:27109034

  15. Actividades para la corrección de la apraxia constructiva en pacientes con secuelas de enfermedad cerebro-vascular = Activities for the correction of constructive apraxia in patients with sequels of brain-vascular illness

    Directory of Open Access Journals (Sweden)

    Torres Aguilar, Maydane

    2008-09-01

    Full Text Available RESUMENObjetivo: Evaluar un sistema de actividades realizadas para la corrección y compensación de la apraxia constructiva después de la exploración neuropsicológica. Método: Con el propósito de evaluar este sistema de actividades, se realizó un estudio prospectivo experimental con 15 pacientes que permanecieron en el Centro Internacional de Investigaciones y Restauración Neurológica (CIREN durante un período de 54 días que recibieron tratamiento defectológico (Terapia Ocupacional diario. En consecuencia se aplicó una escala evaluativa pre y post-intervención terapéutica comparándose los resultados.Resultados: A través de la escala de puntaje aplicada se obtuvo un incremento de recuperación en cuanto a la realización de las actividades sin niveles de ayuda ni modelos previos de un 93,4% post-intervención, como promedio, en los pacientes analizados.Conclusiones: Se observó una mejor asociación entre la idea del movimiento y la ejecución motora así como entre la percepción visual y la acción apropiada, después de la intervención.SUMMARYA great number of patients with Encephalic Static Lesions suffer psychic and motor alterations that avoid him to develop it more usually possible in his social environment. One of the psychic alterations that are frequently presented is the constructive apraxia which can appear in different grades, depending among other factors, of the severity of the damage. This unchains difficulties that go from the less complex, as the reproduction of drawings until others of more complexity like daily basic activities. Objectives: Evaluate system of activities for correction and/or compensation the constructive apraxia after neuro-psychological exploration. Methods and Material: With the proposal to check the effectiveness of this system of activities we carry out a prospective and experimental study with 15 patients that were in CIREN (International Centre of Research and Neurological Restoration

  16. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

    LENUS (Irish Health Repository)

    Anheim, M

    2009-10-01

    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 microg\\/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 microg\\/l, P = 0.0004; itself higher than the normal level (3.4 microg\\/l, range from 0.5 to 17.2 microg\\/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or =7 microg\\/l, is 0.23% and the probability for a non-Friedreich ataxia non

  17. Distinct regional anatomic and functional correlates of neurodegenerative apraxia of speech and aphasia: an MRI and FDG-PET study.

    Science.gov (United States)

    Whitwell, Jennifer L; Duffy, Joseph R; Strand, Edythe A; Xia, Rong; Mandrekar, Jay; Machulda, Mary M; Senjem, Matthew L; Lowe, Val J; Jack, Clifford R; Josephs, Keith A

    2013-06-01

    Progressive apraxia of speech (AOS) can result from neurodegenerative disease and can occur in isolation or in the presence of agrammatic aphasia. We aimed to determine the neuroanatomical and metabolic correlates of progressive AOS and aphasia. Thirty-six prospectively recruited subjects with progressive AOS or agrammatic aphasia, or both, underwent the Western Aphasia Battery (WAB) and Token Test to assess aphasia, an AOS rating scale (ASRS), 3T MRI and 18-F fluorodeoxyglucose (FDG) PET. Correlations between clinical measures and imaging were assessed. The only region that correlated to ASRS was left superior premotor volume. In contrast, WAB and Token Test correlated with hypometabolism and volume of a network of left hemisphere regions, including pars triangularis, pars opercularis, pars orbitalis, middle frontal gyrus, superior temporal gyrus, precentral gyrus and inferior parietal lobe. Progressive agrammatic aphasia and AOS have non-overlapping regional correlations, suggesting that these are dissociable clinical features that have different neuroanatomical underpinnings. PMID:23542727

  18. Paving the Way for Speech: Voice-Training-Induced Plasticity in Chronic Aphasia and Apraxia of Speech—Three Single Cases

    OpenAIRE

    Monika Jungblut; Walter Huber; Christiane Mais; Ralph Schnitker

    2014-01-01

    Difficulties with temporal coordination or sequencing of speech movements are frequently reported in aphasia patients with concomitant apraxia of speech (AOS). Our major objective was to investigate the effects of specific rhythmic-melodic voice training on brain activation of those patients. Three patients with severe chronic nonfluent aphasia and AOS were included in this study. Before and after therapy, patients underwent the same fMRI procedure as 30 healthy control subjects in our prestu...

  19. Creation and design of a test for the Evaluation of Upper Limb Apraxia (EULA) based on a cognitive model: a pilot study.

    Science.gov (United States)

    Perez-Marmol, José Manuel; Lopez-Alcalde, Samuel; Carnero-Pardo, Cristóbal; Canadas-De la Fuente, Guillermo A; Peralta-Ramirez, M Isabel; Garcia-Rios, M Carmen

    2015-01-16

    Introduccion. La apraxia es un trastorno neurologico caracterizado por la dificultad en la ejecucion de habilidades gestuales aprendidas a pesar de tener preservados los sistemas motores y sensoriales, la coordinacion y la comprension, asi como de una adecuada colaboracion. Actualmente, existen pocas herramientas validadas que evaluen este sindrome de manera global. En el presente estudio, se ha creado y diseñado un test para la evaluacion de la apraxia de los miembros superiores (EULA), basado en modelos teoricos. Sujetos y metodos. Se selecciono una poblacion de 57 pacientes con quejas subjetivas de deterioro cognitivo y 39 personas sin quejas ni deterioro cognitivo, a las cuales se les administro el test EULA, entre otros tests. Se realizo un analisis factorial de componentes principales y un calculo tanto de la fiabilidad como de la validez de dicho instrumento. Resultados. El analisis factorial agrupo en nueve factores todos los items de la prueba, con una varianza total explicada del 69,91%. El test ha mostrado una alta fiabilidad, con un alfa de Cronbach de 0,929 y un coeficiente de Guttman de 0,870 con el metodo de las dos mitades. El test tambien mostro tener una adecuada validez de constructo, al existir correlacion significativa entre seis factores del test y dos subtests de apraxia. Conclusiones. El test EULA, surgido de las propuestas de evaluacion a nivel teorico desarrolladas por diferentes autores, muestra una puntuacion superior en personas sanas respecto a personas con manifestaciones subjetivas de deterioro cognitivo, ademas de tener una alta fiabilidad y validez de constructo.

  20. Progressive ataxia associated with ocular apraxia type 1 (AOA1 with a presence of a novel mutation on the aprataxin gene

    Directory of Open Access Journals (Sweden)

    Abdul Qayyum Rana

    2013-01-01

    Full Text Available Ataxia, although rare, can be a symptom of many debilitating movement disorders. Hereditary ataxias are one subset of this condition and manifest when there is a genetic abnormality involved. Ataxia oculomotor apraxia type 1 (AOA1, an autosomal recessive ataxia, results from a mutation on the aprataxin gene (APTX. We characterized a novel homozygous deletion mutation (IVS4-12delT on the APTX gene in a 14-year-old male born to consanguineous parents. This case report emphasizes the importance of investigating and increasing awareness of novel genetic mutations in order to help diagnose and further classify hereditary ataxias.

  1. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.

    Science.gov (United States)

    Samango-Sprouse, Carole; Lawson, Patrick; Sprouse, Courtney; Stapleton, Emily; Sadeghin, Teresa; Gropman, Andrea

    2016-05-01

    Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicated severe visual motor deficits: VMI = 51; Visual Perception = 48; Motor Coordination < 45. On the Receptive One Word Picture Vocabulary Test-R (ROWPVT-R), she had standard scores of 96 and 99 in contrast to an Expressive One Word Picture Vocabulary-R (EOWPVT-R) standard scores of 73 and 82, revealing a discrepancy in vocabulary domains on both evaluations. Preschool Language Scale-4 (PLS-4) on PQ's first evaluation reveals a significant difference between auditory comprehension and expressive communication with standard scores of 78 and 57, respectively, further supporting the presence of CAS. This patient's near normal intelligence expands the phenotypic profile as well as the prognosis associated with KS. The identification of CAS in this patient provides a novel explanation for the previously reported speech delay and expressive language disorder. Further research is warranted on the impact of CAS on intelligence and behavioral outcome in KS. Therapeutic and prognostic implications are discussed. PMID:26833960

  2. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

    Science.gov (United States)

    Fogel, Brent L; Cho, Ellen; Wahnich, Amanda; Gao, Fuying; Becherel, Olivier J; Wang, Xizhe; Fike, Francesca; Chen, Leslie; Criscuolo, Chiara; De Michele, Giuseppe; Filla, Alessandro; Collins, Abigail; Hahn, Angelika F; Gatti, Richard A; Konopka, Genevieve; Perlman, Susan; Lavin, Martin F; Geschwind, Daniel H; Coppola, Giovanni

    2014-09-15

    Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional role of senataxin in disease, we examined differential gene expression in AOA2 patient fibroblasts, identifying a core set of genes showing altered expression by microarray and RNA-sequencing. To determine whether AOA2 and ALS4 mutations differentially affect gene expression, we overexpressed disease-specific SETX mutations in senataxin-haploinsufficient fibroblasts and observed changes in distinct sets of genes. This implicates mutation-specific alterations of senataxin function in disease pathogenesis and provides a novel example of allelic neurogenetic disorders with differing gene expression profiles. Weighted gene co-expression network analysis (WGCNA) demonstrated these senataxin-associated genes to be involved in both mutation-specific and shared functional gene networks. To assess this in vivo, we performed gene expression analysis on peripheral blood from members of 12 different AOA2 families and identified an AOA2-specific transcriptional signature. WGCNA identified two gene modules highly enriched for this transcriptional signature in the peripheral blood of all AOA2 patients studied. These modules were disease-specific and preserved in patient fibroblasts and in the cerebellum of Setx knockout mice demonstrating conservation across species and cell types, including neurons. These results identify novel genes and cellular pathways related to senataxin function in normal and disease states, and implicate alterations in gene expression as underlying the phenotypic differences between AOA2 and ALS4. PMID:24760770

  3. Preliminary study on apraxia of Alzheimer's disease patients%阿尔茨海默病患者运用功能的初步研究

    Institute of Scientific and Technical Information of China (English)

    陈巨罗; 陈新贵; 胡盼盼; 尹长林; 汪凯

    2013-01-01

    目的 通过对阿尔茨海默病(Alzheimer's disease,AD)患者的观念运用和及物运用功能的研究,初步了解AD患者的运用能力及运用功能障碍的类型和机制.方法 采用功能匹配(包括对图片物体命名及功能相关选择)、及物使用工具、新工具任务和图片命名任务,对20例AD患者以及20例对照组的运用功能进行对照研究.结果 AD患者的运用功能明显下降,与对照组相比,物体命名、功能匹配、及物使用工具、新工具任务和有生命图片及无生命图片命名测试差异均有统计学意义(分别为t=-6.45,-5.94,-4.16,-4.81,-2.17,-2.08;均P<0.05).相关分析提示AD患者的AD评定量表-认知部分(ADAS-cog)、简明精神状态检查(MMSE)、日常生活能力量表(ADL)评分与运用功能有显著性相关(P<0.05).结论 AD患者在各项运用功能中均有损害,主要表现在观念运动性和观念性失用,其中以概念损害更严重,推测AD患者的失用可能是由于语义加工的障碍所致.%Objective To understand the capacity of application,and discuss the types as well as the mechanism of these dysfunctions.Methods A battery of neuropsychological tests including tool naming,tool naming by function,using of transitive tools,novel task test and naming photographs (living and inanimate) were applied in this study.20 AD patients and 20 healthy controls were enrolled in the study.Results The AD patients performed worse than the controls on the tool naming,tool naming by function,application of transitive tool,novel task test,naming tasks of living and inanimate pictures.The results represented significance in all of the tests (t =-6.54,-5.94,-4.16,-4.81,-2.17,-2.08 ; P < 0.05).There were significant correlations between the performances in application the tasks and the ADAS-cog,MMSE and ADL scores (P < 0.05).Conclusion The findings indicate that AD patients have apraxia,mainly impairment in ideomotor apraxia and ideational apraxia

  4. Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study.

    Science.gov (United States)

    Button, Le; Peter, Beate; Stoel-Gammon, Carol; Raskind, Wendy H

    2013-03-01

    The purpose of this study was to address the hypothesis that childhood apraxia of speech (CAS) is influenced by an underlying deficit in sequential processing that is also expressed in other modalities. In a sample of 21 adults from five multigenerational families, 11 with histories of various familial speech sound disorders, 3 biologically related adults from a family with familial CAS showed motor sequencing deficits in an alternating motor speech task. Compared with the other adults, these three participants showed deficits in tasks requiring high loads of sequential processing, including nonword imitation, nonword reading and spelling. Qualitative error analyses in real word and nonword imitations revealed group differences in phoneme sequencing errors. Motor sequencing ability was correlated with phoneme sequencing errors during real word and nonword imitation, reading and spelling. Correlations were characterized by extremely high scores in one family and extremely low scores in another. Results are consistent with a central deficit in sequential processing in CAS of familial origin.

  5. Algumas considerações sobre a retomada do ceticismo no período moderno e a acusação de apraxia

    Directory of Open Access Journals (Sweden)

    Rodrigo Pinto de Brito

    2012-06-01

    Full Text Available In this work, we shall introduce the debate occurred in 80’s, between Michael Frede and Myles Burnyeat — after the lectures whose papers were organized under the title: “Doubt and Dogmatism: Studies in Hellenistic Epistemology. Oxford: Claredon Press, 1980”. The debate’s scope were the possibility to concretely live the skepticism and the epoché’s incidence, then we are going to show these two opposed and standard interpretations, and also the possibility to — throw the articulation of those interpretations of Frede and Burnyeat — create another third interpretation, called ‘middle interpretation’, a way to argue in favor of the wide epoché, as thought by Burnyeat, but, as result, the skeptic becomes an ordinary man, as thought by Frede. So, we think we can save the skepticism of apraxia and self-refutability.

  6. 言语失用的言语特征、评价及机制探讨%Characteristics, Evaluation and Mechanism of Apraxia of Speech (review)

    Institute of Scientific and Technical Information of China (English)

    袁永学

    2014-01-01

    言语失用是一种运动性言语障碍,具有特征性的言语表现和相关脑部定位。本文综述言语失用的各种特征性的言语表现及国内外常用的评价方法,探讨言语失用的机制及神经解剖学基础,以增强对言语失用的言语表现和影像学关联性的理解。%Apraxia of speech (AOS) is a motor speech disorder presented with characteristic speech performance and related brain loca-tion. This article reviewed the characteristic speech performance of AOS and common assessments, discussed the mechanism and provided neurological bases of AOS in order to understand the relationship between speech performance and imaging.

  7. Aphasia vs. Apraxia

    Science.gov (United States)

    ... words. Finding the word to express a thought. Understanding grammatical sentences. Reading or writing words or sentences. Therapy approaches for aphasia: Restoring language ability Understanding spoken language Example: Word/picture matching Stimulating word ...

  8. Apraxia of Speech

    Science.gov (United States)

    ... clearly organizing spoken information; problems with reading, writing, spelling, or math; coordination or “motor-skill” problems; and ... question? Information specialists can answer your questions in English or Spanish. Voice: (800) 241-1044 TTY: (800) ...

  9. Scalp electroacupuncture combined with speech training for apraxia of speech with oral and facial apraxia in stroke pa-tients%头穴电针结合言语训练治疗脑卒中言语失用伴口颜面失用的临床研究

    Institute of Scientific and Technical Information of China (English)

    江玉娟; 杨玉霞; 项蓉; 唐诗玲; 鞠海燕; 霍艳玲; 肖琳娜; 姬春雪; 常娥

    2015-01-01

    Objective:To investigate the clinical efficacy of anatomy-located scalp electroacupuncture combined with speech training for apraxia of speech with facial apraxia in stroke patients.Methods:Sixty stroke patients with apraxia of speech were randomly divided into two groups:treatment group and control group (n=30 each).Scalp electroacupuncture combined with speech training was administered in the treatment group,but in control group, only speech training was given.The period of treatment lasted 4 weeks.Evaluations took place before and after the treatment.The changes in counting,sol-fa syllable,pronunciation,one syllable word repetition,two syllable word repetition,and oral and facial apraxia movements were examined in two groups.Results:After treatment for 4 weeks,there was significant improvement on each section of speech apraxia in the two groups (P < 0.05 ).The scores of counting,and repeat counting,one syllable word repetition and two syllable word repetition were signifi-cantly higher in treatment group than in control group (P < 0.05 ).There was no significant differetrnce in the scores of solo,sol-fa syllable,letter repetition etc.After treatment for 4 weeks,the scores of performance ability of oral and facial movement were significantly higher in both two groups (P < 0.01 ),but there was no significant difference between two groups.The scores of imitation ability in treatment group were significantly higher than those before treatment and control group (P <0.01),but there was significant difference in control group before and after treatment.Conclusion:The anatomy-located scalp electroacupuncture combined with speech training can obvi-ously correct the speech apraxia in stroke patients,and improve oral and facial apraxia.%目的::观察头穴电针结合言语训练治疗脑卒中患者言语失用症伴口颜面失用的疗效。方法:将60例脑卒中言语失用症伴口颜面失用的患者随机分为观察组和对照组各30

  10. A comparison of two treatments for childhood apraxia of speech: methods and treatment protocol for a parallel group randomised control trial

    Directory of Open Access Journals (Sweden)

    Murray Elizabeth

    2012-08-01

    Full Text Available Abstract Background Childhood Apraxia of Speech is an impairment of speech motor planning that manifests as difficulty producing the sounds (articulation and melody (prosody of speech. These difficulties may persist through life and are detrimental to academic, social, and vocational development. A number of published single subject and case series studies of speech treatments are available. There are currently no randomised control trials or other well designed group trials available to guide clinical practice. Methods/Design A parallel group, fixed size randomised control trial will be conducted in Sydney, Australia to determine the efficacy of two treatments for Childhood Apraxia of Speech: 1 Rapid Syllable Transition Treatment and the 2 Nuffield Dyspraxia Programme – Third edition. Eligible children will be English speaking, aged 4–12 years with a diagnosis of suspected CAS, normal or adjusted hearing and vision, and no comprehension difficulties or other developmental diagnoses. At least 20 children will be randomised to receive one of the two treatments in parallel. Treatments will be delivered by trained and supervised speech pathology clinicians using operationalised manuals. Treatment will be administered in 1-hour sessions, 4 times per week for 3 weeks. The primary outcomes are speech sound and prosodic accuracy on a customised 292 item probe and the Diagnostic Evaluation of Articulation and Phonology inconsistency subtest administered prior to treatment and 1 week, 1 month and 4 months post-treatment. All post assessments will be completed by blinded assessors. Our hypotheses are: 1 treatment effects at 1 week post will be similar for both treatments, 2 maintenance of treatment effects at 1 and 4 months post will be greater for Rapid Syllable Transition Treatment than Nuffield Dyspraxia Programme treatment, and 3 generalisation of treatment effects to untrained related speech behaviours will be greater for Rapid

  11. Partially Overlapping Sensorimotor Networks Underlie Speech Praxis and Verbal Short-Term Memory: Evidence from Apraxia of Speech Following Acute Stroke

    Directory of Open Access Journals (Sweden)

    Gregory eHickok

    2014-08-01

    Full Text Available We tested the hypothesis that motor planning and programming of speech articulation and verbal short-term memory (vSTM depend on partially overlapping networks of neural regions. We evaluated this proposal by testing 76 individuals with acute ischemic stroke for impairment in motor planning of speech articulation (apraxia of speech; AOS and vSTM in the first day of stroke, before the opportunity for recovery or reorganization of structure-function relationships. We also evaluate areas of both infarct and low blood flow that might have contributed to AOS or impaired vSTM in each person. We found that AOS was associated with tissue dysfunction in motor-related areas (posterior primary motor cortex, pars opercularis; premotor cortex, insula and sensory-related areas (primary somatosensory cortex, secondary somatosensory cortex, parietal operculum/auditory cortex; while impaired vSTM was associated with primarily motor-related areas (pars opercularis and pars triangularis, premotor cortex, and primary motor cortex. These results are consistent with the hypothesis, also supported by functional imaging data, that both speech praxis and vSTM rely on partially overlapping networks of brain regions.

  12. Paving the Way for Speech: Voice-Training-Induced Plasticity in Chronic Aphasia and Apraxia of Speech—Three Single Cases

    Directory of Open Access Journals (Sweden)

    Monika Jungblut

    2014-01-01

    Full Text Available Difficulties with temporal coordination or sequencing of speech movements are frequently reported in aphasia patients with concomitant apraxia of speech (AOS. Our major objective was to investigate the effects of specific rhythmic-melodic voice training on brain activation of those patients. Three patients with severe chronic nonfluent aphasia and AOS were included in this study. Before and after therapy, patients underwent the same fMRI procedure as 30 healthy control subjects in our prestudy, which investigated the neural substrates of sung vowel changes in untrained rhythm sequences. A main finding was that post-minus pretreatment imaging data yielded significant perilesional activations in all patients for example, in the left superior temporal gyrus, whereas the reverse subtraction revealed either no significant activation or right hemisphere activation. Likewise, pre- and posttreatment assessments of patients’ vocal rhythm production, language, and speech motor performance yielded significant improvements for all patients. Our results suggest that changes in brain activation due to the applied training might indicate specific processes of reorganization, for example, improved temporal sequencing of sublexical speech components. In this context, a training that focuses on rhythmic singing with differently demanding complexity levels as concerns motor and cognitive capabilities seems to support paving the way for speech.

  13. Paving the way for speech: voice-training-induced plasticity in chronic aphasia and apraxia of speech--three single cases.

    Science.gov (United States)

    Jungblut, Monika; Huber, Walter; Mais, Christiane; Schnitker, Ralph

    2014-01-01

    Difficulties with temporal coordination or sequencing of speech movements are frequently reported in aphasia patients with concomitant apraxia of speech (AOS). Our major objective was to investigate the effects of specific rhythmic-melodic voice training on brain activation of those patients. Three patients with severe chronic nonfluent aphasia and AOS were included in this study. Before and after therapy, patients underwent the same fMRI procedure as 30 healthy control subjects in our prestudy, which investigated the neural substrates of sung vowel changes in untrained rhythm sequences. A main finding was that post-minus pretreatment imaging data yielded significant perilesional activations in all patients for example, in the left superior temporal gyrus, whereas the reverse subtraction revealed either no significant activation or right hemisphere activation. Likewise, pre- and posttreatment assessments of patients' vocal rhythm production, language, and speech motor performance yielded significant improvements for all patients. Our results suggest that changes in brain activation due to the applied training might indicate specific processes of reorganization, for example, improved temporal sequencing of sublexical speech components. In this context, a training that focuses on rhythmic singing with differently demanding complexity levels as concerns motor and cognitive capabilities seems to support paving the way for speech. PMID:24977055

  14. Effects of transcranial direct current stimulation on swallowing apraxia and cortical excitability%经颅直流电刺激对吞咽失用症及皮质兴奋性的作用

    Institute of Scientific and Technical Information of China (English)

    袁英; 汪洁; 孙妍; 江玉娟; 麻慧; 孙维源; 吴东宇

    2012-01-01

    Objective: To investigate the effects of transcranial direct current stimulation (tDCS) on swallowing apraxia and changes of cortical excitability. Method: Two patients with swallowing apraxia were enrolled in an A-B experiment design: Lingual movement, buecofacial apraxia and feeding were evaluated before and after 3 weeks of surface electrical stimulation combined with swallowing maneuvers (A). The same assessments were evaluated before and after 3 weeks of tDCS (B). EEG nonlinear index approximate entropy(ApEn) was calculated in 1 patient and 6 healthy subjects. EEG was recorded under eyes closed, reflexive swallowing and volitional swallowing conditions. Result: After phase A, there was no improvement in lingual movement, huceofacial apraxia and feeding. After phase B, lingual movements improved significantly, buccofaoial apraxia scores increased from 10 to 34-36, naso-gastric tubes were removed in all patients. Compared with healthy subjects,before tDCS cortical excitabilities of 1 patient's affected central-parietal and post-temporal regions were suppressed in volitional swallowing task, and the excitabilities were significantly lower than that in reflexive swallowing task; while after tDCS there was no significant difference between volitional and reflexive swallowing task. Conclusion: tDCS may provide an effective treatment for promoting recovery of swallowing apraxia, and the recovery may be related to elevated excitability of swallowing cortex.%目的:探讨经颅直流电刺激治疗吞咽失用症及其与大脑皮质兴奋性变化的关系.方法:采用A-B实验设计,对2例吞咽失用症患者采用经皮电刺激配合手法训练3周前后、经颅直流电刺激治疗3周后评估舌运动、口面失用及进食能力.利用脑电非线性分析观察1例吞咽失用症患者,经颅直流电刺激治疗前后安静闭眼、反射性和自主性吞咽状态下的大脑皮质电活动,记录6名健康者脑电图作为对照.结果:经皮电刺

  15. Speech Evaluation for Apraxia of Speech with Chinese%汉语言语失用患者的言语评定①

    Institute of Scientific and Technical Information of China (English)

    2013-01-01

    Objective To explore the evaluation for apraxia of speech (AOS) with Chinese. Methods 20 Chinese cases with AOS were assessed with Chinese material referred from Motor Speech Evaluation (MSE) using. Results The subtest of multiple repetitions of multisyl-labic words was the most difficult and single repetitions of monosyllabic words was the easiest for AOS patients (P<0.05). The score of the short sentences negatively correlated with both the scores of repetition ability (r=-0.865) and the fluency of speech (r=-0.614) (P<0.001). Conclusion Chinese material referred from MSE can be used for evaluation of AOS with Chinese.%  目的观察使用汉语评估材料,对汉语言语失用患者进行评估的可行性。方法对20例言语失用母语为汉语的患者参考运动言语评定(MSE)设计量表进行评估和分析。结果多音节多次复述评分最高,单音节单次复述最低(P<0.05)。汉语短句评分与言语流畅性(r=-0.614)和复述能力评分(r=-0.865)显著负相关(P<0.001)。结论通过参考MSE,可将汉语材料用于汉语言语失用患者的评估。

  16. Observation on cortical electric activation in swallowing apraxia with eletroencephalography nonlinear dynamics analysis%应用脑电非线性分析观察吞咽失用症的皮质电活动

    Institute of Scientific and Technical Information of China (English)

    袁英; 汪洁; 李英; 张兰; 王建钢; 吴东宇

    2011-01-01

    目的:应用脑电非线性分析观察吞咽失用症的大腑皮质电活动变化.方法:利用脑电非线性分析观察1例左侧额颞顶梗死后吞咽失用患者卒中后4周,安静闭眼、反射性吞咽、自主性吞咽3种状态下的大脑皮质电活动,同时进行吞咽失用的功能评价;计算脑电图非线性指数的近似熵(ApEn);记录3种状态下6名健康者的脑电图(EEG)作为正常对照.结果:脑电显示,与安静闭眼比较,正常对照组反射性吞咽时C3、C4、P3、P4、T6的ApEns值显著增高,自主性吞咽时除上述导联ApEn值增高外,F4和T5的ApEns值也显著增高.自主性吞咽时F4、T6的ApEns值比反射性吞咽增高.吞咽失用患者反射性吞咽时C3、P3的ApEns值增高,T6的ApEn值降低;自主性吞咽时,T6的ApEn值降低;自主性吞咽时的C3、P3、T5的ApEn数值比反射性吞咽时低.结论:吞咽失用患者自主性吞咽时左侧中央、顶、后颞大脑皮质的兴奋性不但没有升高,反而比安静闭眼和反射性吞咽时还低,符合吞咽失用的临床特征.应用脑电非线性分析可以观察到吞咽失用症吞咽任务相关的大脑半球的脑电变化.%Objective: To investigate the changes of cortical electric activation in the patient with swallowing apraxia by elec- troencephalography(EEG) nonlinear dynamics analysis.Method: One subject with swallowing apraxia caused by left hemisphere infarction was involved in the study. EEG was recorded under three conditions: eyes closed, reflexive swallowing and volitional swallowing. EEG nonlinear indice approximate entropy (ApEn) was calculated. The EEG of 6 healthy subjects was recorded in 3 different conditions as control.Result: Compared with eyes-closed condition, the ApEns of control group increased obviously in C3, C4, P3, P4 and T6 for reflexive swallowing task, and additional F4 and T5 for volitional swallowing task. ApEns of control group in F4 and T6 for volitional swallowing task was higher

  17. Apraxia, pantomime and the parietal cortex

    Directory of Open Access Journals (Sweden)

    E. Niessen

    2014-01-01

    In contrast to previous suggestions, current analyses show that both lesion and functional studies support the notion of a left-hemispheric fronto-(temporal-parietal network underlying pantomiming object use. Furthermore, our review demonstrates that the left parietal cortex plays a key role in pantomime-related processes. More specifically, stringently controlled fMRI-studies suggest that in addition to storing motor schemas, left parietal cortex is also involved in activating these motor schemas in the context of pantomiming object use. In addition to inherent differences between structural and functional imaging studies and consistent with the dedifferentiation hypothesis, the age difference between young healthy subjects (typically included in functional imaging studies and elderly neurological patients (typically included in structural lesion studies may well contribute to the finding of a more distributed representation of pantomiming within the motor-dominant left hemisphere in the elderly.

  18. 睁眼失用症%Apraxia of lid opening

    Institute of Scientific and Technical Information of China (English)

    魏有东; 朱丹; 谢鹏; 董为伟

    2008-01-01

    目的 探讨睁眼失用症的诊断和治疗.方法 对2例睁眼失用症患者进行分析,进一步了解睁眼失用症的诊断和治疗方法.结果 睁眼失用症表现为不能意愿睁眼、非瘫痪性的、缺乏可见的眼轮匝肌收缩.睁眼失用症主要由于不随意的提上睑肌活动抑制和睑板前的眼轮匝肌收缩.手术治疗可用睑成形术、眼轮匝肌切除术、额肌悬吊等方法.有些患者用肉毒毒素注射到睑板前眼轮匝肌有效;有些患者用抗胆碱能药、丙戊酸等药物治疗有效.结论 睁眼失用症早期诊断和治疗,有助于患者早期康复.

  19. Using Telerehabilitation to Assess Apraxia of Speech in Adults

    Science.gov (United States)

    Hill, Anne Jane; Theodoros, Deborah; Russell, Trevor; Ward, Elizabeth

    2009-01-01

    Background: Telerehabilitation is the remote delivery of rehabilitation services via information technology and telecommunication systems. There have been a number of studies that have used videoconferencing to assess speech and language skills in people with acquired neurogenic communication disorders. However, few studies have focused on cases…

  20. Apraxia of speech associated with an infarct in the precentral gyrus of the insula

    Energy Technology Data Exchange (ETDEWEB)

    Nagao, M.; Komori, T.; Isozaki, E.; Hirai, S. [Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo (Japan); Takeda, K. [Department of Neuropsychology, Tokyo Metropolitan Institute for Neuroscience, Tokyo (Japan)

    1999-05-01

    It has been postulated that the precentral gyrus in the left insula is responsible for co-ordination of speech. We report a paitent with this disturbance who showed an acute infarct limited to this region. (orig.) With 1 fig., 3 refs.

  1. Embodiment in Communication--Aphasia, Apraxia and the Possible Role of Mirroring and Imitation

    Science.gov (United States)

    Ahlsen, Elisabeth

    2008-01-01

    The role of embodiment in communication is attracting an increased interest. This interest is to some extent caused by hypotheses and findings concerning mirror neurons in macaques, that is, neurons that are activated by production as well as perception of, for example, a certain movement of action. Mirror neurons seem to provide a fairly simple…

  2. Modelling the Architecture of Phonetic Plans: Evidence from Apraxia of Speech

    Science.gov (United States)

    Ziegler, Wolfram

    2009-01-01

    In theories of spoken language production, the gestural code prescribing the movements of the speech organs is usually viewed as a linear string of holistic, encapsulated, hard-wired, phonetic plans, e.g., of the size of phonemes or syllables. Interactions between phonetic units on the surface of overt speech are commonly attributed to either the…

  3. Production Variability and Single Word Intelligibility in Aphasia and Apraxia of Speech

    Science.gov (United States)

    Haley, Katarina L.; Martin, Gwenyth

    2011-01-01

    This study was designed to estimate test-retest reliability of orthographic speech intelligibility testing in speakers with aphasia and AOS and to examine its relationship to the consistency of speaker and listener responses. Monosyllabic single word speech samples were recorded from 13 speakers with coexisting aphasia and AOS. These words were…

  4. 失用症及其相关综合征%Apraxia and Related Syndromes

    Institute of Scientific and Technical Information of China (English)

    Daniel H. Jacobs; 何玉琴; 吴宣富

    2006-01-01

    @@ 1 引言 1.1 背景 失用症是最重要但同时也是了解最少的主要行为神经病学综合征之一.与失语症不同,失用症通常被许多医学院的神经科教程忽略,甚至有资质的执业神经科医生可能也没有很好地理解失用症.尽管不受重视,但失用症是精神状态检查中最佳的定位体征之一,也能预测卒中或者痴呆患者的残疾(与失语症不同).失用症患者不会使用工具;因此,他们不太可能胜任日常生活活动.在不伴失用症时,失语症患者可以独立生活,如乘坐公车或地铁,可以过着相对正常的生活;伴有严重肢体失用的患者则很可能遗留生活不能自理.

  5. Neural Mechanism of Apraxia Agraphia%失用性失写的脑机制

    Institute of Scientific and Technical Information of China (English)

    冉光明; 陈旭; 马建苓; 潘彦谷; 胡天强

    2012-01-01

    失用性失写是指人们知道该如何书写,但实际上却不会书写或错误书写的一种现象.失用性失写涉及的神经网络包括皮层与皮层连接、皮层与皮质下连接.其中前者包括额-顶叶相关脑区的连接、顶-枕叶相关脑区的连接以及额-顶-枕相关脑区的连接,这些神经网络分别负责操作空间表征图像、回忆以及检索字母的形状等;后者包括小脑与额-顶叶的连接、左丘脑-大脑皮质的连接以及纹状体-内囊-左额顶叶的连接等,它们分别与图像输出程序、书写运动过程、操作指令的执行过程以及字素形成过程等有关.今后的研究应该集中在完善失用性失写的研究范式、深入探讨失用性失写的心理机制以及推动其康复工作的开展等方面.

  6. Research progress of apraxia%失用症的研究进展

    Institute of Scientific and Technical Information of China (English)

    曹歆轶; 郭起浩

    2009-01-01

    长期以来,失用作为阿尔茨海默病诊断的核心症状之一,相对于记忆、语言等领域,对其系统性研究较少,而失用却是与患者的日常生活能力联系最紧密的症状,直接关系到患者的生活质量。近年来,不断有新的研究对失用的认知和神经机制提出新的见解和更完善的理论模型,而目前国内的相关研究仍较少,故本文将对近年来失用的相关研究进展作一概述。

  7. 发育性语音失用症%Developmental apraxia of speech

    Institute of Scientific and Technical Information of China (English)

    章依文

    2004-01-01

    发育性语音失用症的病因涉及语音的运动计划问题,并与儿童语言发育水平有关.其表现特征主要是语音发育迟缓,将声音和音节组合成单词的困难,语音产生的不稳定性等.同时还可伴随运动的不协调,咀嚼、吞咽的困难和语言发育的问题.治疗方法主要是帮助儿童学习声音和声音组合的原则,语音运动的原则,反复多次地进行语音运动的操练.发育性语音失用症的预后受问题本身的严重程度、治疗方法和治疗时间的影响.治疗的目标是帮助儿童获得尽可能最佳的沟通技能.

  8. Results of the Sensory Profile in Children with Suspected Childhood Apraxia of Speech

    Science.gov (United States)

    Newmeyer Amy J.; Grether, Sandra; Aylward, Christa; deGrauw, Ton; Akers, Rachel; Grasha, Carol; Ishikawa, Keiko; White, Jaye

    2009-01-01

    Speech-sound disorders are common in preschool-age children, and are characterized by difficulty in the planning and production of speech sounds and their combination into words and sentences. The objective of this study was to review and compare the results of the "Sensory Profile" ([Dunn, 1999]) in children with a specific type of speech-sound…

  9. Impaired Access to Manipulation Features in Apraxia: Evidence from Eyetracking and Semantic Judgment Tasks

    Science.gov (United States)

    Myung, Jong-yoon; Blumstein, Sheila E.; Yee, Eiling; Sedivy, Julie C.; Thompson-Schill, Sharon L.; Buxbaum, Laurel J.

    2010-01-01

    Apraxic patients are known for deficits in producing and comprehending skilled movements. Two experiments tested their implicit and explicit knowledge about manipulable objects in order to examine whether such deficits accompany impairment in the conceptual representation of manipulation features. An eyetracking method was used to test implicit…

  10. Evaluation of a Combined Treatment Approach for Childhood Apraxia of Speech

    Science.gov (United States)

    Iuzzini, Jenya; Forrest, Karen

    2010-01-01

    The current study investigated the impact of a dual treatment approach that included stimulability training protocol (STP) paired with a modified core vocabulary treatment (mCVT) on the speech sounds produced by children with CAS. The combined treatment was assessed for changes in consistency and expansion of the phonetic inventories of four…

  11. The effectiveness of Speech-Music Therapy for Aphasia (SMTA) in five speakers with Apraxia of Speech and aphasia

    NARCIS (Netherlands)

    Hurkmans, Joost; Jonkers, Roel; de Bruijn, Madeleen; Boonstra, Anne M.; Hartman, Paul P.; Arendzen, Hans; Reinders - Messelink, Heelen

    2015-01-01

    Background: Several studies using musical elements in the treatment of neurological language and speech disorders have reported improvement of speech production. One such programme, Speech-Music Therapy for Aphasia (SMTA), integrates speech therapy and music therapy (MT) to treat the individual with

  12. The Economy of Fluent Speaking: Phrase-Level Reduction in a Patient with Pure Apraxia of Speech

    Science.gov (United States)

    Staiger, Anja; Ruttenauer, Anna; Ziegler, Wolfram

    2010-01-01

    The term "phrase-level reduction" refers to transformations of the phonetic forms of words in connected speech. They are a characteristic property of fluent speech in normal speakers. Phrase-level reductions contribute to a reduction of articulatory-motor effort and constitute an important aspect of speech naturalness. So far, these phenomena have…

  13. Alternating hemiparesis and orolingual apraxia as manifestations of methotrexate neurotoxicity in a paediatric case of acute lymphoblastic leukaemia.

    Science.gov (United States)

    Yap, Siew Mei; MacEneaney, Peter; Ryan, Clodagh; O'Toole, Orna

    2016-01-01

    A 15-year-old girl with a recent diagnosis of acute lymphoblastic leukaemia was admitted to hospital with pancytopaenia after having received high-dose intrathecal methotrexate 1 day prior. During the next week she had intermittent episodes of alternating hemiparesis associated with speech arrest lasting minutes to hours at a time. The episodes were not associated with altered level of consciousness or headache. MRI of the brain showed features consistent with methotrexate encephalopathy. This report discusses the typical clinical and radiological features of methotrexate neurotoxicity in addition to differential diagnoses and the proposed pathophysiological mechanisms. PMID:27113788

  14. 脑梗死致口面失用一例%Bucco-facial Apraxia in Cerebral Infarction: A Case Report

    Institute of Scientific and Technical Information of China (English)

    倪俊; 齐新; 高山

    2006-01-01

    @@ 1 病历摘要 患者,男性,52岁,右利.于2006年3月31日无明显诱因突发右手活动不灵,10余分钟后出现言语不能,双上肢屈曲,下肢伸直,头转向左侧,家属未注意眼位,无二便失禁,约10 min好转,留有轻度言语不清,无饮水呛咳,事后对肢体强直发作无记忆.外院行头颅CT显示右侧基底节区陈旧性梗死,未见新发梗死灶,给予"血塞通"、"阿司匹林"等药物治疗.4月2日,患者再次出现不能言语,上肢屈曲,下肢伸直,头及躯干扭向左侧,无肢体抽搐,无二便失禁,约10 min停止,发作后能回忆发作,留有语言不能,吞咽困难,右手指活动不灵,当日复查头颅CT同前,无新发梗死灶,治疗效果不佳遂于2006年4月4日转至我院.

  15. Disease: H00848 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available type 2 (AOA2) Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxi...a, oculomotor apraxia and choreoathetosis. AOA includes ataxia... telangiectasia (AT), ataxia telangiectasia like disorder (ATLD), ataxia oculomotor apraxia type 1 (AOA1) and ataxia... AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hype...Tassan NA Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia

  16. Brain areas impaired in oral and verbal apraxic patients.

    Directory of Open Access Journals (Sweden)

    Fariba Yadegari

    2014-06-01

    Full Text Available As both oral and verbal apraxia are related to vocal orofacial musculature, this study aimed at identifying brain regions impaired in cases with oral and verbal apraxia.In this non-experimental study, 46 left brain damaged subjects (17 females aged 23-84 years, were examined by oral and verbal apraxia tasks. Impaired and spared Broca's area, insula, and middle frontal gyrus in the left hemisphere were checked from magnetic resonance imaging and computed tomography scans utilizing Talairach Atlas. Data were analyzed using chi-square test.Insula was significantly impaired in both forms of oral and verbal apraxia and different severities and prominent forms of both apraxias (P < 0.05. Broca's area was slightly less involved than insula in two forms of apraxia.As the damage of insula was more prominent in both forms of apraxias, it seems that oral and verbal apraxia may have commonalities regarding their underlying brain lesions.

  17. A case of pathology-proven neuromyelitis optica spectrum disorder with Sjögren syndrome manifesting aphasia and apraxia due to a localized cerebral white matter lesion.

    Science.gov (United States)

    Sawada, Jun; Orimoto, Ryosuke; Misu, Tatsuro; Katayama, Takayuki; Aizawa, Hitoshi; Asanome, Asuka; Takahashi, Kae; Saito, Tsukasa; Anei, Ryogo; Kamada, Kyousuke; Miyokawa, Naoyuki; Takahashi, Toshiyuki; Fujihara, Kazuo; Hasebe, Naoyuki

    2014-09-01

    A woman with Sjögren syndrome manifesting as aphasia with a left deep cerebral white matter lesion tested positive for anti-aquaporin 4 (AQP4) antibody. Open biopsy of the lesion revealed active demyelination with edematous changes and the preservation of most axons, indicating a non-necrotic demyelinating lesion. Immunostaining for AQP4 was diffusely lost, whereas the loss of glial fibrillary acidic protein immunostaining was limited but with highly degenerated astrocytic foot processes in perivascular areas. These results suggested neuromyelitis optica spectrum disorder (NMOSD) pathology rather than Sjögren-related vasculitis. Only cerebral cortical symptoms with a cerebral white matter lesion could be observed in NMOSDs.

  18. 脑血管病纯言语不能分析%Analysis on speech apraxia in patients with cerebrovascular disease

    Institute of Scientific and Technical Information of China (English)

    董丽华; 王迎姿; 邬英全

    2001-01-01

    @@ 纯言语不能是一种特殊而少见的综合征.本组2例纯言语不能均为左额叶下部皮质损害,而且是单一较小的病灶.纯言语不能其它语言功能好,与失语不同,国外已有报道,国内尚未见报道.本文作者对纯言语不能综合征的症状及发生机理讨论如下.

  19. A Randomized Controlled Trial for Children with Childhood Apraxia of Speech Comparing Rapid Syllable Transition Treatment and the Nuffield Dyspraxia Programme-Third Edition

    Science.gov (United States)

    Murray, Elizabeth; McCabe, Patricia; Ballard, Kirrie J.

    2015-01-01

    Purpose: This randomized controlled trial compared the experimental Rapid Syllable Transition (ReST) treatment to the Nuffield Dyspraxia Programme-Third Edition (NDP3; Williams & Stephens, 2004), used widely in clinical practice in Australia and the United Kingdom. Both programs aim to improve speech motor planning/programming for children…

  20. 以失用为主要表现的胼胝体梗死%Apraxia as main presentation in corpus callosum infarction

    Institute of Scientific and Technical Information of China (English)

    陈海; 贾建平; 秦文; 马欣; 楚长彪; 黄小钦

    2006-01-01

    目的 探讨胼胝体梗死的临床表现、病因及鉴别诊断特点.方法 对2005年7月收治的1例53岁男性胼胝体梗死患者的临床表现、影像学特点、病因机制及其治疗过程进行回顾分析.结果 临床主要表现为发作性黑蒙、言语不利,既往有高血压、糖尿病、脑梗死、吸烟、饮酒史,体格检查以失用为主要表现.头部MRI检查可见左侧脑室旁、胼胝体梗死,右侧基底节、脑桥陈旧性腔隙性梗死;脑血管造影检查显示为多发性血管狭窄,其中以左侧大脑中动脉、右侧颈内动脉及基底动脉最为严重.经颈内动脉内膜剥离术及颈内动脉支架植入术治疗,临床症状缓解.结论 失用可以是胼胝体梗死的主要表现,其病因是在脑动脉粥样硬化基础上的血流动力学改变,患者预后良好.

  1. Speech therapy on apraxia of speech:1 case report%用Rosenbek 8步法治疗言语失用1例

    Institute of Scientific and Technical Information of China (English)

    卫冬洁; 李胜利

    2000-01-01

    @@ 言语失用是不能执行自主运动进行发音和言语的活动,而且这种异常是在缺乏或者不能用言语肌肉的麻痹、不协调或肌力减弱来解释的一种运动性言语障碍[1] .其病因是由于脑损伤所致,大部分患者为单侧左大脑半球的损伤伤及第三额回.言语失用常常伴随Broca失语出现,单独出现的很少.

  2. The possible neuropsycholigocal mechanism in dressing apraxia%穿衣失用症及其神经心理学机制探讨

    Institute of Scientific and Technical Information of China (English)

    李淑华; 陈海波; 龚涛; 蔡晓杰; 王新德

    2006-01-01

    目的 探讨穿衣失用症的可能机制.方法 对2例表现为穿衣失用症的患者进行MMSE、视空间功能检查以及失用症检查、小木棒测验.结果 2例穿衣失用症患者均有视空间障碍、结构性失用症、左右定向障碍以及空间翻转能力障碍.结论 穿衣失用症可能与空间判断障碍和空间翻转能力下降有关.

  3. Lexical and Phonological Development in Children with Childhood Apraxia of Speech--A Commentary on Stoel-Gammon's "Relationships between Lexical and Phonological Development in Young Children"

    Science.gov (United States)

    Velleman, Shelley L.

    2011-01-01

    Although not the focus of her article, phonological development in young children with speech sound disorders of various types is highly germane to Stoel-Gammon's discussion (this issue) for at least two primary reasons. Most obvious is that typical processes and milestones of phonological development are the standards and benchmarks against which…

  4. Experience of rehabilitation nursing on bucco-facial-apraxia after stroke%脑卒中后运动性失语的康复护理体会

    Institute of Scientific and Technical Information of China (English)

    葛芳; 王延武

    2010-01-01

    总结30例脑卒中后运动性失语的康复护理体会.认为做好针刺穴位治疗护理,加强口腔发音器官训练、口语训练,重视患者的心理护理,可提高治疗效果,提高患者的生活质量.

  5. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

    NARCIS (Netherlands)

    Smets, Katrien; Duarri, Anna; Deconinck, Tine; Ceulemans, Berten; van de Warrenburg, Bart P.; Zuechner, Stephan; Gonzalez, Michael Anthony; Schuele, Rebecca; Synofzik, Matthis; Van der Aa, Nathalie; De Jonghe, Peter; Verbeek, Dineke S.; Baets, Jonathan

    2015-01-01

    Background: Identification of the first de novo mutation in potassium voltage-gated channel, shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar ataxia in order to expand the genetic and phenotypic spectrum. Methods: Whole exome sequencing in a cerebellar ataxia

  6. Behavioral Disorders in Association with Posterior Callosal and Frontal Cerebral Infarction

    Directory of Open Access Journals (Sweden)

    J. P. Lejeune

    1993-01-01

    Full Text Available Behavioral disorders were a prominent clinical feature after the surgical treatment of an anterior communicating artery aneurysm rupture in a 44-year-old man. Callosal apraxia was associated with an alien hand. The latter remained 1 year after surgery while diagonistic apraxia disappeared after 3 months. Other callosal signs included left agraphia, tactile anomia and auditory suppression. MRI revealed posterior callosal infarction and a right frontal infarct. The association of diagonistic apraxia and alien hand is rarely reported.

  7. 两种方法对预防手部烧伤患者应用VSD装置失用的效果比较%Comparison of two methods on prevention of VSD device apraxia for hand burn patients

    Institute of Scientific and Technical Information of China (English)

    李莉; 赵宇辉; 曹志红; 刘建宇; 张学兵; 于晓牧

    2014-01-01

    目的 探讨应用VSD技术治疗手部烧伤创面中持续冲洗和间断灌洗两种不同处理方法对预防VSD装置失用的效果比较.方法 选择2009年2月-2012年2月我院收治的手部烧伤患者80例,随机分成观察组和对照组,每组40例.两组患者均使用相同手术方法及VSD技术治疗.观察组在术后安装VSD装置并接通负压后给予生理盐水接一次性输液器持续冲洗引流,按每日500 ml冲洗量调节滴速,72 h后改为间断冲洗,每日2次.对照组每日4次用注射器抽取生理盐水在各个三通连接处反复挤压灌洗,72 h后改为每日2次.全部VSD装置使用时间平均为7~10 d,负压源统一为医院中心负压.在术后7d内对2组患者VSD装置使用情况进行比较.结果 观察组在术后7d内共发生VSD装置使用不良事件9例,对照组发生32例,两组比较差异有统计学意义(P<0.05);观察组术后VSD装置使用寿命高于对照组,装置更换率低于对照组,两组差异有统计学意义(P<0.01,P<0.05).结论 应用VSD技术治疗手部烧伤创面患者中采用持续冲洗引流法对降低VSD装置使用不良事件的效果优于间断灌洗法,可降低不良事件的发生率,提高VSD装置的有效性,值得临床推广应用.

  8. 作业训练对不同类型失用现象改善的效果分析%The effect of occupational therapy(OT) on apraxia in hemiplegies after stroke

    Institute of Scientific and Technical Information of China (English)

    谭红; 张智博

    2001-01-01

    目的探讨作业疗法 (Occupation Threapy,OT)对脑卒中致失用症的治疗效果 . 方法 30例患者训练前后均经相关的失用症量表评分 , 日常生活活动 (ADL)评分采用改良 Barthel指数 (BI)进行评定 , 运用 OT的形式 , 对不同的脑卒中伴有失用症的患者分别采取相应的的训练 , 训练时间 2~ 6个月 . 结果患者的失用现象得到明显改善 , 其中结构性失用和穿衣失用有效率为 57.1% 和 50.0% , 意念性失用和意念运动性失用的有效率为 80.0% 和 81.8% ; ADL均有不同程度的提高 : 运动性失用提高 98.5% , 其余失用提高 72.0% 左右 , 结构性失用没有改变 , 统计学处理有显著性差异 ( P< 0.05) . 结论通过 OT的康复方法训练患者 , 对患者的失用现象改善和 ADL提高有效 .

  9. Developmental dyspraxia and developmental coordination disorder.

    Science.gov (United States)

    Miyahara, M; Möbs, I

    1995-12-01

    This article discusses the role developmental dyspraxia plays in developmental coordination disorder (DCD), based upon a review of literature on apraxia, developmental dyspraxia, and DCD. Apraxia and dyspraxia have often been equated with DCD. However, it is argued that apraxia and dyspraxia primarily refer to the problems of motor sequencing and selection, which not all children with DCD exhibit. The author proposes to distinguish developmental dyspraxia from DCD. Other issues discussed include the assessment, etiology, and treatment of developmental dyspraxia and DCD, and the relationship between DCD and learning disabilities. A research agenda is offered regarding future directions to overcome current limitation. PMID:8866511

  10. 病毒性脑炎后观念运动性和穿衣失用症

    Institute of Scientific and Technical Information of China (English)

    杨庆河; 吴华; 王新强

    2005-01-01

    失用症(apraxia)多见于脑血管疾病,临床上以观念运动性失用症(ideomotor apraxia)较为常见,穿衣失用症(dressing apraxia)则非常少见。病毒性脑炎后发生失用症鲜见报导,而同时出现观念运动性和穿衣失用症的病例文献中未见报告。

  11. A Clarification of Sensory Integrative Therapy and its Application to Programming with Retarded People

    Science.gov (United States)

    Clark, Florence A.; Shuer, Julie

    1978-01-01

    The article clarifies the theoretical base of sensory integrative therapy as described by J. Ayres, discusses appropriate target populations (primarily learning disabled students with apraxia or vestibular problems), and reviews research with mentally retarded persons. (Author/CL)

  12. 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...

  13. 解剖定位下头电针结合康复训练治疗脑卒中言语失用症临床研究%Clinical study of post-stroke speech apraxia treated with scalp electric acupuncture under anatomic orientation and rehabilitation training

    Institute of Scientific and Technical Information of China (English)

    江玉娟; 杨玉霞; 项蓉; 常娥; 张艳春; 左柄芳; 张茜唯

    2015-01-01

    目的:比较解剖定位下头电针结合康复训练与单纯康复训练治疗脑卒中言语障碍患者的疗效差异.方法:将60例脑卒中言语失用症患者随机分为观察组和对照组,每组30例.观察组在解剖定位下于大脑左侧优势半球Broca区行头电针治疗,配合言语康复训练;对照组单纯采用言语康复训练,共治疗4周.以“汉语失语症心理语言评价与治疗系统”的言语运动计划模块为疗效判定依据,观察两组患者数数、唱音阶、拼音字母复述、单音节词复述、双音节词复述评分,分别于入组当天、治疗4周后进行评价.结果:治疗4周后,两组数数、唱音阶、拼音字母复述、单音节词复述、双音节词复述评分均较治疗前改善(均P<0.001),且观察组均优于对照组(均P<0.05).观察组总有效率达100.0%(30/30),明显优于对照组的53.3%(16/30,P<0.001).结论:解剖定位下头电针结合言语康复训练能明显改善脑卒中患者的言语失用,从而改善患者的言语功能障碍,且疗效优于单纯康复训练.

  14. Therapeutic effect observation of Botulinum toxin type A in the treatment of blepharospasm associated with apraxia of lid opening%A型肉毒毒素治疗睑肌痉挛伴发睁眼性失用的疗效观察

    Institute of Scientific and Technical Information of China (English)

    吴逸雯; Vial C; Broussolle E; 谢晶; 陈生弟

    2006-01-01

    目的探讨A型肉毒毒素治疗睑肌痉挛伴发睁眼性失用的疗效及安全性.方法对11例睑肌痉挛伴发睁眼性失用患者行局部A型肉毒毒素注射治疗,每14周1次,共3次.观察每次注射后起效时间、疗效持续时间及不良反应,并在每次注射后第3周根据改良痉挛性斜颈量表Ⅰ(TWSTRS-Ⅰ)由固定医师对患者进行功能性评定,依据TWSTRS-Ⅱ由患者进行生活残疾自评.结果治疗后平均(3.21±1.88)d起效,疗效持续(11.55±2.11)周.3次治疗的功能改善率分别为89.09%、87.27%、88.18%;3次治疗前TWSTRS-Ⅱ评分分别为22.36±4.03、20.27±3.77及20.77±3.77,治疗3周后分别为7.55±4.44、8.00±5.25、9.27±4.98,治疗前后比较差异有极显著性(均P<0.01).主要不良反应为睑下垂、疼痛烧灼感,但程度轻,多在48 h内自行缓解.结论 A型肉毒毒素局部注射可以改善患者的痉挛症状及日常生活能力,治疗原发性睑肌痉挛伴发睁眼性失用安全有效.

  15. 语言疗法和作业疗法对脑卒中后运动性失语伴口颜面失用的作用%Speech therapy and occupational therapy on Broca aphasia with bucco-facial-apraxia following hemiplegia after stroke

    Institute of Scientific and Technical Information of China (English)

    谭红; 张智博

    2002-01-01

    目的探讨语言疗法结合作业疗法对脑卒中致运动性失语伴口颜面失用的语言康复方法.方法 55名脑卒中致运动性失语伴口颜面失用患者随机分为训练组和对照组.用前瞻法对两组进行比较分析,训练组患者进行语言康复训练的同时,用作业疗法对其进行失用症康复训练;对照组只进行语言康复训练.分别于训练前后进行测评.结果训练组口颜面失用现象改善效果优于对照组(P<0.05);语言表达能力(复述、说、出声读)训练组优于对照组(P<0.05).结论脑卒中致运动性失语伴口颜面失用患者在语言康复训练同时,运用作业疗法进行口颜面失用的康复训练,可明显改善口颜面失用,并提高语言表达能力.

  16. Dysfunctional facial emotional expression and comprehension in a patient with corticobasal degeneration.

    Science.gov (United States)

    Kluger, Benzi M; Heilman, Kenneth M

    2007-06-01

    Patients with corticobasal degeneration (CBD) frequently develop orofacial apraxia but little is known about CBD's influence on emotional facial processing. We describe a patient who developed a facial apraxia including an impaired ability to voluntarily generate facial expressions with relative sparing of spontaneous emotional faces. Her ability to interpret the facial expressions of others was also severely impaired. Despite these deficits, the patient had normal affect and normal speech, including expressive and receptive emotional prosody. As patients with corticobasal degeneration are known to manifest both orofacial apraxia and visuospatial dysfunction this patient's expressive and receptive deficits may be independent manifestations of the same underlying disease process. Alternatively, these functions may share a common neuroanatomic substrate that degenerates with CBD. PMID:17786775

  17. Toward a narrower, more pragmatic view of developmental dyspraxia.

    Science.gov (United States)

    Steinman, Kyle J; Mostofsky, Stewart H; Denckla, Martha B

    2010-01-01

    Apraxia traditionally refers to impaired ability to carry out skilled movements in the absence of fundamental sensorimotor, language, or general cognitive impairment sufficient to preclude them. The child neurology literature includes a much broader and varied usage of the term developmental dyspraxia. It has been used to describe a wide range of motor symptoms, including clumsiness and general coordination difficulties, in various developmental disorders (including autistic spectrum disorders, developmental language disorders, and perinatal stroke). We argue for the need to restrict use of the term developmental dyspraxia to describe impaired performance of skilled gestures, recognizing that, unlike acquired adult-onset apraxia, coexisting sensory and motor problems can also be present. PMID:20032517

  18. Cerebralt aspergillom hos patient med immundefekt og follikulært lymfom

    DEFF Research Database (Denmark)

    Lorentzen, Kristian; Talibi, Monica Nicole; Hansen, Per Boye

    2014-01-01

    We present a case of central nervous system aspergillosis in an immunocompromised 69-year-old male with a history of chemotherapeutic treatment for follicular lymphoma. The patient presented with aphasia, apraxia and confusion. An MRI of the central nervous system and Aspergillus antigen in the s......We present a case of central nervous system aspergillosis in an immunocompromised 69-year-old male with a history of chemotherapeutic treatment for follicular lymphoma. The patient presented with aphasia, apraxia and confusion. An MRI of the central nervous system and Aspergillus antigen...

  19. Crossed Non-Dominant Hemisphere Syndrome in a Right-Hander

    Directory of Open Access Journals (Sweden)

    M. Fujimori

    1994-01-01

    Full Text Available A right-handed patient with a large left temporo-parietal infarction manifested various non-dominant hemisphere signs. He had two left-handed children. On neurobehavioural examinations, he did not show aphasia or ideomotor apraxia, but did show hemispatial neglect, spatial agraphia, constructional apraxia, auditory and tactile extinction, anosodiaphoria and affective changes, all of which are usually observed after right hemispheric damage. We conclude that he has a reversed cerebral laterality of cognitive functions and showed crossed non-dominant hemisphere syndrome.

  20. Cortico-basal ganglionic degeneration a case report

    Directory of Open Access Journals (Sweden)

    J. Teotônio de Oliveira

    1992-06-01

    Full Text Available The case of a Brazilian patient with cortico-basal ganglionic degeneration (CBGD is presented. Since three years ago, a 71-year old male displays asymmetric ideomotor apraxia, gait apraxia, cortical sensory impairment, myoclonus, limp dystonia and rigidity. His mental status is spared. There is neither consanguinity nor similar cases in his family. The differential diagnosis of CBGD is discussed. A brief review of the literature is made stressing the clinical and pathological features of CBGD. This disease is poorly known and probably underdiagnosed. Its diagnosis can be safely made based on clinical grounds.

  1. Incidence and related factors of dysphagia in stroke patients%脑卒中患者摄食-吞咽障碍的发病及相关因素

    Institute of Scientific and Technical Information of China (English)

    李红玲; 王志红; 吴冰洁; 张彤; 张玉淼

    2003-01-01

    AIM: To investigate the incidence and related factors of dysphagia in strokepatients. METHODS: Water drinking test were applied to 100 patients whoreceived continuously by neurology and rehabilitation department after theircondition was stable. RESULTS: Dysphagia incidence of the 100 cases ofstroke patients was 33%. CONCLUSION: Analysis of related factors indi-cates that incidence of dysphagia has no relationship with sex, age, position ofthe lesion and complications, but shows correlation with status of conscious-ness, cognitive skill, character of the lesion, position, course, exercise abili-ty, daily life activities, buccofacial apraxia, speech apraxia and aphasia.

  2. Broca's faculté du langage articulé: Language or praxis?

    NARCIS (Netherlands)

    Eling, P.A.T.M.

    2016-01-01

    De Oliveira-Souza, Moll, and Tovar-Moll (this issue) historically reevaluate that Paul Broca's aphemia should be considered as a kind of apraxia rather than aphasia. I argue that such a claim is unwarranted, given the interpretation of the faculty of speech Broca derived from his predecessors, Jean-

  3. Update on blepharospasm: Report from the BEBRF International Workshop

    OpenAIRE

    Hallett, Mark; Evinger, Craig; Jankovic, Joseph; Stacy, Mark

    2008-01-01

    This review updates understanding and research on blepharospasm, a subtype of focal dystonia. Topics covered include clinical aspects, pathology, pathophysiology, animal models, dry eye, photophobia, epidemiology, genetics, and treatment. Blepharospasm should be differentiated from apraxia of eyelid opening. New insights into pathology and pathophysiology are derived from different types of imaging, including magnetic resonance studies. Physiologic studies indicate increased plasticity and tr...

  4. Impaired Finger Dexterity in Parkinson's Disease Is Associated with Praxis Function

    Science.gov (United States)

    Vanbellingen, T.; Kersten, B.; Bellion, M.; Temperli, P.; Baronti, F.; Muri, R.; Bohlhalter, S.

    2011-01-01

    A controversial concept suggests that impaired finger dexterity in Parkinson's disease may be related to limb kinetic apraxia that is not explained by elemental motor deficits such as bradykinesia. To explore the nature of dexterous difficulties, the aim of the present study was to assess the relationship of finger dexterity with ideomotor praxis…

  5. Patterns of Impairments in AOS and Mechanisms of Interaction between Phonological and Phonetic Encoding

    Science.gov (United States)

    Laganaro, Marina

    2012-01-01

    Purpose: One reason why the diagnosis of apraxia of speech (AOS) and its underlying impairment are often debated may lie in the fact that most patients do not display pure patterns of AOS. Mixed patterns are clearly acknowledged at other levels of impairment (e.g., lexical-semantic and lexical-phonological), and they have contributed to debate…

  6. Mastication Dyspraxia: A Neurodevelopmental Disorder Reflecting Disruption of the Cerebellocerebral Network Involved in Planned Actions

    OpenAIRE

    Marien, P.; Vidts, A.; Van Hecke, W.; De Surgeloose, D.; De Belder, F; Parizel, P. M.; Engelborghs, S; De Deyn, P.P.; Verhoeven, J

    2013-01-01

    This paper reports the longitudinal clinical, neurocognitive, and neuroradiological findings in an adolescent patient with nonprogressive motor and cognitive disturbances consistent with a diagnosis of developmental coordination disorder (DCD). In addition to prototypical DCD, the development of mastication was severely impaired, while no evidence of swallowing apraxia, dysphagia, sensorimotor disturbances, abnormal tone, or impaired general cognition was found. He suffered from bronchopulmon...

  7. Clinical and Molecular Investigations Into Ciliopathies

    Science.gov (United States)

    2016-08-31

    Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

  8. Joubert Syndrome - A Case Report

    Directory of Open Access Journals (Sweden)

    Bandichhode S. T.

    2013-07-01

    Full Text Available Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.

  9. A Patient with Difficulty of Object Recognition: Semantic Amnesia for Manipulable Objects

    Directory of Open Access Journals (Sweden)

    A. Yamadori

    1992-01-01

    Full Text Available We studied a patient who had recognition difficulty for manipulable objects. MRI showed a lesion in the left occipito-parietotemporal area. Differential diagnosis of agnosia, aphasia and apraxia is discussed. We believe this “object meaning amnesia” constitutes a distinct subtype of semantic amnesia.

  10. Slow mitochondrial repair of 5'-AMP renders mtDNA susceptible to damage in APTX deficient cells

    DEFF Research Database (Denmark)

    Akbari, Mansour; Sykora, Peter; Bohr, Vilhelm A

    2015-01-01

    Aborted DNA ligation events in eukaryotic cells can generate 5'-adenylated (5'-AMP) DNA termini that can be removed from DNA by aprataxin (APTX). Mutations in APTX cause an inherited human disease syndrome characterized by early-onset progressive ataxia with ocular motor apraxia (AOA1). APTX...

  11. An Analogue Assessment of Repetitive Hand Behaviours in Girls and Young Women with Rett Syndrome

    Science.gov (United States)

    Wales, L.; Charman, T.; Mount, R. H.

    2004-01-01

    Rett syndrome is a neuro-developmental disorder that almost exclusively affects females. In addition to neuro-developmental regression and loss of hand skills, apraxia, deceleration of head growth, and increasing spasticity and scoliosis, a number of behavioural features are also seen, including stereotypic hand movements, hyperventilation and…

  12. An investigation of body part as object (BPO) responses in normal and brain-damaged adults.

    Science.gov (United States)

    Duffy, R J; Duffy, J R

    1989-07-01

    A test of simple pantomime was administered to three groups of adults and comparisons were made across groups of the incidence of subjects who exhibited body part as object (BPO) responses and of the mean frequency of occurrence of BPO in each group. The three groups were left-hemisphere-damaged aphasics (N = 28), right-hemisphere-damaged (N = 24), and normal controls (N = 28). The results indicated no significant differences among groups on the BPO measures. Also, to test the strength of association between the frequency of occurrence of BPO and measures of limb apraxia and severity of aphasia for the left-hemisphere-damaged aphasic group, correlation coefficients were obtained. The correlations were low and nonsignificant. The results of this investigation do not support the common clinical assumption that the occurrence of BPO during the performance of simple pantomimes is pathognomic for left-hemisphere pathology or associated with limb apraxia.

  13. Desintegración de las praxias en la enfermedad de Alzheimer

    Directory of Open Access Journals (Sweden)

    Carlos A. Bardeci

    1972-03-01

    Full Text Available Se describe la sintomatologia clínica, los resultados de métodos auxiliares y de la punción biopsia cerebral de una paciente con enfermedad de Alzheimer. Se analizan los diversos aspectos clínicos, sosteniendose como posible determinar la individualidad clínica de la enfermedad de Alzheimer, dentro del capítulo de las demencias preseniles y su diagnóstico en vida. Las formas de apraxia presentes en esta observación confirman la correlación estrecha que existe entre los distintos niveles de su desintegración, à su relación con las perturbaciones del espacio al cual están genéticamente vinculadas; el espacio euclidiano para la apraxia constructiva, el espacio centrado en el propio cuerpo para la ideomotora y el concreto de manipulación de objetos para la ideatoria.

  14. Síndrome de gerstmann de desenvolvimento associada a neoplasia cerebelar: relato de um caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Lineu César Werneck

    1975-03-01

    Full Text Available É relatado um caso de síndrome de Gerstmann de Desenvolvimento, que apresentava acalculia, agrafía, confusão direita-esquerda, agnosia de dedos e apraxia construcional, em um menino de 7 anos. O tratamento inicial com metilfenidato determinou bons resultados no que concerne à hiperatividade, à atenção e à apraxia construcional. Durante o curso clínico, o paciente apresentou sintomatologia cerebelar, hipertensão intracraniana, tendo sido feita intervenção cirúrgica na fossa posterior, sendo excisado um meduloblastoma de cerebelo. O autor acredita que é esta a primeira descrição na literatura da concomitância da síndrome de Gerstmann de Desenvolvimento e neoplasia de fossa posterior. São feitos comentários focalizando cada um dos aspectos clínicos, fatores etiológicos e topográficos.

  15. Effectiveness of interventions to improve occupational performance of people with cognitive impairments after stroke: an evidence-based review.

    Science.gov (United States)

    Gillen, Glen; Nilsen, Dawn M; Attridge, Jessica; Banakos, Erasmia; Morgan, Marie; Winterbottom, Lauren; York, Wesley

    2015-01-01

    This evidence-based review was conducted to determine which interventions are effective in improving occupational performance after stroke. Forty-six articles met the inclusion criteria and were examined. Interventions for the following impairments were reviewed: general cognitive deficits, executive dysfunction, apraxia, memory loss, attention deficits, visual field deficits (included because of their close relationship with neglect), and unilateral neglect. Evidence is available from a variety of clinical trials to guide interventions regarding general cognition, apraxia, and neglect. The evidence regarding interventions for executive dysfunction and memory loss is limited. There is insufficient evidence regarding impairments of attention and mixed evidence regarding interventions for visual field deficits. The effective interventions have some commonalities, including being performance focused, involving strategy training, and using a compensatory as opposed to a remediation approach. The implications of the findings for practice, research, and education are discussed.

  16. Cognitive rehabilitation in a visual variant of Alzheimer's disease

    OpenAIRE

    Alves, Jorge; Rosana MAGALHÃES; Arantes, Mavilde; Cruz, Sara; Gonçalves, Óscar F.; Sampaio, Adriana

    2015-01-01

    Alzheimer's disease (AD) is commonly associated with marked memory deficits; however, nonamnestic variants have been consistently described as well. Posterior cortical atrophy (PCA) is a progressive degenerative condition in which posterior regions of the brain are predominantly affected, therefore resulting in a pattern of distinctive and marked visuospatial symptoms, such as apraxia, alexia, and spatial neglect. Despite the growing number of studies on cognitive and neural bases of the visu...

  17. Nonfluent/Agrammatic PPA with In-Vivo Cortical Amyloidosis and Pick’s Disease Pathology

    OpenAIRE

    Francesca Caso; Benno Gesierich; Maya Henry; Manu Sidhu; Amanda LaMarre; Miranda Babiak; Bruce L. Miller; Rabinovici, Gil D; Huang, Eric J.; Giuseppe Magnani; Massimo Filippi; Giancarlo Comi; Seeley, William W.; Maria Luisa Gorno-Tempini

    2013-01-01

    The role of biomarkers in predicting pathological findings in the frontotemporal dementia (FTD) clinical spectrum disorders is still being explored. We present comprehensive, prospective longitudinal data for a 66 year old, right-handed female who met current criteria for the nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA). She first presented with a 3-year history of progressive speech and language impairment mainly characterized by severe apraxia of speech. Neuropsychol...

  18. Voice disorders in children with classic galactosemia

    OpenAIRE

    Potter, Nancy L.

    2010-01-01

    Children with classic galactosemia are at risk for motor speech disorders resulting from disruptions in motor planning and programming (childhood apraxia of speech or CAS) or motor execution (dysarthria). In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with ataxic dysarthria, and 3% with mixed CAS-dysarthria. Voice disorders due to laryngeal insufficiency were common in children with dysarthria and co-occurred with CAS. Most (58%) of the children...

  19. Toward a Narrower, More Pragmatic View of Developmental Dyspraxia

    OpenAIRE

    Steinman, Kyle J.; Mostofsky, Stewart H.; Denckla, Martha B.

    2010-01-01

    Apraxia traditionally refers to impaired ability to carry out skilled movements in the absence of fundamental sensorimotor, language, or general cognitive impairment sufficient to preclude them. The child neurology literature includes a much broader and varied usage of the term developmental dyspraxia. It has been used to describe a wide range of motor symptoms, including clumsiness and general coordination difficulties, in various developmental disorders (including autistic spectrum disorder...

  20. Maurice Ravel's illness: a tragedy of lost creativity

    OpenAIRE

    Henson, R A

    1988-01-01

    Maurice Ravel had been subject to psychiatric disorder for many years when signs of organic brain disease appeared at the age of 52. Aphasia, apraxia, agraphia, and alexia became established some five years later. Musical creativity was lost. Alajouanine diagnosed cerebral atrophy with bilateral ventricular enlargement. Though Ravel's condition deteriorated progressively, generalised dementia was not apparent. He died in December 1937, after a craniotomy performed by Clovis Vincent, possibly ...

  1. A neuropsychological perspective on the link between language and praxis in modern humans

    OpenAIRE

    Roby-Brami, Agnes; Hermsdörfer, Joachim; Roy, Alice C.; Jacobs, Stéphane

    2012-01-01

    Hypotheses about the emergence of human cognitive abilities postulate strong evolutionary links between language and praxis, including the possibility that language was originally gestural. The present review considers functional and neuroanatomical links between language and praxis in brain-damaged patients with aphasia and/or apraxia. The neural systems supporting these functions are predominantly located in the left hemisphere. There are many parallels between action and language for recog...

  2. Crossed Aphasia. I: A Case-Study with Purely Deep Lesion

    Directory of Open Access Journals (Sweden)

    M. Laiacona

    1996-01-01

    Full Text Available In this paper, we describe the case of a right-handed man, MR, who after right thalamic haemorrhage presented subtranscortical aphasia. Of the disturbances generally associated with standard left hemisphere functions, the patient presented acalculia but not apraxia. Among the functions attributed to the standard right hemisphere, MR showed impairment in affective language and presented unilateral neglect and a strong position preference.

  3. Crossed Aphasia in a Dextral without “Minor” Hemisphere Signs

    Directory of Open Access Journals (Sweden)

    J. C. Marshall

    1992-01-01

    Full Text Available A case of severe aphasia after right hemisphere stroke, confirmed by CT, in an unambiguously dextral patient is reported. The patient showed no limb apraxia, and performed well on a test of “closure” (Mooney faces. Extensive testing revealed no signs of visuo-spatial neglect. We conclude that “pure” crossed aphasia can occur in the absence of symptoms normally associated with right hemisphere lesions.

  4. Síndrome de gerstmann de desenvolvimento associada a neoplasia cerebelar: relato de um caso e revisão da literatura Developmental Gerstmann syndrome associated with cerebellar neoplasm: a case report with review of litterature

    Directory of Open Access Journals (Sweden)

    Lineu César Werneck

    1975-03-01

    Full Text Available É relatado um caso de síndrome de Gerstmann de Desenvolvimento, que apresentava acalculia, agrafía, confusão direita-esquerda, agnosia de dedos e apraxia construcional, em um menino de 7 anos. O tratamento inicial com metilfenidato determinou bons resultados no que concerne à hiperatividade, à atenção e à apraxia construcional. Durante o curso clínico, o paciente apresentou sintomatologia cerebelar, hipertensão intracraniana, tendo sido feita intervenção cirúrgica na fossa posterior, sendo excisado um meduloblastoma de cerebelo. O autor acredita que é esta a primeira descrição na literatura da concomitância da síndrome de Gerstmann de Desenvolvimento e neoplasia de fossa posterior. São feitos comentários focalizando cada um dos aspectos clínicos, fatores etiológicos e topográficos.A Developmental Gerstmann syndrome in a 7 years-old-boy with hyperactivity, short attention span, acalculia, agraphia, right-left confusion, finger agnosia and constructional apraxia is reported. An initial trial with methylphenidate was done with good improvement regarding hyperactivity, attention span and constructional apraxia. In the clinical course developed a cerebellar syndrome and intracranial hypertension. Surgical exploration of the cerebellum discovered a medulloblastoma. The author believes that this is the first described association of Developmental Gerstmann syndrome and cerebellar neoplasia. The clinical findings, the etiology and the topography of the Gerstmann syndrome are discussed.

  5. Edinburgh Motor Assessment (EMAS)

    OpenAIRE

    Bak, Thomas

    2013-01-01

    Edinburgh Motor Assessment (EMAS) is a brief motor screening test, specifically designed for assessment of patients with dementia, aphasia and other cognitive disorders. It focuses, therefore, on those motor symptoms, which are known to occur in association with these diseases, such as extrapyramidal, amyotrophic, and cerebellar features as well as complex cognitive‐motor phenomena such as apraxia. EMAS has been developed by a team of neurologists and psychiatrists at the ...

  6. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

    OpenAIRE

    Chafai-Elalaoui, Siham; Chalon, Matthias; Elkhartoufi, Nadia; Kriouele, Yamna; Mansouri, Maria; Attié-Bitach, Tania; Sefiani, Abdelaziz; Baala, Lekbir

    2015-01-01

    Introduction Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically highly heterogeneous ciliopathy disorder with 23 identified causative genes. The diagnosis is based on brain imaging showing the “molar tooth sign” with cerebellar vermis agenesis. We describe a consanguineous Moroccan family with three affected siblings (18-year-old boy, 13-yea...

  7. Degenerative dementia: nosological aspects and results of single photon emission computed tomography

    International Nuclear Information System (INIS)

    Ten years ago, the diagnosis discussion of a dementia case for the old patient was limited to two pathologies: the Alzheimer illness and the Pick illness. During these last years, the frame of these primary degenerative dementia has fallen into pieces. The different diseases and the results got with single photon emission computed tomography are discussed. for example: fronto-temporal dementia, primary progressive aphasia, progressive apraxia, visio-spatial dysfunction, dementia at Lewy's bodies, or cortico-basal degeneration. (N.C.)

  8. Neural bases of childhood speech disorders: lateralization and plasticity for speech functions during development.

    Science.gov (United States)

    Liégeois, Frédérique J; Morgan, Angela T

    2012-01-01

    Current models of speech production in adults emphasize the crucial role played by the left perisylvian cortex, primary and pre-motor cortices, the basal ganglia, and the cerebellum for normal speech production. Whether similar brain-behaviour relationships and leftward cortical dominance are found in childhood remains unclear. Here we reviewed recent evidence linking motor speech disorders (apraxia of speech and dysarthria) and brain abnormalities in children and adolescents with developmental, progressive, or childhood-acquired conditions. We found no evidence that unilateral damage can result in apraxia of speech, or that left hemisphere lesions are more likely to result in dysarthria than lesion to the right. The few studies reporting on childhood apraxia of speech converged towards morphological, structural, metabolic or epileptic anomalies affecting the basal ganglia, perisylvian and rolandic cortices bilaterally. Persistent dysarthria, similarly, was commonly reported in individuals with syndromes and conditions affecting these same structures bilaterally. In conclusion, for the first time we provide evidence that longterm and severe childhood speech disorders result predominantly from bilateral disruption of the neural networks involved in speech production.

  9. PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.

    Science.gov (United States)

    Paucar, Martin; Beniaminov, Stanislav; Paslawski, Wojciech; Svenningsson, Per

    2016-10-01

    Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI). Female FMR1 premutation carriers rarely develop motor features. Dual pathology is an emerging phenomenon among FMR1 premutation carriers. Here, we describe a family affected by FMR1-related disorders in which the female index case has developed a rapidly progressive and disabling syndrome of atypical parkinsonism. This syndrome consists of early onset postural instability, echolalia, dystonia, and varying types of apraxia like early onset orobuccal apraxia and oculomotor apraxia. She has also developed supranuclear gaze palsy, increased latency of saccade initiation, and slow saccades. These features are compatible with progressive supranuclear palsy (PSP) of a corticobasal syndrome (CBS) variant. Imaging displays a marked reduction of presynaptic dopaminergic uptake and cerebrospinal fluid analysis showed reduced dopamine metabolism; however, the patient is unresponsive to levodopa. Midbrain atrophy ("hummingbird sign") and mild cerebellar atrophy were found on brain MRI. Her father was affected by a typical FXTAS presentation but also displayed dopamine deficiency along with the hummingbird sign. The mechanisms by which FMR1 premutations predispose to atypical parkinsonism and dopamine deficiency await further elucidation. PMID:27230899

  10. Neuropsychological and brain volume differences in patients with left- and right-beginning corticobasal syndrome.

    Directory of Open Access Journals (Sweden)

    Kerstin Jütten

    Full Text Available BACKGROUND: Corticobasal Syndrome (CBS is a rare neurodegenerative syndrome characterized by unilaterally beginning frontoparietal and basal ganglia atrophy. The study aimed to prove the hypothesis that there are differences in hemispheric susceptibility to disease-related changes. METHODS: Two groups of CBS patients with symptoms starting either on the left or right body side were investigated. Groups consisted of four patients each and were matched for sex, age and disease duration. Patient groups and a group of eight healthy age-matched controls were analyzed using deformation field morphometry and neuropsychological testing. To further characterize individual disease progression regarding brain atrophy and neuropsychological performance, two female, disease duration-matched patients differing in initially impaired body side were followed over six months. RESULTS: A distinct pattern of neural atrophy and neuropsychological performance was revealed for both CBS: Patients with initial right-sided impairment (r-CBS revealed atrophy predominantly in frontoparietal areas and showed, except from apraxia, no other cognitive deficits. In contrast, patients with impairment of the left body side (l-CBS revealed more widespread atrophy, extending from frontoparietal to orbitofrontal and temporal regions; and apraxia, perceptional and memory deficits could be found. A similar pattern of morphological and neuropsychological differences was found for the individual disease progression in l-CBS and r-CBS single cases. CONCLUSIONS: For similar durations of disease, volumetric grey matter loss related to CBS pathology appeared earlier and progressed faster in l-CBS than in r-CBS. Cognitive impairment in r-CBS was characterized by apraxia, and additional memory and perceptional deficits for l-CBS.

  11. Crossed aphasia with jargonagraphia due to right putaminal hemorrhage

    International Nuclear Information System (INIS)

    The patient was a 47 year-old right handed male. He had been dextral since infancy with no familial background of sinistrality. On June 10, 1982 he suddenly developed hemiplegia, hemisensory disturbance on the left side and aphasia. On the same day he fell into a coma. CT scan revealed right putaminal hemorrhage. The patient was operated on to evacuate the hematoma. On October 25 he was admitted to our hospital, when left spastic hemiplegia, sensory deficit and left Babinski sign were noted. Neuropsychological examination showed fluent spontaneous speech but no dysprosodia. The result of Standard language test of aphasia were fairly good except for naming low frequency words. Repetition and auditory comprehension were normal. Dyslexia was not observed. Dyscaliculia was also observed. Idiomotor apraxia, ideational apraxia and dressing apraxia were not observed. This case is characterized by 1) fluent aphasia without agrammatism, and 2) jargonagraphia. Fluent aphasia in a right-hander is said to be caused by a left postrolandic lesion. Lesions judged by computed tomography were located from the right putamen to the corona radiata. Single photon emission CT (SPECT) was performed with the 133Xe inhalation method. SPECT revealed a low blood flow area in the basal ganglia, a branch of the right anterior cerebral and of the middle cerebral artery. Furthermore the low blood flow area extended to the post-central gyrus of the right cerebrum. No obvious low blood flow area was seen in the left hemisphere. The most difficult problem for clinical diagnosis of crossed aphasia is whether the lesion is localized solely in the right hemisphere or not. SPECT is very helpful for detecting lesions not revealed by CT. (J.P.N.)

  12. Evaluación comparativa de la función práxica en pacientes con enfermedad de Alzheimer versus pacientes con enfermedad de Parkinson

    OpenAIRE

    Chong Espino, Yamisel

    2009-01-01

    Tanto la enfermedad de Alzheimer como la enfermedad de Parkinson sonenfermedades neurológicas en las que se ha reportado la presencia de apraxia. El objetivo de este trabajo es estudiar, analizar y comparar las diferentes características en la ejecuciónde tareas práxicas gestuales de miembros superiores en pacientes con enfermedad de Alzheimer con demencia leve y pacientes con enfermedad de Parkinson con demencia leve y cotejarlos con los rendimientos obtenidos por sujetos sin afectación cogn...

  13. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

    Science.gov (United States)

    Battini, Roberta; Chilosi, Anna; Mei, Davide; Casarano, Manuela; Alessandrì, M Grazia; Leuzzi, Vincenzo; Ferretti, Giovanni; Tosetti, Michela; Bianchi, M Cristina; Cioni, Giovanni

    2007-08-01

    We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alteration of speech and expressive-language function, associated with mental retardation, that differed from CT1 patients described to date. In particular, he exhibited a developmental apraxia of speech (DAS) with motor planning and execution deficit, while receptive language was consistent with his mental age. PMID:17603797

  14. A fatal encephalopathy in chronic haemodialysis patients.

    Science.gov (United States)

    Burks, J S; Alfrey, A C; Huddlestone, J; Norenberg, M D; Lewin, E

    1976-04-10

    A distinct neurological syndrome in twelve chronic haemodialysis patients is described. This syndrome is currently the leading cause of death in one Denver dialysis unit. The hallmarks of this syndrome are progressive speech difficulties, mental changes, and a markedly abnormal electroencephalogram which may be present months before the clinical signs appear. Additional clinical features including seizures, myoclonus, asterixis, apraxia, focal neurological signs, and psychiatric symptoms may also be observed. Neuropathological changes are slight and non-specific. The aetiology of this syndrome is unknown but the clinical and pathological features suggest a toxic/metabolic disorder. To date, this disorder has been refractory to several therapeutic measures.

  15. About the neurolinguistics of the implicatures: abstract of a study

    Directory of Open Access Journals (Sweden)

    Juliano Luís Fontanari

    1989-06-01

    Full Text Available Taking into account recent data on linguistics of production and comprehension in aphasia, a protocol was executed including the several types of implicatures. The protocol was applied to 90 subjects classified according to the localization of cerebral lesions, as shown by CT. Results are discussed in report to clinical manifestations of brain lesions, as aphasia, apraxia, agnosia, and intelligence and pragmatics disturbances. Discussion supports the impression that there is a mechanism that correlates extra-linguistics contexts with the 'said' at the right hemisphere.

  16. Degenerative dementia: nosological aspects and results of single photon emission computed tomography; Les demences degeneratives: aspects nosologiques et resultats de la tomographie d'emission monophotonique

    Energy Technology Data Exchange (ETDEWEB)

    Dubois, B.; Habert, M.O. [Hopital Pitie-Salpetriere, 75 - Paris (France)

    1999-12-01

    Ten years ago, the diagnosis discussion of a dementia case for the old patient was limited to two pathologies: the Alzheimer illness and the Pick illness. During these last years, the frame of these primary degenerative dementia has fallen into pieces. The different diseases and the results got with single photon emission computed tomography are discussed. for example: fronto-temporal dementia, primary progressive aphasia, progressive apraxia, visio-spatial dysfunction, dementia at Lewy's bodies, or cortico-basal degeneration. (N.C.)

  17. Logopenic and nonfluent variants of primary progressive aphasia are differentiated by acoustic measures of speech production.

    Science.gov (United States)

    Ballard, Kirrie J; Savage, Sharon; Leyton, Cristian E; Vogel, Adam P; Hornberger, Michael; Hodges, John R

    2014-01-01

    Differentiation of logopenic (lvPPA) and nonfluent/agrammatic (nfvPPA) variants of Primary Progressive Aphasia is important yet remains challenging since it hinges on expert based evaluation of speech and language production. In this study acoustic measures of speech in conjunction with voxel-based morphometry were used to determine the success of the measures as an adjunct to diagnosis and to explore the neural basis of apraxia of speech in nfvPPA. Forty-one patients (21 lvPPA, 20 nfvPPA) were recruited from a consecutive sample with suspected frontotemporal dementia. Patients were diagnosed using the current gold-standard of expert perceptual judgment, based on presence/absence of particular speech features during speaking tasks. Seventeen healthy age-matched adults served as controls. MRI scans were available for 11 control and 37 PPA cases; 23 of the PPA cases underwent amyloid ligand PET imaging. Measures, corresponding to perceptual features of apraxia of speech, were periods of silence during reading and relative vowel duration and intensity in polysyllable word repetition. Discriminant function analyses revealed that a measure of relative vowel duration differentiated nfvPPA cases from both control and lvPPA cases (r(2) = 0.47) with 88% agreement with expert judgment of presence of apraxia of speech in nfvPPA cases. VBM analysis showed that relative vowel duration covaried with grey matter intensity in areas critical for speech motor planning and programming: precentral gyrus, supplementary motor area and inferior frontal gyrus bilaterally, only affected in the nfvPPA group. This bilateral involvement of frontal speech networks in nfvPPA potentially affects access to compensatory mechanisms involving right hemisphere homologues. Measures of silences during reading also discriminated the PPA and control groups, but did not increase predictive accuracy. Findings suggest that a measure of relative vowel duration from of a polysyllable word repetition task

  18. A Critical Review of Alzheimer's Disease Researches in the Past Decade%Alzheimer病近十年研究述评

    Institute of Scientific and Technical Information of China (English)

    高定国; 高尚仁; 郭丽

    2001-01-01

    Alzheimer病(Alzheimer'S disease-AD)也称Alzheimer型痴呆(dementia of Alzheimer’s type-DAT),是一种伴有神经病理学和神经化学特性的原发性退行性大脑认知功能疾病。主要表现为记忆力下降(不能学习或回忆)以及其它认知功能障碍:如失语(aphasia)、失动(apraxia)、失知(agnosia)

  19. Bilaterally impaired hand dexterity with posterior cortical atrophy

    Directory of Open Access Journals (Sweden)

    Nages Nagaratnam, MD, FRACP, FRCPA, FACC

    2015-12-01

    Full Text Available A 79-year- old man presented with bilaterally impaired hand movements pertaining to handling of objects although hand movements without the use of objects were preserved, findings consistent with tactile apraxia. His hand and finger movements were slow and clumsy. He had an isolated optic ataxia, a component of Balint's syndrome. The computed tomography scan showed enlargement of the posterior horns of the lateral ventricles. He had recurrent falls probably owing to visual attentional deficits, which may be present in patients with posterior cortical atrophy. The findings can be deemed to fall within the posterior cortical atrophy spectrum. The underlying mechanisms are discussed.

  20. Developmental Foreign Accent Syndrome: report of a new case

    Directory of Open Access Journals (Sweden)

    Stefanie eKeulen

    2016-03-01

    Full Text Available This paper presents the case of a 17-year-old right-handed Belgian boy with developmental FAS and comorbid developmental apraxia of speech (DAS. Extensive neuropsychological and neurolinguistic investigations demonstrated a normal IQ but impaired planning (visuo-constructional dyspraxia. A Tc-99m-ECD SPECT revealed a significant hypoperfusion in the prefrontal and medial frontal regions, as well as in the lateral temporal regions. Hypoperfusion in the right cerebellum almost reached significance. It is hypothesized that these clinical findings support the view that FAS and DAS are related phenomena following impairment of the cerebro-cerebellar network.

  1. Developmental Foreign Accent Syndrome: Report of a New Case.

    Science.gov (United States)

    Keulen, Stefanie; Mariën, Peter; Wackenier, Peggy; Jonkers, Roel; Bastiaanse, Roelien; Verhoeven, Jo

    2016-01-01

    This paper presents the case of a 17-year-old right-handed Belgian boy with developmental FAS and comorbid developmental apraxia of speech (DAS). Extensive neuropsychological and neurolinguistic investigations demonstrated a normal IQ but impaired planning (visuo-constructional dyspraxia). A Tc-99m-ECD SPECT revealed a significant hypoperfusion in the prefrontal and medial frontal regions, as well as in the lateral temporal regions. Hypoperfusion in the right cerebellum almost reached significance. It is hypothesized that these clinical findings support the view that FAS and DAS are related phenomena following impairment of the cerebro-cerebellar network. PMID:27014011

  2. Here, there and everywhere: higher visual function and the dorsal visual stream.

    Science.gov (United States)

    Cooper, Sarah Anne; O'Sullivan, Michael

    2016-06-01

    The dorsal visual stream, often referred to as the 'where' stream, represents the pathway taken by visual information from the primary visual cortex to the posterior parietal lobe and onwards. It partners the ventral or 'what' stream, the subject of a previous review and largely a temporal-based system. Here, we consider the dorsal stream disorders of perception (simultanagnosia, akinetopsia) along with their consequences on action (eg, optic ataxia and oculomotor apraxia, along with Balint's syndrome). The role of the dorsal stream in blindsight and hemispatial neglect is also considered. PMID:26786007

  3. A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation.

    Science.gov (United States)

    Gore, Ethan; Manley, Andrew; Dees, Daniel; Appleby, Brian S; Lerner, Alan J

    2016-06-01

    Neuroimaging and genomic analysis greatly aid in the identification of young-onset dementia antemortem. We present the case of a 33-year-old female with a 2-year rapid decline to dementia and immobility marked by personality change, executive deficits including compulsions, attention deficit, apraxia, Parkinsonism, and pyramidal signs. She had unique and dramatic calcifications and confluent white matter changes on imaging and was found to have a novel mutation in the colony stimulating factor 1 receptor gene causing adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Here, we review ALSP and briefly discuss differential diagnoses. PMID:27092868

  4. Balint′s Syndrome As a Manifestation of Solitary Right Occipital Lobe Metastasis

    Directory of Open Access Journals (Sweden)

    Sarat Chandra P

    1998-01-01

    Full Text Available Balint′s syndrome is a rare clinical condition characterized by a triad of occulomotor apraxia (psychic paralysis of gaze, optic ataxia and visual inattention and usually follows bilateral parieto-occipital lesions. We report this syndrome occurring in a patient with a solitary metastasis in right occipital lobe. To the best of our knowledge it has not been previously described in English literature. Pressure over the opposite occipital lobe due to mass effect, diaschisis and extension of edema along the corpus callosum involvement may contribute to this exceptional phenomenon.

  5. Bilateral maculopathy in a patient with ataxia telangiectasia.

    Science.gov (United States)

    Gioia, Lauren V; Bonsall, Dean; Moffett, Kathryn; Leys, Monique

    2016-02-01

    We report a case of toxoplasmosis with bilateral maculopathy in a 7-year-old boy diagnosed with ataxia telangiectasia (AT) at age 6. AT manifests as ataxia, apraxia, telangiectasia, and dysarthria. Common ophthalmologic findings in AT include fine conjunctival telangiectasia. Patients also suffer from recurrent sinopulmonary infections; however, serious opportunistic infection is rarely diagnosed. At 8 years of age he developed disseminated Toxoplasma gondii (toxoplasmosis) infection and meningoencephalitis. This ophthalmologic finding and the subsequent toxoplasmosis meningoencephalitis have not been previously reported in AT. PMID:26917084

  6. Desintegración de las praxias en la enfermedad de Alzheimer Disintegration of praxias in Alzheimer's disease: a case report

    Directory of Open Access Journals (Sweden)

    Carlos A. Bardeci

    1972-03-01

    Full Text Available Se describe la sintomatologia clínica, los resultados de métodos auxiliares y de la punción biopsia cerebral de una paciente con enfermedad de Alzheimer. Se analizan los diversos aspectos clínicos, sosteniendose como posible determinar la individualidad clínica de la enfermedad de Alzheimer, dentro del capítulo de las demencias preseniles y su diagnóstico en vida. Las formas de apraxia presentes en esta observación confirman la correlación estrecha que existe entre los distintos niveles de su desintegración, à su relación con las perturbaciones del espacio al cual están genéticamente vinculadas; el espacio euclidiano para la apraxia constructiva, el espacio centrado en el propio cuerpo para la ideomotora y el concreto de manipulación de objetos para la ideatoria.The case of a patient with Alzheimer's disease is reported and some considerations about the clinical individuality of the disease and the characteristics shown by the disintegration of behavior are made. In the study, the following methods were used: neurological examinations focused especially on movement disturbances, ecoencephalography, electroencephalography, cerebral cintilography, right carotid arteriography and cerebral biopsy. The clinical aspects of the disease, just as the correlation of the data obtained by the auxiliary methods allow the formulation of the diagnosis, confirmed by right frontal cerebral puncture. The patient's clinical context shows the basic syndromes: 1 frontal with fixative amnesia, lack of interest, deterioration of the consciousness of situation and of the intellectual level, bilateral apprehension reflex; 2 parieto-temporo-occipital with indifference for the left hemibody, for the visual hemifield and for the space of this side. In addition, there arises a serious complication of motor behavior (praxias with the disintegration of all functional levels: instrumental (melokinesic apraxia, space linked to the body (ideomotor, Euclidean space

  7. Joubert syndrome: large clinical variability and a unique neuroimaging aspect

    Energy Technology Data Exchange (ETDEWEB)

    Leao, Emilia Katiane Embirucu; Lima, Marcilia Martyn; Kok, Fernando; Parizotto, Juliana [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Neurology; Maia Junior, Otacilio de Oliveira [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Ophthalmology

    2010-04-15

    Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g. pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnoea and hyperpnoea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. (author)

  8. Cortical Lewy Body Dementia

    Directory of Open Access Journals (Sweden)

    W. R. G. Gibb

    1990-01-01

    Full Text Available In cortical Lewy body dementia the distribution of Lewy bodies in the nervous system follows that of Parkinson's disease, except for their greater profusion in the cerebral cortex. The cortical tangles and plaques of Alzheimer pathology are often present, the likely explanation being that Alzheimer pathology provokes dementia in many patients. Pure cortical Lewy body dementia without Alzheimer pathology is uncommon. The age of onset reflects that of Parkinson's disease, and clinical features, though not diagnostic, include aphasias, apraxias, agnosias, paranoid delusions and visual hallucinations. Parkinsonism may present before or after the dementia, and survival duration is approximately half that seen in Parkinson's disease without dementia.

  9. [Overview and assessment of cognitive function in interpreting postoperative cognitive dysfunction].

    Science.gov (United States)

    Miura, Rina; Hattori, Hideyuki

    2014-11-01

    The most important point for evaluation of the post-operative cognitive dysfunction is that we understand "cognitive function". First we described the definition of the "cognitive function" and second, outlined each function (dysfunction) and introduced the main assessment methods from the view point of neuropsychology. Cognitive function (dysfunction) described in this paper includes consciousness (confusional state, disturbance of consciousness), generalized attention (disorder of generalized attention), memory (amnesia), orientation (disorientation), executive function (dysexecutive syndrome), social cognition (social cognitive impairment), language (aphasia), cognition (agnosia), behavior (apraxia), directed attention (unilateral spatial neglect), and construction (constructional disorder).

  10. Graphesthesia: a test of graphemic movement representations or tactile imagery?

    Science.gov (United States)

    Drago, V; Foster, P S; Edward, D; Wargovich, B; Heilman, K M

    2010-01-01

    Patients with corticobasal degeneration (CBG) often demonstrate agraphesthesia in the same hand they demonstrate apraxia. To recognize letters written in their hand subjects can develop a spatial representation and access graphemic representations. Alternatively, people can use movement working memory and match movement patterns to stored letter movement representations. To learn the method normally used without vision, normal subjects (12) had letters written on their palm either in the normal manner or in a reverse direction. If letters written on the hand are recognized by their spatial features (as when visually reading) direction should not influence letter recognition, but if letters written on the hand are recognized by movement patterns, then in the reverse condition recognition should be impaired. When letters were written normally there were no differences in error between the tactile and visual modality. When letters were written in reverse, however, normal subjects made more errors in the tactile than visual condition. Normally, people identify letters written on their hand by covertly copying (mirroring) the examiner and then access letter movement representations. This might explain why patients with CBG often have agraphesthesia associated with apraxia. PMID:19796443

  11. [Case of callosal disconnection syndrome with a chief complaint of right-hand disability, despite presence of left-hand diagonistic dyspraxia].

    Science.gov (United States)

    Okamoto, Yoko; Saida, Hisako; Yamamoto, Toru

    2009-04-01

    e report the case of 48-year-old right-handed male patient with an infarction affecting most part of the body and the splenium of the left half of the corpus callosum. Neuropsychological examination revealed typical signs of callosal disconnection including left-sided apraxia, diagonistic dyspraxia, left-sided agraphia, left-hand tactile anomia, left hemialexia, and right-sided constructional disability. Moreover, he complained of impairment in activities involving the right hand disability and agraphia. He could not stop behaving with his right hand when he had a vague idea. For example, he involuntarily picked up a tea bottle with his right hand when he had a desire to drink, although the action was not appropriate to that occasion. The imitation and utilization behavior did not imply this case, because his right hand behaviors were not exaggerated in response to external stimuli, such as the gestures of the examiner or the subjects in front of the patient. Unexpectedly, he complained about impairment of the activity of his right hand and was unaware of left hand apraxia or diagonistic dyspraxia; this trend continued for 6 months, at the time of this writing. We argue that the patient may have been subconsciouly aware of the symptoms of his left hand but had not verbalized them. PMID:19378819

  12. Drawing objects from memory in aphasia.

    Science.gov (United States)

    Gainotti, G; Silveri, M C; Villa, G; Caltagirone, C

    1983-09-01

    The ability of aphasic patients to draw from memory objects with a characteristic shape has been investigated. Their capacity to reproduce the form of real objects was studied by showing them for a short time line drawings of simple objects. When the patient had analysed and recognized the figure, the model was hidden from view and the subject was asked to draw the same object from memory. This Drawing from Memory task was administered to 54 aphasics, 67 patients with right hemisphere lesions, 44 nonaphasic left brain-damaged patients and 23 normal controls. The influence of visuoconstructive disabilities was controlled by administering to the same patients a standard test for constructional apraxia (copying 10 geometrical figures). The severity and clinical form of the aphasia and the presence of semantic-lexical impairment at the receptive level were also examined in the aphasic patients. The following results were obtained. (1) Aphasic patients scored significantly less well than the control groups on the Drawing from Memory task and the intergroup differences became greater when the scores from the test for constructional apraxia were included by an analysis of covariance. (2) No significant correlation was detected between the severity and clinical form of the aphasia and the scores obtained on the Drawing from Memory task. (3) There was a significant correlation between impaired drawing from memory and disruption at the semantic-lexical level of language integration. PMID:6640272

  13. Praxial disorders in focal lesions of cerebral hemispheres

    Directory of Open Access Journals (Sweden)

    Jorge Murillo Duran

    2007-11-01

    Full Text Available The purpose of this work is to analyze paraxial difficulties i.e, functional disorders in movementresulting from cerebral tissue lesions. In accordance with the literature on the subject, the following definition, the following definition of apraxia has been accepted: “Apraxia is inability in properly executing kinetic tasks without impairment or loss of motor or sensory functions or ataxia with would condition such inability”. “Proper execution” used in this definition concerns not only the effect of the action but also means of its realization. “Kinetic tasks” signify all aspects of motor activity defined by instructions, irrespective of the type of instruction (verbal or gestures, and regardless of whether it required −in the final effect− imitating the movement of the investigator or whether they were performed independently. The methodology has been based in the principle on Luria’s works.Deliberations on praxial disorders were based on investigation results embracing 90 patients with focal cerebral lesions. In fifty cases, changes were localized in the left cerebral hemisphere, in forty cases−in the right hemisphere. The summing up the results concerning a global comparison between cerebral hemispheres, indicate the following regularities: Results achieved made it possible to form the opinion that not all of the generally accepted tests investigating praxia in persons with cerebral lesions are solved faultlessly by healthy individuals; thus, a faulty execution should not always be regarded as a sign of pathological functioning of the cerebral tissue as a result of lesion.

  14. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

    Directory of Open Access Journals (Sweden)

    Zamba-Papanicolaou Eleni

    2008-04-01

    Full Text Available Abstract Background Senataxin (chromosome 9q34 was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA, termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2 and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (AFP. Here, we report a novel Senataxin mutation in a Cypriot ARCA family. Methods We studied several Cypriot autosomal recessive cerebellar ataxia (ARCA families for linkage to known ARCA gene loci. We linked one family (909 to the SETX locus on chromosome 9q34 and screened the proband for mutations by direct sequencing. Results Sequence analysis revealed a novel c.5308_5311delGAGA mutation in exon 11 of the SETX gene. The mutation has not been detected in 204 control chromosomes from the Cypriot population, the remaining Cypriot ARCA families and 37 Cypriot sporadic cerebellar ataxia patients. Conclusion We identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with ARCA with cerebellar atrophy and raised AFP.

  15. Alteraciones en el reconocimiento de gestos por daño a nivel del praxicon de entrada de acciones. (Agnosia de las pantomimas

    Directory of Open Access Journals (Sweden)

    Daniel G. Politis

    2002-01-01

    Full Text Available Clásicamente el estudio de la apraxia estuvo limitado a los problemas en la ejecución gestual (Geschwind, 1965; Liepmann, 1908 [c.f. De Renzi, 1990]; Luria, 1977. Si bien se presentaron varias hipótesis sobre la capacidad de reconocer gestos y su alteración por lesiones cerebrales, González Rothi, Ochipa y Heilman (1991,1997 en su modelo cognitivo de las apraxias de los miembros incluyen la capacidad de reconocer gestos y proponen que la misma es mediada por un sub-componente específico, el praxicón de entrada de acciones. La alteración de este produce un cuadro caracterizado por un déficit en el reconocimiento de gestos que denominaron Agnosia de las Pantomimas. En este trabajo se presenta el estudio de un paciente con dificultades en el reconocimiento de gestos y sin dificultades en la producción gesrual lo que constituye una disociación, que reafirma la hipótesis planteada por González Rothi y colaboradores (1991, 1997 y se discute el valor de estos hallazgos en relación con el modelo antes mencionado.

  16. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Pedroso, José Luiz; Rocha, Clarissa R R; Macedo-Souza, Lucia I; De Mario, Vitor; Marques, Wilson; Barsottini, Orlando G P; Bulle Oliveira, Acary S; Menck, Carlos F M; Kok, Fernando

    2015-12-01

    PNKP (polynucleotide kinase 3'-phosphatase, OMIM #605610) product is involved in the repair of strand breaks and base damage in the DNA molecule mainly caused by radical oxygen species. Deleterious variants affecting this gene have been previously associated with microcephaly, epilepsy, and developmental delay.(1) According to a previous report, homozygous loss-of-function substitution in PNKP was associated with cerebellar atrophy, neuropathy, microcephaly, epilepsy, and intellectual disability.(2) Recently, whole-exome sequencing (WES) performed in a cohort of Portuguese families with ataxia with oculomotor apraxia (AOA) disclosed pathogenic variants in PNKP in 11 individuals. Other clinical features in that study included neuropathy, dystonia, cognitive impairment, decreased vibration sense, pyramidal signs, mild elevation in α-fetoprotein, and low levels of albumin. This condition was named AOA type 4 (OMIM #616267), as the phenotype of AOA has been previously associated with 3 other genes: APTX, SETX, and PIK3R5.(3) Altogether, these reports demonstrate the great phenotypic diversity associated with PNKP mutations. In this article, we further enlarge this variability by demonstrating that early-onset axonal sensory-motor neuropathy (or axonal Charcot-Marie-Tooth (CMT) disease) followed years later by ataxia without oculomotor apraxia can be caused by deleterious variants in PNKP. Full consent was obtained from the patient and his parents for this publication. This study was approved by institutional ethics committees. PMID:27066567

  17. Clinical Characteristics and Lesions Responsible for Swallowing Hesitation After Acute Cerebral Infarction.

    Science.gov (United States)

    Saito, Tsukasa; Hayashi, Keisuke; Nakazawa, Hajime; Ota, Tetsuo

    2016-08-01

    Some stroke patients with a unilateral lesion demonstrate acute dysphagia characterized by a markedly prolonged swallowing time, making us think they are reluctant to swallow. In order to clarify the clinical characteristics and causative lesions of delayed swallowing, we conducted a retrospective analysis of 20 right-handed patients without a history of swallowing dysfunction who underwent videofluorography on suspicion of dysphagia after a first ischemic stroke. The oral processing time plus the postfaucial aggregation time required to swallow jelly for patients classified as having delayed swallowing was over 10 s. The time required for swallowing jelly was significantly longer than that without the hesitation (median value, 24.1 vs. 8.9 s, P apraxia, swallowing hesitation with a rippling tongue movement seems to be a representative characteristic of apraxia. The patients with swallowing hesitation with a temporary stasis of the tongue in this study tended to have broad lesions in the frontal lobe, especially in the middle frontal gyrus, which is thought to be involved in higher cognition. PMID:27277890

  18. 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.

  19. Contextual bottom-up and implicit top-down modulation of anarchic hand syndrome: A single-case report and a review of the literature.

    Science.gov (United States)

    Moro, Valentina; Pernigo, Simone; Scandola, Michele; Mainente, Maria; Avesani, Renato; Aglioti, Salvatore Maria

    2015-11-01

    Anarchic hand syndrome (AHS) is a rare neurological condition characterized by seemingly purposeful, goal-directed hand movements which the person afflicted by the syndrome is not, however, in control of. By extensively examining a patient with AHS we provide novel neuropsychological and lesion mapping data that shed new light on the possibility of modulating specific symptoms associated with AHS, in particular unilateral apraxia and magnetic apraxia. Moreover, we compared lesion mapping data with an in depth analysis of previous studies in order to explore the neural network responsible for the complex symptomatology associated with this syndrome. We found that non-primarily motor variables (e.g. the nature of the object to be grasped and integration of visuo-spatial feedback in action) play an important role in determining AHS symptomatology. Moreover, we found that lesions involving various different parts of the motor control network (the corpus callosum, the anterior cingulate cortex and the supplementary motor area, the parietal areas and thalamus) are closely linked to partially differing AHS symptoms. The comparison of our data with those reported in previous studies indicate that AHS is a multifaceted and complex syndrome in which the influence of non-primarily motor, emotional and higher-order components may be largely underestimated. PMID:26455805

  20. [A case of carbon monoxide poisoning by explosion of coal mine presenting as visual agnosia: re-evaluation after 40 years].

    Science.gov (United States)

    Takaiwa, Akiko; Yamashita, Kenichiro; Nomura, Takuo; Shida, Kenshiro; Taniwaki, Takayuki

    2005-11-01

    We re-evaluated a case of carbon monoxide poisoning presenting as visual agnosia who had been injured by explosion of Miike-Mikawa coal mine 40 years ago. In an early stage, his main neuropsychological symptoms were visual agnosia, severe anterograde amnesia, alexia, agraphia, constructional apraxia, left hemispatial neglect and psychic paralysis of gaze, in addition to pyramidal and extra pyramidal signs. At the time of re-evaluation after 40 years, he still showed visual agnosia associated with agraphia and constructional apraxia. Concerning visual agnosia, recognition of the real object was preserved, while recognition of object photographs and picture was impaired. Thus, this case was considered to have picture agnosia as he could not recognize the object by pictorial cues on the second dimensional space. MRI examination revealed low signal intensity lesions and cortical atrophy in the bilateral parieto-occipital lobes on T1-weighted images. Therefore, the bilateral parieto-occipital lesions are likely to be responsible for his picture agnosia.

  1. A case of carbon monoxide poisoning by explosion of coal mine presenting as visual agnosia: re-evaluation after 40 years

    Energy Technology Data Exchange (ETDEWEB)

    Takaiwa, A.; Yamashita, K.; Nomura, T.; Shida, K.; Taniwaki, T. [Kyushu University, Fukuoka (Japan). Department of Neurology, Graduate School of Medical Science

    2005-11-15

    We re-evaluated a case of carbon monoxide poisoning presenting as visual agnosia who had been injured by explosion of Miike-Mikawa coal mine 40 years ago. In an early stage, his main neuropsychological symptoms were visual agnosia, severe anterograde amnesia, alexia, agraphia, constructional apraxia, left hemispatial neglect and psychic paralysis of gaze, in addition to pyramidal and extra pyramidal signs. At the time of re-evaluation after 40 years, he still showed visual agnosia associated with agraphia and constructional apraxia. Concerning visual agnosia, recognition of the real object was preserved, while recognition of object photographs and picture was impaired. Thus, this case was considered to have picture agnosia as he could not recognize the object by pictorial cues on the second dimensional space. MRI examination revealed low signal intensity lesions and cortical atrophy in the bilateral parieto-occipital lobes on T1-weighted images. Therefore, the bilateral parieto-occipital lesions are likely to be responsible for his picture agnosia.

  2. Graphesthesia: a test of graphemic movement representations or tactile imagery?

    Science.gov (United States)

    Drago, V; Foster, P S; Edward, D; Wargovich, B; Heilman, K M

    2010-01-01

    Patients with corticobasal degeneration (CBG) often demonstrate agraphesthesia in the same hand they demonstrate apraxia. To recognize letters written in their hand subjects can develop a spatial representation and access graphemic representations. Alternatively, people can use movement working memory and match movement patterns to stored letter movement representations. To learn the method normally used without vision, normal subjects (12) had letters written on their palm either in the normal manner or in a reverse direction. If letters written on the hand are recognized by their spatial features (as when visually reading) direction should not influence letter recognition, but if letters written on the hand are recognized by movement patterns, then in the reverse condition recognition should be impaired. When letters were written normally there were no differences in error between the tactile and visual modality. When letters were written in reverse, however, normal subjects made more errors in the tactile than visual condition. Normally, people identify letters written on their hand by covertly copying (mirroring) the examiner and then access letter movement representations. This might explain why patients with CBG often have agraphesthesia associated with apraxia.

  3. Broca's Aphemia: The Tortuous Story of a Nonaphasic Nonparalytic Disorder of Speech.

    Science.gov (United States)

    de Oliveira-Souza, Ricardo; Moll, Jorge; Tovar-Moll, Fernanda

    2016-01-01

    Broca coined the neologism "aphemia" to describe a syndrome consisting of a loss of the ability to speak without impairment of language and paralysis of the faciolingual territories in actions unrelated to speech, such as protruding the tongue or pursing the lips. Upon examining the brains of patients with aphemia, Broca concluded that the minimum possible lesion responsible for aphemia localized to the posterior left inferior frontal gyrus and lower portion of the middle frontal gyrus. A review of Broca's writings led us to conclude that (a) Broca localized speech, not language, to the left hemisphere, (b) Broca's aphemia is a form of apraxia, (c) Broca's aphemia is not, therefore, a terminological forerunner of aphasia, and (d) Broca was an outspoken equipotentialist concerning the cerebral localization of language. Broca's claim about the role of the left hemisphere in the organization of speech places him as the legitimate forebear of the two most outstanding achievements of Liepmann's work, namely, the concepts of apraxia and of a left hemisphere specialization for action. PMID:26452688

  4. Clinical Characteristics and Lesions Responsible for Swallowing Hesitation After Acute Cerebral Infarction.

    Science.gov (United States)

    Saito, Tsukasa; Hayashi, Keisuke; Nakazawa, Hajime; Ota, Tetsuo

    2016-08-01

    Some stroke patients with a unilateral lesion demonstrate acute dysphagia characterized by a markedly prolonged swallowing time, making us think they are reluctant to swallow. In order to clarify the clinical characteristics and causative lesions of delayed swallowing, we conducted a retrospective analysis of 20 right-handed patients without a history of swallowing dysfunction who underwent videofluorography on suspicion of dysphagia after a first ischemic stroke. The oral processing time plus the postfaucial aggregation time required to swallow jelly for patients classified as having delayed swallowing was over 10 s. The time required for swallowing jelly was significantly longer than that without the hesitation (median value, 24.1 vs. 8.9 s, P swallowing to swallow thickened water was largely over 5 s and significantly longer than that of patients without swallowing hesitation (median value, 10.2 vs. 3.3 s, P Swallowing hesitation caused by acute unilateral infarction could be separated into two different patterns. Because four of the five patients with a rippling tongue movement in the swallowing hesitation pattern had a lesion in the left primary motor cortex, which induces some kinds of apraxia, swallowing hesitation with a rippling tongue movement seems to be a representative characteristic of apraxia. The patients with swallowing hesitation with a temporary stasis of the tongue in this study tended to have broad lesions in the frontal lobe, especially in the middle frontal gyrus, which is thought to be involved in higher cognition.

  5. Mutation analysis of C9orf72 in patients with corticobasal syndrome.

    Science.gov (United States)

    Anor, Cassandra J; Xi, Zhengrui; Zhang, Ming; Moreno, Danielle; Sato, Christine; Rogaeva, Ekaterina; Tartaglia, Maria Carmela

    2015-10-01

    Corticobasal syndrome (CBS) is a neurodegenerative disease characterized by progressive asymmetrical rigidity and apraxia, cortical sensory loss, myoclonus, dystonia, and cognitive impairment. CBS is usually sporadic and associated with tau pathology but there are reports of TDP-43 pathology. We screened 39 CBS cases to determine if any of the cases could be explained by a G4C2-repeat expansion in a noncoding region of C9orf72 gene, the most common genetic cause of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. One patient with CBS had a large (>50 repeats) expansion in C9orf72. Our case features a 63-year-old right-handed woman who developed mild apathy 9 years before presentation, which progressed to include behavioral symptoms, oral stereotypies, significant language impairment, parkinsonism and apraxia. A magnetic resonance imaging acquired at age 60 years, that is, 6 years after disease onset revealed significant asymmetric left > right frontotemporal atrophy, including orbitofrontal and parietal areas. Her father developed a behavioral syndrome and died at an early age. This case highlights the importance of genetic screening for C9orf72 in patients with CBS. PMID:26166205

  6. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.

    Science.gov (United States)

    Ure, Kerstin; Lu, Hui; Wang, Wei; Ito-Ishida, Aya; Wu, Zhenyu; He, Ling-Jie; Sztainberg, Yehezkel; Chen, Wu; Tang, Jianrong; Zoghbi, Huda Y

    2016-01-01

    The postnatal neurodevelopmental disorder Rett syndrome, caused by mutations in MECP2, produces a diverse array of symptoms, including loss of language, motor, and social skills and the development of hand stereotypies, anxiety, tremor, ataxia, respiratory dysrhythmias, and seizures. Surprisingly, despite the diversity of these features, we have found that deleting Mecp2 only from GABAergic inhibitory neurons in mice replicates most of this phenotype. Here we show that genetically restoring Mecp2 expression only in GABAergic neurons of male Mecp2 null mice enhanced inhibitory signaling, extended lifespan, and rescued ataxia, apraxia, and social abnormalities but did not rescue tremor or anxiety. Female Mecp2(+/-) mice showed a less dramatic but still substantial rescue. These findings highlight the critical regulatory role of GABAergic neurons in certain behaviors and suggest that modulating the excitatory/inhibitory balance through GABAergic neurons could prove a viable therapeutic option in Rett syndrome. PMID:27328321

  7. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.

    Science.gov (United States)

    Ure, Kerstin; Lu, Hui; Wang, Wei; Ito-Ishida, Aya; Wu, Zhenyu; He, Ling-Jie; Sztainberg, Yehezkel; Chen, Wu; Tang, Jianrong; Zoghbi, Huda Y

    2016-06-21

    The postnatal neurodevelopmental disorder Rett syndrome, caused by mutations in MECP2, produces a diverse array of symptoms, including loss of language, motor, and social skills and the development of hand stereotypies, anxiety, tremor, ataxia, respiratory dysrhythmias, and seizures. Surprisingly, despite the diversity of these features, we have found that deleting Mecp2 only from GABAergic inhibitory neurons in mice replicates most of this phenotype. Here we show that genetically restoring Mecp2 expression only in GABAergic neurons of male Mecp2 null mice enhanced inhibitory signaling, extended lifespan, and rescued ataxia, apraxia, and social abnormalities but did not rescue tremor or anxiety. Female Mecp2(+/-) mice showed a less dramatic but still substantial rescue. These findings highlight the critical regulatory role of GABAergic neurons in certain behaviors and suggest that modulating the excitatory/inhibitory balance through GABAergic neurons could prove a viable therapeutic option in Rett syndrome.

  8. A “Pseudo-cavernoma” – an encapsulated Hematoma of the Choroid Plexus

    Science.gov (United States)

    Dey, Mahua; Turner, Michael S.; Pytel, Peter; Awad, Issam A.

    2011-01-01

    We present the first report of an intraventricular encapsulated hematoma, mimicking cavernous malformation on imaging and gross lesion appearance. A 47-year-old female on anticoagulation therapy for atrial fibrillation presented with left upper extremity apraxia, neglect, and mild gait imbalance. Her brain CT scan and MRI revealed multilobulated lesions involving the choroid plexus in the atria of both lateral ventricles. The intraoperative appearance was that of encapsulated mass, with blood clots at different stages of liquefaction and organization, all consistent with the gross appearance of a cavernous malformation. However, histopathologic examination demonstrated hematoma with components at different ages, and normal vessel infiltration without any hint of cavernous malformation histology, or underlying neoplasia. Encapsulated hematoma should be considered in the differential diagnosis of hemorrhagic intraventricular masses. PMID:21435884

  9. A "pseudo-cavernoma" - an encapsulated hematoma of the choroid plexus.

    Science.gov (United States)

    Dey, Mahua; Turner, Michael S; Pytel, Peter; Awad, Issam A

    2011-06-01

    We present the first report of an intraventricular encapsulated hematoma, mimicking cavernous malformation on imaging and gross lesion appearance. A 47-year-old female on anticoagulation therapy for atrial fibrillation presented with left upper extremity apraxia, neglect, and mild gait imbalance. Her brain CT scan and MRI revealed multilobulated lesions involving the choroid plexus in the atria of both lateral ventricles. The intraoperative appearance was that of encapsulated mass, with blood clots at different stages of liquefaction and organization, all consistent with the gross appearance of a cavernous malformation. However, histopathologic examination demonstrated hematoma with components at different ages, and normal vessel infiltration without any hint of cavernous malformation histology, or underlying neoplasia. Encapsulated hematoma should be considered in the differential diagnosis of hemorrhagic intraventricular masses.

  10. Fenótipo Rett em paciente com cariótipo XXY: relato de caso

    OpenAIRE

    SCHWARTZMAN JOSÉ SALOMÃO; SOUZA ANGELA MARIA COSTA DE; FAIWICHOW GUIDO; HERCOWITZ LUIZ HENRIQUE

    1998-01-01

    Relatamos o caso de um menino com cariótipo XXY que apresenta desordem neurológica progressiva com início por volta dos 11 meses de idade, com estagnação do desenvolvimento seguida de regressão. A criança apresenta, ainda, movimentos estereotipados de mãos, apraxia manual e microcefalia. Investigações não constataram presença de qualquer condição neurológica ou sistêmica definida que pudesse ser apontada como possível etiologia para o quadro descrito. Trata-se de menino com alterações fenotíp...

  11. Examination of the presynaptic dopaminergic system using positron emission tomography in a family with autosomal dominant parkinsonism and dementia due to pallido-ponto-nigral degeneration (PPNO)

    International Nuclear Information System (INIS)

    We report positron emission tomography (PET) examinations of presynaptic nigrostriatal dopaminergic function in a large family with an autosomal dominant neuro-degenerative disorder characterized pathologically by pallido-ponto-nigral degeneration, and clinically by parkinsonism, dystonia, paresis of conjugate gaze, apraxia of eyelid opening and closing, pyramidal tract dysfunction, and urinary incontinence. Dopaminergic function was studied and quantified with [18F[-L-6-fluorodopa (6 FD) and PET in five affected patients, 13 individuals at-risk, and 15 similarly aged controls. The rate constant Ki (mL/striatum/min) for 6 FD was decreased in all patients. None of the individuals at risk had reduced 6 FD uptake. In fact, three of them had increased values. Repeat scans have revealed a fall in 6 FD uptake in two out of the three with initially high constants. This may reflect a preclinical stage of involvement, but longer observation is necessary. (orig.)

  12. What is developmental dyspraxia?

    Science.gov (United States)

    Dewey, D

    1995-12-01

    The idea of developmental dyspraxia has been discussed in the research literature for almost 100 years. However, there continues to be a lack of consensus regarding both the definition and description of this disorder. This paper presents a neuropsychologically based operational definition of developmental dyspraxia that emphasizes that developmental dyspraxia is a disorder of gesture. Research that has investigated the development of praxis is discussed. Further, different types of gestural disorders displayed by children and different mechanisms that underlie developmental dyspraxia are compared to and contrasted with adult acquired apraxia. The impact of perceptual-motor, language, and cognitive impairments on children's gestural development and the possible associations between these developmental disorders and developmental dyspraxia are also examined. Also, the relationship among limb, orofacial, and verbal dyspraxia is discussed. Finally, problems that exist in the neuropsychological assessment of developmental dyspraxia are discussed and recommendations concerning what should be included in such an assessment are presented. PMID:8838385

  13. Speech recovery device

    Energy Technology Data Exchange (ETDEWEB)

    Frankle, Christen M.

    2004-04-20

    There is provided an apparatus and method for assisting speech recovery in people with inability to speak due to aphasia, apraxia or another condition with similar effect. A hollow, rigid, thin-walled tube with semi-circular or semi-elliptical cut out shapes at each open end is positioned such that one end mates with the throat/voice box area of the neck of the assistor and the other end mates with the throat/voice box area of the assisted. The speaking person (assistor) makes sounds that produce standing wave vibrations at the same frequency in the vocal cords of the assisted person. Driving the assisted person's vocal cords with the assisted person being able to hear the correct tone enables the assisted person to speak by simply amplifying the vibration of membranes in their throat.

  14. Speech recovery device

    Energy Technology Data Exchange (ETDEWEB)

    Frankle, Christen M.

    2000-10-19

    There is provided an apparatus and method for assisting speech recovery in people with inability to speak due to aphasia, apraxia or another condition with similar effect. A hollow, rigid, thin-walled tube with semi-circular or semi-elliptical cut out shapes at each open end is positioned such that one end mates with the throat/voice box area of the neck of the assistor and the other end mates with the throat/voice box area of the assisted. The speaking person (assistor) makes sounds that produce standing wave vibrations at the same frequency in the vocal cords of the assisted person. Driving the assisted person's vocal cords with the assisted person being able to hear the correct tone enables the assisted person to speak by simply amplifying the vibration of membranes in their throat.

  15. A schizophrenic patient with cerebral infarctions after hemorrhagic shock

    Directory of Open Access Journals (Sweden)

    Youichi Yanagawa

    2013-01-01

    Full Text Available We herein report the fourth case of cerebral infarction, concomitant with hemorrhagic shock, in English literature. A 33-year-old male, who had been diagnosed with schizophrenia and given a prescription for Olanzapine, was discovered with multiple self-inflicted bleeding cuts on his wrist. On arrival, he was in hemorrhagic shock without verbal responsiveness, but his vital signs were normalized following infusion of Lactate Ringer′s solution. The neuroradiological studies revealed multiple cerebral ischemic lesions without any vascular abnormality. He was diagnosed with speech apraxia, motor aphasia, and dysgraphia, due to multiple cerebral infarctions. As there was no obvious causative factor with regard to the occurrence of cerebral infarction in the patient, the hypoperfusion due to hemorrhagic shock, and the thromboembolic tendency due to Olanzapine, might have acted together to lead to the patient′s cerebral ischemia.

  16. Performance of the fixed pressure valve with antisiphon device SPHERA® in the treatment of normal pressure hydrocephalus and prevention of overdrainage

    Directory of Open Access Journals (Sweden)

    Renan M. Pereira

    2015-01-01

    Full Text Available ABSTRACT Normal pressure hydrocephalus (NPH is characterized by the triad of gait apraxia, dementia and urinary incontinence associated with ventriculomegaly and normal pressure of cerebrospinal fluid. Treatment is accomplished through the implantation of a ventricular shunt (VPS, however some complications are still frequent, like overdrainage due to siphon effect. This study analyses the performance of a valve with anti-siphon device (SPHERA® in the treatment of patients with NPH and compares it with another group of patients with NPH who underwent the same procedure without anti-siphon mechanism (PS Medical® valve. 30 patients were consecutively enrolled in two groups with 15 patients each and followed clinically and radiologically for 1 year. Patients submitted to VPS with SPHERA® valve had the same clinical improvement as patients submitted to VPS with PS Medical®. However, complications and symptomatology due to overdrainage were significantly lower in SPHERA® group, suggesting it as a safe tool to treat NPH.

  17. Performance of the fixed pressure valve with antisiphon device SPHERA® in the treatment of normal pressure hydrocephalus and prevention of overdrainage.

    Science.gov (United States)

    Pereira, Renan M; Suguimoto, Mariane T; Oliveira, Matheus F; Tornai, Juliana B; Amaral, Ricardo A; Teixeira, Manoel Jacobsen; Pinto, Fernando Campos Gomes

    2016-01-01

    Normal pressure hydrocephalus (NPH) is characterized by the triad of gait apraxia, dementia and urinary incontinence associated with ventriculomegaly and normal pressure of cerebrospinal fluid. Treatment is accomplished through the implantation of a ventricular shunt (VPS), however some complications are still frequent, like overdrainage due to siphon effect. This study analyses the performance of a valve with anti-siphon device (SPHERA®) in the treatment of patients with NPH and compares it with another group of patients with NPH who underwent the same procedure without anti-siphon mechanism (PS Medical® valve). 30 patients were consecutively enrolled in two groups with 15 patients each and followed clinically and radiologically for 1 year. Patients submitted to VPS with SPHERA® valve had the same clinical improvement as patients submitted to VPS with PS Medical®. However, complications and symptomatology due to overdrainage were significantly lower in SPHERA® group, suggesting it as a safe tool to treat NPH.

  18. Diagnosis and Treatment of Intracranial Cavernous Hemangioma: a Report of 86 Cases

    Institute of Scientific and Technical Information of China (English)

    Liyue Zhao; Bosheng Dou; Yushan Yang

    2008-01-01

    OBJECTIVE To summarize and analyze the clinical manifestations features of imaging diagnosis, and therapeutic efficacy of surgical treatment for intracranial cavernous hemangioma (CH).METHODS Data from 86 cases with intracranial CH from the Department of Neurosurgery of Tianjin Huanhu Hospital, Tianjin,China, during a period from 2000 to 2007, were retrospectively analyzed, and pertinent literature cited.RESULTS Epilepsy, headache, dizziness, sensory disability and limb-kinetic apraxia were the most commonly seen clinical manifestations of the intracranial CH cases. MRI was one of the preferred ways to diagnose CH. All 86 patients were treated with microsurgery, among which neuronavigator-guided surgery .was conducted in 16, a second surgical procedure was performed in 3 due to a postoperative intracranial hematoma, and death occurred in 1. All the other 85 patients had a good prognosis.CONCLUSION MRI was the most sensitive diagnostic means for intracranial CH. Microsurgery was the main method to treat intracranial CH.

  19. 单味中药促智作用机制的研究进展%The Research Progress of a Single Traditional Chinese Medicine's Mechanism About Nootropic Effect

    Institute of Scientific and Technical Information of China (English)

    王佳君; 周德生

    2011-01-01

    痴呆是多由髓减脑消或痰瘀痹阻脑络,神机失用而引起的无意识障碍状态下,以呆傻愚笨、智力低下、善忘等为主要临床表现的一种脑功能减退性疾病.已研究发现很多中药对痴呆有很好的促智作用.%Dementia is a kind of disease of cerebral functional subsindence.Due to phlegm - stasis obstructing the network vessels of brain and decreased brain -marrow, the vital activity is apraxia, which cause the uncounscjousness disorder, the main manifestation of dementia include expressionless, fool, daffy, mental retardation, amnesia.Now we have found many herbs which are very useful to nootropic effect in different ways.

  20. Study of brain activation during the complicated hand motor task (Luria's fist-edge-palm test) by functional MRI

    Energy Technology Data Exchange (ETDEWEB)

    Umetsu, Atsushi; Takahashi, Shoki; Higano, Shuichi [Tohoku Univ., Sendai, Miyagi (Japan). Graduate School of Medicine] (and others)

    2000-11-01

    The fist-edge-palm test (FEP) was introduced by Luria to detect dynamic apraxia. Luria believed its impairment was closely related to contralateral frontal lobe damage. However, this presumption still remains controversial. In this study, we applied this test to normal subjects and confirmed the activation in the whole brain. The subjects were instructed to perform the FEP, fist-palm, palm-edge, and fist-edge tasks with their right hand, and control state with no voluntary movement during the scan. The contralateral precentral, postcentral, premotor, supplementary motor, and parietal association areas and bilateral cerebellum were activated commonly in each task. The percentage of change in signal intensity was greater in the contralateral premotor and parietal association areas and bilateral cerebellum during the FEP than the other tasks. We suspected that these areas played an important role for executing the FEP with right hand. (author)

  1. Joubert syndrome in a neonate: case report with literature review.

    Science.gov (United States)

    Bin Dahman, Haifa A; Bin Mubaireek, Abdul-Hakeem M; Alhaddad, Zain H

    2016-01-01

    Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newborn with mild hypotonia, abnormal pattern of respiration, abnormal eye movements and molar tooth sign on brain CT scan. Joubert syndrome is an uncommon inherited condition and delayed diagnosis is usually related to its variable, non-specific presentation. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counseling and proper rehabilitation. PMID:27651554

  2. Senior Loken Syndrome

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    F Najafi

    2011-02-01

    Full Text Available The etiology of ESRD under the age of 20 almost is the inherited kidney disease or congenital disorders of urinary tract. NPHP/ medullary cystic disease includes a group of tubulo- genetic kidney disorders. NPHP is the cause of 15-20% ESRD in children and adolescents. The extra renal manifestations include: oculomotor Apraxia(Cogan syndrome, mental retardation, retinitis pigmentosa, (Senior- Loken syndrome liver fibrosis and skeletal disorders. Recently, on the basis of genetics and type of the protein product of these mutations, NPHP is divided to 6 types. The presented case is a 17 year old boy with end stage renal disease that he has been managed with hemodialysis. As the patient has polyuria and disturbance in vision from childhood and on physical examination he had retinitis pigmentosa and horizontal nystagmus with a history of chronic kidney disease in his 12 years old sister, and familial marriage between his parents, we suggest NPHP4 for the patient.

  3. Sword-Like Trauma to the Shoulder with Open Head-Splitting Fracture of the Head

    Directory of Open Access Journals (Sweden)

    Andreas Panagopoulos

    2016-01-01

    Full Text Available Head-splitting fractures occur as a result of violent compression of the head against the glenoid; the head splits and the tuberosities may remain attached to the fragments or split and separate. Isolated humeral head-splitting fractures are rare injuries. Favorable results with osteosynthesis can be difficult to achieve because of the very proximal location of the head fracture and associated poor vascularity. We present a case of a 67-year-old man who sustained a severe, sword-like trauma to his left shoulder after a road traffic accident with associated isolated open Gustilo-Anderson IIIA humeral head-splitting fracture. Bony union was achieved with minimal internal fixation but the clinical outcome deteriorated due to accompanying axillary nerve apraxia. To our knowledge, this type of sword-like injury with associated humeral head-split fracture has not previously been reported.

  4. Performance of the fixed pressure valve with antisiphon device SPHERA® in the treatment of normal pressure hydrocephalus and prevention of overdrainage.

    Science.gov (United States)

    Pereira, Renan M; Suguimoto, Mariane T; Oliveira, Matheus F; Tornai, Juliana B; Amaral, Ricardo A; Teixeira, Manoel Jacobsen; Pinto, Fernando Campos Gomes

    2016-01-01

    Normal pressure hydrocephalus (NPH) is characterized by the triad of gait apraxia, dementia and urinary incontinence associated with ventriculomegaly and normal pressure of cerebrospinal fluid. Treatment is accomplished through the implantation of a ventricular shunt (VPS), however some complications are still frequent, like overdrainage due to siphon effect. This study analyses the performance of a valve with anti-siphon device (SPHERA®) in the treatment of patients with NPH and compares it with another group of patients with NPH who underwent the same procedure without anti-siphon mechanism (PS Medical® valve). 30 patients were consecutively enrolled in two groups with 15 patients each and followed clinically and radiologically for 1 year. Patients submitted to VPS with SPHERA® valve had the same clinical improvement as patients submitted to VPS with PS Medical®. However, complications and symptomatology due to overdrainage were significantly lower in SPHERA® group, suggesting it as a safe tool to treat NPH. PMID:26602193

  5. No double-dissociation between optic ataxia and visual agnosia: multiple sub-streams for multiple visuo-manual integrations.

    Science.gov (United States)

    Pisella, L; Binkofski, F; Lasek, K; Toni, I; Rossetti, Y

    2006-01-01

    with VA is restricted to immediate goal-directed guidance, they exhibit deficits for delayed or pantomimed actions. 3. A ventro-dorsal pathway (involving the more ventral part of the parietal lobe and the pre-motor and pre-frontal areas): for complex planning and programming relying on high representational levels with a more bilateral organisation or an hemispheric lateralisation--with mirror apraxia, limb apraxia and spatial neglect as representatives. Mirror apraxia is a deficit that affects both hands after unilateral inferior parietal lesion with the patients reaching systematically and repeatedly toward the virtual image in the mirror. Limb apraxia is localized on a more advanced conceptual level of object-related actions and results from deficient integrative, computational and "working memory" capacities of the left inferior parietal lobule. A component of spatial working memory has recently been revealed also in spatial neglect consecutive to lesion involving the network of the right inferior parietal lobule and the right frontal areas. We conclude by pointing to the differential temporal constraints and integrative capabilities of these parallel visuo-motor pathways as keys to interpret the neuropsychological deficits.

  6. Visuospatial deficits with preserved reading ability in a patient with posterior cortical atrophy.

    Science.gov (United States)

    Mendez, M F

    2001-09-01

    Visuospatial deficits are characteristic of posterior cortical atrophy (PCA). A 58 year old woman had progressive dressing apraxia and environmental disorientation but continued to read voraciously. Positron emission tomography revealed hypometabolism of the occipitoparietal regions bilaterally, consistent with PCA. The symptoms suggested predominant dysfunction of the dorsal ("where") stream with abnormalities in visual localization and visuospatial integration; however, the patient also had a less pronounced apperceptive object agnosia. Further analysis of her preserved reading ability was performed. Familiar irregular words were read rapidly, but nonsense words were read slowly in a letter-by-letter fashion. She had a word superiority effect for embedded words and words with obscured letters but had difficulty reading stylized script or printing in unusual fonts. These findings suggested a dissociation between reading routes. Although the patient had a phonological dyslexia, her visuospatial processing was sufficient for access to preserved visual word forms for efficient lexical reading. PMID:11721864

  7. Self-mutilation in neurodegeneration with brain iron accumulation

    Directory of Open Access Journals (Sweden)

    Sadanandavalli Retnaswami Chandra

    2015-01-01

    Full Text Available Neurodegeneration with brain iron accumulation (NBIA is the term applied to a heterogeneous group of disorders resulting in iron deposition in the basal ganglia. Well-known phenotypic features are progressive regression with extra pyramidal involvement and a variable course. A 10-year-old child born to consanguineous parents presented with progressive generalized opisthotonic dystonia, retrocollis, oromandibular dyskinesias, apraxia for swallowing, optic atrophy and severe self-mutilation of lips. MR imaging showed brain iron accumulation. Other causes of self-mutilation were excluded. Early infantile onset, ophisthotonic dystonia with oromandibular dyskinesias and characteristic MR images are suggestive of NBIA. There is only one case reported in the literature of self-mutilation in this condition.

  8. Sword-Like Trauma to the Shoulder with Open Head-Splitting Fracture of the Head.

    Science.gov (United States)

    Panagopoulos, Andreas; Pantazis, Konstantinos; Iliopoulos, Ilias; Seferlis, Ioannis; Kokkalis, Zinon

    2016-01-01

    Head-splitting fractures occur as a result of violent compression of the head against the glenoid; the head splits and the tuberosities may remain attached to the fragments or split and separate. Isolated humeral head-splitting fractures are rare injuries. Favorable results with osteosynthesis can be difficult to achieve because of the very proximal location of the head fracture and associated poor vascularity. We present a case of a 67-year-old man who sustained a severe, sword-like trauma to his left shoulder after a road traffic accident with associated isolated open Gustilo-Anderson IIIA humeral head-splitting fracture. Bony union was achieved with minimal internal fixation but the clinical outcome deteriorated due to accompanying axillary nerve apraxia. To our knowledge, this type of sword-like injury with associated humeral head-split fracture has not previously been reported. PMID:27478665

  9. Enterovirus causes rapidly progressive dementia in a 28-year-old immunosuppressed woman.

    Science.gov (United States)

    Mantri, Sneha; Shah, Binit B

    2016-08-01

    Enterovirus in the nervous system can present with protean manifestations, including polio-like paralysis, movement disorders, and seizures. This is a report of a single case of a rapidly progressive dementing illness in a young woman with common variable immunodeficiency (CVID). Over the course of several months, she developed profound aphasia, apraxia, and cerebellar signs. She underwent brain biopsy which was suggestive of toxoplasmosis; despite an adequate course of treatment, she continued to decline and ultimately died. Autopsy and PCR testing revealed diffuse coxsackie B3 infiltration in the meninges and brain parenchyma. To our knowledge, this is the first description of enterovirus causing a dementing illness in a young immunosuppressed adult. We highlight the need for a broad differential diagnosis, especially for immunocompromised individuals, who may present in an atypical fashion. PMID:26727905

  10. Clinical, FDG and amyloid PET imaging in posterior cortical atrophy.

    Science.gov (United States)

    Singh, Tarun D; Josephs, Keith A; Machulda, Mary M; Drubach, Daniel A; Apostolova, Liana G; Lowe, Val J; Whitwell, Jennifer L

    2015-06-01

    The purpose of this study was to identify the clinical, [(18)F]-fluorodeoxyglucose positron emission tomography (FDG-PET) and amyloid-PET findings in a large cohort of posterior cortical atrophy (PCA) patients, to examine the neural correlates of the classic features of PCA, and to better understand the features associated with early PCA. We prospectively recruited 25 patients who presented to the Mayo Clinic between March 2013 and August 2014 and met diagnostic criteria for PCA. All patients underwent a standardized set of tests and amyloid imaging with [(11)C] Pittsburg compound B (PiB). Seventeen (68 %) underwent FDG-PET scanning. We divided the cohort at the median disease duration of 4 years in order to assess clinical and FDG-PET correlates of early PCA (n = 13). The most common clinical features were simultanagnosia (92 %), dysgraphia (68 %), poly-mini-myoclonus (64 %) and oculomotor apraxia (56.5 %). On FDG-PET, hypometabolism was observed bilaterally in the lateral and medial parietal and occipital lobes. Simultanagnosia was associated with hypometabolism in the right occipital lobe and posterior cingulum, optic ataxia with hypometabolism in left occipital lobe, and oculomotor apraxia with hypometabolism in the left parietal lobe and posterior cingulate gyrus. All 25 PCA patients were amyloid positive. Simultanagnosia was the only feature present in 85 % of early PCA patients. The syndrome of PCA is associated with posterior hemisphere hypometabolism and with amyloid deposition. Many of the classic features of PCA show associated focal, but not widespread, areas of involvement of these posterior hemispheric regions. Simultanagnosia appears to be the most common and hence sensitive feature of early PCA. PMID:25862483

  11. Effect of rehabilitation on a patient suffering from a tuberculous brain abscess with Gerstmann's syndrome: case report

    Directory of Open Access Journals (Sweden)

    Kuo CL

    2012-05-01

    Full Text Available Chih-Lan Kuo1, Sui-Foon Lo1,2, Chun-Lin Liu3, Chia-Hui Chou4, Li-Wei Chou1,2,5¹Department of Physical Medicine and Rehabilitation, China Medical University Hospital, Taichung, Taiwan; ²School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; 3Department of Neurosurgery, China Medical University Hospital, Taichung, Taiwan; 4Department of Infectious disease, China Medical University Hospital, Taichung, Taiwan; 5Department of Physical Therapy, China Medical University, Taichung, TaiwanAbstract: There are few reports in the literature of tuberculous brain abscess. Tuberculous brain abscess usually occurs in an immunocompromised host. Almost all previously documented cases have involved acquired immune deficiency syndrome. We encountered a 53-year-old right-handed immunocompetent male who was initially suspected of having a cerebrovascular accident due to acute-onset right hemiparesis and paresthesia. A tentative diagnosis of brain tumor versus brain abscess was made on imaging studies. The patient was finally diagnosed with a tuberculous brain abscess based upon deterioration on imaging and a positive tuberculosis culture. The tuberculous brain abscess was located in the left parietal lobe, which resulted in Gerstmann's syndrome and right-sided apraxia. Stereotactic surgery was performed. He was also given antituberculosis chemotherapy and comprehensive rehabilitation. Considerable improvement was noted after rehabilitation. The patient even returned to a normal life and work. Our case demonstrates that an aggressive intensive inpatient rehabilitation program combined with stereotactic surgery and effective antituberculosis therapy play an important role in improving the outcome for patients with tuberculous brain abscess, Gerstmann's syndrome, and right-sided apraxia.Keywords: tuberculous brain abscess, Gerstmann's syndrome, rehabilitation

  12. Autosomal recessive cerebellar ataxias

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    Palau Francesc

    2006-11-01

    Full Text Available Abstract Autosomal recessive cerebellar ataxias (ARCA are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2–4/100,000, ataxia-telangiectasia (1–2.5/100,000 and early onset cerebellar ataxia with retained tendon reflexes (1/100,000. Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, α-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED, aprataxin in ataxia with oculomotor apraxia (AOA1, and senataxin in ataxia with oculomotor apraxia (AOA2. Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning, electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia.

  13. Función práxica y ganglios basales: contribuciones de los núcleos grises al movimiento voluntario.

    Directory of Open Access Journals (Sweden)

    Jorge Emiro Restrepo

    2010-07-01

    Full Text Available El texto tiene como objetivo revisar y analizar la evidencia teórica y empírica disponible sobre las aportaciones subcorticales a la Función práxica, y explorar las posibles relaciones teóricas que se presenten entre la Función práxica, los Ganglios Basales y el caso particular de las apraxias. Para tal fin, se procederá de la siguiente manera: primero, se presentarán razonadamente las estructuras que componen los Ganglios basales y se plantearán especificadamente los circuitos neuroanatómicos que se establecen entre sus núcleos y las demás regiones cerebrales. Segundo, se expondrá la evidencia empírica que demuestra la relevancia de los Ganglios basales en el sistema del movimiento voluntario y se presentarán las consecuencias funcionales que se presentan en caso de la alteración de estas estructuras. Y en tercera y última instancia se revelarán y analizarán los casos en los que la Función Motora Voluntaria se desorganiza como consecuencia de una alteración de los núcleos grises, esto es, se discutirá la aparición de apraxias como producto de una disfunción de los GB causada por una lesión o por una enfermedad neurodegenerativa. El texto finaliza con una somera discusión sobre los hallazgos más relevantes y se exponen algunas conclusiones.

  14. Effects of combined training vs aerobic training on cognitive functions in COPD: a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Aquino G

    2016-04-01

    Full Text Available Giovanna Aquino,1 Enzo Iuliano,1 Alessandra di Cagno,2 Angela Vardaro,3 Giovanni Fiorilli,1 Stefano Moffa,1 Alfonso Di Costanzo,1 Giuseppe De Simone,3 Giuseppe Calcagno1 1Department of Medicine and Health Sciences “Vincenzo Tiberio”, University of Molise, Campobasso, 2Department of Health Science, University ForoItalico, Rome, 3“Villa Margherita”, Benevento, Italy Aim: The aim of this study was to investigate the effects of high-intensity aerobic training (AT and high-intensity aerobic training combined with resistance training (ie, combined training [CT] on cognitive function in patients with COPD. Methods: Twenty-eight Caucasian male patients (68.35±9.64 years; mean ± SD with COPD were recruited and randomized into two groups, AT and CT. Both groups performed physical reconditioning for 4 weeks, with a frequency of five training sessions per week. The CT group completed two daily sessions of 30 minutes: one aerobic session and one strength session, respectively; The AT group performed two 30-minute aerobic endurance exercise sessions on treadmill. Physical and cognitive function tests were performed before and after the training intervention performances. Results: Exercise training improved the following cognitive functions: long-term memory, verbal fluency, attentional capacity, apraxia, and reasoning skills (P<0.01. Moreover, the improvements in the CT group were significantly greater than those in the AT group in long-term memory, apraxia, and reasoning skills (P<0.05. Conclusion: CT may be a possible strategy to prevent cognitive decline and associated comorbidities in male patients with COPD. Keywords: physical training, cognition, resistance training, rehabilitation, respiratory disease

  15. Effect of meaning on apraxic finger imitation deficits.

    Science.gov (United States)

    Achilles, E I S; Fink, G R; Fischer, M H; Dovern, A; Held, A; Timpert, D C; Schroeter, C; Schuetz, K; Kloetzsch, C; Weiss, P H

    2016-02-01

    Apraxia typically results from left-hemispheric (LH), but also from right-hemispheric (RH) stroke, and often impairs gesture imitation. Especially in LH stroke, it is important to differentiate apraxia-induced gesture imitation deficits from those due to co-morbid aphasia and associated semantic deficits, possibly influencing the imitation of meaningful (MF) gestures. To explore this issue, we first investigated if the 10 supposedly meaningless (ML) gestures of a widely used finger imitation test really carry no meaning, or if the test also contains MF gestures, by asking healthy subjects (n=45) to classify these gestures as MF or ML. Most healthy subjects (98%) classified three of the 10 gestures as clearly MF. Only two gestures were considered predominantly ML. We next assessed how imitation in stroke patients (255 LH, 113 RH stroke) is influenced by gesture meaning and how aphasia influences imitation of LH stroke patients (n=208). All patients and especially patients with imitation deficits (17% of LH, 27% of RH stroke patients) imitated MF gestures significantly better than ML gestures. Importantly, meaningfulness-scores of all 10 gestures significantly predicted imitation scores of patients with imitation deficits. Furthermore, especially in LH stroke patients with imitation deficits, the severity of aphasia significantly influenced the imitation of MF, but not ML gestures. Our findings in a large patient cohort support current cognitive models of imitation and strongly suggest that ML gestures are particularly sensitive to detect imitation deficits while minimising confounding effects of aphasia which affect the imitation of MF gestures in LH stroke patients. PMID:26721762

  16. Joubert syndrome: large clinical variability and a unique neuroimaging aspect Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica

    Directory of Open Access Journals (Sweden)

    Emília Katiane Embiruçu Leão

    2010-04-01

    Full Text Available Joubert syndrome (JS is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus, renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.A síndrome de Joubert (SJ é uma doença hereditária, autossômica recessiva, caracterizada por hipotonia, hipoplasia do vermis cerebelar, anormalidades oculares (p.ex., retinite pigmentar, apraxia oculomotora e nistagmo, cistos renais e fibrose hepática. Anormalidades respiratórias tais como apnéia e hiperpnéia podem estar presentes, assim como deficiência mental. Pelo menos sete loci e cinco genes diferentes associados à SJ já foram identificados. Este artigo relata cinco crianças com SJ, pertencentes a diferentes famílias. Todos os pacientes compartilham a mesma anormalidade típica da RM, conhecida como sinal do dente molar, e apresentam ampla variabilidade clínica em relação ao desempenho cognitivo, comprometimento visual e alterações extra-neurológicas.

  17. Caracterização da patologia cerebral, da psicopatologia e da heredologia psiquiátrica na doutrina de Kleist

    Directory of Open Access Journals (Sweden)

    Aníbal Silveira

    1959-06-01

    Full Text Available O ano de 1959 assinala três datas especiais em uma das mais férteis carreiras científicas: completa 80 anos Karl Kleist, nascido em Mülhausen, na Alsácia, a 31 de janeiro de 1879, que comemora o jubileu de venia legendi (1909; e há um quarto de século veio à luz a Gehirnpathologie (1934, que marca a nova era da fisiopatologia cerebral. A construção doutrinária de Kleist combina e aperfeiçoa as diretrizes isoladas de Meynert, de Wernicke e de Kraepelin. Constitui nela uma constante a união da psicopatologia à patologia cerebral; e a pesquisa no domínio clínico se norteia pela patogenia, pela heredologia e pela catamnese sistemática. Na própria patogênese - tanto dos quadros clínicos como dos sintomas - há a considerar a diferente participação do tronco cerebral e da corticalidade. E aqui, a seu turno, é preciso distinguir as funções que dependem de regiões posteriores. Assim, descreveu Kleist, respectivamente, os distúrbios agramáticos e os paragramáticos, os alógicos e os paralógicos, em analogia com os afásicos e os parafásicos. Demonstrou pela primeira vez, em 1905, a existência da afasia de condução e isolou dois novos tipos de apraxia: a apraxia segmentar e a apraxia de construção. Outros quadros psicopatológicos descritos por êle também se tornaram clássicos: a carência de iniciativa, a apraxia de iniciativa, a apraxia de ação coordenada (Handlungsfolge, a cegueira espacial (Ortsblindheit, a agnosia cromática - que depende da noção abstrata de côr e nada tem a ver com o daltonismo - e ainda os quadros psiquiátricos cíngulo-orbitários. Divide a esfera da personalidade em diversos estratos de grande relevância clínico-localizatória (quadro 1. A carta localizatória - plano estrutural e funcional do cérebro - ultrapassa a qualquer empreendimento análogo, tanto pela análise penetrante quanto pela adaptação à realidade clínica (figs. 1 e 2. Sobreleva notar aí que Kleist separa

  18. Supplementary motor complex and disturbed motor control – a retrospective clinical and lesion analysis of patients after anterior cerebral artery stroke

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    Florian eBrugger

    2015-10-01

    Full Text Available Background: Both the supplementary motor complex (SMC, consisting of the supplementary motor area (SMA-proper, the pre-SMA and the supplementary eye field, and the rostral cingulate cortex (ACC are supplied by the anterior cerebral artery (ACA and are involved in higher motor control. The Bereitschaftspotential (BP originates from the SMC and reflects cognitive preparation processes before volitional movements. ACA strokes may lead to impaired motor control in the absence of limb weakness and evoke an alien-hand syndrome (AHS in its extreme form.Aim: To characterize the clinical spectrum of disturbed motor control after ACA strokes including signs attributable to AHS and to identify the underlying neuroanatomical correlates.Methods: A clinical assessment focusing on signs of disturbed motor control including intermanual conflict (i.e. bilateral hand movements directed at opposite purposes, lack of self-initiated movements, exaggerated grasping, motor perseverations, mirror movements and gait apraxia was performed. Symptoms were grouped into A AHS specific and B non-AHS specific signs of upper limbs and C gait apraxia. Lesion summation mapping was applied to the patients’ MRI or CT scans to reveal associated lesion patterns. The BP was recorded in two patients.Results: Ten patients with ACA strokes (9 unilateral, 1 bilateral; mean age: 74.2 years; median NIH-SS at admission: 13.0 were included in this case series. In the acute stage, all cases had marked difficulties to perform volitional hand movements, while movements in response to external stimuli were preserved. In the chronic stage (median follow-up: 83.5 days initiation of voluntary movements improved, although all patients showed persistent signs of disturbed motor control. Impaired motor control is predominantly associated with damaged voxels within the SMC and the anterior and medial cingulate cortex, while lesions within the pre-SMA are specifically related to AHS. No BP was detected

  19. Broca's aphemia: an illustrated account of its clinico-anatomic validity Afemia de Broca: um relato ilustrado sobre sua validade anátomo-clínica

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    Ricardo de Oliveira-Souza

    2007-12-01

    Full Text Available OBJECTIVE: To present the case of a 54-year-old man with loss of speech, but with preservation of voluntary facio-lingual motility, language and other cognitive abilities (Broca's aphemia. METHOD: Observation of patient oral communicative abilities and general behavior, neuropsychological assessment and cranial computed tomography. RESULTS: Computed tomography showed a hyperdense lesion in the subcortex of the left precentral gyrus corresponding to Brodmann's area 6 and 44. Neuropsychological assessment confirmed that the major cognitive domains were intact. CONCLUSION: Our patient reiterates the validity of Broca's aphemia as a clinico-anatomic entity allowing us to portray it for the first time in pictures. From a neurobehavioral perspective, aphemia is related to apraxia rather than to aphasia, a fact that may have hampered the full grasp of its far-reaching implications for neurology and aphasiology.OBJETIVO: Apresentar o caso de um paciente de 54 anos de idade com perda da fala, mas preservação da linguagem, das demais capacidades cognitivas, e da motilidade fácio-lingual voluntária (afemia de Broca. MÉTODO: Observação da capacidade de comunicação oral e do comportamento geral, exame neuropsicológico e tomografia computadorizada do crânio. RESULTADOS: A tomografia computadorizada revelou lesão hiperdensa no subcórtex do giro precentral esquerdo correspondendo às áreas 6 e 44 de Brodmann. O exame neuropsicológico confirmou que os principais domínios cognitivos se encontravam intactos. CONCLUSÃO: Nosso paciente reiterou a validade da afemia de Broca como entidade anátomo-clínico permitindo documentá-la em fotos pela primeira vez. Da perspectiva neurocomportamental, a afemia está vinculada às apraxias e não às afasias, o que pode ter prejudicado a apreensão plena do seu profundo significado para a neurologia e para a afasiologia.

  20. Pantomime to visual presentation of objects: left hand dyspraxia in patients with complete callosotomy.

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    Lausberg, Hedda; Cruz, Robyn F; Kita, Sotaro; Zaidel, Eran; Ptito, Alain

    2003-02-01

    Investigations of left hand praxis in imitation and object use in patients with callosal disconnection have yielded divergent results, inducing a debate between two theoretical positions. Whereas Liepmann suggested that the left hemisphere is motor dominant, others maintain that both hemispheres have equal motor competences and propose that left hand apraxia in patients with callosal disconnection is secondary to left hemispheric specialization for language or other task modalities. The present study aims to gain further insight into the motor competence of the right hemisphere by investigating pantomime of object use in split-brain patients. Three patients with complete callosotomy and, as control groups, five patients with partial callosotomy and nine healthy subjects were examined for their ability to pantomime object use to visual object presentation and demonstrate object manipulation. In each condition, 11 objects were presented to the subjects who pantomimed or demonstrated the object use with either hand. In addition, six object pairs were presented to test bimanual coordination. Two independent raters evaluated the videotaped movement demonstrations. While object use demonstrations were perfect in all three groups, the split-brain patients displayed apraxic errors only with their left hands in the pantomime condition. The movement analysis of concept and execution errors included the examination of ipsilateral versus contralateral motor control. As the right hand/left hemisphere performances demonstrated retrieval of the correct movement concepts, concept errors by the left hand were taken as evidence for right hemisphere control. Several types of execution errors reflected a lack of distal motor control indicating the use of ipsilateral pathways. While one split-brain patient controlled his left hand predominantly by ipsilateral pathways in the pantomime condition, the error profile in the other two split-brain patients suggested that the right hemisphere

  1. Clinical and neuroimaging analysis of 4 patients with corticobasal degeneration syndrome%皮质基底节变性综合征四例临床及影像学分析

    Institute of Scientific and Technical Information of China (English)

    张美云; 张本恕; 王颖; 高硕

    2012-01-01

    目的 探讨皮质基底节变性综合征的临床特征、影像学表现和治疗.方法 对4例临床诊断皮质基底节变性患者的资料进行回顾性分析.结果 4例患者的首发症状均为单侧肢体的帕金森样表现,对左旋多巴治疗无反应,4例均有肢体失用、构音障碍,3例伴肌阵挛,2例伴有痴呆,1例伴不自主运动.4例患者头部MRI扫描均显示受累肢体对侧脑皮质萎缩,以额顶叶显著;头葡萄糖代谢正电子发射断层扫描(FDG-PET)检查均显示不对称的大脑皮质和基底节区葡萄糖代谢减低.结论 皮质基底节变性综合征患者的临床特征为不对称的帕金森样表现,可伴有认知功能障碍、失用、构音障碍、肌阵挛和不自主运动等症状;头MRI、FDG-PET检查有助于诊断;目前尚无有效治疗方法.%Objective To investigate clinical and imaging features of corticobasal degeneration syndrome (CBDS). Methods A clinical, imaging and therapeutic analysis of 4 cases of clinically diagnosed with corticobasal degeneration was conducted. Results Asymmetric parkinsonism was the first symptom in all 4 cases who lacked of response to levodopa. Other symptoms including limb apraxia and anarthria occurred in all 4 cases,myoclonus occurred in three,dementia occurred in two,and involuntary movement occurred in one. All the patients had asymmetric frontoparietal cortical atrophy in the contralateral to the dominantly affected limbs on MRI.Asymmetric hypometabolism of the frontoparietal cortex and basal ganglia was observed on 18 F-FDG PET in all 4 cases.Conclusions The clinical features of CBDS are asymmetric parkinsonism,dementia,apraxia,anarthria,myoclonus,and involuntary movement.Brain MRI and 18 F-FDG PET are helpful to diagnosis of CBDS.There is no effective treatment for CBDS at this time.

  2. Mirror image agnosia

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    Sadanandavalli Retnaswami Chandra

    2014-01-01

    Full Text Available Background: Gnosis is a modality-specific ability to access semantic knowledge of an object or stimulus in the presence of normal perception. Failure of this is agnosia or disorder of recognition. It can be highly selective within a mode. self-images are different from others as none has seen one′s own image except in reflection. Failure to recognize this image can be labeled as mirror image agnosia or Prosopagnosia for reflected self-image. Whereas mirror agnosia is a well-recognized situation where the person while looking at reflected images of other objects in the mirror he imagines that the objects are in fact inside the mirror and not outside. Material and Methods:: Five patients, four females, and one male presented with failure to recognize reflected self-image, resulting in patients conversing with the image as a friend, fighting because the person in mirror is wearing her nose stud, suspecting the reflected self-image to be an intruder; but did not have prosopagnosia for others faces, non living objects on self and also apraxias except dressing apraxia in one patient. This phenomena is new to our knowledge. Results: Mirror image agnosia is an unique phenomena which is seen in patients with parietal lobe atrophy without specificity to a category of dementing illness and seems to disappear as disease advances. Discussion: Reflected self-images probably have a specific neural substrate that gets affected very early in posterior dementias specially the ones which predominantly affect the right side. At that phase most patients are mistaken as suffering from psychiatric disorder as cognition is moderately preserved. As disease becomes more widespread this symptom becomes masked. A high degree of suspicion and proper assessment might help physicians to recognize the organic cause of the symptom so that early therapeutic interventions can be initiated. Further assessment of the symptom with FMRI and PET scan is likely to solve the mystery

  3. 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

  4. A novel tablet computer platform for advanced language mapping during awake craniotomy procedures.

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    Morrison, Melanie A; Tam, Fred; Garavaglia, Marco M; Golestanirad, Laleh; Hare, Gregory M T; Cusimano, Michael D; Schweizer, Tom A; Das, Sunit; Graham, Simon J

    2016-04-01

    A computerized platform has been developed to enhance behavioral testing during intraoperative language mapping in awake craniotomy procedures. The system is uniquely compatible with the environmental demands of both the operating room and preoperative functional MRI (fMRI), thus providing standardized testing toward improving spatial agreement between the 2 brain mapping techniques. Details of the platform architecture, its advantages over traditional testing methods, and its use for language mapping are described. Four illustrative cases demonstrate the efficacy of using the testing platform to administer sophisticated language paradigms, and the spatial agreement between intraoperative mapping and preoperative fMRI results. The testing platform substantially improved the ability of the surgeon to detect and characterize language deficits. Use of a written word generation task to assess language production helped confirm areas of speech apraxia and speech arrest that were inadequately characterized or missed with the use of traditional paradigms, respectively. Preoperative fMRI of the analogous writing task was also assistive, displaying excellent spatial agreement with intraoperative mapping in all 4 cases. Sole use of traditional testing paradigms can be limiting during awake craniotomy procedures. Comprehensive assessment of language function will require additional use of more sophisticated and ecologically valid testing paradigms. The platform presented here provides a means to do so.

  5. Rett syndrome: basic features of visual processing-a pilot study of eye-tracking.

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    Djukic, Aleksandra; Valicenti McDermott, Maria; Mavrommatis, Kathleen; Martins, Cristina L

    2012-07-01

    Consistently observed "strong eye gaze" has not been validated as a means of communication in girls with Rett syndrome, ubiquitously affected by apraxia, unable to reply either verbally or manually to questions during formal psychologic assessment. We examined nonverbal cognitive abilities and basic features of visual processing (visual discrimination attention/memory) by analyzing patterns of visual fixation in 44 girls with Rett syndrome, compared with typical control subjects. To determine features of visual fixation patterns, multiple pictures (with the location of the salient and presence/absence of novel stimuli as variables) were presented on the screen of a TS120 eye-tracker. Of the 44, 35 (80%) calibrated and exhibited meaningful patterns of visual fixation. They looked longer at salient stimuli (cartoon, 2.8 ± 2 seconds S.D., vs shape, 0.9 ± 1.2 seconds S.D.; P = 0.02), regardless of their position on the screen. They recognized novel stimuli, decreasing the fixation time on the central image when another image appeared on the periphery of the slide (2.7 ± 1 seconds S.D. vs 1.8 ± 1 seconds S.D., P = 0.002). Eye-tracking provides a feasible method for cognitive assessment and new insights into the "hidden" abilities of individuals with Rett syndrome.

  6. Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

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    Julie Harvengt

    2014-01-01

    Full Text Available A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the GBA gene. She was treated by enzyme replacement therapy (ERT. Clinical follow-up showed mild developmental delay, strabismus, nystagmus and oculomotor apraxia. Biochemical studies revealed multiple respiratory chain deficiencies and a mosaic pattern of deficient complex IV immunostaining in liver and fibroblast. Molecular analysis identified a mtDNA depletion syndrome due to the homozygous p.Pro98Leu mutation in MPV17. A younger sister unaffected by mtDNA depletion, presented with pancytopenia and hepatosplenomegaly. ERT for Gaucher disease resulted in visceral normalization without any neurological symptom. A third sister, affected by both conditions, had marked developmental delay, strabismus and ophthalmoplegia but no liver cirrhosis. In conclusion, intrafamilal variability occurs in MPV17-related disease. The combined pathological effect of Gaucher and mitochondrial diseases can negatively impact neurological and liver functions and influence the outcome in consanguineous families. The immunocytochemical staining of OXPHOS protein in tissues and cultured cells is a powerful tool revealing mosaic pattern of deficiency pointing to mtDNA-related mitochondrial disorders.

  7. VALIDITY OF THE CONNECTION INTER-LEXICAL A-SEMANTICS IN THE COGNITIVE MODEL OF PROCESSING PRAXIS

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    P. G. Gómez

    2011-07-01

    Full Text Available Rothia Gonzalez et al. (1991, 1997 postulated a cognitive model of praxis on which changes were proposed (Cubelli et al., 2000, including the removal of the direct path between both input praxicon and output. Was suggested that to validate an inter-lexical a-semantics path (Cubelli et al., 2000 would enough to find a patientwith preserved ability for imitate familiar gestures, but with disturbances in the ability to access to the meaning of familiar gestures and alterations in ability for imitate unfamiliar gestures. The aim of this work is present two patients whose patterns ofperformance on praxis supports the existence of a pathway inter-lexical a-semantic. We evaluated two patients with Alzheimer type dementia unlikely with a battery of cognitive assessment of apraxia (Politis 2003. Both patients show alterations in test of Imitation of unfamiliar gestures and on tasks which assess semantic action objecttool watching and naming by function, with good performance on the task of imitating familiar gestures. Based on cognitive models of praxis Rothia Gonzalez et al. (1991, 1997 and Cubelli et al. (2000 is require a direct connection between both input praxicon and output to explain the performance of these patients. Of thus, the performance pattern showing both patients confirms existence of a pathway.Interlexical asemantics

  8. Right hemisphere dominance for language in a woman with schizophrenia and a porencephalic cyst of the left hemisphere.

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    de Oliveira-Souza, Ricardo; Monteiro, Myriam; Pacheco, Paula; Tovar-Moll, Fernanda; Mattos, Paulo; Moll, Jorge; Nazar, Bruno Palazzo

    2016-06-01

    A large left hemisphere porencephalic cyst was incidentally found in a 48-year-old woman (MS) with a Diagnostic and Statistical Manual (DSM)-5 diagnosis of schizophrenia. The encephaloclastic characteristics of the cyst indicated that it was acquired between the 22nd and 24th gestational weeks, after the major waves of neuronal migration had tapered off. The cyst destroyed the left temporal and occipital lobes, and the inferior parietal lobule. Surprisingly, MS had no evidence of aphasia, alexia, agraphia, or ideational apraxia; in contrast, cognitive functions dependent on the integrity of the right hemisphere were severely impaired. To test the hypothesis that the development of language in MS took place at the expense of functions that are normally carried out by the right hemisphere, we investigated MS's correlates of oral comprehension with fMRI as a proxy for auditory comprehension and other cognitive functions strongly lateralized to the posterior left hemisphere, such as ideational praxis and reading. Comprehension of spoken language engaged the homologous of Wernicke's area in the right planum temporale. Porencephaly may represent a natural model of neuroplasticity supervening at predictable epochs of prenatal development. PMID:27283036

  9. The PAVE (peeling-assisted volume-enhancing) lift: A retrospective 6-year clinical analysis of a combined approach for facial rejuvenation.

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    Kaye, Kai Oliver; Schaller, Hans-Eberhard; Jaminet, Patrick; Gonser, Phillipp

    2016-08-01

    The peeling-assisted volume-enhancing (PAVE) lift is a single-stage approach that combines superficial musculoaponeurotic system (SMAS) plication techniques with fat grafting and different peeling agents. To evaluate the safety of this approach, we analyzed the records of 159 patients who underwent surgery between 2008 and 2014. The percentage of complications observed was not higher than values reported in the literature for each treatment entity: surgical facelift: n=3 haematomas (1.89 %), n=2; temporary apraxia of the mandibular branch (1.26%); fat transfer: minor asymmetry in n = 5 cases (3.14%); peeling: temporary hyperpigmentation in trichloroacetic acid (n = 5; 3.8%) and phenol peels (n = 4; 3.1%), permanent hypopigmentation (n = 6; 5.6%), formation of skin miliae persisting longer than 2 to 3 months (n = 5; 4.6%) and prolonged erythema (n = 3; 0.28%) in phenol peels. The single-stage use of chemical peels, autologous fat transfer, and surgical rhytidectomy was safe. PMID:27320171

  10. What neuropsychology tells us about human tool use? The four constraints theory (4CT): mechanics, space, time, and effort.

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    Osiurak, François

    2014-06-01

    Our understanding of human tool use comes mainly from neuropsychology, particularly from patients with apraxia or action disorganization syndrome. However, there is no integrative, theoretical framework explaining what these neuropsychological syndromes tell us about the cognitive/neural bases of human tool use. The goal of the present article is to fill this gap, by providing a theoretical framework for the study of human tool use: The Four Constraints Theory (4CT). This theory rests on two basic assumptions. First, everyday tool use activities can be formalized as multiple problem situations consisted of four distinct constraints (mechanics, space, time, and effort). Second, each of these constraints can be solved by the means of a specific process (technical reasoning, semantic reasoning, working memory, and simulation-based decision-making, respectively). Besides presenting neuropsychological evidence for 4CT, this article shall address epistemological, theoretical and methodological issues I will attempt to resolve. This article will discuss how 4CT diverges from current cognitive models about several widespread hypotheses (e.g., notion of routine, direct and automatic activation of tool knowledge, simulation-based tool knowledge).

  11. The novel Tau mutation G335S: clinical, neuropathological and molecular characterization.

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    Spina, Salvatore; Murrell, Jill R; Yoshida, Hirotaka; Ghetti, Bernardino; Bermingham, Niamh; Sweeney, Brian; Dlouhy, Stephen R; Crowther, R Anthony; Goedert, Michel; Keohane, Catherine

    2007-04-01

    Mutations in Tau cause the inherited neurodegenerative disease, frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). Known coding region mutations cluster in the microtubule-binding region, where they alter the ability of tau to promote microtubule assembly. Depending on the tau isoforms, this region consists of three or four imperfect repeats of 31 or 32 amino acids, each of which contains a characteristic and invariant PGGG motif. Here, we report the novel G335S mutation, which changes the PGGG motif of the third tau repeat to PGGS, in an individual who developed social withdrawal, emotional bluntness and stereotypic behavior at age 22, followed by disinhibition, hyperorality and ideomotor apraxia. Abundant tau-positive inclusions were present in neurons and glia in the frontotemporal cortex, hippocampus and brainstem. Sarkosyl-insoluble tau showed paired helical and straight filaments, as well as more irregular rope-like filaments. The pattern of pathological tau bands was like that of Alzheimer disease. Experimentally, the G335S mutation resulted in a greatly reduced ability of tau to promote microtubule assembly, while having no significant effect on heparin-induced assembly of recombinant tau into filaments.

  12. Arl13b and the exocyst interact synergistically in ciliogenesis.

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    Seixas, Cecília; Choi, Soo Young; Polgar, Noemi; Umberger, Nicole L; East, Michael P; Zuo, Xiaofeng; Moreiras, Hugo; Ghossoub, Rania; Benmerah, Alexandre; Kahn, Richard A; Fogelgren, Ben; Caspary, Tamara; Lipschutz, Joshua H; Barral, Duarte C

    2016-01-15

    Arl13b belongs to the ADP-ribosylation factor family within the Ras superfamily of regulatory GTPases. Mutations in Arl13b cause Joubert syndrome, which is characterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and mental retardation. Arl13b is highly enriched in cilia and is required for ciliogenesis in multiple organs. Nevertheless, the precise role of Arl13b remains elusive. Here we report that the exocyst subunits Sec8, Exo70, and Sec5 bind preferentially to the GTP-bound form of Arl13b, consistent with the exocyst being an effector of Arl13b. Moreover, we show that Arl13b binds directly to Sec8 and Sec5. In zebrafish, depletion of arl13b or the exocyst subunit sec10 causes phenotypes characteristic of defective cilia, such as curly tail up, edema, and abnormal pronephric kidney development. We explored this further and found a synergistic genetic interaction between arl13b and sec10 morphants in cilia-dependent phenotypes. Through conditional deletion of Arl13b or Sec10 in mice, we found kidney cysts and decreased ciliogenesis in cells surrounding the cysts. Moreover, we observed a decrease in Arl13b expression in the kidneys from Sec10 conditional knockout mice. Taken together, our results indicate that Arl13b and the exocyst function together in the same pathway leading to functional cilia.

  13. Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

    Science.gov (United States)

    Cox-Brinkman, J; van Breemen, M J; van Maldegem, B T; Bour, L; Donker, W E; Hollak, C E M; Wijburg, F A; Aerts, J M F G

    2008-12-01

    We report three siblings with Gaucher disease type III, born between 1992 and 2004. During this period, new developments resulted in different potential therapies, changing clinical practice. The two eldest siblings received enzyme replacement therapy (ERT) from the age of 24 and 5 months respectively, later followed by an increase in dosage. ERT was combined with substrate reduction therapy (SRT) from the ages of 12 and 8 years, respectively. In the youngest sibling the combination of high-dose ERT and SRT was given from the age of 5 months. The two eldest siblings showed significant neurological impairment from the age of 1.5 years, starting with a convergent strabismus and partial oculomotor apraxia, followed by cognitive decline and an abnormal EEG and BAER. In contrast, the neurological development in the youngest sibling is almost completely normal. At the age of 3 years, cognitive development, EEG and BAER are all normal. Disturbed saccadic eye movements, which were already present at the start of therapy, remained stable. In addition to the clinical efficacy, we report on the biochemical response to therapy. Based on our results, the combination of high-dose ERT and SRT should be considered as a possible therapeutic approach for GD III, especially if started at a young age. Further follow-up studies are necessary to explore the long-term therapeutic effects. PMID:18850301

  14. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

    Science.gov (United States)

    Bader, Ingrid; Decker, E; Mayr, J A; Lunzer, V; Koch, J; Boltshauser, E; Sperl, W; Pietsch, P; Ertl-Wagner, B; Bolz, H; Bergmann, C; Rittinger, O

    2016-08-01

    Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. The "molar tooth sign" is pathognomonic of this condition. Mutations in the MKS1 gene are a major cause of Meckel-Gruber syndrome (MKS), the most common form of syndromic neural tube defects, frequently resulting in perinatal lethality. We present the phenotype and genotype of a child with severe JS and agenesis of the corpus callosum (ACC). In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland. We review the MKS1-variants in all of the eleven JS patients reported to date and compare these patients to our case. To our knowledge, this is the first patient with Joubert syndrome and agenesis of the corpus callosum where a potentially causal genotype is provided. PMID:27377014

  15. Maurice Ravel and right-hemisphere musical creativity: influence of disease on his last musical works?

    Science.gov (United States)

    Amaducci, L; Grassi, E; Boller, F

    2002-01-01

    The problem of finding correspondence between a particular neuronal organization and a specific function of the human brain remains a central question of neuroscience. It is sometimes thought that language and music are two sides of the same intellectual coin, but research on brain-damaged patients has shown that the loss of verbal functions (aphasia) is not necessarily accompanied by a loss of musical abilities (amusia). Amusia without aphasia has also been described. This double dissociation indicates functional autonomy in these mental processes. Yet verbal and musical impairments often occur together. The global picture that emerges from studies of music and its neural substrate is by no means clear and much depends on which subjects and which aspect of musical abilities are investigated. An illustration of these concepts is provided by the case of the French composer Maurice Ravel, who suffered from a progressive cerebral disease of uncertain aetiology, with prominent involvement of the left hemisphere. As a result, Ravel experienced aphasia and apraxia and became unable to compose. The available facts favour a clinical diagnosis of primary progressive aphasia (PPA), with the possibility of an overlap with corticobasal degeneration (CBD). In view of Ravel's clinical history, we propose that two of his final compositions, the Bolero and the Concerto for the Left Hand, include certain patterns characteristic of right-hemisphere musical abilities and may show the influence of disease on the creative process. PMID:11784380

  16. Different visual exploration of tool-related gestures in left hemisphere brain damaged patients is associated with poor gestural imitation.

    Science.gov (United States)

    Vanbellingen, Tim; Schumacher, Rahel; Eggenberger, Noëmi; Hopfner, Simone; Cazzoli, Dario; Preisig, Basil C; Bertschi, Manuel; Nyffeler, Thomas; Gutbrod, Klemens; Bassetti, Claudio L; Bohlhalter, Stephan; Müri, René M

    2015-05-01

    According to the direct matching hypothesis, perceived movements automatically activate existing motor components through matching of the perceived gesture and its execution. The aim of the present study was to test the direct matching hypothesis by assessing whether visual exploration behavior correlate with deficits in gestural imitation in left hemisphere damaged (LHD) patients. Eighteen LHD patients and twenty healthy control subjects took part in the study. Gesture imitation performance was measured by the test for upper limb apraxia (TULIA). Visual exploration behavior was measured by an infrared eye-tracking system. Short videos including forty gestures (20 meaningless and 20 communicative gestures) were presented. Cumulative fixation duration was measured in different regions of interest (ROIs), namely the face, the gesturing hand, the body, and the surrounding environment. Compared to healthy subjects, patients fixated significantly less the ROIs comprising the face and the gesturing hand during the exploration of emblematic and tool-related gestures. Moreover, visual exploration of tool-related gestures significantly correlated with tool-related imitation as measured by TULIA in LHD patients. Patients and controls did not differ in the visual exploration of meaningless gestures, and no significant relationships were found between visual exploration behavior and the imitation of emblematic and meaningless gestures in TULIA. The present study thus suggests that altered visual exploration may lead to disturbed imitation of tool related gestures, however not of emblematic and meaningless gestures. Consequently, our findings partially support the direct matching hypothesis. PMID:25841335

  17. [Corticobasal syndrome: recent advances and future directions].

    Science.gov (United States)

    Aiba, Ikuko

    2012-04-01

    Corticobasal degeneration (CBD) is a progressive neurodegenerative disorder described by Rebeiz et al. It is characterized by progressive, asymmetric, cortical (eg, apraxia, alien limb phenomena, cortical sensory loss, and myoclonus), and extrapyramidal (eg, rigidity, bradykinesia, dystonia, and tremor) dysfunction. However, CBD has many clinical phenotypes, and the features used for predicting CBD have low sensitivity. Therefore, the term corticobasal syndrome (CBS) has been used to characterize such clinical features, whereas the term CBD is used to refer to the pathological disorder. The most frequent causes of CBS are CBD, followed by Alzheimer's disease, progressive supranuclear palsy, frontotemporal lobar degeneration with TDP-43 pathology (sporadic and familial), Pick's disease, Lewy body disease, frontotemporal lobar degeneration with fused in sarcoma-positive inclusions, Creutzfeldt-Jakob disease, and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes. The topography of neurodegeneration dictates the clinical syndrome not according to the underlying pathology. Researchers have attempted to develop fluid biomarkers or imaging analysis for diagnosing CBS. The aim of this review was to highlight recent advances in CBS diagnosis and discuss future directions.

  18. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

    Science.gov (United States)

    Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria

    2016-01-01

    Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS. PMID:26932191

  19. Cerebral blood flow and metabolism analysis in parkinsonian disorders

    International Nuclear Information System (INIS)

    Main metabolic and hemodynamic abnormalities detected by single photon emission computerized tomography and positron emission tomography in extra-pyramidal disorders are reported. In the first stage of Parkinson's disease, cortical metabolism and perfusion can be in normal range or moderately and uniformly reduced. A significant decrease may appear with the disease evolution. Marked abnormalities are observed in parkinsonian patients with dementia (subcortical dementia), involving especially the frontal cortex. A marked diffuse cortical hypo-metabolism (temporal, parietal, occipital and frontal cortex) may suggest the diagnosis of dementia with Lewy bodies, especially in case of fluctuating cognitive decline with recurrent visual hallucinations. In progressive supra-nuclear palsy, a frontal cortex hypo-metabolism is reported precociously, preceding sometimes the cognitive impairment. Metabolic pattern find in multiple system atrophy reflects dysfunction of both nigrostriatal pathways and striatum, with a decrease glucose uptake in putamen and caudate nucleus which also involves cerebellum for the patients with cerebellar syndrome. In cortico-basal degeneration, asymmetric fronto-parietal and striatal hypo-metabolism observed in the controlateral hemisphere to the clinically most affected side, constitute the main characteristic well correlated with apraxia. (author)

  20. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

    Directory of Open Access Journals (Sweden)

    D. Wong

    2013-01-01

    Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

  1. Preliminary Evaluation of a Personal Healthcare System Prototype for Cognitive eRehabilitation in a Living Assistance Domain

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    Matteo Pastorino

    2014-06-01

    Full Text Available The integration of rehabilitation systems in an ambient assisted living environment can provide a powerful and versatile tool for long-term stroke rehabilitation goals. This paper introduces a novel concept of a personalized cognitive rehabilitation system in a naturalistic setting. The proposed platform was developed within the CogWatch project, with the intent of fostering independence in activities of daily living in patients with apraxia and action disorganization syndrome. Technical usability was evaluated in a series of pilot experiments, which illustrate how this approach may help to retrain patients in activities of daily living. The first system prototype has been tested with 36 participants divided into three groups, providing an exploratory evaluation of the usability of this solution and its acceptability. The technical solutions used within the CogWatch project are targeted to meet both the end users’ needs from the interaction and usability point of views and the clinical requirements associated with the use of such systems. The challenges behind the development of ambient assisted living systems for cognitive rehabilitation are discussed.

  2. [Music therapy for dementia and higher cognitive dysfunction: a review].

    Science.gov (United States)

    Satoh, Masayuki

    2011-12-01

    Music is known to affect the human mind and body. Music therapy utilizes the effects of music for medical purposes. The history of music therapy is quite long, but only limited evidence supports its usefulness in the treatment of higher cognitive dysfunction. As for dementia, some studies conclude that music therapy is effective for preventing cognitive deterioration and the occurrence of behavioral and psychological symptoms of dementia (BPSD). In patients receiving music therapy for the treatment of higher cognitive dysfunction, aphasia was reported as the most common symptom. Many studies have been conducted to determine whether singing can improve aphasic symptoms: singing familiar and/or unfamiliar songs did not show any positive effect on aphasia. Melodic intonation therapy (MIT) is a method that utilizes melody and rhythm to improve speech output. MIT is a method that is known to have positive effects on aphasic patients. Some studies of music therapy for patients with unilateral spatial neglect; apraxia; hemiparesis; and walking disturbances, including parkinsonian gait, are available in the literature. Studies showed that the symptoms of unilateral spatial neglect and hemiparesis significantly improved when musical instruments were played for several months as a part of the music therapy. Here, I describe my study in which mental singing showed a positive effect on parkinsonian gait. Music is interesting, and every patient can go through training without any pain. Future studies need to be conducted to establish evidence of the positive effects of music therapy on neurological and neuropsychological symptoms.

  3. Functional MRT in psychiatry and neurology. 2. rev. and upd. ed.

    International Nuclear Information System (INIS)

    The book on functional MRT in psychiatry and neurology covers the following topics: (I) Fundamentals: functional neuro-anatomy, fundamentals of NMR imaging, basic research on the clinical use for diagnostics and therapy; basics of morphometry; real-time fMRT, planning and execution of experimental paradigms; data analysis and statistics; reliability and quality of fMRT experiments; eye movement, neuropharmacologic functional imaging, gender dependent effects, age dependent effects, resting state fMRT; meta analyses. (II) Higher brain achievements: movement and action, perception and attention, visual system and object processing, auditory system, executive functions, somatosensoric system, memory, learning and gratification system, functional neuro-anatomy of speech, number processing and calculation, connectivity, social cognition, emotions, olfactory system, functional imaging in the pain research. (III) Disease pattern: dystonia, Parkinson syndrome, Chorea Huntington, aphasia, apraxia, neglect, amnesia, function recovery following apoplexy, schizophrenia, affective disturbances, anxiety and fear, post-traumatic disturbances, hyperactivity syndrome, personality disorder. (IV) Working tools: brain atlas, tool for integrated analyses of structure, functionality and connectivity (SPM anatomy toolbox).

  4. Brain Perfusion in Corticobasal Syndrome with Progressive Aphasia

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    Yoshitake Abe

    2016-04-01

    Full Text Available Background: Brain perfusion may differ between patients with corticobasal syndrome (CBS with and without aphasia. Methods: Twenty-six (9 males and 17 females; mean age 76 ± 5.3 years patients with CBS were enrolled in the study. Brain MRI and single-photon emission computed tomography were performed in all subjects. Language was evaluated using the Standard Language Test of Aphasia. The patients were divided into two subgroups according to the presence or absence of progressive aphasia. Differences in the regional cerebral blood flow (rCBF between the two groups were detected based on voxel-by-voxel group analysis using Statistical Parametric Mapping 8. Results: All patients exhibited asymmetric motor symptoms and signs, including limb apraxia, bradykinesia, and akinetic rigidity. Of 26 patients, 9 had a clinically obvious language disturbance, characterized as nonfluent aphasia. Almost all CBS patients with aphasia exhibited cortical atrophy predominantly in the left frontal and temporal lobes with widening of the Sylvian fissure on MRI. The rCBF in the left middle frontal gyrus differed significantly between CBS patients with and without aphasia. Conclusion: CBS patients with aphasia exhibit motor symptoms predominantly on the right side and cortical atrophy mainly in the left perisylvian cortices. In particular, left frontal dysfunction might be related to nonfluent aphasia in CBS.

  5. Lack of Frank Agrammatism in the Nonfluent Agrammatic Variant of Primary Progressive Aphasia

    Science.gov (United States)

    Graham, Naida L.; Leonard, Carol; Tang-Wai, David F.; Black, Sandra; Chow, Tiffany W.; Scott, Chris J.M.; McNeely, Alicia A.; Masellis, Mario; Rochon, Elizabeth

    2016-01-01

    Background/Aims Frank agrammatism, defined as the omission and/or substitution of grammatical morphemes with associated grammatical errors, is variably reported in patients with nonfluent variant primary progressive aphasia (nfPPA). This study addressed whether frank agrammatism is typical in agrammatic nfPPA patients when this feature is not required for diagnosis. Method We assessed grammatical production in 9 patients who satisfied current diagnostic criteria. Although the focus was agrammatism, motor speech skills were also evaluated to determine whether dysfluency arose primarily from apraxia of speech (AOS), instead of, or in addition to, agrammatism. Volumetric MRI analyses provided impartial imaging-supported diagnosis. Results The majority of cases exhibited neither frank agrammatism nor AOS. Conclusion There are nfPPA patients with imaging-supported diagnosis and preserved motor speech skills who do not exhibit frank agrammatism, and this may persist beyond the earliest stages of the illness. Because absence of frank agrammatism is a subsidiary diagnostic feature in the logopenic variant of PPA, this result has implications for differentiation of the nonfluent and logopenic variants, and indicates that PPA patients with nonfluent speech in the absence of frank agrammatism or AOS do not necessarily have the logopenic variant.

  6. PHYSIOTHERAPY MANAGEMENT FOR PROGRESSIVE SUPRA NUCLEAR PALSY

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    P. Keerthi Chandra Shekhar.

    2013-06-01

    Full Text Available Background:An elderly patient with disturbances in gait, impaired balance, difficulty moving the eyes andhistory of frequent falls are not commonly seen in physiotherapy referral cases. Progressive supranuclear palsy(PSP is relatively uncommon and is the most frequently occurring form of Atypical Parkinsonism withcardinalfeatures of vertical gaze palsy, gait instability with frequent falls. However, because the initialclinical featuresoften resemble Parkinson’s disease (PD many patients are referred for rehabilitation services withthe wrongdiagnosis as PD. The progression of the symptoms in PSP is much faster than in PD and there is no cure oreffective medication to manage PSP. We describe a case of 59 years old male, patient who was referred tophysiotherapy department for asymmetric limb apraxia, markedly impaired balance and frequent falls duringtransitional movements. Two years before the patient was diagnosis as PD and later the patient was re-diag-nosed as PSP based on the progression of the disease. The patient was rehabilitated using coordination exer-cises and reciprocal rhythmic movements to reduce rigidity, transfer training exercises for balance,gait trainingusing weights strapped to ankles in parallel bar and visual tracking exercises. The exercises wereprogrammedfor 1 ½ hours a day, 5 days a week, for 8 weeks. After 15 weeks there was improvement in gait and balance ofthe patient with decrease in fall incidence on a Progressive Supranuclear Palsy Rating Scale (PSPRS.

  7. [A case of Creutzfeldt-Jakob disease presenting with arm levitation as an initial symptom].

    Science.gov (United States)

    Kamogawa, Kenji; Ninomiya, Satoko; Okuda, Shinya; Matsumoto, Yushi; Tomita, Hitomi; Okamoto, Kensho; Okuda, Bungo

    2014-01-01

    A 74-year-old, right handed man, developed insidiously with levitation and clumsiness of the right upper limb. His right arm tended to levitate spontaneously, when he was examined. He could put the elevated arm down on command, while the arm resumed to antigravity posture when his attention was diverted. His right arm also exhibited unwilled elevation when performing complex finger movements on the right side. He had a feeling of strangeness of the elevated limb, especially with the eyes closed. In addition to asymmetric limb-kinetic apraxia, combined sensations such as stereognosis were disturbed on the right side. Brain MRI showed high signal lesions predominantly in the left cerebral cortices and basal ganglia. SPECT with (123)I-IMP revealed asymmetric hypoperfusion, predominantly in the left medial frontal and parietal regions. Two months after the onset, levitation of the arm gradually disappeared, with the development of rapidly progressive dementia, frontal signs, dystonia and generalized myoclonus. The diagnosis of Creutzfeldt-Jakob disease (CJD) was made based on the clinical features and cerebrospinal fluid biomarkers. The early manifestation of the patient mimicked corticobasal degeneration which presents with arm levitation or alien hand syndrome. It is suggested that CJD can represent involuntary movements with higher brain dysfunction resembling corticobasal degeneration at the early stage of the illness. Although the underlying mechanism of arm levitation is still unknown, frontal disinhibition and parietal cortical sensory disturbance may contribute to the development of involuntary arm levitation in our patient. PMID:25342014

  8. Evidences in the treatment of idiopathic normal pressure hydrocephalus

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    Matheus Fernandes de Oliveira

    2015-06-01

    Full Text Available Summary Introduction: idiopathic normal pressure hydrocephalus (INPH is characterized by gait apraxia, cognitive dysfunction and urinary incontinence. There are two main treatment options: ventriculoperitoneal shunt (VPS and endoscopic third ventriculostomy (ETV. However, there are doubts about which modality is superior and what type of valve should be applied. We are summarizing the current evidence in INPH treatment. Methods: an electronic search of the literature was conducted on the Medline, Embase, Scielo and Lilacs databases from 1966 to the present to obtain data published about INPH treatment. Results: the treatment is based on three pillars: conservative, ETV and VPS. The conservative option has fallen into disuse after various studies showing good results after surgical intervention. ETV is an acceptable mode of treatment, but the superiority of VPS has made the latter the gold standard. Conclusion: well-designed studies with a high level of appropriate evidence are still scarce, but the current gold standard for treatment of INPH is conducted using VPS.

  9. A Foxp2 Mutation Implicated in Human Speech Deficits Alters Sequencing of Ultrasonic Vocalizations in Adult Male Mice

    Science.gov (United States)

    Chabout, Jonathan; Sarkar, Abhra; Patel, Sheel R.; Radden, Taylor; Dunson, David B.; Fisher, Simon E.; Jarvis, Erich D.

    2016-01-01

    Development of proficient spoken language skills is disrupted by mutations of the FOXP2 transcription factor. A heterozygous missense mutation in the KE family causes speech apraxia, involving difficulty producing words with complex learned sequences of syllables. Manipulations in songbirds have helped to elucidate the role of this gene in vocal learning, but findings in non-human mammals have been limited or inconclusive. Here, we performed a systematic study of ultrasonic vocalizations (USVs) of adult male mice carrying the KE family mutation. Using novel statistical tools, we found that Foxp2 heterozygous mice did not have detectable changes in USV syllable acoustic structure, but produced shorter sequences and did not shift to more complex syntax in social contexts where wildtype animals did. Heterozygous mice also displayed a shift in the position of their rudimentary laryngeal motor cortex (LMC) layer-5 neurons. Our findings indicate that although mouse USVs are mostly innate, the underlying contributions of FoxP2 to sequencing of vocalizations are conserved with humans.

  10. [A case of Creutzfeldt-Jakob disease presenting with arm levitation as an initial symptom].

    Science.gov (United States)

    Kamogawa, Kenji; Ninomiya, Satoko; Okuda, Shinya; Matsumoto, Yushi; Tomita, Hitomi; Okamoto, Kensho; Okuda, Bungo

    2014-01-01

    A 74-year-old, right handed man, developed insidiously with levitation and clumsiness of the right upper limb. His right arm tended to levitate spontaneously, when he was examined. He could put the elevated arm down on command, while the arm resumed to antigravity posture when his attention was diverted. His right arm also exhibited unwilled elevation when performing complex finger movements on the right side. He had a feeling of strangeness of the elevated limb, especially with the eyes closed. In addition to asymmetric limb-kinetic apraxia, combined sensations such as stereognosis were disturbed on the right side. Brain MRI showed high signal lesions predominantly in the left cerebral cortices and basal ganglia. SPECT with (123)I-IMP revealed asymmetric hypoperfusion, predominantly in the left medial frontal and parietal regions. Two months after the onset, levitation of the arm gradually disappeared, with the development of rapidly progressive dementia, frontal signs, dystonia and generalized myoclonus. The diagnosis of Creutzfeldt-Jakob disease (CJD) was made based on the clinical features and cerebrospinal fluid biomarkers. The early manifestation of the patient mimicked corticobasal degeneration which presents with arm levitation or alien hand syndrome. It is suggested that CJD can represent involuntary movements with higher brain dysfunction resembling corticobasal degeneration at the early stage of the illness. Although the underlying mechanism of arm levitation is still unknown, frontal disinhibition and parietal cortical sensory disturbance may contribute to the development of involuntary arm levitation in our patient.

  11. A novel tablet computer platform for advanced language mapping during awake craniotomy procedures.

    Science.gov (United States)

    Morrison, Melanie A; Tam, Fred; Garavaglia, Marco M; Golestanirad, Laleh; Hare, Gregory M T; Cusimano, Michael D; Schweizer, Tom A; Das, Sunit; Graham, Simon J

    2016-04-01

    A computerized platform has been developed to enhance behavioral testing during intraoperative language mapping in awake craniotomy procedures. The system is uniquely compatible with the environmental demands of both the operating room and preoperative functional MRI (fMRI), thus providing standardized testing toward improving spatial agreement between the 2 brain mapping techniques. Details of the platform architecture, its advantages over traditional testing methods, and its use for language mapping are described. Four illustrative cases demonstrate the efficacy of using the testing platform to administer sophisticated language paradigms, and the spatial agreement between intraoperative mapping and preoperative fMRI results. The testing platform substantially improved the ability of the surgeon to detect and characterize language deficits. Use of a written word generation task to assess language production helped confirm areas of speech apraxia and speech arrest that were inadequately characterized or missed with the use of traditional paradigms, respectively. Preoperative fMRI of the analogous writing task was also assistive, displaying excellent spatial agreement with intraoperative mapping in all 4 cases. Sole use of traditional testing paradigms can be limiting during awake craniotomy procedures. Comprehensive assessment of language function will require additional use of more sophisticated and ecologically valid testing paradigms. The platform presented here provides a means to do so. PMID:26473779

  12. Fiabilidad del Instrumento de Evaluación Neuropsicológica Breve Neupsilin

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    Josiane Pawlowski

    2013-01-01

    Full Text Available La investigación examinó la fiabilidad del Instrumento de Evaluación Neuropsicológica Breve Neupsilin, desarrollado en Brasil. Participaron 102 hombres y mujeres brasileños, de 18 a 40 años de edad. Se evaluó la fiabilidad del test-retest del Neupsilin y de la corrección, por distintos evaluadores, de la prueba para evaluación de apraxia constructiva. Se analizaron los datos con: el test de correlación de Spearman, el coeficiente de correlación intraclase y el coeficiente alpha de Cronbach. Las habilidades de lenguaje, memoria, praxias y funciones ejecutivas presentaron las más altas correlaciones para los resultados del test-retest. Se encontró una concordancia de moderada a alta entre los correctores de la tarea de praxia constructiva. Los resultados indicaron fiabilidad temporal para las tareas evaluadas por el Neupsilin y fiabilidad del corrector para la tarea praxia constructiva. Se presentan sugerencias para perfeccionar las tareas y mejorar la fiabilidad y la validez de la prueba.

  13. Cerebral Metastasis from a Previously Undiagnosed Appendiceal Adenocarcinoma

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    Antonio Biroli

    2012-01-01

    Full Text Available Brain metastases arise in 10%–40% of all cancer patients. Up to one third of the patients do not have previous cancer history. We report a case of a 67-years-old male patient who presented with confusion, tremor, and apraxia. A brain MRI revealed an isolated right temporal lobe lesion. A thorax-abdomen-pelvis CT scan showed no primary lesion. The patient underwent a craniotomy with gross-total resection. Histopathology revealed an intestinal-type adenocarcinoma. A colonoscopy found no primary lesion, but a PET-CT scan showed elevated FDG uptake in the appendiceal nodule. A right hemicolectomy was performed, and the specimen showed a moderately differentiated mucinous appendiceal adenocarcinoma. Whole brain radiotherapy was administrated. A subsequent thorax-abdomen CT scan revealed multiple lung and hepatic metastasis. Seven months later, the patient died of disease progression. In cases of undiagnosed primary lesions, patients present in better general condition, but overall survival does not change. Eventual identification of the primary tumor does not affect survival. PET/CT might be a helpful tool in detecting lesions of the appendiceal region. To the best of our knowledge, such a case was never reported in the literature, and an appendiceal malignancy should be suspected in patients with brain metastasis from an undiagnosed primary tumor.

  14. High-resolution nuclear magnetic resonance imaging and single photon emission computerized tomography--cerebral blood flow in a case of pure sensory stroke and mild dementia owing to subcortical arteriosclerotic encephalopathy (Binswanger's disease)

    Energy Technology Data Exchange (ETDEWEB)

    De Chiara, S.; Lassen, N.A.; Andersen, A.R.; Gade, A.; Lester, J.; Thomsen, C.; Henriksen, O.

    1987-01-01

    Pure sensory stroke (PSS) is typically caused by a lacunar infarct located in the ventral-posterior (VP) thalamic nucleus contralateral to the paresthetic symptoms. The lesion is usually so small that it cannot be seen on computerized tomography (CT), as illustrated by our case. In our moderately hypertensive, 72-year-old patient with PSS, CT scanning and conventional nuclear magnetic resonance imaging (NMRI) scanning using a 7-mm-thick slice on a 1.5 Tesla instrument all failed to visualize the thalamic infarct. Using the high-resolution mode with 2-mm slice thickness it was, however, clearly seen. In addition, NMRI unexpectedly showed diffuse periventricular demyelinization as well as three other lacunar infarcts, i.e., findings characteristic of subcortical arteriosclerotic encephalopathy (SAE). This prompted psychometric testing, which revealed signs of mild (subclinical) dementia, in particular involving visiospatial apraxia; this pointed to decreased function of the right parietal cortex, which was structurally intact on CT and NMRI. Single photon emission computerized tomography by Xenon-133 injection and by hexamethyl-propyleneamine-oxim labeled with Technetium-99m showed asymmetric distribution of cerebral blood flow (CBF), with an 18% lower value in the right parietal cortex compared to the left side; this indicated asymmetric disconnection of the cortex by the SAE. Thus, the tomograms of the functional parameter, CBF, correlated better with the deficits revealed by neuropsychological testing than by CT or NMRI.

  15. 突发性纯词哑病1例

    Institute of Scientific and Technical Information of China (English)

    于增志; 姜树军

    2000-01-01

    @@纯词哑(aphemia)又称构音性失用(phonetic apraxia)或言语讷吃(anarthria).在临床上真正的纯词哑是一种相当罕见且独特的言语障碍临床综合征[1],通常由于脑血管病影响左半球次级运动前皮质所致.此类患者口语表达能力严重障碍而文字表达及理解等其它语言功能均正常.笔者检索了国内、外近10年有关纯词哑的文献,国外关于这方面的研究相对较多[1,4,5],而国内期刊尚无文献报道.本院收治1例纯词哑患者,报告如下.

  16. R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias.

    Directory of Open Access Journals (Sweden)

    Abrey J Yeo

    Full Text Available Disruption of the Setx gene, defective in ataxia oculomotor apraxia type 2 (AOA2 leads to the accumulation of DNA/RNA hybrids (R-loops, failure of meiotic recombination and infertility in mice. We report here the presence of R-loops in the testes from other autosomal recessive ataxia mouse models, which correlate with fertility in these disorders. R-loops were coincident in cells showing high basal levels of DNA double strand breaks and in those cells undergoing apoptosis. Depletion of Setx led to high basal levels of R-loops and these were enhanced further by DNA damage both in vitro and in vivo in tissues with proliferating cells. There was no evidence for accumulation of R-loops in the brains of mice where Setx, Atm, Tdp1 or Aptx genes were disrupted. These data provide further evidence for genome destabilization as a consequence of disrupted transcription in the presence of DNA double strand breaks arising during DNA replication or recombination. They also suggest that R-loop accumulation does not contribute to the neurodegenerative phenotype in these autosomal recessive ataxias.

  17. Lesion localization in aphasia without hemiparesis

    Energy Technology Data Exchange (ETDEWEB)

    Komatsu, Midori; Senoh, Yoko; Okamoto, Koichi; Morimatsu, Mitsunori; Hirai, Shunsaku (Gunma Univ., Maebashi (Japan). School of Medicine)

    1983-06-01

    The distribution of the lesions responsible for aphasia unassociated with right-sided hemiparesis was evaluated by cranial computed tomography (CT) among stroke patients. In the Broca aphasia group were observed atypical aphasic symptoms, and the lesions were far more localized than in ordinary Broca one. In the Wernicke aphasia group showed relatively large lesions in the left superior temporal gyrus, sometimes extending to supramarginal and angular gyri, which caused such additional symptoms as apraxia without motor paresis in some cases. In the Transcortical motor aphasia group showed the occlusion of the left internal carotid artery, though without obvious abnormality at CT. In another patient a circumscribed low density lesion was disclosed in the area anterior and superior to so-called Broca's area. In the Transcortical sensory aphasia group, the lesion involved the borderzone supplied by the left middle and posterior cerebral arteries. In the Amnestic aphasia group showed a lesion in the left parietal lobe, while in another no remarkable change was demonstrated. In the Global aphasia group, one had multiple isolated lesions in both anterior and posterior speech areas. Another showed a large lesion involving the whole territory of the left middle cerebral artery. In the remaining one a high density area was observed in the left superior temporal, supramarginal and angular gyri, not extending to the frontal lobe beyond with sylvian fissure. Therefore, in interpreting CTs of such aphasic patients we must take account of not only the extent of the lesion but also the severity of destruction.

  18. Aprataxin resolves adenylated RNA–DNA junctions to maintain genome integrity

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    Tumbale, Percy [National Inst. of Environmental Health Sciences, Research Triangle Park, NC (United States). Lab. of Structural Biology; Williams, Jessica S. [National Inst. of Environmental Health Sciences, Research Triangle Park, NC (United States). Lab. of Structural Biology; Schellenberg, Matthew J. [National Inst. of Environmental Health Sciences, Research Triangle Park, NC (United States). Lab. of Structural Biology; Kunkel, Thomas A. [National Inst. of Environmental Health Sciences, Research Triangle Park, NC (United States). Lab. of Structural Biology and Lab. of Molecular Genetics; Williams, R. Scott [National Inst. of Environmental Health Sciences, Research Triangle Park, NC (United States). Lab. of Structural Biology and Lab. Molecular Genetics

    2013-12-22

    Faithful maintenance and propagation of eukaryotic genomes is ensured by three-step DNA ligation reactions used by ATP-dependent DNA ligases. Paradoxically, when DNA ligases encounter nicked DNA structures with abnormal DNA termini, DNA ligase catalytic activity can generate and/or exacerbate DNA damage through abortive ligation that produces chemically adducted, toxic 5'-adenylated (5'-AMP) DNA lesions. Aprataxin (APTX) reverses DNA adenylation but the context for deadenylation repair is unclear. Here we examine the importance of APTX to RNase-H2-dependent excision repair (RER) of a lesion that is very frequently introduced into DNA, a ribonucleotide. We show that ligases generate adenylated 5' ends containing a ribose characteristic of RNase H2 incision. APTX efficiently repairs adenylated RNA–DNA, and acting in an RNA–DNA damage response (RDDR), promotes cellular survival and prevents S-phase checkpoint activation in budding yeast undergoing RER. Structure–function studies of human APTX–RNA–DNA–AMP–Zn complexes define a mechanism for detecting and reversing adenylation at RNA–DNA junctions. This involves A-form RNA binding, proper protein folding and conformational changes, all of which are affected by heritable APTX mutations in ataxia with oculomotor apraxia 1. Together, these results indicate that accumulation of adenylated RNA–DNA may contribute to neurological disease.

  19. Neural Control of Voluntary Eye Closure: A Case Study and an fMRI Investigation of Blinking and Winking

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    Martijn G. van Koningsbruggen

    2012-01-01

    Full Text Available The current paper describes a rare case of a patient who suffered from unilateral apraxia of eye closure as a result of a bilateral stroke. Interestingly, the patient’s ability to voluntarily close both eyelids (i.e. blinking was not affected, indicating that different neural mechanisms control each type of eye closure. The stroke caused damage to a large part of the right frontal cortex, including the motor cortex, pre-motor cortex and the frontal eye field (FEF. The lesion in the left hemisphere was restricted to the FEF. In order to further study the neural mechanisms of eye closure, we conducted an fMRI study in a group of neurological healthy subjects. We found that all areas of the oculomotor cortex were activated by both left and right winking, including the FEF, supplementary eye field (SEF, and posterior parietal cortex (PPC. Blinking activated FEF and SEF, but not PPC. Both FEF and PPC were significantly more active during winking than blinking. Together, these results provide evidence for a critical role of the FEF in voluntary unilateral eye closure.

  20. Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing.

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    Olivier J Becherel

    2013-04-01

    Full Text Available Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2, plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at two stages in meiosis during crossing-over in homologous recombination and in meiotic sex chromosome inactivation (MSCI. Disruption of the Setx gene caused persistence of DNA double-strand breaks, a defect in disassembly of Rad51 filaments, accumulation of DNA:RNA hybrids (R-loops, and ultimately a failure of crossing-over. Senataxin localised to the XY body in a Brca1-dependent manner, and in its absence there was incomplete localisation of DNA damage response proteins to the XY chromosomes and ATR was retained on the axial elements of these chromosomes, failing to diffuse out into chromatin. Furthermore persistence of RNA polymerase II activity, altered ubH2A distribution, and abnormal XY-linked gene expression in Setx⁻/⁻ revealed an essential role for senataxin in MSCI. These data support key roles for senataxin in coordinating meiotic crossing-over with transcription and in gene silencing to protect the integrity of the genome.

  1. Fenótipo Rett em paciente com cariótipo XXY: relato de caso

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    SCHWARTZMAN JOSÉ SALOMÃO

    1998-01-01

    Full Text Available Relatamos o caso de um menino com cariótipo XXY que apresenta desordem neurológica progressiva com início por volta dos 11 meses de idade, com estagnação do desenvolvimento seguida de regressão. A criança apresenta, ainda, movimentos estereotipados de mãos, apraxia manual e microcefalia. Investigações não constataram presença de qualquer condição neurológica ou sistêmica definida que pudesse ser apontada como possível etiologia para o quadro descrito. Trata-se de menino com alterações fenotípicas muito similares àquelas consideradas típicas para a síndrome de Rett que, associadas com a alteração cromossômica constatada (cariótipo XXY, constituem quadro de evidente interesse científico.

  2. TOOL USE DISORDERS AFTER LEFT BRAIN DAMAGE

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    Josselin eBaumard

    2014-05-01

    Full Text Available In this paper we review studies that investigated tool use disorders in left-brain damaged (LBD patients over the last thirty years. Four tasks are classically used in the field of apraxia: Pantomime of tool use, single tool use, real tool use and mechanical problem solving. Our aim was to address two issues, namely, (1 the role of mechanical knowledge in real tool use and (2 the cognitive mechanisms underlying pantomime of tool use, a task widely employed by clinicians and researchers. To do so, we extracted data from 36 papers and computed the difference between healthy subjects and LBD patients. On the whole, pantomime of tool use is the most difficult task and real tool use is the easiest one. Moreover, associations seem to appear between pantomime of tool use, real tool use and mechanical problem solving. These results suggest that the loss of mechanical knowledge is critical in LBD patients, even if all of those tasks (and particularly pantomime of tool use might put differential demands on semantic memory and working memory.

  3. Senataxin controls meiotic silencing through ATR activation and chromatin remodeling.

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    Yeo, Abrey J; Becherel, Olivier J; Luff, John E; Graham, Mark E; Richard, Derek; Lavin, Martin F

    2015-01-01

    Senataxin, defective in ataxia oculomotor apraxia type 2, protects the genome by facilitating the resolution of RNA-DNA hybrids (R-loops) and other aspects of RNA processing. Disruption of this gene in mice causes failure of meiotic recombination and defective meiotic sex chromosome inactivation, leading to male infertility. Here we provide evidence that the disruption of Setx leads to reduced SUMOylation and disruption of protein localization across the XY body during meiosis. We demonstrate that senataxin and other DNA damage repair proteins, including ataxia telangiectasia and Rad3-related protein-interacting partner, are SUMOylated, and a marked downregulation of both ataxia telangiectasia and Rad3-related protein-interacting partner and TopBP1 leading to defective activation and signaling through ataxia telangiectasia and Rad3-related protein occurs in the absence of senataxin. Furthermore, chromodomain helicase DNA-binding protein 4, a component of the nucleosome remodeling and deacetylase chromatin remodeler that interacts with both ataxia telangiectasia and Rad3-related protein and senataxin was not recruited efficiently to the XY body, triggering altered histone acetylation and chromatin conformation in Setx (-/-) pachytene-staged spermatocytes. These results demonstrate that senataxin has a critical role in ataxia telangiectasia and Rad3-related protein- and chromodomain helicase DNA-binding protein 4-mediated transcriptional silencing and chromatin remodeling during meiosis providing greater insight into its critical role in gene regulation to protect against neurodegeneration. PMID:27462424

  4. Adult-onset phenylketonuria with rapidly progressive dementia and parkinsonism.

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    Tufekcioglu, Zeynep; Cakar, Arman; Bilgic, Basar; Hanagasi, Hasmet; Gurvit, Hakan; Emre, Murat

    2016-06-01

    Phenylketonuria (PKU) is an autosomal recessive metabolic disorder due to mutations in the phenylalanine hydroxylase (PAH) gene, which converts phenylalanine (PHE) to tyrosine. Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases. Here we report a 59-year-old, previously normal functioning man who was admitted with blurred vision, cognitive problems, and gait difficulty that began 8 months before. He had brisk reflexes and left side dominant parkinsonism. His Mini-Mental State Examination (MMSE) score was 25/30, and neuropsychological evaluation revealed a dysexecutive syndrome with simultanagnosia and constructional apraxia. His Clinical Dementia Rating score (CDR) was 1. Cranial MRI revealed bilateral diffuse hyperintense lesions in parietal and occipital white matter in T2, fluid-attenuated inversion recovery, and diffusion weighted images. Diagnostic workup for rapidly progressive dementias was all normal except PHE level which was found to be highly elevated (1075 μmol/L, normal 39-240 μmol/L) with normal tyrosine level (61.20 μmol/L, normal 35-100 μmol/L). Three months after PHE-restricted diet, his cognitive impairment and signs of parkinsonism significantly improved, with MRI scan unchanged. This case demonstrates that late-onset PKU is a rare, treatable cause of rapidly progressive dementia and parkinsonism with certain constellations such as consanguinity and white matter abnormalities (WMAs) in imaging. PMID:26962957

  5. Critical appraisal of the long-term impact of memantine in treatment of moderate to severe Alzheimer’s disease

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    Umamon Puangthong

    2009-10-01

    Full Text Available Umamon Puangthong, Ging-Yuek Robin HsiungDivision of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC, CanadaAbstract: Alzheimer’s disease is the most common cause of dementia in older adults. The clinical features include progressive memory decline as well as cognitive deficits with executive dysfunction, language, visual perceptual difficulties, apraxia and agnosia. During the moderate to severe stage of the disease, there is a major decline in memory and function, while neuropsychiatric disturbances often emerge and patients become difficult to manage. These distressing symptoms increase caregiver burden and add to the direct costs of care of the patients. Any improvements in patient function and behavioral symptoms can reduce caregiver burden. Memantine has been available for a number of years in Europe and in North America. In this article, we examine the pharmacological rationale for its use, and the current clinical evidence for its efficacy and long-term effectiveness in the management of cognitive and behavioral symptoms in moderate to severe stages of Alzheimer’s disease.Keywords: memantine, Alzheimer’s disease, dementia

  6. Can patients without early, prominent visual deficits still be diagnosed of posterior cortical atrophy?

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    Suárez-González, A.; Crutch, S.J.; Roldán Lora, F.; Franco-Macías, E.; Gil-Néciga, E.

    2016-01-01

    Background Early and progressive disabling visual impairment is a core feature for the diagnosis of posterior cortical atrophy (PCA). However, some individuals that fulfil criteria over time might initially present with an onset of prominent posterior dysfunction other than visuoperceptual. Methods The clinical profile of five patients with a predominantly ‘non-visual’ posterior presentation (PCA2) was investigated and compared with sixteen individuals with visually predominant PCA (PCA1) and eighteen with typical amnestic Alzheimer disease (tAD). Results PCA2 patients showed significantly better performance than PCA1 in one visuospatial task and were free of Balint's syndrome and visual agnosia. Compared to tAD, PCA2 showed trends towards significantly lower performance in visuoperceptual tasks, more severe apraxia and more symptoms of Gerstmann's syndrome. Conclusions Our sample of PCA2 patients did not present with clinically prominent visual symptoms but did show visual dysfunction on formal neuropsychological assessment (less pronounced than in PCA1 but more than in tAD) in addition to other posterior deficits. Broadening the definition of PCA to encompass individuals presenting with prominent ‘non-visual’ posterior dysfunction should be potentially considered in clinical and research contexts. PMID:27423559

  7. Clinical and genetic features of ataxia-telangiectasia

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    Bundey, S. [Birmingham Maternity Hospital (United Kingdom). Clinical Genetics Unit

    1994-12-01

    There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomoto apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplo-types of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J.H. Edwards` hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed. (author).

  8. Reducing Aβ load and tau phosphorylation: Emerging perspective for treating Alzheimer's disease.

    Science.gov (United States)

    Kalra, Jaspreet; Khan, Aamir

    2015-10-01

    Alzheimer's disease (AD) is a complex, progressive neurological disorder affecting elderly population of above 65 years of age, characterized by failure of memory, loss of acquired skills leading to apraxia, agnosia, aphasia and frequent disturbances in emotion with interpersonal and social deterioration. The extracellular senile plaques and intracellular neurofibrillary tangles composed of amyloid beta protein and highly phosphorylated tau protein, the key components involved in pathogenesis of AD are considered as the pathological hallmark of this disease. This has led to immense development in the field of treatment for AD. Recent evidences suggest that removal of protein deposits from AD brains are the newer attempts for treating AD. The major developments in this direction are the amyloid and tau based therapeutics, which could hold the key to treatment of AD in the near future. Several putative drugs have been thoroughly investigated in preclinical studies, but many of them have failed to produce results in the clinical scenario. Therefore, failures from the past can be treated as lessons for the development of efficacious drugs. In addition to this, various non- pharmacological interventions and miscellaneous drugs are also being used now for combating the AD like disease progression. Thus, present review discusses about the disease modifying therapies together with the various non-pharmacological interventions and miscellaneous drugs for treating AD. PMID:26209363

  9. The evolution of alexia and simultanagnosia in posterior cortical atrophy.

    Science.gov (United States)

    Mendez, M F; Cherrier, M M

    1998-04-01

    Early alexia and higher visual impairments characterize Posterior cortical atrophy (PCA), a progressive dementing syndrome most often caused by Alzheimer disease. Posterior cortical atrophy is rare, and the nature of the visual impairments in PCA are unclear. The authors observed two patients who had an insidiously progressive reading difficulty characterized by letter-by-letter reading and otherwise intact cognitive functions. Over time, these patients developed "ventral simultanagnosia" with preserved detection of multiple stimuli but inability to interpret whole scenes. Subsequently, they progressed to Balint syndrome with "dorsal simultanagnosia," optic ataxia, and oculomotor apraxia. Structural imaging was normal, but functional imaging revealed posterior cortical dysfunction. On a letter reading task, both patients had a word superiority effect, and on a whole word reading task, they could not read most words with missing or crosshatched letters. An inability to assess whole scenes progressed to an inability to detect more than one stimulus in an array. These findings suggest an evolution of PCA with progressive difficulty in visual integration beginning with letters, progressing to whole scenes, and culminating in Balint syndrome. These changes may reflect an extension of the pathophysiology of PCA from the extrastriate visual cortex to its occipitotemporal and occipitoparietal connections. PMID:9652488

  10. Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.

    Science.gov (United States)

    Schellenberg, Matthew J; Tumbale, Percy P; Williams, R Scott

    2015-03-01

    Eukaryotic DNA ligases seal DNA breaks in the final step of DNA replication and repair transactions via a three-step reaction mechanism that can abort if DNA ligases encounter modified DNA termini, such as the products and repair intermediates of DNA oxidation, alkylation, or the aberrant incorporation of ribonucleotides into genomic DNA. Such abortive DNA ligation reactions act as molecular checkpoint for DNA damage and create 5'-adenylated nucleic acid termini in the context of DNA and RNA-DNA substrates in DNA single strand break repair (SSBR) and ribonucleotide excision repair (RER). Aprataxin (APTX), a protein altered in the heritable neurological disorder Ataxia with Oculomotor Apraxia 1 (AOA1), acts as a DNA ligase "proofreader" to directly reverse AMP-modified nucleic acid termini in DNA- and RNA-DNA damage responses. Herein, we survey APTX function and the emerging cell biological, structural and biochemical data that has established a molecular foundation for understanding the APTX mediated deadenylation reaction, and is providing insights into the molecular bases of APTX deficiency in AOA1. PMID:25637650

  11. Melodic Intonation Therapy: Back to Basics for Future Research

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    Anna eZumbansen

    2014-01-01

    Full Text Available We present a critical review of the literature on Melodic intonation therapy (MIT, one of the most formalized treatments used by speech-language therapist in Broca’s aphasia. We suggest basic clarifications to enhance the scientific support of this promising treatment. First, MIT is a program, not a single speech facilitation technique. The goal of MIT is to restore propositional speech. The rational is that patients can learn a new way to speak through singing by using language-capable regions of the right cerebral hemisphere. We argue that many treatment programs covered in systematic reviews on MIT’s efficacy do not match MIT’s therapeutic goal and rationale. Second, we distinguish between the immediate effect of MIT’s main speech facilitation technique (i.e., intoned-speech and the effect of the entire program on language recovery. Many results in the MIT literature can be explained by this duration factor. Finally, we propose that MIT can be viewed as a treatment of apraxia of speech more than aphasia. This issue should be explored in future experimental studies.

  12. Loss in Executive Functioning Best Explains Changes in Pain Responsiveness in Patients with Dementia-Related Cognitive Decline

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    Miriam Kunz

    2015-01-01

    Full Text Available There is ample evidence that dementia changes the processing of pain. However, it is not known whether this change in pain processing is related to the general decline in cognitive functioning or whether it may be related to specific domains of cognitive functioning. With the present study we tried to answer this question. We assessed different cognitive domains (orientation, memory, abstract thinking/executive function, aphasia and apraxia, and information processing speed in 70 older patients with cognitive impairment (mild cognitive impairment up to moderate degrees of dementia. Pain responsiveness was assessed by measuring the nociceptive flexion reflex (NFR threshold and facial responses to noxious electrical stimulation. Using regression analyses, we assessed which domain of cognitive functioning best predicted variance in pain responsiveness. Variance in pain responsiveness (NFR and facial expressions was best explained by those items assessing executive functioning even when controlling for overall cognitive performance and memory functioning. The close association between executive functioning and pain responsiveness suggests that dementia-related neurodegeneration in prefrontal areas might result not only in reduced executive functioning but also in a loss of pain inhibitory potency, rendering the patient more vulnerable to pain. Our findings also suggest that pain assessment in dementia should be regularly completed by tests of cognitive functions.

  13. Nonfluent/Agrammatic PPA with In-Vivo Cortical Amyloidosis and Pick’s Disease Pathology

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    Francesca Caso

    2013-01-01

    Full Text Available The role of biomarkers in predicting pathological findings in the frontotemporal dementia (FTD clinical spectrum disorders is still being explored. We present comprehensive, prospective longitudinal data for a 66 year old, right-handed female who met current criteria for the nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA. She first presented with a 3-year history of progressive speech and language impairment mainly characterized by severe apraxia of speech. Neuropsychological and general motor functions remained relatively spared throughout the clinical course. Voxel-based morphometry (VBM showed selective cortical atrophy of the left posterior inferior frontal gyrus (IFG and underlying insula that worsened over time, extending along the left premotor strip. Five years after her first evaluation, she developed mild memory impairment and underwent PET-FDG and PiB scans that showed left frontal hypometabolism and cortical amyloidosis. Three years later (11 years from first symptom, post-mortem histopathological evaluation revealed Pick's disease, with severe degeneration of left IFG, mid-insula, and precentral gyrus. Alzheimer’s disease (AD (CERAD frequent/Braak Stage V was also detected. This patient demonstrates that biomarkers indicating brain amyloidosis should not be considered conclusive evidence that AD pathology accounts for a typical FTD clinical/anatomical syndrome.

  14. The right cerebral hemisphere: emotion, music, visual-spatial skills, body-image, dreams, and awareness.

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    Joseph, R

    1988-09-01

    Based on a review of numerous studies conducted on normal, neurosurgical and brain-injured individuals, the right cerebral hemisphere appears to be dominant in the perception and identification of environmental and nonverbal sounds; the analysis of geometric and visual space (e.g., depth perception, visual closure); somesthesis, stereognosis, the maintenance of the body image; the production of dreams during REM sleep; the perception of most aspects of musical stimuli; and the comprehension and expression of prosodic, melodic, visual, facial, and verbal emotion. When the right hemisphere is damaged a variety of cognitive abnormalities may result, including hemi-inattention and neglect, prosopagnosia, constructional apraxia, visual-perceptual disturbances, and agnosia for environmental, musical, and emotional sounds. Similarly, a myriad of affective abnormalities may occur, including indifference, depression, hysteria, gross social-emotional disinhibition, florid manic excitement, childishness, euphoria, impulsivity, and abnormal sexual behavior. Patients may become delusional, engage in the production of bizzare confabulations and experience a host of somatic disturbances such as pain and body-perceptual distortions. Based on studies of normal and "split-brain" functioning, it also appears that the right hemisphere maintains a highly developed social-emotional mental system and can independently perceive, recall and act on certain memories and experiences without the aid or active reflective participation of the left. This leads to situations in which the right and left halves of the brain sometime act in an uncooperative fashion, which gives rise to inter-manual and intra-psychic conflicts. PMID:2461390

  15. Related or not? Development of spontaneous Creutzfeldt–Jakob disease in a patient with chronic, well-controlled HIV: A case report and review of the literature

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    Babi, M-Alain; Kraft, Bryan D; Sengupta, Sweta; Peterson, Haley; Orgel, Ryan; Wegermann, Zachary; Lugogo, Njira L; Luedke, Matthew W

    2016-01-01

    Background: We report a novel case of a rare disease: spontaneous Creutzfeldt–Jakob disease in a patient with well-controlled HIV. We explore the relationship between spontaneous Creutzfeldt–Jakob disease and HIV. Case report: A 66-year-old man with long-standing, well-controlled HIV infection presented with 3 months of progressive, subacute neurocognitive decline. His symptoms included conceptual apraxia, apathy, memory impairment, and gait disturbance, and were initially attributed to depressive “pseudo-dementia.” Unfortunately, the patient’s symptoms rapidly progressed and he ultimately succumbed to his illness. Autopsy confirmed the clinical diagnosis of spontaneous Creutzfeldt–Jakob disease. Discussion: This case highlights spontaneous Creutzfeldt–Jakob disease as a rare terminal illness in the setting of well-controlled chronic HIV. To our knowledge, this is the first report of a patient with chronic and previously well-controlled HIV infection dying from a prion disease. Despite the very different epidemiology and pathophysiology of HIV and spontaneous Creutzfeldt–Jakob disease, this case does raise questions of whether certain host genetic factors could predispose to both conditions, albeit currently, there is no clear causal link between HIV and spontaneous Creutzfeldt–Jakob disease.

  16. Cerebral blood flow and metabolism analysis in parkinsonian disorders; Pathologie extrapyramidale. Apport de l'imagerie de perfusion et du metabolisme (TEP, TEM)

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    Defebvre, L. [Hopital Roger Salengro, Service de Neurologie, 59 - Lille (France)

    1999-12-01

    Main metabolic and hemodynamic abnormalities detected by single photon emission computerized tomography and positron emission tomography in extra-pyramidal disorders are reported. In the first stage of Parkinson's disease, cortical metabolism and perfusion can be in normal range or moderately and uniformly reduced. A significant decrease may appear with the disease evolution. Marked abnormalities are observed in parkinsonian patients with dementia (subcortical dementia), involving especially the frontal cortex. A marked diffuse cortical hypo-metabolism (temporal, parietal, occipital and frontal cortex) may suggest the diagnosis of dementia with Lewy bodies, especially in case of fluctuating cognitive decline with recurrent visual hallucinations. In progressive supra-nuclear palsy, a frontal cortex hypo-metabolism is reported precociously, preceding sometimes the cognitive impairment. Metabolic pattern find in multiple system atrophy reflects dysfunction of both nigrostriatal pathways and striatum, with a decrease glucose uptake in putamen and caudate nucleus which also involves cerebellum for the patients with cerebellar syndrome. In cortico-basal degeneration, asymmetric fronto-parietal and striatal hypo-metabolism observed in the controlateral hemisphere to the clinically most affected side, constitute the main characteristic well correlated with apraxia. (author)

  17. 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.

  18. Ataxia-telangiectasia. (Clinical and immunological aspects).

    Science.gov (United States)

    Boder, E; Sedgwick, R P

    1970-01-01

    This syndrome was defined by the authors in 1947. Earlier publications of similar disease descriptions were by Syllaba and Henner (1926), Louis-Bar (1941). The authors at present have a stock of 253 cases. The cardinal symptoms of this phakomatosis are: Cerebellar ataxia which begin in infancy and take a slowly progressive course. In the late stages free walking and standing are no longer possible. Progressive atactic speech disorders, cerebellar atrophy in the pneumoencephalogram. Slowly progressing symmetrical skin and mucosal telangiectasia in the face and especially on the conjunctivae at the age of 3 to 6 years. Relapsing sinopulmonary infections with a tendency toward the development of bronchiectases. Apraxia of eye movements. Atrophy of facial skin and premature graying of hair. Recessively hereditary disorder with a high familial manifestation. This syndrome combines the spinocerebellar degeneration, phakomatoses, and infantile dementia processes. Such other conditions as abnormity or absence of thymus, reduction in gamma globulins, amino-aciduria, autosomal-recessive inheritance suggest a genetically determined "error of metabolism".

  19. Functional MRT in psychiatry and neurology. 2. rev. and upd. ed.; Funktionelle MRT in Psychiatrie und Neurologie

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    Schneider, Frank [Universitaetsklinikum Aachen (Germany); Fink, Gereon R. (eds.) [Forschungszentrum Juelich GmbH (Germany); Uniklinik Koeln (Germany)

    2013-08-01

    The book on functional MRT in psychiatry and neurology covers the following topics: (I) Fundamentals: functional neuro-anatomy, fundamentals of NMR imaging, basic research on the clinical use for diagnostics and therapy; basics of morphometry; real-time fMRT, planning and execution of experimental paradigms; data analysis and statistics; reliability and quality of fMRT experiments; eye movement, neuropharmacologic functional imaging, gender dependent effects, age dependent effects, resting state fMRT; meta analyses. (II) Higher brain achievements: movement and action, perception and attention, visual system and object processing, auditory system, executive functions, somatosensoric system, memory, learning and gratification system, functional neuro-anatomy of speech, number processing and calculation, connectivity, social cognition, emotions, olfactory system, functional imaging in the pain research. (III) Disease pattern: dystonia, Parkinson syndrome, Chorea Huntington, aphasia, apraxia, neglect, amnesia, function recovery following apoplexy, schizophrenia, affective disturbances, anxiety and fear, post-traumatic disturbances, hyperactivity syndrome, personality disorder. (IV) Working tools: brain atlas, tool for integrated analyses of structure, functionality and connectivity (SPM anatomy toolbox).

  20. Impairment-oriented training (IOT)--scientific concept and evidence-based treatment strategies.

    Science.gov (United States)

    Platz, T

    2004-01-01

    Everyday activities can be affected by many different body dysfunctions (impairments). A multi-modal analysis of electric brain activity revealed that movement-related brain activity is differentially altered in patients with different impairments, i.e. paresis, somatosensory deficits, and apraxia. Each body dysfunction has its own characteristics in terms of the resulting sensorimotor control deficits. The Impairment-oriented Training concept intends to characterise the resulting sensorimotor control deficits for each impairment. Based on such analyses two specific training techniques have been developed for stroke patients with mild and severe arm paresis: (1.) The Arm Ability training for mild arm paresis trains different sensorimotor abilities such as dexterity, speed of isolated hand and finger movements, steadiness, aiming, or tracking under visual guidance. Improvement of these motor abilities leads to improved motor performance in every day life circumstances. (2.) The Arm BASI S training for severe arm paresis intends to restore more basic motor control, i.e. the full range of active non-segmented motion of all limb segments, both postural activities and dynamic motion control, interjoint-coordination, and adequate motor control when external forces are applied. Clinical trials with representative study populations supported both techniques' clinical efficacy.

  1. Physical Therapy Intervention for Individuals with Rett Syndrome

    Directory of Open Access Journals (Sweden)

    Meir Lotan

    2006-01-01

    Full Text Available Individuals with Rett syndrome (RS present a vast array of orthopedic and neurological difficulties. Typical problems, which may need to be addressed, when treating this population are functional limitations, low cardiovascular capacity, hypotonia, ataxia, apraxia, loss of transitional movements, spasticity, scoliosis and/or kyphosis, loss of ambulation, loss of hand function, foot deformities, and spatial disorientation. Coping with such difficulties and overcoming the associated limitations carry a wearisome task for the individual with Rett as well as for her family. An informed and intensely applied physical therapy regime can help the child and the family cope and even overcome the above-mentioned limitations. The present article presents some insights regarding the intervention with individuals with RS, an overview of typical neuromuscular problems associated with RS, and appropriate suggestions pertaining to clinical intervention that have been found to contribute to this population’s well-being. The information presented is mainly based on the clinical knowledge of the authors.

  2. Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease

    Energy Technology Data Exchange (ETDEWEB)

    Tumbale, Percy; Appel, C Denise; Kraehenbuehl, Rolf; Robertson, Patrick D; Williams, Jessica S; Krahn, Joe; Ahel, Ivan; Williams, R Scott [NIEHS; (Manchester)

    2012-09-17

    DNA ligases finalize DNA replication and repair through DNA nick-sealing reactions that can abort to generate cytotoxic 5'-adenylation DNA damage. Aprataxin (Aptx) catalyzes direct reversal of 5'-adenylate adducts to protect genome integrity. Here the structure of a Schizosaccharomyces pombe Aptx-DNA-AMP-Zn2+ complex reveals active site and DNA interaction clefts formed by fusing a histidine triad (HIT) nucleotide hydrolase with a DNA minor groove-binding C2HE zinc finger (Znf). An Aptx helical 'wedge' interrogates the base stack for sensing DNA ends or DNA nicks. The HIT-Znf, the wedge and an '[F/Y]PK' pivot motif cooperate to distort terminal DNA base-pairing and direct 5'-adenylate into the active site pocket. Structural and mutational data support a wedge-pivot-cut HIT-Znf catalytic mechanism for 5'-adenylate adduct recognition and removal and suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie Aptx dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (AOA1).

  3. EFNS guidelines on cognitive rehabilitation: report of an EFNS task force.

    Science.gov (United States)

    Cappa, S F; Benke, T; Clarke, S; Rossi, B; Stemmer, B; van Heugten, C M

    2005-09-01

    Disorders of language, spatial perception, attention, memory, calculation and praxis are a frequent consequence of acquired brain damage [in particular, stroke and traumatic brain injury (TBI)] and a major determinant of disability. The rehabilitation of aphasia and, more recently, of other cognitive disorders is an important area of neurological rehabilitation. We report here a review of the available evidence about effectiveness of cognitive rehabilitation. Given the limited number and generally low quality of randomized clinical trials (RCTs) in this area of therapeutic intervention, the Task Force considered, besides the available Cochrane reviews, evidence of lower classes which was critically analysed until a consensus was reached. In particular, we considered evidence from small group or single cases studies including an appropriate statistical evaluation of effect sizes. The general conclusion is that there is evidence to award a grade A, B or C recommendation to some forms of cognitive rehabilitation in patients with neuropsychological deficits in the post-acute stage after a focal brain lesion (stroke, TBI). These include aphasia therapy, rehabilitation of unilateral spatial neglect (ULN), attentional training in the post-acute stage after TBI, the use of electronic memory aids in memory disorders, and the treatment of apraxia with compensatory strategies. There is clearly a need for adequately designed studies in this area, which should take into account specific problems such as patient heterogeneity and treatment standardization.

  4. Assessment of hand after brain damage with the aim of functional surgery.

    Science.gov (United States)

    Romain, M; Benaim, C; Allieu, Y; Pelissier, J; Chammas, M

    1999-01-01

    The semiology of the hand after brain damage is really rich. Its clinical evaluation remains quite difficult and must be integrated in the neuro-orthopedic and cognitive context. Deficiency, neuropsychological, analytic and functional status, must be assessed before any surgical decision aiming the improvement of prehension. Neuropsychological evaluation precise the hemispheric specialization: right hemisphere lesions conduct to unilateral spatial neglect while left hemispherical lesions determine language troubles and gesture impairment (apraxia). The analytical evaluation describes motor and sensitive function and assesses spasticity and pain. Concerning the functional assessment, the Enjalbert's score seems to be the most adapted to the upper limb. The assessment of hand deficiency and its origin is necessary to orientate the surgical decision and includes the Zancolli classification for the fingers and wrist and the House classification for the thumb. These classification used for cerebral palsy seems to be insufficient for all the different situations occurring after brain damage. A new classification is proposed based on 3 parameters: fingers extension, thumb abduction and supination. Surgical decision should be examined only after an adapted rehabilitation program.

  5. Tc-99m-bicisate (ECD)-brain-SPECT in rapidly progressive dementia

    International Nuclear Information System (INIS)

    We present a 61-year-old male patient with progressive dementia. A brain SPECT with Tc-99m-bicisate was performed for confirmation of clinically suspected Alzheimer-dementia. At the time of the SPECT-investigation marked apraxia and aphasia besides severe dementia were present. Electrophysiological as well as anatomical neuroimaging findings showed non-diagnostic alterations. SPECT revealed distinct perfusion defects, which made Alzheimer Dementia unlikely. The further course of the patient was determined by rapidly progressive deterioration with development of akinetic mutism. Thereafter, increased levels of neuron-specific enolase as well as 14-3-3 proteins were found in the cerebro-spinal fluid (CSF). The patient finally died with signs of cerebral decortication. Due to the clinical course and the CSF-findings the patient's final diagnosis was Creutzfeld-Jakob-disease, nevertheless no autopsy was performed. The presented case report underscores the clinical utility of perfusion brain SPECT in the differential diagnosis of dementias. (orig.)

  6. Distinctions between manipulation and function knowledge of objects: evidence from functional magnetic resonance imaging.

    Science.gov (United States)

    Boronat, Consuelo B; Buxbaum, Laurel J; Coslett, H Branch; Tang, Kathy; Saffran, Eleanor M; Kimberg, Daniel Y; Detre, John A

    2005-05-01

    A prominent account of conceptual knowledge proposes that information is distributed over visual, tactile, auditory, motor and verbal-declarative attribute domains to the degree to which these features were activated when the knowledge was acquired [D.A. Allport, Distributed memory, modular subsystems and dysphagia, In: S.K. Newman, R. Epstein (Eds.), Current perspectives in dysphagia, Churchill Livingstone, Edinburgh, 1985, pp. 32-60]. A corollary is that when drawing upon this knowledge (e.g., to answer questions), particular aspects of this distributed information is re-activated as a function of the requirements of the task at hand [L.J. Buxbaum, E.M. Saffran, Knowledge of object manipulation and object function: dissociations in apraxic and non-apraxic subjects. Brain and Language, 82 (2002) 179-199; L.J. Buxbaum, T. Veramonti, M.F. Schwartz, Function and manipulation tool knowledge in apraxia: knowing 'what for' but not 'how', Neurocase, 6 (2000) 83-97; W. Simmons, L. Barsalou, The similarity-in-topography principle: Reconciling theories of conceptual deficits, Cognitive Neuropsychology, 20 (2003) 451-486]. This account predicts that answering questions about object manipulation should activate brain regions previously identified as components of the distributed sensory-motor system involved in object use, whereas answering questions about object function (that is, the purpose that it serves) should activate regions identified as components of the systems supporting verbal-declarative features. These predictions were tested in a functional magnetic resonance imaging (fMRI) study in which 15 participants viewed picture or word pairs denoting manipulable objects and determined whether the objects are manipulated similarly (M condition) or serve the same function (F condition). Significantly greater and more extensive activations in the left inferior parietal lobe bordering the intraparietal sulcus were seen in the M condition with pictures and, to a lesser

  7. Síndrome de Rett: 50 años de historia de un trastorno aun no bien conocido Rett syndrome: 50 years' history of a still not well known condition

    Directory of Open Access Journals (Sweden)

    Jaime Campos-Castello

    2007-01-01

    Full Text Available Desde que fue descrito por primera vez por Andreas Rett hace 50 años, el síndrome de Rett (SR ha sido objeto de muchas investigaciones, sin embargo continúa siendo un trastorno aún no bien conocido. Presentamos nuestra propia experiencia y una revisión de la literatura sobre el SR. Se trata de un trastorno del neurodesarrollo, dominante ligado a X, que afecta casi siempre a mujeres, la mayoría de los casos de forma esporádica. El diagnóstico de SR debe hacerse en base a la observación clínica. Las principales características son la aparición de un retraso mental, cambios conductuales, estereotipias, pérdida del lenguaje y, sobre todo, del uso propositivo de las manos, aparición de una apraxia de la marcha, presencia de alteraciones de la respiración y, frecuentemente, crisis epilépticas. Los criterios diagnósticos consensuados internacionalmente son aquí revisados. El SR se debe en la mayoría de casos a mutaciones del gen MECP2, si bien una proporción de casos atípicos puede estar causada por mutaciones de CDKL5, particularmente la variante con epilepsia precoz. Sin embargo, los mecanismos patogénicos moleculares no son bien conocidos, así como la relación entre las mutaciones de MECP2 y otros trastornos del desarrollo. Revisamos también los hallazgos de neuroimagen, neuropatológicos y neurobioquímicos descritos en el SR. Respecto al tratamiento, aparte del sintomático, no hay ninguno que se haya mostrado eficaz. Un trabajo reciente abre perspectivas terapéuticas futuras al haber demostrado mediante un modelo animal de ratón la reversión de los síntomas neurológicos mediante la activación de la expresión de MeCP2.Since it was first described by Andrea Rett 50 years ago, Rett syndrome (RS has been the subject of further investigations, nonetheless it continues to be a not well known condition. Our own experience and an updated literature review on RS is presented. RS is a severe dominant X chromosome

  8. 帕金森病相关性流涎的研究%Salivation in Parkinson's Disease

    Institute of Scientific and Technical Information of China (English)

    刘立娇; 罗晓光; 任艳; 娄凡; 刘娜; 张熙悫

    2013-01-01

    目的 探讨帕金森病相关性流涎的机制及其临床特点.方法 对帕金森病组和对照组进行帕金森病统一评分量表(UPDRS)、帕金森病唾液分泌临床分级(SCS-PD)、吞咽功能障碍问卷(SDQ)、口面失用和MMSE的问卷调查,并通过唾液腺ECT进行唾液腺功能的定性及半定量分析.结果 帕金森病组(PD)患者存在唾液腺分泌降低,与对照组相比差异有统计学意义(P< 0.05);PD1组和PD2组相比流涎情况差异无统计学意义(P>0.05);帕金森病组SCS-PD评分与SDQ、UPDRS-Ⅰ及UPDRS-Ⅱ评分呈正相关性(P<0.01),与性别,年龄,病程,职业,分期,认知功能,UPDRS-Ⅲ、姿势及口面失用无显著的相关性(P>0.05).结论 帕金森病相关性流涎主要为吞咽功能障碍所致;帕金森病相关性流涎随吞咽功能障碍加重、UPDRS-Ⅰ及UPDRS-Ⅱ评分增高而逐渐加重;与帕金森病的发病密切相关,且可能在清醒时及睡眠时均出现流涎.%Objective Salivation is one of the common clinical manifestations of non-motor symptoms in Parkinson's disease,but there were very few researches about the Parkinson's disease related salivation.This paper discusses the mechanism and clinical features of salivation in Parkinson's disease.Methods UPDRS,SCS-PD,SDQ,orofacial apraxia and MMSE are used in Parkinson's disease group and the control group,the salivary gland function is also evaluated through salivary gland imaging for qualitative and semi-quantitative analysis.Results Patients in Parkinson's disease group showed decreased salivary secretion compared with control group,and the difference was statistically significant (P < 0.05).There was no significant difference between PD1 group and PD2 group in salivation situation (P > 0.05);SCSPD scores was positively correlated with the scores of SDQ,UPDRS-Ⅰ and UPDRS-Ⅱ (P < 0.01),but no significant correlation was observed between SCS-PD scores and the scores of gender

  9. Habilidades de praxia verbal e não-verbal em indivíduos gagos Verbal and non-verbal praxic abilities in stutterers

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    Natália Casagrande Brabo

    2009-12-01

    Full Text Available OBJETIVO: caracterizar as habilidades de praxias verbal e não-verbal em indivíduos gagos. MÉTODOS: participaram do estudo 40 indivíduos, com idade igual ou superior a 18 anos, do sexo masculino e feminino: 20 gagos adultos e 20 sem queixas de comunicação. Para a avaliação das praxias verbal e não-verbal, os indivíduos foram submetidos à aplicação do Protocolo de Avaliação da Apraxia Verbal e Não-verbal (Martins e Ortiz, 2004. RESULTADOS: com relação às habilidades de praxia verbal houve diferença estatisticamente significante no número de disfluências típicas e atípicas apresentadas pelos grupos estudados. Quanto à tipologia das disfluências observou-se que nas típicas houve diferença estatisticamente significante entre os grupos estudados apenas na repetição de frase, e nas atípicas, houve diferença estatisticamente significante, tanto no bloqueio quanto na repetição de sílaba e no prolongamento. Com relação às habilidades de praxia não-verbal, não foram observadas diferenças estatisticamente significantes entre os indivíduos estudados na realização dos movimentos de lábios, língua e mandíbula, isolados e em sequência. CONCLUSÃO: com relação às habilidades de praxia verbal, os gagos apresentaram frequência maior de rupturas da fala, tanto de disfluências típicas quanto de atípicas, quando comparado ao grupo controle. Já na realização de movimentos práxicos isolados e em sequência, ou seja, nas habilidades de praxia não-verbal, os indivíduos gagos não se diferenciaram dos fluentes não confirmando a hipótese de que o início precoce da gagueira poderia comprometer as habilidades de praxia não-verbal.PURPOSE: to characterize the verbal and non-verbal praxic abilities in adult stutterers. METHODS: for this research, 40 over 18-year old men and women were selected: 20 stuttering adults and 20 without communication complaints. For the praxis evaluation, they were submitted to

  10. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report

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    Rodríguez-Martínez Ana B

    2012-10-01

    Full Text Available Abstract Introduction The coexistence of different molecular types of classical protease-resistant prion protein in the same individual have been described, however, the simultaneous finding of these with the recently described protease-sensitive variant or variably protease-sensitive prionopathy has, to the best of our knowledge, not yet been reported. Case presentation A 74-year-old Caucasian woman showed a sporadic Creutzfeldt–Jakob disease clinical phenotype with reactive depression, followed by cognitive impairment, akinetic-rigid Parkinsonism with pseudobulbar syndrome and gait impairment with motor apraxia, visuospatial disorientation, and evident frontal dysfunction features such as grasping, palmomental reflex and brisk perioral reflexes. She died at age 77. Neuropathological findings showed: spongiform change in the patient’s cerebral cortex, striatum, thalamus and molecular layer of the cerebellum with proteinase K-sensitive synaptic-like, dot-like or target-like prion protein deposition in the cortex, thalamus and striatum; proteinase K-resistant prion protein in the same regions; and elongated plaque-like proteinase K-resistant prion protein in the molecular layer of the cerebellum. Molecular analysis of prion protein after proteinase K digestion revealed decreased signal intensity in immunoblot, a ladder-like protein pattern, and a 71% reduction of PrPSc signal relative to non-digested material. Her cerebellum showed a 2A prion protein type largely resistant to proteinase K. Genotype of polymorphism at codon 129 was valine homozygous. Conclusion Molecular typing of prion protein along with clinical and neuropathological data revealed, to the best of our knowledge, the first case of the coexistence of different protease-sensitive prion proteins in the same patient in a rare case that did not fulfill the current clinical diagnostic criteria for either probable or possible sporadic Creutzfeldt–Jakob disease. This highlights the

  11. Tool use disorders in neurodegenerative diseases: Roles of semantic memory and technical reasoning.

    Science.gov (United States)

    Baumard, Josselin; Lesourd, Mathieu; Jarry, Christophe; Merck, Catherine; Etcharry-Bouyx, Frédérique; Chauviré, Valérie; Belliard, Serge; Moreaud, Olivier; Croisile, Bernard; Osiurak, François; Le Gall, Didier

    2016-09-01

    In the field of apraxia, it has been suggested that the ability to use tools and objects in daily life depends not only on semantic knowledge about tool function and context of use but also on technical reasoning about mechanical properties of tools and objects. The aim of the present work was to assess tool use abilities regarding these hypotheses in patients with neurodegenerative diseases and reduced autonomy. Performance of patients with Alzheimer's disease (AD) (n = 31), semantic dementia (SD) (n = 16) and corticobasal syndrome (CBS) (n = 7) was compared to that of healthy control participants (n = 31) in familiar tool use tasks, functional/contextual associations and mechanical problem solving (MPS). A conversion method was applied to data in order to avoid ceiling effects. Tool use disorders were found in all patient groups but the underlying reasons were different. Patients with SD had difficulties in imagining and selecting familiar tools due to the semantic loss but they performed in normal range in MPS tasks. Interestingly, they performed better with only one tool and its corresponding object, which is interpreted as a partial compensation of semantic loss by spared technical reasoning. Patients with CBS exhibited the reverse pattern, that is, MPS deficits without semantic loss. However, additional qualitative research is needed to disentangle the relative contributions of motor and technical reasoning deficits to this pattern. Both of these profiles were found in patients with AD. For all that, these patients did not commit the same errors as stroke patients with left brain-damage documented in previous works. Several hypotheses are proposed to account for the specificity of tool use disorders in neurodegenerative diseases, and recommendations are provided to caregivers. PMID:27376932

  12. Cognitive rehabilitation in a visual variant of Alzheimer's disease.

    Science.gov (United States)

    Alves, Jorge; Magalhães, Rosana; Arantes, Mavilde; Cruz, Sara; Gonçalves, Óscar F; Sampaio, Adriana

    2015-01-01

    Alzheimer's disease (AD) is commonly associated with marked memory deficits; however, nonamnestic variants have been consistently described as well. Posterior cortical atrophy (PCA) is a progressive degenerative condition in which posterior regions of the brain are predominantly affected, therefore resulting in a pattern of distinctive and marked visuospatial symptoms, such as apraxia, alexia, and spatial neglect. Despite the growing number of studies on cognitive and neural bases of the visual variant of AD, intervention studies remain relatively sparse. Current pharmacological treatments offer modest efficacy. Also, there is a scarcity of complementary nonpharmacological interventions with only two previous studies of PCA. Here we describe a highly educated 57-year-old patient diagnosed with a visual variant of AD who participated in a cognitive intervention program (comprising reality orientation, cognitive stimulation, and cognitive training exercises). Neuropsychological assessment was performed across moments (baseline, postintervention, follow-up) and consisted mainly of verbal and visual memory. Baseline neuropsychological assessment showed deficits in perceptive and visual-constructive abilities, learning and memory, and temporal orientation. After neuropsychological rehabilitation, we observed small improvements in the patient's cognitive functioning, namely in verbal memory, attention, and psychomotor abilities. This study shows evidence of small beneficial effects of cognitive intervention in PCA and is the first report of this approach with a highly educated patient in a moderate stage of the disease. Controlled studies are needed to assess the potential efficacy of cognition-focused approaches in these patients, and, if relevant, to grant their availability as a complementary therapy to pharmacological treatment and visual aids. PMID:25529594

  13. The time course of neurolinguistic and neuropsychological symptoms in three cases of logopenic primary progressive aphasia.

    Science.gov (United States)

    Etcheverry, Louise; Seidel, Barbara; Grande, Marion; Schulte, Stephanie; Pieperhoff, Peter; Südmeyer, Martin; Minnerop, Martina; Binkofski, Ferdinand; Huber, Walter; Grodzinsky, Yosef; Amunts, Katrin; Heim, Stefan

    2012-06-01

    Primary progressive aphasia (PPA) is a rare clinical dementia syndrome affecting predominantly language abilities. Word-finding difficulties and comprehension deficits despite relatively preserved cognitive functions are characteristic symptoms during the first two years, and distinguish PPA from other dementia types like Alzheimer's disease. However, the dynamics of changes in language and non-linguistic abilities are not well understood. Most studies on progression used cross-sectional designs, which provide only limited insight into the course of the disease. Here we report the results of a longitudinal study in three cases of logopenic PPA over a period of 18 months, with exemplary longitudinal data from one patient even over 46 months. A comprehensive battery of neurolinguistic and neuropsychological tests was applied four times at intervals of six months. Over this period, deterioration of verbal abilities such as picture naming, story retelling, and semantic word recall was found, and the individual decline was quantified and compared between the three patients. Furthermore, decrease in non-verbal skills such as divided attention and increasing apraxia was observed in all three patients. In addition, inter-subject variability in the progression with different focuses was observed, with one patient developing a non-fluent PPA variant. The longitudinal, multivariate investigation of logopenic PPA thus provides novel insights into the progressive deterioration of verbal as well as non-verbal abilities. These deficits may further interact and thus form a multi-causal basis for the patients' problems in every-day life which need to be considered when planning individually targeted intervention in PPA.

  14. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

    Science.gov (United States)

    Desbats, Maria Andrea; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo

    2015-01-01

    Coenzyme Q(10) is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidants. Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, and COQ9) cause primary CoQ(10) deficiency, a heterogeneous group of disorders with variable age of onset (from birth to the seventh decade) and associated clinical phenotypes, ranging from a fatal multisystem disease to isolated steroid resistant nephrotic syndrome (SRNS) or isolated central nervous system disease. The pathogenesis is complex and related to the different functions of CoQ(10). It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ(10) deficiency can also be observed in patients with defects unrelated to CoQ(10) biosynthesis, such as RC defects, multiple acyl-CoA dehydrogenase deficiency, and ataxia and oculomotor apraxia.Patients with both primary and secondary deficiencies benefit from high-dose oral supplementation with CoQ(10). In primary forms treatment can stop the progression of both SRNS and encephalopathy, hence the critical importance of a prompt diagnosis. Treatment may be beneficial also for secondary forms, although with less striking results.In this review we will focus on CoQ(10) biosynthesis in humans, on the genetic defects and the specific clinical phenotypes associated with CoQ(10) deficiency, and on the diagnostic strategies for these conditions.

  15. Noninvasive diagnostic methods for perceptual and motor disabilities in children with cerebral palsy

    Directory of Open Access Journals (Sweden)

    Renee Lampe

    2009-09-01

    Full Text Available The field of neuroorthopedics centers on chronic diseases demanding close clinical monitoring. We shall use several examples to show how the various noninvasive diagnostic instruments can be used to obtain insight into the central nervous system as well as into the musculoskeletal system and its morphology. The choice of the most appropriate method depends on the problem; that is, whether the method is to be applied for clinical use or for basic research. In this report we introduce various technical examination methods that are being used successfully in the fields of pediatrics, orthopedics, and neurology. The major examination instrument in pediatric diagnostics is sonography, which is being used in this report as a research instrument for the biomechanics of the musculoskeletal system, but which also gives insight into neurofunctional sequences. In orthopedics, pedography is used for diagnosing deformities of the feet. In neuroorthopedics for children pedography acts as a functional monitor for apraxia and thus allows, for example, a classification of the degree of neurological malfunctions in the lower extremities. The 3D bodyscan is used to minimize x-raying in patients with neurogenic scoliosis. This report introduces examples of the application of MRI and fMRI for basic research. The biometric measuring methods introduced provide precise data in the areas of diagnostics and monitoring and are highly valuable for further neuroorthopedic basic research. In future we expect the ever-evolving technical measuring methods to enable a deeper understanding of the primary neurological causes of and the implications for patients with cerebral palsy and other neuroorthopedic conditions. This may allow the development of new forms of therapy not necessarily predictable today.

  16. Communicating hydrocephalus following eosinophilic meningitis is pathogenic for chronic Viliuisk encephalomyelitis in Northeastern Siberia.

    Directory of Open Access Journals (Sweden)

    Alexander Storch

    Full Text Available BACKGROUND: Viliuisk encephalomyelitis (VE is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian Republic. METHODOLOGY AND PRINCIPLE FINDINGS: In search for the pathophysiology and causative agent of VE, we performed a cross-sectional study on clinical, serological and neuroimaging data on chronic VE patients during two medical expeditions to three villages within the Viliuiski river basin in the Republic of Sakha in 2000 and to the capital Yakutsk in 2006. The severity of the core clinical picture with predominant sensory ataxia, gait apraxia, lower limb spasticity, cognitive impairment and bladder dysfunction correlated with the degree of MRI findings showing enlargement of inner ventricular spaces as in communicating hydrocephalus. Laboratory studies revealed transient eosinophilia during the preceding acute meningitis-like phase, but no ongoing inflammatory process in the CSF. We found immune reactions against Toxocara canis in the majority of chronic VE patients but rarely in controls (P = 0.025; Fisher's exact test. Histological analysis of subacute to subchronic VE brain samples showed eosinophilic infiltrations with no signs of persistent Toxocara canis infection. CONCLUSIONS AND SIGNIFICANCE: Our data showed that pressure by the communicating hydrocephalus as a mechanical factor is the major pathogenic mechanism in chronic VE, most likely triggered by eosinophilic meningitis. There are no signs for an ongoing inflammatory process in chronic VE. The past eosinophilic reaction in VE might be caused by Toxocara ssp. infection and might therefore represent the first hint for an initial cause leading to the development of chronic VE. Our data provide a framework for future studies and potential therapeutic interventions for this enigmatic epidemic neurological disease potentially spreading in Sakha Republic.

  17. The Psychologic Treatment of the Hemiplegic Upper Limb%上肢偏瘫者康复治疗中的心理问题

    Institute of Scientific and Technical Information of China (English)

    张学斌

    2000-01-01

    偏瘫是许多神经系统疾病常见的功能障碍,偏瘫上肢的预后如何对ADL的恢复与改善和生活质量的高低有着决定性的意义。偏瘫上肢的功能恢复不仅涉及运动功能问题,而且还涉及心理问题,偏瘫上肢的心理问题除涵盖一般偏瘫病人的心理问题外,还因偏瘫上肢的功能障碍特点而有其特殊性。其中主要包括由于偏瘫上肢的运动功能恢复常较下肢缓慢,偏瘫上肢伴发的失认、失用,以及肩-手综合征等引起的心理问题,正确地处理好这些心理问题将有助于偏瘫者整体功能的恢复。%Hemiplegia is the common imparirment caused by many diseases of nerve system.The outcome of the hemiplegic upper limb plays and important role on the improvement of ADL and the level of QOL.The recovery of the hemiplegic upper limb diose not only involve the motional function,but,because of the speciality of its functional impairments,also involves the psychologic problem which mainly includes the slower recovery of he hemiplegic upper limb than the lower one,agnosia,apraxia and shoulder-hand syndrone.A proper treatment to these psychologic problems is helpful to the general recovery of the hemiplegic patients.

  18. Distinct contribution of the parietal and temporal cortex to hand configuration and contextual judgements about tools.

    Science.gov (United States)

    Andres, Michael; Pelgrims, Barbara; Olivier, Etienne

    2013-09-01

    Neuropsychological studies showed that manipulatory and semantic knowledge can be independently impaired in patients with upper-limb apraxia, leading to different tool use disorders. The present study aimed to dissociate the brain regions involved in judging the hand configuration or the context associated to tool use. We focussed on the left supramarginalis gyrus (SMG) and left middle temporal gyrus (MTG), whose activation, as evidenced by functional magnetic resonance imaging (fMRI) studies, suggests that they may play a critical role in tool use. The distinctive location of SMG in the dorsal visual stream led us to postulate that this parietal region could play a role in processing incoming information about tools to shape hand posture. In contrast, we hypothesized that MTG, because of its interconnections with several cortical areas involved in semantic memory, could contribute to retrieving semantic information necessary to create a contextual representation of tool use. To test these hypotheses, we used neuronavigated transcranial magnetic stimulation (TMS) to interfere transiently with the function of either left SMG or left MTG in healthy participants performing judgement tasks about either hand configuration or context of tool use. We found that SMG virtual lesions impaired hand configuration but not contextual judgements, whereas MTG lesions selectively interfered with judgements about the context of tool use while leaving hand configuration judgements unaffected. This double dissociation demonstrates that the ability to infer a context of use or a hand posture from tool perception relies on distinct processes, performed in the temporal and parietal regions. The present findings suggest that tool use disorders caused by SMG lesions will be characterized by difficulties in selecting the appropriate hand posture for tool use, whereas MTG lesions will yield difficulties in using tools in the appropriate context.

  19. Gender differences in non-standard mapping tasks: A kinematic study using pantomimed reach-to-grasp actions.

    Science.gov (United States)

    Copley-Mills, Freya; Connolly, Jason D; Cavina-Pratesi, Cristiana

    2016-09-01

    Comparison between real and pantomimed actions is used in neuroscience to dissociate stimulus-driven (real) as compared to internally driven (pantomimed) visuomotor transformations, with the goal of testing models of vision (Milner & Goodale, 1995) and diagnosing neuropsychological deficits (apraxia syndrome). Real actions refer to an overt movement directed toward a visible target whereas pantomimed actions refer to an overt movement directed either toward an object that is no longer available. Although similar, real and pantomimed actions differ in their kinematic parameters and in their neural substrates. Pantomimed-reach-to-grasp-actions show reduced reaching velocities, higher wrist movements, and reduced grip apertures. In addition, seminal neuropsychological studies and recent neuroimaging findings confirmed that real and pantomimed actions are underpinned by separate brain networks. Although previous literature suggests differences in the praxis system between males and females, no research to date has investigated whether or not gender differences exist in the context of real versus pantomimed reach-to-grasp actions. We asked ten male and ten female participants to perform real and pantomimed reach-to-grasp actions toward objects of different sizes, either with or without visual feedback. During pantomimed actions participants were required to pick up an imaginary object slightly offset relative to the location of the real one (which was in turn the target of the real reach-to-grasp actions). Results demonstrate a significant difference between the kinematic parameters recorded in male and female participants performing pantomimed, but not real reach-to-grasp tasks, depending on the availability of visual feedback. With no feedback both males and females showed smaller grip aperture, slower movement velocity and lower reach height. Crucially, these same differences were abolished when visual feedback was available in male, but not in female participants

  20. [Psychopathology in children with dyspraxia].

    Science.gov (United States)

    Lemonnier, E

    2010-08-01

    The term "dyspraxia" was coined by Julian de Ajuriaguerra and Mira Stambak in 1964. This clinical term was treated very differently according to which explanatory model was adopted. Nowadays, it is used to refer to developmental coordination disorder in view of its neuro-developmental origin. In any case, the actual clinical situations vary and are often complex. In our opinion, it is first necessary to examine the differential diagnosis: apraxia in children caused by lesions, dysgraphia, simply delayed motor development, non-verbal learning disability syndrome, hemispheric specialisation deficits, pervasive developmental disorders (autisms, Asperger syndrome, atypical autism and other pervasive developmental disorders), mixed specific developmental disorders, multiple developmental disorder, and children with high potential. Next we focus on co-morbidity. Firstly, we look at psychopathological disorders associated with dyspraxia: autism and pervasive developmental disorders, dyscalculia/math disability, dyslexia/reading difficulties, dysphasia accompanied by verbal dyspraxia, intelligence deficiency, anxiety disorders, and attention-deficit hyperactivity disorder (ADHD). Secondly, we examine psychopathological disorders associated with dyspraxia. Children with developmental coordination disorder are less inclined to participate in collective games. As a result, there is a greater risk of them becoming lonely and isolated. They have higher child behaviour checklist (CBCL) scores in the somatic problems scale as well as for anxiety, depression and social withdrawal. They have low self-perception in sports as well as at school, which is related to their physical appearance and their self-esteem, attention deficit and externalized behaviour. These children are often at risk of academic failure and they suffer from oppositional defiant disorder and functional disorders. And finally, we believe that it is important to touch on the impact of these disorders on the family

  1. It takes the whole brain to make a cup of coffee: the neuropsychology of naturalistic actions involving technical devices.

    Science.gov (United States)

    Hartmann, Karoline; Goldenberg, Georg; Daumüller, Maike; Hermsdörfer, Joachim

    2005-01-01

    Left hemisphere dominance has been established for use of single familiar tools and tool/object pairs, but everyday action in natural environment frequently affords multi-step actions with more or less novel technical devices. One purpose of our study was to find out whether left hemisphere dominance extends to such naturalistic action. Another aim was to analyze the cognitive components contributing to success or failure. Patients with LBD and aphasia, patients with RBD, and healthy controls were examined on experimental tests assessing retrieval of functional knowledge from semantic memory, inference of function from structure, and solution of mechanical and non-mechanical multi-step problems, and were confronted with two naturalistic tasks involving technical devices: preparing coffee with a drip coffee maker and fixing a cassette recorder. Both patient groups were about equally impaired on both naturalistic actions. Analysis of the experimental tests and their correlations to naturalistic actions suggested that different cognitive deficits caused failure in both patient groups, and that in LBD patients there were also different causes for failure on both naturalistic actions. The main difficulty of RBD patients seemed to reside in the demand to keep track of multi-step actions. In aphasic LBD patients difficulties with making coffee but not the cassette recorder were correlated with aphasia and defective retrieval of functional knowledge from semantic memory, whereas the cassette recorder correlated more strongly with a test probing solution of multi-step mechanical problems. Inference of function from structure which had been shown to be important for use of single familiar tools or tool/objects pairs [Goldenberg, G., Hagmann, S. (1998). AT Tool use and mechanical problem solving in apraxia. Neuropsychologia, 36, 581-589] appeared to play only a subordinate role for naturalistic actions involving technical devices. PMID:15716152

  2. Tc-99m-bicisate (ECD)-brain-SPECT in rapidly progressive dementia; Hirn-SPECT mit Tc-99m-Bicisat (ECD) bei rasch progredientem dementiellen Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Marienhagen, J.; Eilles, C. [Regensburg Univ. (Germany). Abt. fuer Nuklearmedizin; Weingaertner, U.; Blaha, L. [Bezirkskrankenhaus Mainkofen (Germany). Psychiatrische Klinik; Zerr, I.; Poser, S. [Goettingen Univ. (Germany). Klinik und Poliklinik fuer Neurologie

    1999-07-01

    We present a 61-year-old male patient with progressive dementia. A brain SPECT with Tc-99m-bicisate was performed for confirmation of clinically suspected Alzheimer-dementia. At the time of the SPECT-investigation marked apraxia and aphasia besides severe dementia were present. Electrophysiological as well as anatomical neuroimaging findings showed non-diagnostic alterations. SPECT revealed distinct perfusion defects, which made Alzheimer Dementia unlikely. The further course of the patient was determined by rapidly progressive deterioration with development of akinetic mutism. Thereafter, increased levels of neuron-specific enolase as well as 14-3-3 proteins were found in the cerebro-spinal fluid (CSF). The patient finally died with signs of cerebral decortication. Due to the clinical course and the CSF-findings the patient's final diagnosis was Creutzfeld-Jakob-disease, nevertheless no autopsy was performed. The presented case report underscores the clinical utility of perfusion brain SPECT in the differential diagnosis of dementias. (orig.) [German] Wir berichten ueber einen 61jaehrigen Patienten mit progredientem dementiellen Syndrom, der unter der Verdachtsdiagnose einer Demenz vom Alzheimer-Typ (DAT) zur Hirn-SPECT-Untersuchung mit TC-99m-Bicisat (ECD) vorgestellt wurde. Zum Untersuchungszeitpunkt bestanden neben dem Vollbild einer Demenz eine ausgepraegte Apraxie und Aphasie bei unspezifischen Veraenderungen im EEG sowie der neuroradiologischen Bildgebung. In der Hirn-SPECT-Untersuchung fanden sich fuer eine DAT untypische ausgedehnte, vorwiegend rechtshemisphaerische Perfusionsstoerungen. Im weiteren Verlauf rasche Progredienz des Krankheitsbildes mit Entwicklung eines akinetischen Mutismus sowie Nachweis erhoehter Werte der neuronspezifischen Enolase und des 14-3-3-Proteins im Liquor. Der Patient verstarb schliesslich unter dem Bild einer Decortication. Aufgrund des klinischen Verlaufs sowie der Liquorbefunde wurde, da eine autoptische Befundsicherung

  3. CBF tomograms with (/sup 99m/Tc-HM-PAO in patients with dementia (Alzheimer type and HIV) and Parkinson's disease--initial results

    Energy Technology Data Exchange (ETDEWEB)

    Costa, D.C.; Ell, P.J.; Burns, A.; Philpot, M.; Levy, R.

    1988-12-01

    We present preliminary data on the utility of functional brain imaging with (99mTc)-d,l-HM-PAO and single photon emission computed tomography (SPECT) in the study of patients with dementia of the Alzheimer type (DAT), HIV-related dementia syndrome, and the on-off syndrome of Parkinson's disease. In comparison with a group of age-matched controls, the DAT patients revealed distinctive bilateral temporal and posterior parietal deficits, which correlate with detailed psychometric evaluation. Patients with amnesia as the main symptom (group A) showed bilateral mesial temporal lobe perfusion deficits (p less than 0.02). More severely affected patients (group B) with significant apraxia, aphasia, or agnosia exhibited patterns compatible with bilateral reduced perfusion in the posterior parietal cortex, as well as reduced perfusion to both temporal lobes, different from the patients of the control group (p less than 0.05). SPECT studies of HIV patients with no evidence of intracraneal space occupying pathology showed marked perfusion deficits. Patients with Parkinson's disease and the on-off syndrome studied during an on phase (under levodopa therapy) and on another occasion after withdrawal of levodopa (off) demonstrated a significant change in the uptake of (99mTc)-d,l-HM-PAO in the caudate nucleus (lower on off) and thalamus (higher on off). These findings justify the present interest in the functional evaluation of the brain of patients with dementia. (99mTc)-d,l-HM-PAO and regional cerebral blood flow (rCBF)/SPECT appear useful and highlight individual disorders of flow in a variety of neuropsychiatric conditions.

  4. Anodal transcranial direct current stimulation of parietal cortex enhances action naming in Corticobasal Syndrome

    Directory of Open Access Journals (Sweden)

    Rosa eManenti

    2015-04-01

    Full Text Available Background: Corticobasal Syndrome (CBS is a neurodegenerative disorder that overlaps both clinically and neuropathologically with Frontotemporal dementia and is characterized by apraxia, alien limb phenomena, cortical sensory loss, cognitive impairment, behavioural changes and aphasia. It has been recently demonstrated that transcranial direct current stimulation (tDCS improves naming in healthy subjects and in subjects with language deficits.Objective: The aim of the present study was to explore the extent to which anodal transcranial direct current stimulation (anodal tDCS over the parietal cortex (PARC could facilitate naming performance in CBS subjects. Methods: Anodal tDCS was applied to the left and right PARC during object and action naming in seventeen patients with a diagnosis of possible CBS. Participants underwent two sessions of anodal tDCS (left and right and one session of placebo tDCS. Vocal responses were recorded and analyzed for accuracy and vocal Reaction Times (vRTs. Results: A shortening of naming latency for actions was observed only after active anodal stimulation over the left PARC, as compared to placebo and right stimulations. No effects have been reported for accuracy.Conclusions: Our preliminary finding demonstrated that tDCS decreased vocal reaction time during action naming in a sample of patients with CBS. A possible explanation of our results is that anodal tDCS over the left PARC effects the brain network implicated in action observation and representation. Further studies, based on larger patient samples, should be conducted to investigate the usefulness of tDCS as an additional treatment of linguistic deficits in CBS patients.

  5. DISTURBIOS PRAXICOS EN LESIONES FOCALES DE LOS HEMISFERIOS CEREBRALES

    Directory of Open Access Journals (Sweden)

    Jorge Murillo Duran

    2007-01-01

    Full Text Available El propósito de este trabajo es analizar la dificultad paraxial, es decir, los desórdenes funcionales en el movimiento resultado de lesiones cerebrales del tejido fino. De acuerdo con la literatura sobre la materia, se ha aceptado la definición de la apraxia como la inhabilidad en ejecutar correctamente tareas cinéticas, sin la debilitación o la pérdida de motricidad o de funciones sensoriales o la ataxia como condicionante de tal inhabilidad". La "ejecución apropiada" utilizada en esta definición considera no solamente el efecto de la acción, también los medios de su realización. Las "tareas cinéticas" significan todos los aspectos de la actividad motora definidos por las instrucciones, independientes del tipo de instrucción (verbal o los gestos, y sin importar si lograron el efecto final imitando el movimiento del investigador o si fueron realizadas independientemente. La metodología se ha basado en principio en los trabajos de A.R.Luria.. Las discusiones fueron basadas en los resultados de la investigación que comprendían a 90 pacientes con lesiones cerebrales focales. En cincuenta casos, los cambios fueron localizados en el hemisferio cerebral izquierdo, en cuarenta casos en el hemisferio derecho. Los resultados alcanzaron permiten formar la opinión que no todas las pruebas generalmente aceptadas que investigan praxia en personas con lesiones cerebrales son solucionadas favorablemente por individuos sanos; así, una ejecución deficiente no se debe mirar siempre como muestra del funcionamiento patológico del tejido fino cerebral como resultado de la lesión.

  6. Examination of the presynaptic dopaminergic system using positron emission tomography in a family with autosomal dominant parkinsonism and dementia due to pallido-ponto-nigral degeneration (PPNO)

    Energy Technology Data Exchange (ETDEWEB)

    Cordes, M. [Neurodegenerative Disorders Centre, Univ. of British Columbia, Vancouver, BC (Canada)]|[Strahlenklinik und Poliklinik, Universitaetsklinikum Rudolf Virchow, Freie Univ. Berlin (Germany); Wszolek, Z.K. [Neurodegenerative Disorders Centre, Univ. of British Columbia, Vancouver, BC (Canada)]|[Section of Neurology, Univ. of Nebraska Medical Center, Omaha, NE (United States); Pfeiffer, R.F. [Section of Neurology, Univ. of Nebraska Medical Center, Omaha, NE (United States); Calne, D.B. [Neurodegenerative Disorders Centre, Univ. of British Columbia, Vancouver, BC (Canada)

    1993-12-31

    We report positron emission tomography (PET) examinations of presynaptic nigrostriatal dopaminergic function in a large family with an autosomal dominant neuro-degenerative disorder characterized pathologically by pallido-ponto-nigral degeneration, and clinically by parkinsonism, dystonia, paresis of conjugate gaze, apraxia of eyelid opening and closing, pyramidal tract dysfunction, and urinary incontinence. Dopaminergic function was studied and quantified with [{sup 18}F]-L-6-fluorodopa (6 FD) and PET in five affected patients, 13 individuals at-risk, and 15 similarly aged controls. The rate constant K{sub i} (mL/striatum/min) for 6 FD was decreased in all patients. None of the individuals at risk had reduced 6 FD uptake. In fact, three of them had increased values. Repeat scans have revealed a fall in 6 FD uptake in two out of the three with initially high constants. This may reflect a preclinical stage of involvement, but longer observation is necessary. (orig.) [Deutsch] Wir berichten ueber Untersuchungen der praesynaptischen dopaminergen Funktion mit der Positronenemissionstomographie bei einer grossen Familie mit autosomal-dominant vererbtem Parkinsonismus und Demenz. Die Erkrankung ist pathologisch-anatomisch gekennzeichnet durch eine pallido-ponto-nigrale Degeneration. Klinisch bestehen ein Parkinsonismus, Dystonien, eine Apraxie der Augenoeffnung und -schliessung, pyramidale Dysfunktionen und eine Harninkontinenz. Die praesynaptische dopaminerge Funktion wurde untersucht und quantifiziert mittels [{sup 18}F]-L-6-Fluorodopa (6FD) PET bei fuenf erkrankten Patienten, 13 Risikopatienten und 15 Kontrollpersonen vergleichbaren Alters. Die Transportkonstante K{sub i} (ml/Striatum/min) fuer die striatale Aufnahme des Radiotracers war bei allen erkrankten Patienten erniedrigt. Von den 13 Risikopatienten hatte keiner eine reduzierte Aufnahme von 6FD. Drei Risikopatienten zeigten sogar Werte fuer K{sub i}, die oberhalb des Referenzbereiches der Kontrollpersonen lagen

  7. 胼胝体梗死%Callosal infarction

    Institute of Scientific and Technical Information of China (English)

    刘丽君; 滕继军; 张晨

    2010-01-01

    胼胝体的血液供应丰富,功能复杂,梗死发生率低.胼胝体梗死的危险因素和病因与其他部位梗死无异.该病的临床表现复杂多样,2个经典的临床表现为胼胝体离断综合征和额叶型步态障碍,但临床上以偏瘫、单瘫、失用和智力障碍等多见.CT平扫阳性率低,MRI对胼胝体梗死具有较高的敏感性和特异性.结合病史和影像学检查,胼胝体梗死的诊断并不困难,但需与其他易累及胼胝体的疾病相鉴别.多数胼胝体梗死患者的预后良好.%he blood supply of corpus callosum is rich, its function is complex, and the incidence of infarction is low. The risk factors and etiology for callosal infarction do not have any difference with the infarction in other parts of the brain. The clinical manifestations of the disease are complex and diverse. The two classical clinical manifestations are callosal disconnection syndrome and frontal-type gait disorder, but hemiplegia, monoplegia, apraxia, and mental retardation are common in clinical practice. The positive rate of CT scan is lower. MRI has higher sensitivity and specificity for callosal infarction. The diagnosis of callosal infarction is not difficult according to the history and imaging examination, however, it needs to be differentiated with other diseases that likely involve corpus callosum. Most of the patients with callosal infarction have good prognosis.

  8. Precuneus atrophy in early-onset Alzheimer's disease: a morphometric structural MRI study

    Energy Technology Data Exchange (ETDEWEB)

    Karas, Giorgos [Vrije Universiteit Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Scheltens, Philip; Jones, Bethany [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Neurology, Amsterdam (Netherlands); Rombouts, Serge [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Physics and Informatics, Amsterdam (Netherlands); Schijndel, Ronald van [Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Physics and Informatics, Amsterdam (Netherlands); Klein, Martin [Vrije Universiteit Medical Center, Department of Medical Psychology, Amsterdam (Netherlands); Flier, Wiesje van der [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrenken, Hugo [Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Barkhof, Frederik [Vrije Universiteit Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands)

    2007-12-15

    Alzheimer's disease (AD) usually first presents in elderly patients, but may also develop at an earlier age. Patients with an early age at onset tend to present with complaints other than memory impairment, such as visuospatial problems or apraxia, which may reflect a different distribution of cortical involvement. In this study we set out to investigate whether age at onset in patients with AD determines the pattern of atrophy on cerebral MRI scans. We examined 55 patients with AD over a wide age range and analyzed their 3-D T1-weighted structural MRI scans in standard space using voxel-based morphometry (VBM). Regression analysis was performed to estimate loss of grey matter as a function of age, corrected for mini-mental state examination (MMSE) scores and sex. The VBM analyses identified multiple areas (including the temporal and parietal lobes), showing more atrophy with advancing age. By contrast, a younger age at onset was found to be associated with lower grey matter density in the precuneus. Regionalized volumetric analysis of this region confirmed the existence of disproportionate atrophy in the precuneus in patients with early-onset AD. Application of a multivariate model with precuneus grey matter density as input, showed that precuneal and hippocampal atrophy are independent from each other. Additionally, we found that a smaller precuneus is associated with impaired visuospatial functioning. Our findings support the notion that age at onset modulates the distribution of cortical involvement, and that disproportionate precuneus atrophy is more prominent in patients with a younger age of onset. (orig.)

  9. 缺血缺氧性脑病后躯干和下肢观念运动性失用1例报道

    Institute of Scientific and Technical Information of China (English)

    彭松波; 陈卫东; 宋红; 张健; 朱倩博

    2010-01-01

    目的:报道1例缺血缺氧性脑病后躯干、下肢观念运动性失用(ideomotor apraxia,IMA)患者的临床表现及影像学特点,探讨躯干、下肢观念运动性失用的评估方法及康复训练手段.方法:神经系统常规检查排除运动能力障碍、感觉障碍、认知障碍等;通过按指令执行动作、模仿动作和及物动作三部分,设计针对颜面、躯干及上下肢体运动的动作对患者进行IMA评估;影像学检查确定大脑病变部位.干预措施包括神经内科常规药物治疗、高压氧治疗以及康复训练.结果:本病例因出血休克致大脑缺血缺氧性损害,影像学MRJ提示"左侧苍白球异常信号",神经心理学检查提示下肢和躯干的观念运动性失用伴轻度协调障碍,经综合治疗和恰当的康复训练后恢复良好.

  10. Clinical Analysis of 53 Patients with Corpus Callosal Infarction%胼胝体脑梗死53例临床分析

    Institute of Scientific and Technical Information of China (English)

    郑建乐; 胡英嗣

    2011-01-01

    Objective To explore the clinical characteristics, MRI distribution in corpus callosal infarction. Methods The clinical data of 53 cases with corpus callosal infarction were analyzed retrospectively. Results The clinical manifestations of corpus callosal infarction was complex and varied. Hemiplegia, mental retardation and apraxia were common. The classical clinical manifestation was callosal disconnection syndrome. It was often associated with the symptoms of other lesion sites. The main sites of infarction were genu and body. The diagnosis of corpus callosum infarction mainly relied on MRI. Conclusion The clinical manifestations of corpus callosal infarction is complex. MRI can find the sites of infarction. The prognosis is good.%目的 探讨胼胝体脑梗死患者的临床特点和MRI分布.方法 回顾性分析笔者医院53例胼胝体脑梗死患者的临床资料.结果 胼胝体脑梗死临床表现复杂多样,以瘫痪、精神智能障碍以及失用较多见,胼胝体离断综合征是其特征性表现,经常合并其他部位病灶的症状,其病灶以胼胝体膝部及体部多见,胼胝体脑梗死诊断主要依靠MRI.结论 胼胝体脑梗死临床表现复杂,MRI能发现梗死的部位,预后相对较好.

  11. CT classification of small thalamic hemorrhages. Topographic localization and clinical manifestation

    Energy Technology Data Exchange (ETDEWEB)

    Kawahara, Nobutaka; Kaneko, Mitsuo; Tanaka, Keisei; Muraki, Masaaki; Sato, Kengo (Hamamatsu Medical Center Hospital, Shizuoka (Japan))

    1984-06-01

    The thalamus is located deep in the cerebral hemispheres, and most of its nuclei have reciprocal fiber connections with specific areas over the cerebral cortex. Localized lesions in the thalamus, therefore, can cause specific neurological deficits, depending on their locations. From this point of view, we reviewed 110 cases, admitted over the past 7 years, with thalamic hemorrhages 37 (34%) of which were small hematomas less than 2 cm in diameter. These small hematomas could be divided into 4 types depending on their locations as follows: antero-lateral type, postero-lateral type, medial type, and dorsal type. Each type had the peculiar clinical features described below: 1) Postero-lateral Type (PL type, 28 cases, 76%): The original symptom was a sudden onset of moderate to severe sensori-motor deficits in most cases. The patients were mostly alert or only slightly confused. 2) Antero-lateral Type (AL type, 4 cases, 11%): The patients of this type first presented with sensori-motor disturbance and prefrontal signs. Both were generally mild and often disappeared early. 3) Medial Type (M type, 3 cases, 8%): The main symptom at onset was either a disturbance of consciousness or dementia. 4) Dorsal Type (D type, 2 cases, 5%): One patient with a right thalamic hematoma of this type showed geographical agnosia and visuo-constructive apraxia. The other patient, with a left-sided hematoma, exhibited transient clumsiness of the right hand and mild dysphasia. In our experience, the above classification of small hematomas clearly delineated the clinical symptoms and neurological signs of the different types; therefore, the symptoms and signs in larger hematoma could be explained by a combination of those of each type.

  12. 河南农村地区阿尔茨海默病筛查的神经心理和功能测验%Neuropsychological and Functional Study in Screening Alzheimer Dis ease in Henan Province

    Institute of Scientific and Technical Information of China (English)

    吴传深; peterComo; 等

    2002-01-01

    目的:了解神经心理测试量表和功能量表在农村地区阿尔茨海默病(AD)筛查诊断中的应用特点.方法:应用FULD物体记忆测验(FO M)、言语流畅性测验(RVR)、韦氏数字广度测验(DS)、积木测验(BD)、无肌力减退的运动障碍测验(APRAXIA)和PFEFFER功能活动量表(POD)进一步检查那些简易智力检查表(MMSE)筛查阳性的农村50岁以上人群.结果:发现FOM的各项单项分,在AD组、血管性痴呆(VaD)组、混合性痴呆(AD+VD)组、抑郁症组和非痴呆组间有显著性差异.其中有关记忆的项目特异度一般70%以上,以FOM总分的敏感度和特异度最高.而RVR、APRAXIA敏感度均较低,DS、BD的特异度较低,POD的敏感度和特异度均不高.FOM的各项回忆因子分与RVR总分的相关性较好,而FOM各项与DS总分和BD总分的相关系数不如与RVR总分高.结论: FOM在AD的诊断中有重要的地位,而其它神经心理测验有辅助作用.

  13. Neuroinflammation in Alzheimer’s disease and Involvement of Interleukin-1: A Mechanistic View

    Directory of Open Access Journals (Sweden)

    Vivek Sharma

    2011-07-01

    Full Text Available Ageing is a universal biological fact and a natural process. It begins from the day we are born, or perhaps even before. Of the world’s 580 million elderly, 77 million (22% of total live in India. The increasing life expectancy of Indians, in the last decade, is likely to result in an increase in age-related disorders like Alzheimer’s disease and Parkinson’s disease. Alzheimer’s disease, the most common disorder of geriatric population, is a chronic, progressive, untreatable neurodegenerative disorder characterized by apraxia, aphasia, agnosia and severe cognitive deficits. Several behavioural changes like anxiety, hallucinations, depression and delusions are also experienced. Lot of progress has been made regarding understanding the pathological pathways involved, yet the available therapy only provide symptomatic relief but do not stop progression of disease. Several of key areas have been recognised and out of them inflammation has been regarded as inseparable and crucial factor involved. Interleukin-1 is a key molecule in systemic immune responses in health and disease and has analogous roles in the brain where it contributes to neuronal degeneration by energy dysfunction and triggering production of other cytokines, nitric oxide and others. IL-1 over expression is also associated with rheumatoid arthritis, vascular dementia, diabetes mellitus, periodontitis, systemic sclerosis, autoimmune encephalomyelitis and cerebral infarction. Present review is an effort to present IL-1 as potential therapeutic target in treatment of Alzheimer’s disease by linking it with several of pathological factors like amyloidβ, neurofibrillary tangles, neuron loss and cholinergic dysfunction.

  14. Progress in the last decade in our understanding of primary progressive aphasia

    Directory of Open Access Journals (Sweden)

    Ratnavalli Ellajosyula

    2010-10-01

    Full Text Available Primary progressive aphasia (PPA is a focal neurodegeneration of the brain affecting the language network. Patients can have isolated language impairment for years without impairment in other areas. PPA is classified as primary progressive nonfluent aphasia (PNFA, semantic dementia (SD, and logopenic aphasia, which have distinct patterns of atrophy on neuroimaging. PNFA and SD are included under frontotemporal lobar degenerations. PNFA patients have effortful speech with agrammatism, which is frequently associated with apraxia of speech and demonstrate atrophy in the left Broca′s area and surrounding region on neuroimaging. Patients with SD have dysnomia with loss of word and object (or face meaning with asymmetric anterior temporal lobe atrophy. Logopenic aphasics have word finding difficulties with frequent pauses in conversation, intact grammar, and word comprehension but impaired repetition for sentences. The atrophy is predominantly in the left posterior temporal and inferior parietal regions. Recent studies have described several progranulin mutations on chromosome 17 in PNFA. The three clinical syndromes have a less robust relationship to the underlying pathology, which is heterogeneous and includes tauopathy, ubiquitinopathy, Pick′s disease, corticobasal degeneration, progressive supranuclear palsy, and Alzheimer′s disease. Recent studies, however, seem to indicate that a better characterization of the clinical phenotype (apraxic, agrammatic, semantic, logopenic, jargon increases the predictive value of the underlying pathology. Substantial advances have been made in our understanding of PPAs but developing new biomarkers is essential in making accurate causative diagnoses in individual patients. This is critically important in the development and evaluation of disease-modifying drugs.

  15. An MRI and SPECT study of frozen gait without other manifestations of parkinsonism in the elderly

    Energy Technology Data Exchange (ETDEWEB)

    Umahara, Takahiko; Kano, Hiroko; Iwamoto, Toshihiko; Katsunuma, Hideyo (Tokyo Medical Coll. (Japan)); Tachikawa, Kotaro; Tachikawa, Sinzo

    1991-05-01

    The authors have sometimes experienced cases of frozen gait without any other manifestations of parkinsonisms in the elderly, so we examined these cases using MR imaging and SPECT imaging. The group with frozen gait (4 cases, aged 78 to 82 years) which failed to respond to L-dopa therapy, had no limb-kinetic apraxia or frontal signs, but did exhibit 'kinesie paradoxale'. The clinical symptoms of case 4 were consistent with so-called 'pure akinesia'. CT findings in this group failed to elucidate the pathogenesis of frozen gait. MR imaging of all of the cases except for the case of pure akinesia (case 4) revealed a high signal intensity areas in subcortical lesions (especially the frontal area). Case 4 had only a few spotty high-signal intensity areas. We then compared 6 cases which have the same lesions (on MRI) as cases 1{approx}3 without frozen gait in cases 1{approx}3 using {sup 123}I-IMP SPECT. Relatively low accumulation of radionuclide in the frontal area was observed in these cases. Case 4 had a slightly low perfusion area in the frontal lobe. However in the patient treated with L-threo-DOPS, accumulation of radionuclide in the frontal area increased slightly after L-threo-DOPS therapy. It appears that one of the reasons for frozen gait in the elderly is incomplete infarct of the subcortical white matter with a low perfusion area in the frontal cortex. Furthermore, in some cases of frozen gait it is difficult to distinguish between cases with white matter disorders and cases of pure akinesia on the basis of clinical symptons and CT alone. (author).

  16. Creatine transporter deficiency: Novel mutations and functional studies.

    Science.gov (United States)

    Ardon, O; Procter, M; Mao, R; Longo, N; Landau, Y E; Shilon-Hadass, A; Gabis, L V; Hoffmann, C; Tzadok, M; Heimer, G; Sada, S; Ben-Zeev, B; Anikster, Y

    2016-09-01

    X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel. These unrelated patients were evaluated for global developmental delays and language apraxia. Borderline microcephaly was noted in one of them. Diagnosis was prompted by brain magnetic resonance imaging and spectroscopy which revealed normal white matter distribution, but absence of the creatine peak in all three patients. Biochemical testing indicated normal plasma levels of creatine and guanidinoacetate, but an increased urine creatine/creatinine ratio. The diagnosis was confirmed by demonstrating absent ([14])C-creatine transport in fibroblasts. Molecular studies indicated that the first patient is hemizygous for a single nucleotide change substituting a single amino acid (c.619 C > T, p.R207W). Expression studies in HeLa cells confirmed the causative role of the R207W substitution. The second patient had a three base pair deletion in the SLC6A8 gene (c.1222_1224delTTC, p.F408del) as well as a single base change (c.1254 + 1G > A) at a splicing site in the intron-exon junction of exon 8, the latter occurring de novo. The third patient, had a three base pair deletion (c.1006_1008delAAC, p.N336del) previously reported in other patients with creatine transporter deficiency. These three patients are the first reported cases of creatine transporter deficiency in Israel. PMID:27408820

  17. A patient with Moyamoya-like vessels after radiation therapy for a tumor in the basal ganglia

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    Ishiyama, Koichi; Tomura, Noriaki; Kato, Koki; Takahashi, Satoshi; Watarai, Jiro; Sasajima, Toshio; Mizoi, Kazuo [Akita Univ. (Japan). School of Medicine

    2001-10-01

    A patient with Moyamoya-like vessels after radiation therapy for treatment of a tumor in the basal ganglia is reported. He was diagnosed as Down syndrome at birth. He had a tumor in the left basal ganglionic region at 12 years of the age. The tumor increased in size at age 14. He underwent cerebral angiography, which did not show a stenosis nor occlusion of the internal carotid artery, anterior cerebral artery, nor the middle cerebral artery. He received radiation therapy with a total dose of 56 Gy. He presented a dressing apraxia at age 19. MRI showed cerebral infarction in the left temporo-occipital region. Right internal carotid angiography revealed a severe stenosis of the internal carotid artery and anterior cerebral artery as well as a severe stenosis of the middle cerebral artery on the right side. Moyamoya-like vessels were seen in the basal ganglionic region. Left internal carotid angiography also showed a stenosis of the internal carotid artery and anterior cerebral artery as well as a severe stenosis of the middle cerebral artery on the left side. Moyamoya-like vessels were seen in the basal ganglionic region. Leptomeningeal anastomose and transdural anastomose were bilaterally seen. These arterial occlusion and stenotic phenomenon corresponded to a previous radiation field. These Moyamoya-like vessels with arterial stenosis and occlusion were thought to be due to radiation-induced vasculopathy, because a previous cerebral angiography showed a normal caliber of cerebral arteries. This patient showed that patients with radiation therapy in their early childhood should be carefully observed considering the possibility of the phenomenon. (author)

  18. Parkinsonism plus syndrome - A review

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    Mitra K

    2003-04-01

    Full Text Available Parkinsonism plus syndrome is a group of heterogeneous degenerative neurological disorders, which differ from the classical idiopathic Parkinson's disease in certain associated clinical features, poor response to levodopa, distinctive pathological characteristics and poor prognosis. Associated clinical features include symmetrical onset, infrequent or atypical tremor, prominent rigidity in axial musculature, bradykinesia, early postural instability, supranuclear gaze palsy, early autonomic failure, pyramidal affection, cerebellar involvement, alien limb phenomenon, apraxia and significant early cognitive dysfunction in some cases. Progressive supranuclear palsy (PSP, multiple system atrophy (MSA and dementia with Lewy body disease (DLB are commoner disorders. Less frequent disorders are cortico-basal ganglionic degeneration (CBGD, frontotemporal dementia with chromosome 17 (FTDP-17, Pick's disease, parkinsonian-dementia complex of Guam, Pallidonigral degeneration, Wilson's disease and a rigid variant of Huntington's disease. During the last 3 decades, major progress has been made in understanding PSP, CBGD and FTDP-17, which are tau disorders. MSA and DLB together with idiopathic Parkinson's disease are called a-synucleinopathies. Recent studies show that the diagnosis of these Parkinsonism plus syndromes improves when strict diagnostic criteria are used. However, unusual presentations may pose a diagnostic challenge. The shortcomings of the current studies demand the need for further research to identify biologic markers that may allow earlier diagnosis, and understanding of the factors leading to a-synuclein or tau aggregation. Identification of therapeutic strategies that may prevent the aggregation of these proteins and rescue dysfunctional cells has been stressed. This review focuses on the advances in the clinical, neuroimaging, pathologic, genetic and management aspects of these disorders.

  19. Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.

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    Craig L Bennett

    Full Text Available Senataxin is a large 303 kDa protein linked to neuron survival, as recessive mutations cause Ataxia with Oculomotor Apraxia type 2 (AOA2, and dominant mutations cause amyotrophic lateral sclerosis type 4 (ALS4. Senataxin contains an amino-terminal protein-interaction domain and a carboxy-terminal DNA/RNA helicase domain. In this study, we focused upon the common ALS4 mutation, L389S, by performing yeast two-hybrid screens of a human brain expression library with control senataxin or L389S senataxin as bait. Interacting clones identified from the two screens were collated, and redundant hits and false positives subtracted to yield a set of 13 protein interactors. Among these hits, we discovered a highly specific and reproducible interaction of L389S senataxin with a peptide encoded by the antisense sequence of a brain-specific non-coding RNA, known as BCYRN1. We further found that L389S senataxin interacts with other proteins containing regions of conserved homology with the BCYRN1 reverse complement-encoded peptide, suggesting that such aberrant protein interactions may contribute to L389S ALS4 disease pathogenesis. As the yeast two-hybrid screen also demonstrated senataxin self-association, we confirmed senataxin dimerization via its amino-terminal binding domain and determined that the L389S mutation does not abrogate senataxin self-association. Finally, based upon detection of interactions between senataxin and ubiquitin-SUMO pathway modification enzymes, we examined senataxin for the presence of ubiquitin and SUMO monomers, and observed this post-translational modification. Our senataxin protein interaction study reveals a number of features of senataxin biology that shed light on senataxin normal function and likely on senataxin molecular pathology in ALS4.

  20. Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

    Science.gov (United States)

    2016-09-01

    -Hirschhorn Syndrome; 4p16.3 Microduplication Syndrome; 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome; Autosomal Recessive Stickler Syndrome; Stickler Syndrome Type 2; Stickler Syndrome Type 1; Stickler Syndrome; Mucolipidosis Type 4; X-linked Spinocerebellar Ataxia Type 4; X-linked Spinocerebellar Ataxia Type 3; X-linked Intellectual Disability - Ataxia - Apraxia; X-linked Progressive Cerebellar Ataxia; X-linked Non Progressive Cerebellar Ataxia; X-linked Cerebellar Ataxia; Vitamin B12 Deficiency Ataxia; Toxic Exposure Ataxia; Unclassified Autosomal Dominant Spinocerebellar Ataxia; Thyroid Antibody Ataxia; Sporadic Adult-onset Ataxia of Unknown Etiology; Spinocerebellar Ataxia With Oculomotor Anomaly; Spinocerebellar Ataxia With Epilepsy; Spinocerebellar Ataxia With Axonal Neuropathy Type 2; Spinocerebellar Ataxia Type 8; Spinocerebellar Ataxia Type 7; Spinocerebellar Ataxia Type 6; Spinocerebellar Ataxia Type 5; Spinocerebellar Ataxia Type 4; Spinocerebellar Ataxia Type 37; Spinocerebellar Ataxia Type 36; Spinocerebellar Ataxia Type 35; Spinocerebellar Ataxia Type 34; Spinocerebellar Ataxia Type 32; Spinocerebellar Ataxia Type 31; Spinocerebellar Ataxia Type 30; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 29; Spinocerebellar Ataxia Type 28; Spinocerebellar Ataxia Type 27; Spinocerebellar Ataxia Type 26; Spinocerebellar Ataxia Type 25; Spinocerebellar Ataxia Type 23; Spinocerebellar Ataxia Type 22; Spinocerebellar Ataxia Type 21; Spinocerebellar Ataxia Type 20; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 19/22; Spinocerebellar Ataxia Type 18; Spinocerebellar Ataxia Type 17; Spinocerebellar Ataxia Type 16; Spinocerebellar Ataxia Type 15/16; Spinocerebellar Ataxia Type 14; Spinocerebellar Ataxia Type 13; Spinocerebellar Ataxia Type 12; Spinocerebellar Ataxia Type 11; Spinocerebellar Ataxia Type 10; Spinocerebellar Ataxia Type 1 With Axonal Neuropathy; Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia - Unknown; Spinocerebellar Ataxia - Dysmorphism

  1. A case of atypical progressive supranuclear palsy

    Directory of Open Access Journals (Sweden)

    Spaccavento S

    2013-12-01

    Full Text Available Simona Spaccavento, Marina Del Prete, Angela Craca, Anna Loverre IRCCS Salvatore Maugeri Foundation, Cassano Murge, Bari, Italy Background: Progressive supranuclear palsy (PSP is a neurodegenerative extrapyramidal syndrome. Studies have demonstrated that PSP can present clinically as an atypical dementing syndrome dominated by a progressive apraxia of speech (AOS and aphasia. Aim: We aimed to investigate the clinical presentation of PSP, using a comprehensive multidimensional evaluation, and the disease response to various pharmacological treatments. Methods: A 72-year-old right-handed male, with 17 years education, who first presented with aphasia, AOS, depression, apathy, and postural instability at 69 years; a complete neuropsychological evaluation, tapping the different cognitive domains, was performed. Results: Testing revealed a moderate global cognitive deficit (Mini-Mental State Examination test score =20, low memory test scores (story recall, Rey’s 15-word Immediate and Delayed Recall, and poor phonemic and semantic fluency. The patient’s language was characterized by AOS, with slow speech rate, prolonged intervals between syllables and words, decreased articulatory accuracy, sound distortions, and anomia. Behavioral changes, such as depression, anxiety, apathy, and irritability, were reported. The neurological examination revealed supranuclear vertical gaze palsy, poor face miming, and a mild balance deficit. Magnetic resonance imaging showed only widespread cortical atrophy. Single photon emission computed tomography demonstrated left > right frontotemporal cortical abnormalities. After 6 months, a further neuropsychological assessment showed a progression in cognitive deficits, with additional attention deficits. The patient reported frequent falls, but the neurological deficits remained unchanged. Neuroimaging tests showed the same brain involvement. Conclusion: Our case highlights the heterogeneity of the clinical features in

  2. EVALUATION OF THE LANGUAGE COMMUNICATIONAL SKILLS OF PERSONS WITH BROCA’S APHASIA AS A CONCOMITANCE FROM CEREBROVASCULAR INSULT

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    Ilija TODOROV

    2011-04-01

    Full Text Available Persons with Broca’s aphasia socialize in societymuch faster, because of the early rehabilitationtreatment using the speech therapy. In thebeginning of the illness, the voice production isarduous and the speech is with variable prosody.The patient expresses himself exceptionally withnouns and working verbs, also using mimics andgestures.The main purpose of the research is the evaluationof the communicational language skills of personswith Broca’s aphasia, even in the acuteness of theillness. The goal is also to examine and establishthe opinion of persons with Broca’s aphasia, theirfamily members and medical staff regarding theuse of early rehabilitation treatment with speechtherapy.The basic tasks of this research are to determinewhether the disturbance of verbal interaction isoften followed with speech apraxia andagrammatism among the persons suffering fromBroca’s aphasia. Two types of examinees areincluded in the research. The survey was conductedin Skopje and in a period of three months.The data gained from the research are grouped,tabulated, processed and graphically shownusing the program Microsoft Office Excel 2003.The differecnces in the data of the examinees isanalyzed with Chi square test with level of significanceр<0.05. From the analyzis and interpretationof the results we can see that personswith Broca’s aphasia, although produce incompletesentences, they verbalise sentences withcontent which are informative for their interlocutorand the auditory understending is less demagedthan the expressive funcion of the speech.In conclusion, the study found that earlyrehabilitation treatment using speech therapyfor persons with Broca’s aphasia resulted infaster improvements and better capabilities forspeech-language communicational skills.

  3. Pathology and sensitivity of current clinical criteria in corticobasal syndrome.

    Science.gov (United States)

    Ouchi, Haruka; Toyoshima, Yasuko; Tada, Mari; Oyake, Mutsuo; Aida, Izumi; Tomita, Itsuro; Satoh, Akira; Tsujihata, Mitsuhiro; Takahashi, Hitoshi; Nishizawa, Masatoyo; Shimohata, Takayoshi

    2014-02-01

    The aim of this study was to investigate corticobasal syndrome with respect to underlying pathologies, the ability of current clinical criteria to detect early stages of disease, and symptoms and signs predicting background pathologies. We retrospectively analyzed the clinicopathological findings from patients with corticobasal syndrome. We also analyzed whether those findings fulfilled the diagnostic criteria for corticobasal degeneration (CBD). Finally, we investigated characteristic clinical features that are specific to each background pathology. Of 10 consecutive autopsied patients who had corticobasal syndrome (mean age ± standard deviation, 67.9 ± 9.3 years; male:female ratio, 6:4), three had corticobasal degeneration pathology, three had progressive supranuclear palsy, three had Alzheimer's disease, and one had atypical four-repeat tauopathy. Nine patients fulfilled Mayo criteria, and all 10 patients fulfilled modified Cambridge criteria at the later stage, but only two patients fulfilled either clinical criteria within 2 years of disease onset. Five patients fulfilled the clinical criteria for possible CBD (p-CBD), and one patient fulfilled the clinical research criteria for probable sporadic CBD (cr-CBD) at the later stage. Only two patients fulfilled the criteria for either p-CBD or cr-CBD within 2 years of disease onset. Although we could not find any predictive characteristic clinical features that were specific to CBD pathology, only patients with progressive supranuclear palsy developed apraxia of eyelid opening and cerebellar ataxia. Myoclonus and memory impairment, especially if they appear at an early stage of the disease, may predict Alzheimer's disease pathology. Sensitivity of the available clinical criteria for corticobasal syndrome was poor within 2 years of disease onset.

  4. POST-STROKE WRITING AND READING DISORDERS

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    Sinanović Osman

    2013-01-01

    Full Text Available The writing and reading disorders in stroke patients (alexias, agraphias and acalculias are more frequent than verified in routine exam, not only in the less developed but also in large neurological departments. Alexia is an acquired type of sensory aphasia where damage to the brain causes a patient to lose the ability to read. It is also called word blindness, text blindness orvisual aphasia. Alexia refers to an acquired inability to read caused by brain damage and must be distinguished from dyslexia, a developmental abnormality in which the individual is unable to learn to read, and from illiteracy, which reflects a poor educational back-ground. Most aphasics are also alexic, but alexia may occur in the absence of aphasia and may occasionally be the soledisability resulting from specific brain lesions. There are different classifications of alexias. Traditionally, the alexias are divided into three categories: pure alexia with agraphia, pure alexia without agraphia, and alexia associated with aphasia (“aphasic alexia”. Agraphia is defined as the disruption of previously intact writing skills by brain damage. Writing involves several elements—language processing, spelling, visual perception, visual-spatial orientation for graphic symbols, motor planning, and motor control of writing. A disturbance of any of these processes can impair writing. Agraphia may occur by itself or as association with aphasias, alexia, agnosia and apraxia. Agraphia can also result from “peripheral” involvement of the motor act of writing. Like alexia, agraphia must be distinguished from illiteracy, where writing skills were never developed. Acalculia is a clinical syndrome of acquired deficits in mathematical calculation, either mentally or with paper and pencil. This language disturbances can be classified differently, but there are three principal types of acalculia: acalculia associated with language disturbances, including number paraphasia, number

  5. [Motor amusia following a right temporal lobe hemorrhage--a case report].

    Science.gov (United States)

    Takeda, K; Bandou, M; Nishimura, Y

    1990-01-01

    A 65-year-old female was admitted to our hospital because of left hemiparesis with sudden onset one week before. She was congenitally right-handed. She had been a teacher of Japanese string instrument (samisen) playing and been able to sing Japanese traditional songs well. A tape on which she had recorded her songs one year before the admission also proved her to be a good singer. Neurological examination on admission revealed almost normal findings except for minimal weakness in her left hand fingers. Right temporal lobe hemorrhage was revealed by CT scan. One month after the admission, she complained that she was unable to sing her songs and to play samisen as she used to do. Her intelligence was normal (WAIS VIQ116, PIQ108) and there were no abnormal findings as follows: aprosodia, aphasia, agraphia, memory disturbance, agnosia and ideational, ideomotor, constructional or limb-kinetic apraxia. She could point out her errors while singing. However, musical receptive function was slightly disturbed with tonal memory in Seashore test. When she was asked to sing a song without any instrumental support, she hummed a melody occasionally with wrong pitch, but rhythmically. After hearing a song she knew well, she reproduced it with slight improvement. With the vocal or the instrumental accompaniment, she could sing fairly well. She had some mistakes of pitch while playing a samisen. MRI was performed one year and a half after the brain hemorrhage. It displayed a thin linear of hematoma in the white matter of the right upper temporal and transverse gyrus. It was proved in our case that motor amusia with minimal musical receptive dysfunction could appear following a cerebral lesion and musical function might be independent of intelligence or verbal function. PMID:2184966

  6. CBF tomograms with [/sup 99m/Tc-HM-PAO in patients with dementia (Alzheimer type and HIV) and Parkinson's disease--initial results

    International Nuclear Information System (INIS)

    We present preliminary data on the utility of functional brain imaging with [99mTc]-d,l-HM-PAO and single photon emission computed tomography (SPECT) in the study of patients with dementia of the Alzheimer type (DAT), HIV-related dementia syndrome, and the on-off syndrome of Parkinson's disease. In comparison with a group of age-matched controls, the DAT patients revealed distinctive bilateral temporal and posterior parietal deficits, which correlate with detailed psychometric evaluation. Patients with amnesia as the main symptom (group A) showed bilateral mesial temporal lobe perfusion deficits (p less than 0.02). More severely affected patients (group B) with significant apraxia, aphasia, or agnosia exhibited patterns compatible with bilateral reduced perfusion in the posterior parietal cortex, as well as reduced perfusion to both temporal lobes, different from the patients of the control group (p less than 0.05). SPECT studies of HIV patients with no evidence of intracraneal space occupying pathology showed marked perfusion deficits. Patients with Parkinson's disease and the on-off syndrome studied during an on phase (under levodopa therapy) and on another occasion after withdrawal of levodopa (off) demonstrated a significant change in the uptake of [99mTc]-d,l-HM-PAO in the caudate nucleus (lower on off) and thalamus (higher on off). These findings justify the present interest in the functional evaluation of the brain of patients with dementia. [99mTc]-d,l-HM-PAO and regional cerebral blood flow (rCBF)/SPECT appear useful and highlight individual disorders of flow in a variety of neuropsychiatric conditions

  7. Clinical application of RapidArc volumetric modulated arc therapy as a component in whole brain radiation therapy for poor prognostic, four or more multiple brain metastases

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Heon; Lee, Kyu Chan; Choi, Jin Ho; Kim, Hye Young; Lee, Seok Ho; Sung, Ki Hoon; Kim, Yun Mi [Gachon University Gil Hospital, Incheon (Korea, Republic of)

    2012-06-15

    To determine feasibility of RapidArc in sequential or simultaneous integrated tumor boost in whole brain radiation therapy (WBRT) for poor prognostic patients with four or more brain metastases. Nine patients with multiple ({>=}4) brain metastases were analyzed. Three patients were classified as class II in recursive partitioning analysis and 6 were class III. The class III patients presented with hemiparesis, cognitive deficit, or apraxia. The ratio of tumor to whole brain volume was 0.8-7.9%. Six patients received 2-dimensional bilateral WBRT, (30 Gy/10- 12 fractions), followed by sequential RapidArc tumor boost (15-30 Gy/4-10 fractions). Three patients received RapidArc WBRT with simultaneous integrated boost to tumors (48-50 Gy) in 10-20 fractions. The median biologically effective dose to metastatic tumors was 68.1 Gy10 and 67.2 Gy10 and the median brain volume irradiated more than 100 Gy3 were 1.9% (24 cm3) and 0.8% (13 cm3) for each group. With less than 3 minutes of treatment time, RapidArc was easily applied to the patients with poor performance status. The follow-up period was 0.3-16.5 months. Tumor responses among the 6 patients who underwent follow-up magnetic resonance imaging were partial and stable in 3 and 3, respectively. Overall survival at 6 and 12 months were 66.7% and 41.7%, respectively. The local progression-free survival at 6 and 12 months were 100% and 62.5%, respectively. RapidArc as a component in whole brain radiation therapy for poor prognostic, multiple brain metastases is an effective and safe modality with easy application.

  8. Guidelines and quality measures for the diagnosis of optic ataxia

    Directory of Open Access Journals (Sweden)

    Svenja eBorchers

    2013-07-01

    Full Text Available Since the first description of a systematic mis-reaching by Bálint in 1909, a reasonable number of patients showing a similar phenomenology, later termed optic ataxia (OA, has been described. However, there is surprising inconsistency regarding the behavioral measures that are used to detect OA in experimental and clinical reports, if the respective measures are reported at all. A typical screening method, that was presumably used by most researchers and clinicians, reaching for a target object in the peripheral visual space, has never been evaluated. We developed a set of instructions and evaluation criteria for the scoring of a semi-standardized version of this reaching task. We tested 36 healthy participants, a group of 52 acute and chronic stroke patients, and 24 patients suffering from cerebellar ataxia. We found a high interrater reliability and a moderate test-retest reliability comparable to other clinical instruments in the stroke sample. The calculation of cut-off thresholds based on healthy control and cerebellar patient data showed an unexpected high number of false positives in these samples due to individual outliers that made a considerable number of errors in peripheral reaching. This study provides first empirical data from large control and patient groups for a screening procedure that seems to be widely used but rarely explicity reported and prepares the grounds for its use as a standard tool for the description of patients who are included in single case or group studies addressing optic ataxia similar to the use of neglect, extinction, or apraxia screening tools.

  9. Samuel Alexander Kinnier Wilson. Wilson's disease, Queen Square and neurology.

    Science.gov (United States)

    Broussolle, E; Trocello, J-M; Woimant, F; Lachaux, A; Quinn, N

    2013-12-01

    This historical article describes the life and work of the British physician Samuel Alexander Kinnier Wilson (1878-1937), who was one of the world's greatest neurologists of the first half of the 20th century. Early in his career, Wilson spent one year in Paris in 1903 where he learned from Pierre-Marie at Bicêtre Hospital. He subsequently retained uninterrupted links with French neurology. He also visited in Leipzig the German anatomist Paul Flechsig. In 1904, Wilson returned to London, where he worked for the rest of his life at the National Hospital for the Paralysed and Epileptic (later the National Hospital for Nervous Diseases, and today the National Hospital for Neurology and Neurosurgery) in Queen Square, and also at Kings' College Hospital. He wrote on 'the old motor system and the new', on disorders of motility and muscle tone, on the epilepsies, on aphasia, apraxia, tics, and pathologic laughing and crying, and most importantly on Wilson's disease. The other objective of our paper is to commemorate the centenary of Wilson's most important work published in 1912 in Brain, and also in Revue Neurologique, on an illness newly recognized and characterized by him entitled "Progressive lenticular degeneration, a familial nervous disease associated with liver cirrhosis". He analyzed 12 clinical cases, four of whom he followed himself, but also four cases previously published by others and a further two that he considered in retrospect had the same disease as he was describing. The pathological profile combined necrotic damage in the lenticular nuclei of the brain and hepatic cirrhosis. This major original work is summarized and discussed in the present paper. Wilson not only delineated what was later called hepato-lenticular degeneration and Wilson's disease, but also introduced for the first time the terms extrapyramidal syndrome and extrapyramidal system, stressing the role of the basal ganglia in motility. The present historical work emphasizes the special

  10. Mild Developmental Foreign Accent Syndrome and Psychiatric Comorbidity: Altered White Matter Integrity in Speech and Emotion Regulation Networks.

    Science.gov (United States)

    Berthier, Marcelo L; Roé-Vellvé, Núria; Moreno-Torres, Ignacio; Falcon, Carles; Thurnhofer-Hemsi, Karl; Paredes-Pacheco, José; Torres-Prioris, María J; De-Torres, Irene; Alfaro, Francisco; Gutiérrez-Cardo, Antonio L; Baquero, Miquel; Ruiz-Cruces, Rafael; Dávila, Guadalupe

    2016-01-01

    Foreign accent syndrome (FAS) is a speech disorder that is defined by the emergence of a peculiar manner of articulation and intonation which is perceived as foreign. In most cases of acquired FAS (AFAS) the new accent is secondary to small focal lesions involving components of the bilaterally distributed neural network for speech production. In the past few years FAS has also been described in different psychiatric conditions (conversion disorder, bipolar disorder, and schizophrenia) as well as in developmental disorders (specific language impairment, apraxia of speech). In the present study, two adult males, one with atypical phonetic production and the other one with cluttering, reported having developmental FAS (DFAS) since their adolescence. Perceptual analysis by naïve judges could not confirm the presence of foreign accent, possibly due to the mildness of the speech disorder. However, detailed linguistic analysis provided evidence of prosodic and segmental errors previously reported in AFAS cases. Cognitive testing showed reduced communication in activities of daily living and mild deficits related to psychiatric disorders. Psychiatric evaluation revealed long-lasting internalizing disorders (neuroticism, anxiety, obsessive-compulsive disorder, social phobia, depression, alexithymia, hopelessness, and apathy) in both subjects. Diffusion tensor imaging (DTI) data from each subject with DFAS were compared with data from a group of 21 age- and gender-matched healthy control subjects. Diffusion parameters (MD, AD, and RD) in predefined regions of interest showed changes of white matter microstructure in regions previously related with AFAS and psychiatric disorders. In conclusion, the present findings militate against the possibility that these two subjects have FAS of psychogenic origin. Rather, our findings provide evidence that mild DFAS occurring in the context of subtle, yet persistent, developmental speech disorders may be associated with structural brain

  11. Mild developmental foreign accent syndrome and psychiatric comorbidity: Altered white matter integrity in speech and emotion regulation networks

    Directory of Open Access Journals (Sweden)

    Marcelo L Berthier

    2016-08-01

    Full Text Available Foreign accent syndrome (FAS is a speech disorder that is defined by the emergence of a peculiar manner of articulation and intonation which is perceived as foreign. In most cases of acquired FAS (AFAS the new accent is secondary to small focal lesions involving components of the bilaterally distributed neural network for speech production. In the past few years FAS has also been described in different psychiatric conditions (conversion disorder, bipolar disorder, schizophrenia as well as in developmental disorders (specific language impairment, apraxia of speech. In the present study, two adult males, one with atypical phonetic production and the other one with cluttering, reported having developmental FAS (DFAS since their adolescence. Perceptual analysis by naïve judges could not confirm the presence of foreign accent, possibly due to the mildness of the speech disorder. However, detailed linguistic analysis provided evidence of prosodic and segmental errors previously reported in AFAS cases. Cognitive testing showed reduced communication in activities of daily living and mild deficits related to psychiatric disorders. Psychiatric evaluation revealed long-lasting internalizing disorders (neuroticism, anxiety, obsessive-compulsive disorder, social phobia, depression, alexithymia, hopelessness, and apathy in both subjects. Diffusion tensor imaging (DTI data from each subject with DFAS were compared with data from a group of 21 age- and gender-matched healthy control subjects. Diffusion parameters (MD, AD, and RD in predefined regions of interest showed changes of white matter microstructure in regions previously related with AFAS and psychiatric disorders. In conclusion, the present findings militate against the possibility that these two subjects have FAS of psychogenic origin. Rather, our findings provide evidence that mild DFAS occurring in the context of subtle, yet persistent, developmental speech disorders may be associated with

  12. Mild Developmental Foreign Accent Syndrome and Psychiatric Comorbidity: Altered White Matter Integrity in Speech and Emotion Regulation Networks

    Science.gov (United States)

    Berthier, Marcelo L.; Roé-Vellvé, Núria; Moreno-Torres, Ignacio; Falcon, Carles; Thurnhofer-Hemsi, Karl; Paredes-Pacheco, José; Torres-Prioris, María J.; De-Torres, Irene; Alfaro, Francisco; Gutiérrez-Cardo, Antonio L.; Baquero, Miquel; Ruiz-Cruces, Rafael; Dávila, Guadalupe

    2016-01-01

    Foreign accent syndrome (FAS) is a speech disorder that is defined by the emergence of a peculiar manner of articulation and intonation which is perceived as foreign. In most cases of acquired FAS (AFAS) the new accent is secondary to small focal lesions involving components of the bilaterally distributed neural network for speech production. In the past few years FAS has also been described in different psychiatric conditions (conversion disorder, bipolar disorder, and schizophrenia) as well as in developmental disorders (specific language impairment, apraxia of speech). In the present study, two adult males, one with atypical phonetic production and the other one with cluttering, reported having developmental FAS (DFAS) since their adolescence. Perceptual analysis by naïve judges could not confirm the presence of foreign accent, possibly due to the mildness of the speech disorder. However, detailed linguistic analysis provided evidence of prosodic and segmental errors previously reported in AFAS cases. Cognitive testing showed reduced communication in activities of daily living and mild deficits related to psychiatric disorders. Psychiatric evaluation revealed long-lasting internalizing disorders (neuroticism, anxiety, obsessive-compulsive disorder, social phobia, depression, alexithymia, hopelessness, and apathy) in both subjects. Diffusion tensor imaging (DTI) data from each subject with DFAS were compared with data from a group of 21 age- and gender-matched healthy control subjects. Diffusion parameters (MD, AD, and RD) in predefined regions of interest showed changes of white matter microstructure in regions previously related with AFAS and psychiatric disorders. In conclusion, the present findings militate against the possibility that these two subjects have FAS of psychogenic origin. Rather, our findings provide evidence that mild DFAS occurring in the context of subtle, yet persistent, developmental speech disorders may be associated with structural brain

  13. Japanese encephalitis (JE) part II: 14 years' follow-up of survivors.

    Science.gov (United States)

    Sarkari, N B S; Thacker, A K; Barthwal, S P; Mishra, V K; Prapann, Shiv; Srivastava, Deepak; Sarkari, M

    2012-01-01

    Japanese encephalitis, the commonest Arbovirus encephalitis, has been endemic in many parts of Asia, the Pacific Islands, and India; also, there have been many epidemics. Most of the post JE cases have been associated with neurological and neuropsychiatric deficits but have not been properly classified and followed. Practically all the previous studies were in children or young adults. The aim of this study, involving only adult cases, the largest ever being reported, has been to follow the 688/1,199 survivors of JE patients out of 1,282 of acute cases admitted during four epidemics for a period of 14 years after properly classifying the sequelae. This prospective study was conducted in B.R.D. Medical College Gorakhpur (India), involving 665/688 post JE cases with neuropsychiatric deficits from four epidemics of 1978, 1980, 1988 and 1989 which were properly classified in nine groups. While the first epidemic of 1978 was being studied, more disastrous episodes flared up and the patients were subsequently added. Hence, the total duration of this prospective study was from November 1978 to December 2003. There were 14 defaulted initially from 688 followed (23/688 without sequelae and 665/688 with neuropsychiatric deficits), and later 130 were lost from time to time at various stages of follow up. Four out of 23/688 discharged without any deficit had to be readmitted for bizarre movements, assaultative behaviour and euphoria without fever and altered sensorium. All of them improved by symptomatic treatment. Progressive improvement occurred in all the parameters consisting of psychological disturbances, higher cerebral dysfunction, speech disorders (dysphonia, dysarthria, dysphasias, apraxia and agnosia), extra pyramidal, pyramidal features, and hypothalamic disturbances, cranial nerves including pupils and fundi and seizures. Maximum cases improved between 6 months (55%) to 1 year (78%). Only some features improved between 5 to 14 years. Four patients of hemiplegia

  14. Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves.

    Science.gov (United States)

    Pal, D K; Li, W; Clarke, T; Lieberman, P; Strug, L J

    2010-11-01

    We recently showed genomewide linkage of centrotemporal sharp waves (CTS) in classic Rolandic epilepsy (RE) families to chromosome 11p13, and fine-mapped this locus to variants in the ELP4 gene. Speech sound disorder (SSD) is a common comorbidity in RE subjects, of unknown etiology, which co-aggregates in family members in a manner that could hypothetically be explained by shared underlying genetic risk with CTS. Furthermore, the neural mechanism of SSD is unknown, although individuals with rare, Mendelian forms of RE are described with severe verbal and oromotor apraxia. We therefore first performed genomewide linkage analysis for SSD, operationally defined as clinical history consistent with ICD-10 speech articulation disorder, in 38 families singly ascertained through a proband with RE. We tested the hypothesis of shared genetic risk with CTS at the 11p13 locus. In the second part of the study we used computerized acoustic analysis of recorded speech to test the hypothesis of dyspraxia as a mechanism for SSD in a smaller subset of RE probands and relatives. In two-point and multipoint LOD score analysis, we found that evidence for linkage to the 11p13 locus increased substantially when the phenotype was broadened from CTS to CTS/SSD. In multipoint analysis, the LOD score rose by 3.2 to HLOD 7.54 at D11S914 for CTS/SSD, the same marker at which multipoint linkage maximized for CTS alone. Non-parametric, affected-only methods in a sub-set of the data provide further confirmatory evidence for pleiotropy. In acoustic analysis there were voice-onset time abnormalities in 10/18 RE probands, 8/16 siblings and 5/15 parents, providing evidence of breakdown in the spatial/temporal properties of speech articulation consistent with a dyspraxic mechanism. The results from genetic and physiological studies suggest a pleiotropic role for the 11p13 locus in the development of both SSD and CTS, and also indicate a dyspraxic mechanism for the SSD linked to 11p13. Taken together

  15. Mastication dyspraxia: a neurodevelopmental disorder reflecting disruption of the cerebellocerebral network involved in planned actions.

    Science.gov (United States)

    Mariën, Peter; Vidts, Annelies; Van Hecke, Wim; De Surgeloose, Didier; De Belder, Frank; Parizel, Paul M; Engelborghs, Sebastiaan; De Deyn, Peter P; Verhoeven, Jo

    2013-04-01

    This paper reports the longitudinal clinical, neurocognitive, and neuroradiological findings in an adolescent patient with nonprogressive motor and cognitive disturbances consistent with a diagnosis of developmental coordination disorder (DCD). In addition to prototypical DCD, the development of mastication was severely impaired, while no evidence of swallowing apraxia, dysphagia, sensorimotor disturbances, abnormal tone, or impaired general cognition was found. He suffered from bronchopulmonary dysplasia and was ventilated as a newborn for 1.5 months. At the age of 3 months, a ventriculoperitoneal shunt was surgically installed because of obstructive hydrocephalus secondary to perinatal intraventricular bleeding. At the age of 5 years, the patient's attempts to masticate were characterized by rough, effortful, and laborious biting movements confined to the vertical plane. Solid food particles had a tendency to get struck in his mouth and there was constant spillage. As a substitute for mastication, he moved the unground food with his fingers in a lateral direction to the mandibular and maxillary vestibule to externally manipulate and squeeze the food between cheek and teeth with the palm of his hand. Once the food was sufficiently soft, the bolus was correctly transported by the tongue in posterior direction and normal deglutition took place. Repeat magnetic resonance imaging (MRI) during follow-up disclosed mild structural abnormalities as the sequelae of the perinatal intraventricular bleeding, but this could not explain impaired mastication behavior. Quantified Tc-99m-ethylcysteinate dimer single-photon emission computed tomography (Tc-99m-ECD SPECT), however, revealed decreased perfusion in the left cerebellar hemisphere, as well as in both inferior lateral frontal regions, both motor cortices, and the right anterior and lateral temporal areas. Anatomoclinical findings in this patient with DCD not only indicate that the functional integrity of the

  16. Financial Imbalances and Macro-prudential Policies

    Directory of Open Access Journals (Sweden)

    Polikarpova Olga S.

    2015-11-01

    Full Text Available The credit crisis and its transformation into a sovereign debt crisis have illustrated the limited character of the traditional macro financial politics. The financial crisis has shown that the priority of price stability does not guarantee macroeconomic stability. Revision of the goals and objectives of the monetary and credit policy is being carried out in many countries. In order to ensure macroeconomic stability, central banks have to use new instruments considering financial stability as an additional object. Since 2009 the IMF recommends central banks to use macro-prudential instruments for reducing macro-financial risks and imbalances in the financial system structure. The effectiveness of macro-prudential policy depends on its calibration with the monetary and credit policy. The growth of financial imbalances in the first decade after the adoption of the euro, presence of contradictory fiscal policies, deployment of a spiral of rapid crediting and price inflation have led to apraxia in the monetary and credit policy, and fiscal policy was limited by institutional arrangements. Accumulating funds during the budget surplus the countries-members of the European Monetary System (EMS attempted to reduce asymmetric shocks. The priority of price stability in the EMS had been achieved but the economies of these countries suffered from financial imbalances. Macro-prudential policy is aimed at prevention and mitigation of systemic risk, plays a significant role in reforming the new policy of central banks. That is why European countries are developing new methods and an institutional framework for the implementation of a new macro-prudential policy. Problems of structural arbitration and the possibility of emergence of new financial imbalances in the EMS are becoming increasingly real. The flow of financial capitals and financial institutions to more lenient jurisdictions is connected with the establishment of macro-prudential policy. The macro

  17. Ataxia crónica en pediatría

    Directory of Open Access Journals (Sweden)

    Ricardo Erazo Torricelli

    2013-09-01

    Full Text Available Las ataxias crónicas constituyen un grupo heterogéneo de enfermedades, que afectan al niño a diferentes edades. Así las formas congénitas, generalmente no progresivas, se observan desde los primeros meses de vida y se expresan por hipotonía y retraso motor, mucho antes de que la ataxia se haga evidente. La resonancia magnética cerebral puede ser diagnóstica en algunos cuadros, como ocurre con el síndrome de Joubert. El grupo de ataxias hereditarias progresivas, en constante expansión, suelen comenzar después del período del lactante. Los signos clínicos destacables son la apraxia ocular y la inestabilidad de la marcha que pueden asociarse a telangiectasias oculocutáneas (ataxia-telangiectasia o a neuropatía sensitiva (ataxia de Friedreich. En esta revisión se describen en forma sucinta las ataxias congénitas y en forma más detallada las causas principales de ataxias hereditarias progresivas autosómicas recesivas, autosómicas dominantes y mitocondriales. Se destaca la importancia del estudio genético, que es la clave para lograr el diagnóstico en la mayoría de estas enfermedades. Aunque aún no hay tratamiento para la mayoría de las ataxias hereditarias progresivas, algunas sí lo tienen, como la enfermedad de Refsum, déficit de vitamina E, déficit de Coenzima Q10, por lo cual el diagnóstico en estos casos es aún más relevante. En la actualidad, el diagnóstico de los cuadros de ataxia hereditaria del niño aún no tratable es fundamental para lograr un manejo adecuado, determinar un pronóstico preciso y dar a la familia un consejo genético oportuno.

  18. Clinical features of the variants of benign childhood epilepsy with central temporal spikes: 12 cases report%儿童良性癫痫伴中央颞区棘波变异型12例临床分析

    Institute of Scientific and Technical Information of China (English)

    宁泽淑; 杨理明; 江志; 陈波; 张洁

    2015-01-01

    Objective To study the clinical features of the variants of benign childhood epilepsy with central temporal spikes (BECT).Methods The clinical data of 12 hospitalized pediatric patients with BECT from Jan 2007 to Jan 2014 were retrospectively reviewed. Results There were 7 boys and 5 girls in 12 patients. The age of onset was from 3 to 9 years old. Two cases were dizygotic twins. The atypical symptoms included atypical absence of 10 cases, negative myoclonic seizure of 8 cases, speech expression disorders and oral-pharynx apraxia of 4 cases. The electroencephalography (EEG) of all 12 patients showed abundance of spike and waves (SW) in rolandic areas during wake-up and sleep. The SW index was 50%-85% during slow sleep in all patients.Conclusions The variants of BECT are often associated with EEG deterioration. Understanding the clinical featuress and EEG characteristics can help the diagnosis of BECT variants.%目的 探讨儿童良性癫痫伴中央颞区棘波(BECT)变异型的临床特征.方法 回顾性分析2007年1月至2014年1月收治的12例BECT变异型患儿的临床资料.结果 12例患儿中男7例、女5例,其中2例为双卵龙凤胎,起病年龄为3~9岁.病程中出现不典型失神10例,负性肌阵挛8例,言语障碍和口咽部失用4例.视频脑电图监测均显示清醒及睡眠期Rolandic区棘慢波大量发放,慢波睡眠期指数达50%~85%.结论 BECT变异型均伴有明显的脑电图恶化,认识其临床和脑电图变化的特点及规律,可提高对BECT变异型的诊断.

  19. 艾滋病伴发进行性多灶性白质脑病1例报道并文献复习%A case report of progressive multifocal leukoencephalopathy associated with AIDS and literature review

    Institute of Scientific and Technical Information of China (English)

    刘正琴; 徐大飞; 殷剑; 李墨; 秦巧玲; 陈海波

    2011-01-01

    Objective To enhance the cognition and the clinical diagnostic rate of progressive multifocal leukoencephalopathy (PML) associated with AIDS. Methods One case of PML associated with AIDS was presented, including clinical symptoms, physical examination and radiological manifestations. Results The patient showed many advanced cerebral cortical functional defects, such as cognitive impairment, apraxia and aphasia; right hemiplegia and bilateral proprioceptive sense decrease; the protein level in cerebrospinal fluid was increased and the brain MRI showed high T2 signals in left frontal, parietal, temporal and right juncture of temporal and occipital lobes, with no mass effect or signal enhancement. Conclusions The manifestations of PML associated with AIDS vary significantly, mainly in the impairment of advanced cerebral cortical function.For young patients with subacute progression, we should consider the possibility of PML.%目的 提高临床对艾滋病伴发的进行性多灶性白质脑病(PML)的认识,以提高其临床诊出率.方法 分析1例临床诊断为艾滋病所致的PML患者的临床表现、体格检查及影像学资料.结果 患者神经系统表现为认知功能减退,失用、失读等高级皮层功能障碍,右侧偏瘫及双侧深感觉减退.脑脊液检查示蛋白升高,余未见明显异常.头部MRI检查示左侧额叶、顶叶、颞叶及右侧颞枕交界处多发T2高信号影,无占位效应,且病灶无强化.结论 艾滋病伴发的PML临床表现多种多样,多表现为高级皮层功能减退,对年轻、亚急性起病的患者应警惕此病的可能,以免误诊漏诊.

  20. The neuropsychological and cortical metabolic changes in two patients with Benson's syndrome%Benson综合征患者两例神经心理特征与皮质代谢异常

    Institute of Scientific and Technical Information of China (English)

    高晶; 郭佳翔; 李方; 冯逢; 朱朝晖; 牛娜; 有慧; 崔丽英; 郭玉璞

    2011-01-01

    Objective Standard neuropsychological assessment plus structural and functional imaging were used in accurate diagnosis of Benson's syndrome (posterior cortical atrophy).Method Serial neuropsychological screening and integrative assessments of visual spatial function, 3D structural MRIimaging and functional FDG-PET imaging were used in two cases of Benson' s syndrome.Results The clinical signs were agnosia, optic ataxia, apraxia, alexia, agraphia and prosopagnosia.MRI imaging revealed bilateral parietal and occipital lobe atrophy.FDG-PET imaging revealed low metabolism in the posterior cortex.The agraphia was constructive: the words were correct but written in the wrong location.Conclusion Standard neuropsychological assessments can recognize the disease nature.When combined with the structural and functional imaging, a correct diagnosis of Benson's syndrome can be made.%目的 应用规范的神经心理评价结合结构影像以及功能影像正确诊断后部皮质萎缩,即Benson综合征.方法 对于综合认知功能评价证实以视空间功能异常为主要改变的2例Benson综合征患者进行系列的视空间功能检查、3D磁共振以及脱氧葡萄糖(FDG)-PET检查.结果 2例以记忆障碍为主诉就诊的患者,其中1例多次就诊于眼科诊断"视力障碍"而无其他异常发现,但经过仔细询问临床过程,规范的神经心理评价,结果证实患者有失认、视觉共济失调、失用、失读、失写(患者书写笔画正确,只是空间位置错误)等症状.2例患者MRI检查示双侧顶枕叶萎缩.FDG-PET反映顶枕皮质代谢减低,符合Benson综合征的诊断.结论 规范的神经心理评价可以正确地认识疾病本质,结构影像和功能影像对鉴别诊断Benson综合征有重要价值.

  1. Mild Developmental Foreign Accent Syndrome and Psychiatric Comorbidity: Altered White Matter Integrity in Speech and Emotion Regulation Networks.

    Science.gov (United States)

    Berthier, Marcelo L; Roé-Vellvé, Núria; Moreno-Torres, Ignacio; Falcon, Carles; Thurnhofer-Hemsi, Karl; Paredes-Pacheco, José; Torres-Prioris, María J; De-Torres, Irene; Alfaro, Francisco; Gutiérrez-Cardo, Antonio L; Baquero, Miquel; Ruiz-Cruces, Rafael; Dávila, Guadalupe

    2016-01-01

    Foreign accent syndrome (FAS) is a speech disorder that is defined by the emergence of a peculiar manner of articulation and intonation which is perceived as foreign. In most cases of acquired FAS (AFAS) the new accent is secondary to small focal lesions involving components of the bilaterally distributed neural network for speech production. In the past few years FAS has also been described in different psychiatric conditions (conversion disorder, bipolar disorder, and schizophrenia) as well as in developmental disorders (specific language impairment, apraxia of speech). In the present study, two adult males, one with atypical phonetic production and the other one with cluttering, reported having developmental FAS (DFAS) since their adolescence. Perceptual analysis by naïve judges could not confirm the presence of foreign accent, possibly due to the mildness of the speech disorder. However, detailed linguistic analysis provided evidence of prosodic and segmental errors previously reported in AFAS cases. Cognitive testing showed reduced communication in activities of daily living and mild deficits related to psychiatric disorders. Psychiatric evaluation revealed long-lasting internalizing disorders (neuroticism, anxiety, obsessive-compulsive disorder, social phobia, depression, alexithymia, hopelessness, and apathy) in both subjects. Diffusion tensor imaging (DTI) data from each subject with DFAS were compared with data from a group of 21 age- and gender-matched healthy control subjects. Diffusion parameters (MD, AD, and RD) in predefined regions of interest showed changes of white matter microstructure in regions previously related with AFAS and psychiatric disorders. In conclusion, the present findings militate against the possibility that these two subjects have FAS of psychogenic origin. Rather, our findings provide evidence that mild DFAS occurring in the context of subtle, yet persistent, developmental speech disorders may be associated with structural brain

  2. Mild Developmental Foreign Accent Syndrome and Psychiatric Comorbidity: Altered White Matter Integrity in Speech and Emotion Regulation Networks

    Science.gov (United States)

    Berthier, Marcelo L.; Roé-Vellvé, Núria; Moreno-Torres, Ignacio; Falcon, Carles; Thurnhofer-Hemsi, Karl; Paredes-Pacheco, José; Torres-Prioris, María J.; De-Torres, Irene; Alfaro, Francisco; Gutiérrez-Cardo, Antonio L.; Baquero, Miquel; Ruiz-Cruces, Rafael; Dávila, Guadalupe

    2016-01-01

    Foreign accent syndrome (FAS) is a speech disorder that is defined by the emergence of a peculiar manner of articulation and intonation which is perceived as foreign. In most cases of acquired FAS (AFAS) the new accent is secondary to small focal lesions involving components of the bilaterally distributed neural network for speech production. In the past few years FAS has also been described in different psychiatric conditions (conversion disorder, bipolar disorder, and schizophrenia) as well as in developmental disorders (specific language impairment, apraxia of speech). In the present study, two adult males, one with atypical phonetic production and the other one with cluttering, reported having developmental FAS (DFAS) since their adolescence. Perceptual analysis by naïve judges could not confirm the presence of foreign accent, possibly due to the mildness of the speech disorder. However, detailed linguistic analysis provided evidence of prosodic and segmental errors previously reported in AFAS cases. Cognitive testing showed reduced communication in activities of daily living and mild deficits related to psychiatric disorders. Psychiatric evaluation revealed long-lasting internalizing disorders (neuroticism, anxiety, obsessive-compulsive disorder, social phobia, depression, alexithymia, hopelessness, and apathy) in both subjects. Diffusion tensor imaging (DTI) data from each subject with DFAS were compared with data from a group of 21 age- and gender-matched healthy control subjects. Diffusion parameters (MD, AD, and RD) in predefined regions of interest showed changes of white matter microstructure in regions previously related with AFAS and psychiatric disorders. In conclusion, the present findings militate against the possibility that these two subjects have FAS of psychogenic origin. Rather, our findings provide evidence that mild DFAS occurring in the context of subtle, yet persistent, developmental speech disorders may be associated with structural brain

  3. Homozygosity mapping and mutation analysis of a consanguineous marriage family with autosomal recessive cerebellar ataxia%近亲婚配的常染色体隐性遗传共济失调家系致病基因纯合性定位及突变分析

    Institute of Scientific and Technical Information of China (English)

    郝莹; 顾卫红; 陈园园; 张瑾

    2015-01-01

    Objective To identify the pathogenic gene for a Chinese Han consanguineous marriage family with autosomal recessive cerebellar ataxia by homozygosity mapping and mutation analysis.Methods Six members of the family were enrolled in this study,including 3 patients,the unaffected sibling and their parents of first cousin marriage.After excluding GAA repeats mutation of FXN gene,whole-genome single nucleotide polymorphism (SNP) microarray scanning and homozygosity mapping were performed to localize the candidate gene.The coding regions and intronic flanking sequences of the candidate genes were analyzed.Results Four candidate regions were identified,including 2p25.3,9q22.2-34.3,13q12.3-14.3 and 17p13.The SETX gene localizing in 9q22.2-34.3 that is responsible for ataxia with oculomotor apraxia 2 was analyzed at first.There were 4 mutations in exon 10,including three missense mutations (c.3576T > G,p.D1192E ; c.3754G > A,p.G1252R; c.4156A > G,p.I1386V) and a deletion mutation (c.5084_5087delAGTC,p.Q1695_S1696del).Three patients were homozygous of the 4 mutations,an unaffected sibling was normal,and their parents were heterozygous of 4 mutations.Conclusions The pathogenic haplotype comprising four mutations of the SETX gene was identified in the consanguinity family.c.5084_5087delAGTC (p.Q1695_S1696del) is a novel mutation.The affected individuals of this family were characterized by mild phenotype and slow progress without oculomotor apraxia,indicating the clinical variability of the disease.%目的 针对1个一级表兄妹婚配的常染色体隐性遗传共济失调汉族家系进行致病基因的定位和突变分析.方法 将该家系的6个成员作为研究对象,包括3个患病同胞、1个健康同胞以及他们的父母(表兄妹关系).排除家系患者FXN基因内含子区GAA三核苷酸纯合突变;采用全基因组单核苷酸多态性芯片扫描结合纯合性定位方法定位候选基因;在候选区域内进行

  4. Early prognostic factors of patients with acute intracerebral hemorrhage in intensive care unit%ICU急性出血性脑卒中早期预后因素分析

    Institute of Scientific and Technical Information of China (English)

    何园园; 周相莲; 张小秋; 许林海; 张丽萍

    2016-01-01

    Objective To analyze the early prognostic factors of patients with acute intracerebral hemorrhage (AIH) in intensive care unit (ICU). Methods One hundred and ten ICH patients admitted in ICU were recruited and fol owed up for 3 months.The outcomes of patients were assessed with Simple Fugl- Meyer Assessment (FMA) and Function Independent Measure (FIM). The groups were compared with independent samples t- test and one- way ANOVA test. The multiple liner regression analysis were used to assess the independent determinants of FMA and FIM. Results The mean FMA score of patients was 51.37 ± 7.33 (range 30~77), the 25th, 50th and 75th percentile were 46, 51 and 57, respectively. The mean FIM score of patients was 76.72±10.67(range 28~99), the 25th, 50th and 75th percentile were 72, 77 and 84, respectively. Univariate analysis showed that age, lesion and volume of ICH, disorders of consciousness, pulmonary infection, early rehabilitation, limb spastic and shoulder complications were significantly associated with FMA scores (P<0.05);while age, lesion and volume of ICH, disorders of consciousness, pulmonary infection, early rehabilitation, bladder and bowel dysfunction, dysphagia, limb spastic, shoulder complications, sensory dysfunction, apraxia, aphasia and post- stroked depression (PSD) were significantly associated with FIM scores (P<0.05). Multiple linear regression analysis showed that the disorders of consciousness (t=- 2.715, P=0.008), pulmonary infection (t=- 3.475, P=0.001), early rehabilitation (t=2.338, P=0.021) and limb spastic (t=- 6.016, P=0.000) were independent determinants for FMA scores;while early rehabilitation (t=2.569, P=0.012), bladder and bowel dysfunction (t=- 2.821, P=0.006), dysphagia (t=- 5.388, P=0.000), limb spastic (t=- 2.698, P=0.008), apraxia (t=- 3.789, P=0.000) and PSD (t=- 4.805, P=0.000)FIM were independent determinants of FIM scores. Conclusion The prognosis of ICH patients in ICU are influenced by multiple factors. According to

  5. Clinical and neuroimaging characterization of posterior cortical atrophy%后皮质萎缩临床和影像学特点分析

    Institute of Scientific and Technical Information of China (English)

    石志鸿; 蔡莉; 刘帅; 王颖; 韩彤; 刘淑玲; 周玉颖; 王晓丹; 王新平

    2015-01-01

    .The above indictors were compared between PCA and AD patients.Results The most common symptoms at onset were visual space impairment,visual agnosia,apraxia,disorientation,agrapha,and acalculia in PCA patients.PCA subjects had marked impairment in visuospatial tasks,writing and calculationon neuropsychological testing.Posterior cortical atrophy were greater in PCA patients than in tAD patients (P<0.05),but atrophy in medial temporal lobe (MTL) was greater in mild AD patients than in tAD patients,and there was no significant difference in posterior cortical and MTL atrophy between moderate AD and PCA patients.The results of 18F-FDG PET showed that relative regional cerebral uptake (rCMRGlu) was decreased in temporal-parieto-occipital cortex (R> L) in PCA,but more diffused cortical decreased in typical AD.Occipical cortex(BA18,19,37) was the most obvious rCMRGlu decreasing place in PCA relative to tAD.The voxel-based automatic quantitative analysis showed that the mean PIB standardized uptake value ratio (SUVR) was higher in the inferior parietal lobe,lateral temporal cortex,middle frontal gyrus,medial prefrontal cortex,posterior cingulate cortex and precuneus,occipital lobe,supplementary motor area,and striatum in PCA and typical AD patients as compared with controls (1.6-2.6 vs.1.1-1.2,P<0.05).No significant difference in the PIB SUVR was found between the PCA and typical AD patients in all regions of interest (ROIs) (P> 0.05).Conclusions PCA has visual spatial impairment,apraxia,parietal cortex atrophy and hypometabolism in right temporo-parieto-occipital region as the main characteristics,and amyloid deposition in cortex in PCA patients is similar to that in typical AD patients.

  6. logopenic型和非流利型原发性进行性失语的认知和言语障碍的比较%Profiles of cognitive and language impairment of logopenic and non-fluent variant of primary progressive aphasia

    Institute of Scientific and Technical Information of China (English)

    李丹; 赵丽娜; 靳红梅; 张敏; 郭冬梅; 于跃怡; 武力勇; 唐毅; 李芳玉

    2016-01-01

    Objective To decipher the cognitive and linguistic feature of logopenic variant primary progressive aphasia (lv-PPA) and nonfluent variant primary progressive aphasia (nfv-PPA) and to explore the extent to which cognitive and language impairment contribute to the dysfunction of activity of daily living (ADL).Methods Seven lv-PPA and five nfv-PPA were enrolled in memory clinic of Xuanwu Hospital,Capital Medical University from January 2015 to January 2016 accordig to the international consensus criteria for PPA and its three subtypes.20 age-matched normal controls (NC) were included.Both the patients and the NC completed a battery of neuropsychological test,lingusitic test and brain magnetic resonance imaging.All the patients conducted 11C Pittsburgh compound B (PiB) PET imaging.Result Lv-PPA patients were characterized by deficits in lexical retrieval and long sentenses repetition,while nfv-PPA were with motor speech apraxia and phonetic distortion.Compared with nfv-PPA,lv-PPA patient displayed more severe cognitive deficit with younger onset of age (56 ± 5 vs 61 ± 5,P < 0.05),rapid decline of MMSE score within 1.5 years and pariental cortex dysfunctions such as ideomotor praxis,Gerstmann syndrome and contructional apraxia.Correlation analysis indicated that there was more significant association between pariental cortex dysfunction and ADL/mini-mental state examination (MMSE) than that of language deficit (r =-0.868,r =-0.922;r =0.312,r =-0.257).All seven lv-PPA were PiB-PET positive and five nfv-PPA were negative.Conclusion This study enriched the chinical and linguistic characterization of lvPPA and nfv-PPA,which has implication for diagnosis,disease management and treatment for clinicians.%目的 比较原发性进行性失语logopenic型和非流利型两种临床亚型认知和言语障碍的差异,分析言语和认知障碍对日常生活能力下降的不同影响.方法 首都医科大学宣武医院神经内科记忆门诊2015年1月至2016年1月

  7. 儿童功能性构音障碍的分子遗传学研究%Molecular genetics of functional articulation disorder in children

    Institute of Scientific and Technical Information of China (English)

    赵云静

    2012-01-01

    Genetic factors are an important cause of functional articulation disorder in children. This article reviews some genes and chromosome regions associated with a genetic susceptibility to functional articulation disorders. The forkhead box P2 (FOXP2) gene on chromosome 7 is introduced in details including its structure, expression and (unction. The relationship between the F0XP2 gene and developmental apraxia of speech is discussed. As a transcription factor, FOXP2 gene regulates the expression of many genes. CNTNAP2 as an important target gene of F0XP1 is a key gene influencing language development. Functional articulation disorder may be developed to dyslexia, therefore some candidate regions and genes related to dyslexia, such as3p12-13, 15q11-21, 6p22 and 1 p34-36, are also introduced. ROBO1 gene in 3pl2.3, ZNF280D gene, TCF12 gene, EKN1 gene in 15q21, and KIAA0319 gene in 6p22 have been candidate genes for the study of functional articulation disorder.%遗传因素是造成功能性构音障碍的重要原因.本文综述了最近发现的与功能性构音障碍相关的一些基因和染色体区域.详细介绍了FOXP2基因的结构、表达和功能,以及FOXP2基因在发育性言语失用中的变异.作为重要的转录调控因子,FOXP2基因可以调控很多基因的表达.其中CNTNAP2基因是FOXP2基因的重要靶基因,是影响语言及言语发育的重要基因.功能性构音障碍可能发展为阅读障碍,阅读障碍的候选基因也成为研究功能性构音障碍的重要候选基因.一些与阅读障碍相关的染色体区域3p12-13、15q11-21、6p22及1P34-36被认为可能与功能性构音障碍相关.位于这部分染色体区域的一些基因如ROBO1基因、ZNF280D基因、TCF12基因、EKN1基因、KIAA0319基因等成为研究功能性构音障碍的候选基因.

  8. [A 74-year-old man with urinary incontinence, right leg weakness and multiple cranial nerve palsies].

    Science.gov (United States)

    Mochizuki, H; Satoh, S; Saikawa, M; Mori, H; Shirai, T; Kondo, T; Mizuno, Y

    1995-02-01

    We report a 74-year-old man with a lung cancer, who developed right leg weakness, neurogenic bladder, and multiple cranial nerve palsies. The patient was well until December of 1992, when he was 74-year-old, when he noted transient double vision; in February of 1993, he noted numb sensation and weakness in his right leg. Later in the same month, he developed overflow incontinence of urine and weakness in his right face. He also noted deafness in his left ear (he had a marked loss of hearing in his right ear since childhood because of otitis media). His weakness in his right leg had progressed, and he was admitted to our service on March 19, 1993. On admission, he was afebrile and BP was 130/50 mmHg. General physical examination was unremarkable. On neurologic examination, he was alert and oriented to all spheres; no dementia was noted nor were detected aphasia, apraxia, and agnosia. His optic fundi were unremarkable; ocular movement appeared normal, however, he complained of diplopia in far vision. Sensation of the face was intact. He had right facial palsy of peripheral type; he was unable to close his right eye, and Bell's phenomenon was observed on attempted eye closure. On the left side, he had facial spasm. He had marked bilateral deafness. He had no dysarthria or dysphagia. The remaining of the cranial nerves were intact. Motor wise, he was unable to stand or walk alone; weakness did not appear to account for his difficulty in gait; manual muscle testing revealed 4/5 weakness in his tibialis anterior muscle, 1/5 in the peroneus longus, 0/5 in his extensor hallucis longus and extensor digitorum longus, all on the right side. Brachioradial and quadriceps femoris reflexes were increased to 3/4; plantar response was equivocal on the right side, and flexor on the left. Sensory examination revealed loss of touch and pain sensation in the L5 and S1 distributions in his right leg: vibration and position sensations were also diminished in his right foot. He had

  9. Joubert Syndrome in Three Children in A Family: A Case Series

    Directory of Open Access Journals (Sweden)

    Javad AKHONDIAN

    2013-02-01

    Full Text Available AbstractHow to Cite This Article: Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, MOazen N, Mohammadpoor T, Karimi R. Joubert Syndrome in Three Children in a family: A Case Series. Iran J Child Neurol. 2013 Winter: 7(1; 39-42. Joubert  syndrome  (JS  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis,hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features.Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders.Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs’ disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI. References1. Ahmed J, Ali US. Joubert syndrome with nephronophthisis in neurofibromatosis type 1. Saudi J Kidney Dis Transpl 2011;22(4:788-91.2. Singh P, Goraya JS, Saggar K, Ahluwalia A. A report of Joubert syndrome in an infant, with literature review. J Pediatr Neurosci 2011;6(1:44-7.3. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010;5:20.4. Malaki M, Nemati M, Shoaran M. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi J Kidney Dis Transpl 201;23(2:325-9.5. Louie CM, Gleeson JG. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 2005; 15;14 Spec No. 2:R235-42.6. Gill H, Muthusamy B, Atan D, Williams C, Ellis M. Joubert syndrome presenting with motor delay and oculomotor apraxia. Case Rep Pediatr 2011;2011:262641.7. Duldulao NA, Lee S, Sun Z. Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development 2009;136(23:4033-42.8. Parisi MA. Clinical and

  10. Application of patch in the total hip arthroplasty to reconstruct soft tissue tension after hip fusion%补片在髋关节融合后全髋置换重建软组织张力中的应用

    Institute of Scientific and Technical Information of China (English)

    陈涛; 尚希福; 贺瑞; 胡飞; 葛畅

    2012-01-01

    BACKGROUND: More and more patients required total hip arthroplasty (THA) after hip fusion.However,due to apraxias of tissuewith long-term, patients need reconstruct soft tissue tension during replacement to prevent dislocation of the prosthesis afterreplacement.OBJECTIVE: To discussion the application of patch in the THA to reconstruct soft tissue tension after hip fusion.METHODS: From January 2007 to January 2011, 21 patients with hip fusion were treated with the THA. Unequal length of lowerextremities was corrected, muscle was unable to close after restoring the patient's femoral offset. Patch was used forreconstructing soft tissue tension during the operation.RESULTS AND CONCLUSION: At 1 year after operation, Harris was (83.8±6.4 score), flexion of hip activity was (79.5°±4.6°).Two patients still needed walking stick after the operation. Lumbago, side gonalgia and the opposite side hip pain before theoperation were obviously alleviated, and only two patients still had leg length discrepancy. Over 5 years after the operation, ninepatients were not found the loosed performance. The patch plays an important role in the soft tissue tension reconstruction and isvery important to hip function recovery and prosthesis stability.%背景:越来越多的髋关节融合后患者要求行全髋置换,但此类患者长期软组织失用,为防止置换后假体脱位,置换过程中往往需要进行软组织张力的重建.目的:探讨医用聚丙烯疝修补网在髋关节融合后全髋关节置换重建软组织张力中的应用.方法:2007-01/2011-01对21例髋关节融合患者进行了全髋关节置换,置换过程中纠正下肢的不等长,恢复患者股骨的偏心距后,肌肉无法缝合,采用补片重建软组织的张力.结果与结论:置换后1年Harris评分(83.8±6.4)分,屈髋活动度(79.5±4.6)°.置换后有2例行走时仍需要手杖,置换前伴有的下腰痛、同侧膝关节痛和对侧髋关节痛的症状均明显缓解,仅有2

  11. Research progress of acupuncture therapy on mild cognitive impairment after stroke%针刺治疗脑卒中后轻度认知障碍的研究进展

    Institute of Scientific and Technical Information of China (English)

    杨红玲; 郑健刚; 张杰; 刘涛

    2016-01-01

    Mild cognitive impairment after stroke is a neuropsychological disorder, which is common in cerebrovascular disease and sequel of cerebrovascular disease. Cognitive impairment is a brain dysfunction caused by ischemic or hemorrhagic cerebrovascular disease, which usually manifested memory impairment, aphasia, apraxia, agnosia, alexia, visual spatial barriers. All the symptoms cause great inconvenience to the patient's daily life, social adjustment and comprehensive rehabilitation. The acupuncture therapy has a significant effect on mild cognitive impairment after stroke. Respectively use “stroke, cerebral infarction, cerebral hemorrhage, mild cognitive impairment, acupuncture”as keywords on PubMed, Cochrane, Embase, CNKI, Wan Fang DATA and VIP database from 2004 to 2014, retrieve nearly 10-year Chinese and English collections of published clinical studies. The acupuncture therapy for mild cognitive impairment after stroke in recent years was summarized to guide the clinical application, to provide new thinking with mild cognitive impairment after stroke, and pointed out the existing problems and the prospects with the future research direction and depth of acupuncture treatment of the disease.%脑卒中后轻度认知功能障碍是一种神经心理障碍,常见于脑血管病及脑血管病后遗症,表现为记忆障碍、失语、失用、失认、失读、视空间障碍等,给患者的日常生活、社会适应和全面康复造成极大的不便。针刺疗法对罹患卒中后轻度认知障碍的患者有显著疗效。分别以“卒中,脑梗死,脑出血,轻度认知障碍,针刺”为关键词,对PubMed、Cochrane、Embase、中国知网(CNKI)、万方数据库和维普数据库2004—2014年近10年收录已发表的相关临床研究报道进行中英文检索,对近年来应用针刺治疗轻度认知障碍的方法及操作加以归纳、总结。旨在指导临床应用,为治疗卒中后轻度认知障碍提供新的

  12. Cantonese version of the Oxford Cognitive Screen (OCS: Validation for stroke survivors in Hong Kong

    Directory of Open Access Journals (Sweden)

    Pinky Hiu Ping Lam

    2014-04-01

    Full Text Available Background Stroke-induced cognitive impairments are critical predictors of poor functional outcomes. They adversely affect recovery and reduce independent performance of basic activities of daily living (ADL and instrumental ADL (Zinn et al., 2004. Choices of cognitive assessment tools specific to the Cantonese speaking stroke population in Hong Kong are limited. The Cantonese version of the Western Aphasia Battery (Cantonese-WAB was specifically developed for examining language impairments. The Cantonese version of MMSE (Cantonese-MMSE and Hong Kong Montreal Cognitive Assessment (HK-MoCA, designed to detect cognitive deficits associated with dementia, lacked important measures of writing, neglect, and praxis where impairments were commonly found in stroke. More critically, most tasks in these two screeners required relatively intact auditory comprehension and verbal responses from participants. Presence of aphasia can, therefore, lead to underestimation of cognitive abilities. Aims Extending Chan et al.’s (2013 development of a Cantonese version of the Birmingham Cognitive Screen (BCoS to be used in Hong Kong, our first aim was to validate the Oxford Cognitive Screen (OCS, built on similar principles to the BCoS test but is shorter (15 minutes and can be used in acute settings, for Cantonese-speaking stroke survivors. This tool, including assessment of aphasia, apraxia, attention, memory, and spatial neglect, was designed to be neglect- and aphasia-friendly by using multi-modal presentation, forced-choice testing procedures, and vertical layouts. The second aim was to determine which cognitive domain(s in HK-OCS would best predict functional outcomes. Procedures Seventy normal individuals were recruited to establish the normative data of HK-OCS. Norm was developed for three age groups (59 years. Direct percentile conversions for each sub-test scores were used and cut-off scores were set at the top 5th percentile. Forty six native Cantonese

  13. 胼胝体梗死:临床与影像学特征%Corpus callosum infarction: clinical and imaging features

    Institute of Scientific and Technical Information of China (English)

    盛蕾; 胡丹; 肖婧; 张兰坤; 胡君; 王立; 李传游; 丁彩霞; 江雪梅

    2013-01-01

    Objeetive To investigate the clinical and imaging features in patients with corpus callosum infarction.Methods The patients with corpus callosum infarction confirmed by MRI were collected retrospectively.Their clinical manifestations and imaging data were analyzed.Results The corpus callosum infarction accounted for 1.04% of all patients with cerebral infarction.Its major risk factors were hypertension,coronary heart disease,and diabetes.Its typical clinical manifestations included ideomotor apraxia (42.9%),frontal gait (28.6%) and alien hand syndrome (14.3%) accompanied with limb paralysis,disturbance of consciousness,cognitive impairment and other symptoms.MRI detected 8 corpus callosum lesions.Most were involved in the body of corpus callosum (62.5%),followed by splenium (25.0%) and genu (1/8,12.5%).The frontal lobe (57.1%),basal ganglia (42.9%) and occipital lobe (42.9%) were frequently involved.Diffusion tensor imaging revealed that the fiber connections of the body and genu of corpus callosum were broken in one case.Angiography showed that 6 patients had vascular stenosis or occlusion,and the most common was vertebral artery stenosis (66.7%),followed by anterior cerebral artery (50.0%),and common carotid arery,internal carotid artery and middle cerebral artery stenoses were rare (all 33.3%).Conclusions The incidence of corpus callosum infarction is low.Atherosclerosis is the pathogenic key.Its clinical manifestations are diverse,and they are associated with the sites of infarction.%目的 探讨胼胝体梗死患者的临床和影像学特征.方法 回顾性收集经颅脑MRI证实的胼胝体梗死患者,对其临床表现和影像学资料进行分析.结果 胼胝体梗死占所有脑梗死患者的1.04%(7/671),其主要危险因素是高血压、冠心病和糖尿病.典型表现包括观念运动性失用(42.9%)、额叶步态(28.6%)和异己手综合征(14.3%),可伴有肢体瘫痪、意识障碍和认知损害等

  14. Repetitive training for ameliorating upper limbs spasm of hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    Lin Zhu; Lin Liu; Weiqun Song

    2006-01-01

    BACKGROUND:The main aim of rehabilitation is to ameliorate motor function and use the damaged limbs in the activities of daily living.Several factors are needed in the self-recovery of the patients,and the most important one is to reduce spasm.Some mechanical repetitive movements can affect and change the excitability of motor neurons.OBJECTIVE:To observe the effect of repetitive training on ameliorating spasm of upper limbs of hemiplegic patients.DESIGN:A self-controlled observation before and after training.SETTING:Department of Rehabilitation,Xuanwu Hospital of Capital Medical University.PARTICI PANTS: Seven hemiplegic patients induced by brain injury were selected from the Department of Rehabilitation,Xuanwu Hospital,Capital Medical University from March to June in 2005.Inclusive criteria:①Agreed and able to participate in the 30-minute training of hand function; ②Without disturbance of understanding.The patients with aphasia or apraxia,manifestation of shoulder pain,and severe neurological or mental defects.For the 7 patients,the Rivermead motor assessment(RMA)scores ranged 0-10 points,the Rivermead mobility index(RMI)ranged 1-3,and modified Ashworth scale(MAS)was grade 2-4.Their horizontal extension of shoulder joint was 0°-30°,anteflextion was 0°-50°,internal rotation was 50°-90°,external rotation was 0°-10°:and the elbow joint could extend for 15°-135°.METHODS:The viva 2 serial MOTOmed exerciser(Reck Company,Germany)was used.There were three phases of A-B-A.①The phase A lasted for 1 week.The patient sat on a chair facting to the MOTOmed screen.and did the circumduction of upper limbs forwardly,30 minutes a day and 5 days a week.②The phase B lasted for 3 weeks.The training consisted of forward circumduction of upper limbs for 15 minutes.followed by backward ones for 15 minutes and 5-minute rest.③The training in the phase A was performed again for 2 weeks.The extensions of upper limbs were recorded at phase A,the extension and flexion of

  15. Characteristics of basal ganglia aphasia after stroke%脑卒中后基底节性失语症的特征

    Institute of Scientific and Technical Information of China (English)

    孔亚婷; 潘希峰; 张其梅

    2006-01-01

    目的:脑卒中后基底节性失语症为临床常见疾病,但是否皮由质下结构导致了这些失语仍存在争论.基底节性失语症有特定的神经语言学特征,选择针对性语言康复治疗是有效的.资料来源:应用计算机检索中国期刊全文数据库1988-01/2005-12与脑卒中、皮质下及基底节性失语及语言康复相关的文献,检索词为"脑卒中、基底节性失语、语言康复",限定语言种类为中文,同时检索Medline 1982-01/2005-12的关于失语症的文献,检索词包括basalganglia,Subcortical aphasia,apraxia of speech等,并限定文章语言种类为English.并手工查阅与之内容相关的书籍若干.资料选择:对资料进行初审,选择与脑卒中后基底节性失语症的病理机制,神经语言学特征,失语症诊断方法,语言康复方法相关的文章,然后筛除与以上要求无明显联系的文章.纳入标准:详细阐述基底节失语症的临床特征、神经语言学发病机制、康复治疗方法相关文献.排除标准:重复性研究.资料提炼:共收集到95篇关于基底节失语症的文献,涉及基底节失语症临床特征文献31篇,其中神经语言学发病机制篇45篇,失语症评估及分类5篇,康复治疗方法14篇.排除65篇选择符合标准的30篇用于综述.资料综合:对脑卒中后基底节性失语的定义,研究现状进行简明介绍,在此基础上详述基底节性失语复杂的神经语言学特征,从临床失语症状组合出发,进行失语症评估,探讨失语症状与病灶部位的关系,了解脑卒中后基底节性失语症患者的病态语言行为发生机制,为验证语言在脑内加工过程的神经机制提供重要资料;另一方面阐述脑卒中后基底节性失语症患者语言康复治疗方法.结论:脑卒中后基底节性失语为临床常见疾病,有其特定的神经语言学特征,基底节结构参与语言形成过程,其机制有待进一步证实.选择针对性语言康复

  16. 35例急性胼胝体梗死患者的临床与影像学特征%Clinical and imaging features of 35 cases with corpus callosal infarction

    Institute of Scientific and Technical Information of China (English)

    刘艳梅

    2015-01-01

    or imaging) . Of 21 cases whose symptoms were caused mainly by corpus callosal infarction, 19 cases appeared limb weakness, 13 cases developed language disorder, 10 cases had disturbance of in-telligence, 4 cases had sensory disability, 3 cases had apraxia, 3 cases had dizziness and walking instability, 2 cases had urine disor-der, 1 case had hemianopsia and 1 case had conscious disturbance. The positive rate was 8. 5% (3/35) by CT scan and 100% (33/33) by MRI. The locations of corpus callosal infarction:22 cases at body area, 12 cases at genu, 12 cases at splenium and 2 cases at rostrum. There were 34 patients having other acute infarction lesions besides corpus callosum area, only 1 patient had pure corpus cal-losal infarction. Etiological diagnosis according to CISS ( Chinese ischemic stroke subclassification):23 cases diagnosed with intracra-nial and extracranial arteriosclerotic cerebral infarction, 3 cases with cardiogenic cerebral embolism, 1 case with perforating artery dis-ease, 8 cases with undetermined etiology. Conclusions:Corpus callosal infarction is happened mainly in middle-aged and aged people with lower incidence rate. The location of corpus callosal infarction is mostly at body area and the patients always have other acute in-farction lesions simultaneously. MRI is superior to CT scan in the diagnosis of corpus callosal infarction. Typical disconnection syn-drome is rarely seen in the clinic. Corpus callosal infarction is mainly caused by intracranial and extracranial arteriosclerosis, which has been quite extensive and serious at the time.

  17. Clinical Diagnosis of the Diseases with Atypical Parkinsonian Disorders%非典型帕金森病相关疾病的临床诊断思路

    Institute of Scientific and Technical Information of China (English)

    胡智伟; 王浩; 邹小东; 王百辰; 呙登俊

    2013-01-01

    and levodopa (L-dopa) tests.The final clinical diagnosis was made according to the diagnostic criterias of APD related diseases.Results For clinical manifestations,among the 48 patients,there were 42 cases with hypermytoma,40 cases with tremor,39 cases with bradykinesia,32 cases with abnormal postural reflex,29 cases with abnormal gait,13 cases with orthostatic hypotension,12 cases with tendon hyperreflexia,11 cases with cognitive impairment,10 cases with vertical gaze palsy,10 cases with bulbar palsy,8 cases with ataxia,8 cases with positive pathologic reflexes,7 cases with K-F corneal ring,5 cases with visual hallucination and 3 cases with unilateral limb ignorance duo to apraxia.Laboratory tests showed abnormal liver function in 9 cases,thrombocytopenia in 8 cases,reduced serum ceruloplasmin levels in 7 cases and abnormal coagulation monitoring in 5 cases.The CT scan revealed low density in basal ganglia in 19 cases,ventricular dilatation in 17 cases and cerebral atrophy in 14 cases.The MR imaging showed abnormal signals in the basal ganglia in 30 cases,ventricle expand in 20 cases,diffusive cerebral atrophy in 18 cases,atrophy in pons and cerebellum in 15 cases,hippocampal atrophy in 7 cases,high intensity in pallidum on T2 in 4 cases,“putamen fissure sign” in 8 cases,“cross sign” in pons in 7 cases and “hummingbird sign”in midbrain in 6 cases.Fourty-six cases showed poor response to L-dopa treatment.Montreal Cognitive Assessment Scale (MoCA) total scores < 26 in 23 cases.There were 18 cases diagnosed clinically as multiple system atrophy(MSA),10 cases diagnosed as progressive supranuclear palsy (PSP),7 cases diagnosed as Wilson disease(WD),6 cases diagnosed as dementia with Lewy bodies (DLB),5 cases diagnosed as Alzheimer' s disease (AD) with Parkinsonism syndrome (PS) and 2 cases diagnosed as corticobasal degeneration (CBD).Conclusion Although APD related diseases have some similarity in clinical manifestations,but their clinical characteristics

  18. 脑卒中患者康复期间跌倒的特点及危险因素分析%Characteristics and risk factors for falls in stroke patients during inpatient rehabilitation

    Institute of Scientific and Technical Information of China (English)

    邓晓清; 方芳; 蒋红焱; 张立湘; 向平; 王晓磊; 黄丽华; 曾宪国

    2014-01-01

    Objective To evaluate the characteristics and risk factors for falls in stroke patients during inpatient rehabilitation .Methods Ninety-five patients with acute stroke during inpatient rehabilitation were included prospectively .The characteristics of falling were analyzed .The risk factors for falls were analyzed by multiple logistic regression analysis .Results Of 95 patients included in this study , fallers were observed in 21 patients(22.1%).14 patients(66.7%)falled firstly within 1 month,5 patients (23.8%)occured from 1 to 2 months and 2 patients(9.5%)occured from 2 month to discharge after their admission.14 patients(66.7%)falled during daytime and 7 patients(33.3%)falled during night.7 patients (33.3%)falled when transfering and 3 patients (14.3%) falled when sitting in bed.7 patients (33.3%) falled when walking or exercising in corridor .2 patients ( 9.5%) falled when going to toilet and 2 patients (9.5%)falled when bathing.5 fallers(23.8%)experienced recurrent falls.2 fallers(9.5%)experienced no injuries,16 fallers ( 76.2%) experienced grazes , 3 fallers ( 14.3%) experienced fracture .Fallers showed significantly lower Barthel index ( BI ) than non-fallers upon admission and discharge .Univariate analysis showed that age,history of previous falls,side of hemiparesis,consciousness disturbance,delirium,visual impairment,sensory disturbance,apraxia,unilateral spatial neglect,urinary incontinence,fecal incontinence, use of psychotropic medicines ,walk independently ,low Hasegawa demetia scale ( HDS-R) and hospitalization were associated with more frequent fall .Multiple logistic regression analysis showed that history of previous falls(OR=1.85,95%CI:1.26-2.81),side of hemiparesis(right OR=2.37,95%CI:1.62-4.59;left OR=2.47 , 95% CI:1.46-4.78 ) , visual impairment ( OR =2.31 , 95% CI:1.31-5.02 ) , sensory disturbance (OR=2.38,95% CI:1.42-4.68 ), unilateral spatial neglect ( OR =3.44,95% CI:2.82-5.38 ), use of psychotropic medicines ( OR=1.36 ,95% CI:1

  19. 自体股骨头重建髋臼治疗髋关节发育不良的中期疗效%Midterm outcomes of autologous femoral head grafting in total hip arthroplasty for developmental dysplasia of the hip

    Institute of Scientific and Technical Information of China (English)

    翟吉良; 翁习生; 林进; 金今; 钱文伟; 边焱焱; 彭慧明

    2015-01-01

    apraxia of the surgical hip.Conclusion Autologous femoral head grafting for the treatment of developmental dysplasia of the hip has a satisfactory clinical and radiographic outcomes at an average of five-year follow-up.Bone graft absorption is a natural process of structural bone grafting.Joint dislocation is the most common complication of THA in developmental dysplasia of the hip.%目的 总结采用自体股骨头结构性植骨治疗髋关节发育不良继发关节炎的中期疗效及并发症.方法 回顾性分析2001年10月至2011年12月采用自体股骨头重建髋臼方法治疗36例髋关节发育不良患者资料,其中34例获得30个月以上的临床及影像学完整随访资料,男6例,女28例;年龄28~68岁,平均51岁;均为单侧手术,左侧16例,右侧18例.Crowe分型,Ⅱ型12例,Ⅲ型16例,Ⅳ型6例;所用假体除l例为混合型外,其余均为非骨水泥型.临床随访包括术前、术后Harris评分及各种并发症;影像学评估包括双侧髋关节正位(或骨盆正位)、患侧髋关节侧位X线片,以判断人工假体位置、植骨愈合情况.结果 34例患者均获得随访,随访时间31~153个月,平均64.1个月.术前Harris评分为23~56分,平均35.4分;末次随访时为82~95分,平均89分,其中优28例,良6例,优良率为100%.术后2~8个月,10例出现植骨块吸收.术后4例患者发生髋关节假体脱位,遂均采用闭合复位,其中1例于复位后2个月再次发生脱位,再次采用闭合复位后未再发生脱位;另3例均未再发生脱位.1例患者于术后3个月摔倒后出现假体周围骨折,行骨折切开复位钢板内固定术,1年随访时骨折已愈合,至末次随访时假体及内固定位置良好、骨折愈合良好,患髋功能良好.术后1年,1例患者因高血压颅内出血行保守治疗后关节置换侧偏瘫,关节失用.结论 自体股骨头重建髋臼治疗髋关节发育不良整体疗效满意,骨吸收是结构性植骨的一个自然过程,关

  20. Study on the diagnosis of disorders with Parkinson-like symptoms%具有帕金森病样症状相关疾病的诊断探讨

    Institute of Scientific and Technical Information of China (English)

    胡智伟; 邹小冬

    2012-01-01

    Objective To investigate the diagnosis of the disorders with Parkinson-like symptoms (PLS). Methods The clinical data of 78 patients with PLS admitted in our hospital during 2008-01 to 2010-12 were analyzed retrospectively, including medical history, physical examinations, clinical manifestations, blood biochemistry, parathyroxin, ceruloplasmin, levodopa (L-dopa ) test, brain CT scan and MR imaging. The final clinical diagnosis was made according to the diagnostic criteria of PLS related disorders. Results For clinical manifestations, among the 78 patients, there were 74 cases with hypermyotonia, 67 cases with tremor, 65 cases with bradykinesia, 56 cases with abnormal postural reflex, 52 cases with abnormal gait, 5 cases with orthostatic hypotension, 4 cases with vertical gaze palsy, 2 cases with positive K-F corneal ring, 2 cases with visual hallucination, and 1 case with unilateral limb ignorance due to apraxia. The blood biochemistry tests showed abnormal liver function in 5 cases, reduced serum ceruloplasmin level in 2 cases and reduced serum parathyroxin level in 1 case. The CT scan revealed low density in basal ganglia in 59 cases, cerebral atrophy in 35 cases, encephalomalacia in 10 cases, and calcifications existing in the basal ganglia and cerebellar hemisphere in 2 cases. The MR imaging showed abnormal signals in the basal ganglia, the brain stem and the brain whiterfnatter in 65 cases, atrophy in pons and cerebellum in 5 cases, "putamen fissure sign" in 4 cases, "cross sign" in pons in 3 cases, cerebral "hummingbirds sign" in 1 case, high intensity in pallidum on T2 in 2 cases. 31 cases showed poor response to L-dopa treatment. There were 36 cases diagnosed clinically as PD, 28 cases diagnosed as parkinsonian syndrome (PS), 4 cases diagnosed as multiple system atrophy (MSA), 4 cases diagnosed as progressive supranuclear palsy (PSP), 2 cases diagnosed as Lewy body (DLB), 2 cases diagnosed as Wilson disease (WD), 1 case diagnosed as basal ganglia