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Sample records for apraxias

  1. 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

  2. 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...

  3. Apraxias in neurodegenerative dementias

    Directory of Open Access Journals (Sweden)

    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.

  4. 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.

  5. Apraxia-Kids

    Science.gov (United States)

    ... Applications 1:24 pm CASANA Seeks Candidates for Finance Committee Membership 3:24 pm Apraxia Awareness Day ... How To Help Donations Fundraising Professional Friends Directory Corporate Sponsorship Shop to Help Events Calendar Educational Events ...

  6. 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.

  7. 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 ...

  8. 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...

  9. 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...

  10. Loss of agency in apraxia

    OpenAIRE

    Mariella Pazzaglia

    2014-01-01

    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 th...

  11. 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 ...

  12. Loss of agency in apraxia

    Directory of Open Access Journals (Sweden)

    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.

  13. Apraxia of lid opening.

    Science.gov (United States)

    Ugarte, Marta; Teimory, Masoud

    2007-07-01

    We describe eyelid movement abnormalities in an 80-year-old man with apraxia of lid opening (ALO), resulting from involuntary levator palpebrae inhibition (ILPI) and pretarsal orbicularis oculi (OO) contraction. He was unable to open his lids at will following closure. Attempted eye opening resulted in forceful contraction of the frontalis muscle, backward thrusting of the head and lengthened lid closure. The inability to reopen the lids was not evident during spontaneous reflex blinking and he had no difficulty in keeping the lids open once they had been manually lifted up. There were no episodes of involuntary drooping of the eyelids or spasmodic contraction of the OO causing involuntary eyelid closure. Pursuit eye movements were not restricted, the vestibulo-ocular reflex was preserved and both horizontal and vertical saccades were normal. Despite the clinically visible persistence of pretarsal OO activity, treatment with botulinum toxin injections in the pretarsal and preseptal portions of the muscle did not reduce his difficulty in initiating lid elevation but he found some benefit using lid crutches. ALO is thought to be due to an abnormality in the supranuclear control of eyelid movement. ILPI can present either isolated or combined with blepharospasm. The excitatory levator palpebrae response necessary to lift the lids up is likely to be in very close connection with the OO antagonistic inhibitory response. Alterations in one or another pre-motor structure may result in inability to raise the lids due to inhibition of the levator palpebrae as well as persistence of the pretarsal OO. PMID:17576707

  14. A Representational Account for Apraxia of Speech

    OpenAIRE

    Mayer, Jörg

    1995-01-01

    The present study proposes a new interpretation of the underlying distortion in apraxia of speech. Based on the experimental investigation of coarticulation it is argued that apraxia of speech has to be seen as a defective implementation of phonological representations at the phonology-phonetics interface. The characteristic production deficits of apraxic patients are explained in terms of overspecification of phonetic representations.

  15. 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

  16. Familial Congenital Ocular Motor Apraxia

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    Huei-Chun Lai

    2002-06-01

    Full Text Available Congenital ocular motor apraxia (COMA is a unique ocular motor disorder which ischaracterized by a deficit in initiation of voluntary horizontal eye movement with reservedreflex eye movement. Although a portion of cases with COMA were found to be associatedwith other abnormalities, COMA in most patients is an isolated disorder. The most characteristicappearance of these patients is compensatory head thrusts which usually become lessevident with increasing age.Since Cogan first described COMA in 1952, many cases have been reported. Themajority of these occurred sporadically with only a few exceptions. We report on 4 patientswith COMA. Two of them were siblings, and the other 2 patients were father and daughter.The ocular motility status is described in detail.

  17. Apraxia

    Science.gov (United States)

    ... is important for people with severe speech and language disorders. Other tips: Maintain a relaxed, calm environment. Take ... chap 12B. Kortte JH, Palmer JB. Speech and language disorders. In: Frontera, WR, Silver JK, Rizzo TD Jr, ...

  18. [Left unilateral melokinetic apraxia and left dynamic apraxia following partial callosal infarction].

    Science.gov (United States)

    Verstichel, P; Meyrignac, C

    2000-03-01

    A 69 year-old right-handed man suffered from an infarct in the left anterior cerebral territory's artery, involving the anterior and middle parts of the corpus callosum, and the cingulum. He had a right crural hemiparesis with a grasp reflex of the right hand, and ipsilaterally a melokinetic and a dynamic apraxia. Agility of the left fingers was lost: fast and nimble movements of theses fingers, and repetitive gestures of the left hand were defective. Execution of motor sequences with the left hand was disrupted by a lack of litheness in gesture series. By analogy with unilateral left ideomotor apraxia, we suggest melokinetic and dynamic apraxia could be symptomatic of an interhemispheric disconnection. Premotor cortex could have a dominance for both digital movements and programmation of gestual sequences. As a general rule, the left cortex could be preferentially activated by the nature of some tasks, particularly the execution of complex gestual series, which implie an internal speech. In theses conditions, an interhemispheric disconnection could lead some difficulties to make theses gestures with the left hand. PMID:10740099

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

    Science.gov (United States)

    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…

  20. Gestural Imitation and Limb Apraxia in Corticobasal Degeneration

    Science.gov (United States)

    Salter, Jennifer E.; Roy, Eric A.; Black, Sandra E.; Joshi, Anish; Almeida, Quincy

    2004-01-01

    Limb apraxia is a common symptom of corticobasal degeneration (CBD). While previous research has shown that individuals with CBD have difficulty imitating transitive (tool-use actions) and intransitive non-representational gestures (nonsense actions), intransitive representational gestures (actions without a tool) have not been examined. In the…

  1. Script Training Treatment for Adults with Apraxia of Speech

    Science.gov (United States)

    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…

  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. 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.

  4. A case of crossed aphasia with apraxia of speech.

    Science.gov (United States)

    Patidar, Yogesh; Gupta, Meena; Khwaja, Geeta A; Chowdhury, Debashish; Batra, Amit; Dasgupta, Abhijit

    2013-07-01

    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. PMID:24101837

  5. Right putamen hemorrhage manifesting as apraxia of eyelid opening

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    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

  6. Brain abnormalities underlying limb apraxia in corticobasal degeneration: an fMRI study

    OpenAIRE

    Beauchet, Olivier; Giraux, Pascal; Schneider, Fabien; Peyron, Roland; Barral, Fabrice; Laurent, Bernard

    2001-01-01

    Corticobasal degeneration is a neurodegenerative disease characterized, by cortical dysfunction and extrapyramidal signs. The most consistent symptom is a unilateral limb apraxia, which consists of an isolated disorder of gestural production involving primarily the upper limb. The objective of this study is to investigate the functional abnormalities that may underlie motor dysfunction, and those which might correlate to the severity of limb apraxia.

  7. 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; Nakayama, H; Raaschou, H O; Olsen, T S

    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....

  8. 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

  9. 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

  10. 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

  11. Evolutionary autonomous agents and the nature of apraxia

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    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

  12. Right putamen hemorrhage manifesting as apraxia of eyelid opening

    OpenAIRE

    Lin YH; Liou LM; Lai CL; Chang YP

    2013-01-01

    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 rep...

  13. 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...

  14. 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...

  15. 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

  16. Optic aphasia, optic apraxia, and loss of dreaming.

    Science.gov (United States)

    Peña-Casanova, J; Roig-Rovira, T; Bermudez, A; Tolosa-Sarro, E

    1985-09-01

    A 47-year-old man with a left temporo-occipital infarct in the area of the posterior cerebral artery is presented. The neuropsychological examination did not reveal aphasia or gross mental deficits. The patient presented with alexia without agraphia, color agnosia, but few visual perceptual deficits. The main impairment was in confrontation naming; he was incapable of naming objects and pictures, not from lack of recognition (excluding visual agnosia) but from lack of access to the appropriate word (optic aphasia). The patient also exhibited a deficit in the evocation of gesture from the visual presentation of an object (optic apraxia) and a difficulty in "conjuring up" visual images of objects (impaired visual imagery) and loss of dreams. The fundamental deficit of this patient is tentatively explained in terms of visuoverbal and visuogestural disconnection and a deficit of mental imagery. PMID:2413956

  17. Constructional apraxia in patients with closed head injury

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    Pavlović Dragan M.

    2005-01-01

    Full Text Available Introduction. Constructional apraxia is a disorder characterized by an inability to join the elements into a unity. It has not been studied much in patients with closed head injury (CHI. Methods. Forty-one patients with CHI were examined, of which 11 (26.83% were with the right-sided, 12 (29.27% with the left-sided, and 18 (43.90% with bilateral lesion using the Wechsler Individual Intelligence Test (VITI - Serbian version, Rey Complex Figure (RCF test, Trail Making Test - TMT A and B, and the Wisconsin Card Sorting Test (WCST. Results. Intelligence quotient (IQ was significantly higher in the patients with the right-sided (95.27 and bilateral cerebral lesions (87.56 than in the left-sided (84.42. RCF scores did not show any significant difference regarding the side of the lesion, but was numerically the lowest scores were in patients with bilateral brain damage. Patients with left-sided lesions had the score of 30.63, right-sided of 28.68, and bilateral of 27.39. TMT B showed a significantly lower result in patients with the left-sided (196.50 seconds and bilateral lesions (192.07 seconds compared to the right-sided (140.14 seconds. WCST scores were not significantly different regarding the side of the lesion, but the absolute value of the categories was less than expected. Conclusion. Constructional apraxia was more frequently present in the patients with CHI than it was previously considered. The use of sensitive tests can show the presence of the disorder mainly in bilateral, but also in unilateral lesions.

  18. Apraxia da fala adquirida e desenvolvimental: semelhanças e diferenças Acquired and developmental apraxia of speech: similarities and differences

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    Thaís Nobre Uchôa Souza

    2008-06-01

    Full Text Available A apraxia da fala é um distúrbio de comunicação em que ocorre uma incapacidade na programação dos movimentos musculares, necessários para a produção e seqüência de fonemas. O objetivo deste estudo foi realizar um levantamento bibliográfico sobre a apraxia da fala adquirida e desenvolvimental, buscando semelhanças e diferenças em suas características gerais, métodos de avaliação e intervenção fonoaudiológica. Os resultados demonstraram: um número grande de trabalhos sobre as características gerais da apraxia; as atuais pesquisas genéticas com o intuito de descobrir o foco do problema, dentre as quais se destacam os estudos sobre o FOXP2, os estudos de translocação e os estudos neurodesenvolvimentais; a variabilidade dos sintomas na fala, tanto no adulto como na criança; a utilização de protocolos de análise clínica e da análise acústica no diagnóstico. As informações coletadas demonstram que, apesar de as crianças com apraxia da fala desenvolvimental apresentarem comprometimentos práxicos semelhantes aos apresentados em adultos com apraxia da fala adquirida, ambas possuem características próprias, que vão desde sua etiologia até o prognóstico, o que as torna entidades clínicas distintas. Assim, sugere-se a necessidade de maiores investimentos em pesquisas nacionais com objetivos diagnósticos e reabilitadores, considerando parâmetros que possam fornecer subsídios para o diagnóstico diferencial e procedimentos terapêuticos direcionados aos distúrbios motores apráxicos da fala.Apraxia of speech is a communication disorder in which the person is unable to make the muscle movements needed to produce phonemes and phoneme sequences. The purpose of this paper was to carry out a bibliographical survey on acquired and developmental apraxia of speech, searching for their similarities and differences regarding overall characteristics, assessment methods and speech-language pathology intervention. The results

  19. 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…

  20. 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

  1. 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

  2. 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…

  3. 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…

  4. 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…

  5. 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…

  6. 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…

  7. 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. PMID:25352157

  8. 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…

  9. 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.…

  10. 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

  11. Limb apraxia without aphasia from a left sided lesion in a right handed patient.

    OpenAIRE

    Selnes, O A; Pestronk, A.; Hart, J.; Gordon, B.

    1991-01-01

    A right handed man had a massive left middle cerebral artery stroke. CT and MRI revealed extensive destruction of both anterior and posterior areas typically associated with language. There was, however, no aphasia, but instead a marked limb apraxia, dyscalculia, dense right visual neglect, and anosognosia. These uncommon dissociations and associations support the hypothesis that cerebral control of motor function of the limbs is not fundamentally related to the motor control involved in spee...

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

    OpenAIRE

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

    2011-01-01

    In a sample of 46 children aged 4 to 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 preschool children with Speech Delay, and 15 participants aged 5 to 49 years with CAS in neurogenetic disorders. Speech Delay and Speech Errors, r...

  13. Cortico-cortical networks in patients with ideomotor apraxia as revealed by EEG coherence analysis

    OpenAIRE

    Wheaton, Lewis A.; Bohlhalter, Stephan; Nolte, Guido; Shibasaki, Hiroshi; Hattori, Noriaki; Fridman, Esteban; Vorbach, Sherry; Grafman, Jordan; Hallett, Mark

    2008-01-01

    We sought to determine whether coherent networks which circumvent lesioned cortex are seen in patients with ideomotor apraxia (IMA) while performing tool use pantomimes. Five normal subjects and five patients with IMA (three patients with corticobasal degeneration and two with left hemisphere stroke) underwent 64-channel EEG recording while performing three tool-use pantomimes with their left hand in a self-paced manner. Beta band (20–22 Hz) coherence indicates that normal subjects have a dom...

  14. 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...

  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. 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...

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

    OpenAIRE

    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 speech production process. For this, a model of speech production was used and the involvement of successive levels of the speech production process in the underlying deficit of DAS was tested in separ...

  19. Functional rehabilitation of upper limb apraxia in poststroke patients: study protocol for a randomized controlled trial

    OpenAIRE

    Pérez-Mármol, Jose Manuel; García-Ríos, Mª Carmen; Barrero-Hernandez, Francisco J.; Molina-Torres, Guadalupe; Brown, Ted; Aguilar-Ferrándiz, María Encarnación

    2015-01-01

    Background Upper limb apraxia is a common disorder associated with stroke that can reduce patients’ independence levels in activities of daily living and increase levels of disability. Traditional rehabilitation programs designed to promote the recovery of upper limb function have mainly focused on restorative or compensatory approaches. However, no previous studies have been completed that evaluate a combined intervention method approach, where patients concurrently receive cognitive trainin...

  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. Características clínicas da apraxia de fala na infância: revisão de literatura = Clinical characteristics of childhood apraxia of speech: literature review

    Directory of Open Access Journals (Sweden)

    Payão, Luzia Miscow da Cruz

    2012-01-01

    Full Text Available A falta de precisão e consistência dos movimentos de fala na ausência de déficits neuromusculares são características de quadros de apraxia. A alteração ocorre no planejamento e/ou programação de parâmetros espaço-temporais das sequências dos movimentos, resultando em erros na produção dos sons da fala e alterações prosódicas. Essa revisão de literatura pretende abordar a produção normal do gesto articulatório no contexto da fala encadeada, semelhanças e diferenças entre a apraxia de fala na infância e a apraxia adquirida no adulto, além de características encontradas na literatura que auxiliam no diagnóstico da apraxia infantil. Os quadros de apraxia em adultos, ao contrário dos infantis, correspondem a uma perda de função neurológica. Em crianças, essa desordem prejudica o desenvolvimento de funções que estão em processo de aquisição.

  3. 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

  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. 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.

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

    International Nuclear Information System (INIS)

    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. 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…

  8. 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…

  9. 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…

  10. 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.

  11. 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

  12. [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

  13. 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.

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

    International Nuclear Information System (INIS)

    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. (author)

  15. 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.

  16. Risk factors for the syndrome of ventricular enlargement with gait apraxia (idiopathic normal pressure hydrocephalus): a case-control study.

    OpenAIRE

    Casmiro, M; D'Alessandro, R.(INFN Sezione di Firenze, Firenze, Italy); Cacciatore, F M; Daidone, R; Calbucci, F; Lugaresi, E

    1989-01-01

    A case-control study was performed to verify the association between the risk factors for cerebrovascular disease and the syndrome of ventricular enlargement with gait apraxia (VEGAS). This syndrome was defined on the basis of clinical and CT criteria alone; however, it may be representative of patients with idiopathic normal pressure hydrocephalus in whom gait disturbance is the initial symptom. Seventeen patients were matched for age and sex with one hospitalised and two general population ...

  17. 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 ...

  18. 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

  19. 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

  20. 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

  1. Prelinguistic communication development in children with childhood apraxia of speech: a retrospective analysis.

    Science.gov (United States)

    Highman, Chantelle; Leitão, Suze; Hennessey, Neville; Piek, Jan

    2012-02-01

    In a retrospective study of prelinguistic communication development, clinically referred preschool children (n = 9) aged 3-4 years, who as infants had failed a community-based screening program, were evaluated for features of childhood apraxia of speech (CAS). Four children showed no features and either delayed or normal language, five had from three-to-seven CAS features and all exhibited delayed language. These children were matched by age with 21 children with typically-developing (TD) speech and language skills. Case-control comparisons of retrospective data from 9 months of age for two participants with more severe features of CAS at preschool age showed a dissociated pattern with low expressive quotients on the Receptive-Expressive Emergent Language Assessment-Second Edition (REEL-2) and records of infrequent babbling, but normal receptive quotients. However, other profiles were observed. Two children with milder CAS features showed poor receptive and expressive development similar to other clinically referred children with no CAS features, and one child with severe CAS features showed poor receptive but normal expressive developmental milestones at 9 months and records of frequent babbling. Results suggest some but not all children with features of suspected CAS have a selective deficit originating within speech motor development. PMID:22257070

  2. 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

  3. 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.

  4. 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.

  5. Apraxia e produção da fala: efeitos do fortalecimento de relações verbais

    OpenAIRE

    Ana Claudia Moreira Almeida-Verdu; Célia Maria Giacheti; Fernando Del Mando Lucchesi; Geisa Rodrigues de Freitas; Jeniffer de Cássia RilloDutka; Jéssica Aline Rovaris; Priscila Foger Marques

    2015-01-01

    Este estudo propõe relatar o efeito do fortalecimento de relações de leitura e da transferência de controle de estímulos sobre a produção da fala de uma criança com apraxia de fala. Utilizou-se o programa Aprendendo a Ler e a Escrever em Pequenos Passos(r). As atividades foram realizadas em 22 sessões, com duas sessões semanais, de 30 minutos cada. Como resultados houve aumento na porcentagem de acertos na produção da fala do participante frente a diferentes estímulos. Os resultados corrobora...

  6. 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

  7. 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

  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. 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

  11. 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

  12. 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

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

    OpenAIRE

    Murray Elizabeth; McCabe Patricia; Ballard Kirrie J

    2012-01-01

    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 gu...

  14. 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...

  15. A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

    Science.gov (United States)

    Fedorenko, Evelina; Morgan, Angela; Murray, Elizabeth; Cardinaux, Annie; Mei, Cristina; Tager-Flusberg, Helen; Fisher, Simon E; Kanwisher, Nancy

    2016-02-01

    Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders. PMID:26173965

  16. 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 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

  17. 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

  18. 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.

  19. 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 ...

  20. 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) ...

  1. 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

  2. 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.

  3. 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

  4. 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.

  5. 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

  6. 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

  7. 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…

  8. 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.

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

    International Nuclear Information System (INIS)

    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.)

  10. Mirror Writing Across Cultures: motor hypothesis vs. directional apraxia in dextrad and sinistrad writers

    OpenAIRE

    Kennedy, Kate

    2013-01-01

    ‘Mirror writing’ – the production of backwards facing script - occurs frequently in semi-literate children with the dominant right hand, and involuntarily with the non-dominant left hand amongst brain damaged adults, and both involuntarily and intentionally under experimental conditions. Its underlying theoretical mechanisms are disputed; whilst the classic motor hypothesis posits mirror writing to be a consequence of the non-dominant hand reversing dominant hand canonical writing motor seque...

  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. 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

  13. 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…

  14. 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…

  15. 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

  16. 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

  17. Cortico-basal ganglionic degeneration a case report

    OpenAIRE

    J. Teotônio de Oliveira; Francisco E. Cota Cardoso

    1992-01-01

    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 CBG...

  18. Plasticity, Permanence, and Patient Performance: Study Design and Data Analysis in the Cognitive Rehabilitation of Acquired Communication Impairments

    OpenAIRE

    Cowell, Patricia E.; Whiteside, Sandra P.; Windsor, Fay; Varley, Rosemary A.

    2010-01-01

    Communication impairments such as aphasia and apraxia can follow brain injury and result in limitation of an individual's participation in social interactions, and capacity to convey needs and desires. Our research group developed a computerized treatment program which is based on neuroscientific principles of speech production (Whiteside and Varley, 1998; Varley and Whiteside, 2001; Varley, 2010) and has been shown to improve communication in people with apraxia and aphasia (Dyson et al., 20...

  19. Plasticity, permanence and patient performance: study design and data analysis in the cognitive rehabilitation of acquired communication impairments

    OpenAIRE

    Fay Windsor; Varley, Rosemary A.

    2010-01-01

    Communication impairments such as aphasia and apraxia can follow brain injury and result in limitation of an individual's participation in social interactions, and capacity to convey needs and desires. Our research group developed a computerised treatment programme which is based on neuroscientific principles of speech production (Varley and Whiteside, 2001; Varley, 2010; Whiteside and Varley, 1998) and has been shown to improve communication in people with apraxia and aphasia (Dyson et al., ...

  20. 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...

  1. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

    OpenAIRE

    Nanetti, Lorenzo; Cavalieri, Simona; Pensato, Viviana; Erbetta, Alessandra; Pareyson, Davide; Panzeri, Marta; Zorzi, Giovanna; Antozzi, Carlo; Moroni, Isabella; Gellera, Cinzia; Brusco, Alfredo; Mariotti, Caterina

    2013-01-01

    Objectives/background Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate each of these forms, the patients also share common clinical signs, such as the presence of cerebellar atrophy, sensorimotor axonal neuropathy, and elevated alpha-fetoprotein (AFP) serum level. Mat...

  2. 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

  3. Biparietal variant of Alzheimer's disease: a rare presentation of a common disease.

    Science.gov (United States)

    Marques, Inês B; Tábuas-Pereira, Miguel; Milheiro, Miguel; Santana, Isabel

    2015-01-01

    Alzheimer's disease (AD) is a clinically heterogeneous disease that may have atypical presentations with focal cortical syndromes and relatively preserved episodic memory. The posterior variant of AD has two subtypes: occipitotemporal, presenting with visuoperceptive impairment, and biparietal, presenting with visuospatial dysfunction and apraxia. We report a case of a 51-year-old woman with progressive limb apraxia and choreiform movements. Her neuropsychological evaluation was compatible with dementia, and revealed ideomotor and ideational limb apraxia, severe visuoconstructive ability impairment, dyscalculia and posterior aphasia. Workup excluded metabolic, infectious, inflammatory or neoplastic causes, and hereditary conditions as Huntington's disease and familial AD. Cerebrospinal fluid biomarkers revealed β-amyloid reduction and τ protein increase. Brain imaging showed marked biparietal atrophy and hypoperfusion, and widespread cortical β-amyloid deposition. Biparietal variant of AD was diagnosed and acetylcholinesterase inhibitor treatment induced clinical stabilisation. AD may present with atypical features and a high clinical suspicion is necessary for an early diagnosis. PMID:25564588

  4. 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.

  5. 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

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

    Science.gov (United States)

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

    2013-01-01

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

  7. 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...

  8. Posterior cortical dementia with alexia: neurobehavioural, MRI, and PET findings.

    OpenAIRE

    Freedman, L; Selchen, D H; Black, S E; Kaplan, R; Garnett, E. S.; Nahmias, C

    1991-01-01

    A progressive disorder of relatively focal but asymmetric biposterior dysfunction is described in a 54 year old right handed male. Initial clinical features included letter-by-letter alexia, visual anomia, acalculia, mild agraphia, constructional apraxia, and visuospatial compromise. Serial testing demonstrated relentless deterioration with additional development of transcortical sensory aphasia, Gerstmann's tetrad, and severe visuoperceptual impairment. Amnesia was not an early clinical feat...

  9. Regional cerebral blood flow in primary degenerative dementia

    International Nuclear Information System (INIS)

    Regional cerebral blood flow (rCBF) was examined, using SPECT by Xe-133 inhalation, in patients with primary degenerative dementia who were subgrouped according to predominant symptoms with respect to amnesia, apraxia, agnosia, aphasia, and personality changes. Also the effect of sex and age at dementia onset on the rCBF patterns was assessed. (author). 26 refs.; 1 fig.; 7 tabs

  10. Augmentative and Alternative Communication Applications for Persons with Severe Congenital Communication Disorders: An Introduction.

    Science.gov (United States)

    Mirenda, Pat; Mathy-Laikko, Pamela

    1989-01-01

    The paper presents an overview of issues in augmentative and alternative communication as well as basic information on etiology, prevalence, and associated communication characteristics for the following conditions: cerebral palsy, mental retardation, autism, developmental verbal apraxia, and specific language disorders. (DB)

  11. Severe Episodic Memory Impairment in a Patient With Clinical Features Compatible With Corticobasal Degeneration

    OpenAIRE

    Kim, Sung Kwan; Park, Kyung Won; Kang, Do-Young; Cha, Jae Kwan; Kim, Sang-Ho; Kim, Jae Woo

    2008-01-01

    Corticobasal degeneration (CBD) is a progressive neurodegenerative disorder characterized by asymmetric parkinsonism associated with apraxia, cortical sensory loss, and alien-limb phenomenon. Neuropsychological testing in patients with CBD typically shows deficits in executive functions, praxis, language, and visuospatial functioning, but not in memory. We report a CBD patient with severely impaired memory function but relatively mild motor symptoms. Detailed neuropsychological assessment sho...

  12. Corticobasal syndrome: Five new things

    OpenAIRE

    Chahine, Lama M.; Rebeiz, Tanya; Rebeiz, Jean J.; Grossman, Murray; Gross, Rachel G.

    2014-01-01

    Corticobasal syndrome (CBS) is characterized by asymmetric involuntary movements including rigidity, tremor, dystonia, and myoclonus, and often associated with apraxia, cortical sensory deficits, and alien limb phenomena. Additionally, there are various nonmotor (cognitive and language) deficits. CBS is associated with several distinct histopathologies, including corticobasal degeneration, other forms of tau-related frontotemporal lobar degeneration such as progressive supranuclear palsy, and...

  13. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

    OpenAIRE

    Kouri, Naomi; Murray, Melissa E.; Hassan, Anhar; Rademakers, Rosa; Uitti, Ryan J; Boeve, Bradley F.; Graff-Radford, Neill R.; Wszolek, Zbigniew K; Litvan, Irene; Josephs, Keith A.; Dickson, Dennis W.

    2011-01-01

    Patients with corticobasal degeneration can present with several different clinical syndromes, making ante-mortem diagnosis a challenge. Corticobasal syndrome is the clinical phenotype originally described for corticobasal degeneration, characterized by asymmetric rigidity and apraxia, cortical sensory deficits, dystonia and myoclonus. Some patients do not develop these features, but instead have clinical features consistent with the Richardson syndrome presentation of progressive supranuclea...

  14. 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…

  15. 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 is f...

  16. Central Timing Deficits in Subtypes of Primary Speech Disorders

    Science.gov (United States)

    Peter, Beate; Stoel-Gammon, Carol

    2008-01-01

    Childhood apraxia of speech (CAS) is a proposed speech disorder subtype that interferes with motor planning and/or programming, affecting prosody in many cases. Pilot data (Peter & Stoel-Gammon, 2005) were consistent with the notion that deficits in timing accuracy in speech and music-related tasks may be associated with CAS. This study replicated…

  17. A Motor Speech Assessment for Children with Severe Speech Disorders: Reliability and Validity Evidence

    Science.gov (United States)

    Strand, Edythe A.; McCauley, Rebecca J.; Weigand, Stephen D.; Stoeckel, Ruth E.; Baas, Becky S.

    2013-01-01

    Purpose: In this article, the authors report reliability and validity evidence for the Dynamic Evaluation of Motor Speech Skill (DEMSS), a new test that uses dynamic assessment to aid in the differential diagnosis of childhood apraxia of speech (CAS). Method: Participants were 81 children between 36 and 79 months of age who were referred to the…

  18. 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...

  19. 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…

  20. 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

  1. Performance Components in Senile Dementia of the Alzheimer Type: Motor Planning, Language, and Memory.

    Science.gov (United States)

    Baum, Carolyn Manville; And Others

    1988-01-01

    A study of 133 control subjects and 141 with senile dementia of the Alzheimer type (SDAT) was designed to determine if language, motor planning, and memory were discrete components of performance. It found that patterns were highly individualized, which suggests that apraxia contributes significantly to dysfunction in some people with SDAT. (JOW)

  2. 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.

  3. 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.

  4. Critical appraisal of the long-term impact of memantine in treatment of moderate to severe Alzheimer’s disease

    OpenAIRE

    Umamon Puangthong; Ging-Yuek Robin Hsiung

    2009-01-01

    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 memo...

  5. Critical appraisal of the long-term impact of memantine in treatment of moderate to severe Alzheimer’s disease

    OpenAIRE

    Puangthong, Umamon; Hsiung, Ging-Yuek Robin

    2009-01-01

    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 a...

  6. Preliminary Evaluation of a Personal Healthcare System Prototype for Cognitive eRehabilitation in a Living Assistance Domain

    OpenAIRE

    Matteo Pastorino; Alessio Fioravanti; Maria Teresa Arredondo; José M. Cogollor; Javier Rojo; Manuel Ferre; Marta Bienkiewicz; Joachim Hermsdörfer; Evangelia Fringi; Wing, Alan M.

    2014-01-01

    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 usab...

  7. An fMRI study of imitation: action representation and body schema

    OpenAIRE

    Chaminade, Thierry; Meltzoff, Andrew N.; Decety, Jean

    2005-01-01

    Recent neuropsychological investigations of apraxia have led to new hypotheses about the representational defects associated with imitation impairments in neurological patients. This fMRI experiment investigated the relation between imitation and the body schema in healthy subjects. Experimental conditions were derived from a factorial plan, and participants were asked to watch a human model performing bodily gestures and then to execute either an identical or a different action, with the sam...

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

    OpenAIRE

    Keulen, Stefanie; Marien, P.; Wackenier, Peggy; Jonkers, Roel; Bastiaanse, Yvonne; 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 signifi...

  9. 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.

  10. 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 ...

  11. 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...

  12. The medial frontal-prefrontal network for altered awareness and control of action in corticobasal syndrome

    OpenAIRE

    Wolpe, Noham; Moore, James W.; Rae, Charlotte L.; Rittman, Timothy; Altena, Ellemarije; Haggard, Patrick; Rowe, James B.

    2014-01-01

    The volitional impairments of alien limb and apraxia are a defining feature of the corticobasal syndrome, but a limited under- standing of their neurocognitive aetiology has hampered progress towards effective treatments. Here we combined several key methods to investigate the mechanism of impairments in voluntary action in corticobasal syndrome. We used a quantitative measure of awareness of action that is based on well-defined processes of motor control; structural and functional anatomical...

  13. 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...

  14. Loss in Executive Functioning Best Explains Changes in Pain Responsiveness in Patients with Dementia-Related Cognitive Decline

    OpenAIRE

    Miriam Kunz; Veit Mylius; Karsten Schepelmann; Stefan Lautenbacher

    2015-01-01

    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 patie...

  15. 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...

  16. 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...

  17. [Ataxia telangiectasia: review of 13 new cases].

    Science.gov (United States)

    Valbuena, O; Póo, P; Campistol, J; Vernet, A; Fernández-Alvarez, E; Sierra, I; Gean, E

    1996-01-01

    We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling. PMID:8852005

  18. 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 ...

  19. 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...

  20. 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.)

  1. 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...

  2. An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.

    Science.gov (United States)

    Matsumoto, Arifumi; Suzuki, Hiroyoshi; Fukatsu, Reiko; Shimizu, Hiroshi; Suzuki, Yasushi; Hisanaga, Kinya

    2016-02-01

    We describe an autopsy case of basophilic inclusion body disease (BIBD), a subtype of frontotemporal lobar degeneration (FTLD) with the appearance of fused in sarcoma (FUS) inclusions (FTLD-FUS), clinically presenting corticobasal syndrome (CBS). A 54-year-old man initially developed worsening of stuttering and right hand clumsiness. Neurological examinations revealed rigidity in the right upper and lower extremities, buccofacial apraxia, and right-side dominant limb-kinetic and ideomotor apraxia. Neuroimaging showed asymmetric left-dominant brain atrophy and a cerebral blood flow reduction in the ipsilateral frontal region. At 56 years, his apraxia had advanced, and ideational apraxia was observed. Furthermore, the asymmetry in the limb-kinetic and ideomotor apraxia had disappeared, and both conditions had become bilateral. He had a new onset of aphasia. His symptoms progressed and he died 9 years after the initial symptoms. The brain weighed 955 g. Diffuse brain atrophy was most obvious in the bilateral frontotemporal regions. The atrophy of the left superior frontal and precentral gyri and bilateral basal ganglia was remarkable. Histologically, there was a marked loss of neurons with gliosis in the affected areas, where basophilic neuronal cytoplasmic inclusions were observed. The inclusions were immunoreactive for FUS, p62, and TATA-binding protein-associated factor 15 (TAF15), but not for phosphorylated tau, transactive response DNA-binding protein of 43 kDa (TDP-43), neurofilament protein, or Ewing sarcoma (EWS). From these pathological findings, this case was diagnosed as having BIBD as an FTLD-FUS variant. Spinal cord lower motor neurons were spared in number, similar to primary lateral sclerosis. Mutations in FUS were undetectable. Common background pathologies for CBS include corticobasal degeneration, Alzheimer's disease, PSP, FTLD with phosphorylated TDP-43 inclusions (FTLD-TDP), Pick's disease, Lewy body disease and CJD. However, FTLD-FUS (BIBD

  3. 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.)

  4. Primary progressive aphasia as the initial manifestation of corticobasal degeneration. A "three in one " syndrome?

    Science.gov (United States)

    Ioannides, Panos; Karacostas, Dimitris; Hatzipantazi, Maria; Ioannis, Milonas

    2005-01-01

    In 1994, the term "Pick complex" was proposed to indicate significant clinical and pathological overlapping between primary progressive aphasia, frontal lobe dementia and corticobasal degeneration. We report the case of a 60-year-old man, who initially presented progressive non-fluent aphasia with orofacial apraxia, and subsequently, over a period of 3 years, developed mutism, pathological laughter, extrapyramidal rigidity, dystonia, alien hand syndrome and bulbar signs. An extensive haematological, immunological and biochemical work up was normal. The results of neuroimaging studies and neuropsychological tests, along with the clinical evolution, finally led us to the ?three in one? diagnosis, supporting the concept of Pick complex. PMID:16324238

  5. 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.

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

    International Nuclear Information System (INIS)

    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)

  7. 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

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

    OpenAIRE

    Jorge Emiro Restrepo

    2010-01-01

    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 neuroanatómico...

  9. Neuropsicología clínica y cognoscitiva

    OpenAIRE

    Montañés, Patricia; De Brigard, Felipe

    2005-01-01

    En este libro se realiza la descripción semiológica y sistemática de los procesos que permiten al hombre «ser» (lo que se llama los procesos cognoscitivos), cosa que se perfila como uno de los desafíos más importantes del ser humano: el saber cómo percibimos, hablamos, escribimos, sumamos, aprendemos, recordamos, reconocemos y actuamos, a luz del estudio de las difunciones en cada uno de los procesos, v.gr. afasia, alexia, acalculia, agnosia, apraxia. / Contenido. Preliminares; Capítulo 1 - A...

  10. 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)

  11. 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

  12. 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...... spinal fluid was suggestive for this invasive fungal infection. Despite treatment with voriconazole the patient succumbed to the infection. A rise in rare, severe infectious complications as presented is expected due to increasing dose-intensity of chemotherapy....

  13. 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

  14. 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

  15. Phenotype of FOXP2 Haploinsufficiency in a Mother and Son

    OpenAIRE

    Rice, Gregory M.; Raca, Gordana; Jakielski, Kathy J; Laffin, Jennifer J; Iyama-Kurtycz, Christina M.; Hartley, Sigan L; Sprague, Rae E.; Heintzelman, Anne T.; Shriberg, Lawrence D.

    2011-01-01

    Disruptions in FOXP2, a transcription factor, are the only known monogenic cause of speech and language impairment. We report clinical findings for two new individuals with a submicroscopic deletion of FOXP2: a boy with severe apraxia of speech and his currently moderately affected mother. A 1.57 Mb deletion on chromosome 7q31 was detected by array Comparative Genomic Hybridization (aCGH). In addition to FOXP2, the patients’ deletion involves two other genes, MDFIC and PPP1R3A, neither of whi...

  16. 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)

  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. 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...

  19. 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

  20. [Carbon monoxide poisoning: clinical features of the victims of the explosion accident of Mitsui-Miike Mikawa coal mine 50 years ago].

    Science.gov (United States)

    Kato, Motohiro

    2015-01-01

    Clinical features of carbon monoxide poisoning have been described in 24 victims of an intense explosion accident of the Mitsui-Miike Mikawa coal mine in Japan 50 years ago; these victims were admitted to the Kyushu University Hospital as they suffered from severe poisoning. In the early stage of poisoning, all victims showed disturbed state of consciousness, varying in duration from 5.5 hours to 3 months, and the duration of unconsciousness was closely correlated to the clinical severity in the late stage. Some of the severely poisoned patients showed a transient stage of apallic syndrome. After recovery from unconsciousness, all patients presented with severe amnestic syndrome and loss of initiative. Neurologically, the extrapyramidal signs were prominent in the early stage, which gradually improved in the late stage. Variable types of agnosia and apraxia were apparent in some of the severely and moderately poisoned patients in the late stage, with prominent Gerstmann syndrome and visual-visuospatial agnosias. Since these signs showed poor improvement, the agnosia and apraxia, as well as impaired intellectual ability, remained as a sequela of the poisoning, and were one of the major causes of deficits of the patients in their daily life activities in the late stage. PMID:25585432

  1. 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

  2. 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.

  3. [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

  4. 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

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. Broca's faculté du langage articulé: Language or Praxis?

    Science.gov (United States)

    Eling, Paul

    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-Baptiste Bouillaud and Franz Joseph Gall, and also with a view on the then generally held opinion that the terms aphémie and aphasie were synonyms. I will discuss evidence that patients such as Leborgne, producing only very few words or syllables, suffer from a global aphasia, affecting all modalities, despite Broca's statement that Leborgne's comprehension was intact. I also point to Broca's claim that the faculty of speech, located in the left anterior hemisphere, is independent from hand preference because it is an intellectual and not a motor function, and to his statement that the cerebral convolutions are not motor organs. I finally contend that, in order to determine whether a given language problem should be labeled as aphasia or apraxia, it is crucial to first be clear on the components of old and new models of language production. PMID:26452459

  10. 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.

  11. 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

  12. Paleoneurology: neurodegenerative diseases are age-related diseases of specific brain regions recently developed by Homo sapiens.

    Science.gov (United States)

    Ghika, J

    2008-11-01

    Bipedal locomotion and fine motility of hand and larynx of humans introduced musculoskeletal adaptations, new pyramidal, corticostriatal, corticobulbar, nigrostriatal, and cerebellar pathways and expansions of prefrontal, cingular, parieto-temporal and occipital cortices with derived new brain capabilities. All selectively degenerate in aged homo sapiens following 16 syndromic presentations: (1) Parkinsonism: nigrostriatal control for fast automatic movements of hand, larynx, bipedal posture and gait ("simian gait and hand"). (2) Frontal (highest level) gait disorders (lower body parkinsonism, gait apraxia, retropulsion): prefrontostriatal executive control of bipedal locomotion. (3) ataxia: new synergistic coordination of bipedal gait and fine motility. (4) Dyskinesias (chorea, dystonia, tremor...): intrusions of simian basal ganglia motor subroutines. (5) motoneuron diseases: new proximo-distal and bulbar motoneurones, preserving older ones (oculomotor, abdominal...). (6) Archaic reflexes: prefrontal disinhibition of old mother/tree-climbing-oriented reflexes (sucking, grasping, Babinski/triple retraction, gegenhalten), group alarms (laughter, crying, yawning, grunting...) or grooming (tremor=scratching). (7) Dysautonomia: contextual regulation (orthostatism...). (8) REM sleep disorders of new cortical functions. (9) Corticobasal syndrome: melokinetic control of hand prehension-manipulation and language (retrocession to simian patterns). (10) Frontal/temporal lobe degeneration: medial-orbitofrontal behavioural variant: self monitoring of internal needs and social context: apathy, loss of personal hygiene, stereotypia, disinhibition, loss of concern for consequences of acts, social rules, danger and empathy; dorsolateral executive variant: inadequacy to the context of action (goal, environmental changes...); progressive non-fluent aphasia: executive and praxic processing of speech; temporal variant: abstract concepts for speech, gestures and vision (semantic

  13. 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...

  14. 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.

  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. 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.

  17. 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

  18. Thalamic infarcts and hemorrhages.

    Science.gov (United States)

    Amici, Serena

    2012-01-01

    The anatomy and supply of thalamic arteries are briefly described here. Thalamic infarcts and small-size hemorrhages are classified according to their sites: (1) posterolateral, (2) anterolateral, (3) medial, and (4) dorsal. (1) Posterolateral hemorrhages or lateral thalamic infarcts are usually characterized by severe motor impairment and sensory loss. Transient reduced consciousness, vertical-gaze abnormalities, and small fixed pupils may be evidenced. (2) Patients with anterolateral hemorrhages or tuberothalamic artery infarcts present frontal-type neuropsychological symptoms associated with mild hemiparesis and hemihypesthesia. (3) Medially located hemorrhages or paramedian artery infarcts have decreased levels of consciousness, vertical- and horizontal-gaze abnormalities, amnesia, and abulia. (4) Dorsal hemorrhages or posterior choroidal artery infarcts present with minimal transient hemiparesis and hemihypesthesia; apraxia, aphasia, and amnesia have also been described. PMID:22377880

  19. Cognitive and neuroimaging profile of a Brazilian family with CADASIL

    Directory of Open Access Journals (Sweden)

    Júlio César Vasconcelos da Silva

    2011-06-01

    Full Text Available Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL is an inherited small vessel disease leading to small infarcts and subcortical vascular dementia. This study presents results from the neuropsychological and neuroimaging evaluation of functionally autonomous individuals of a Brazilian family with CADASIL. The causal mutation was confirmed in four family members. Seven individuals from two generations were evaluated using the CERAD battery and additional neuropsychological tests and were submitted (6 individuals to magnetic resonance imaging (MRI of the brain with specific protocols for white matter lesion quantification. Apraxic changes and fast progression over nine months (neuropsychological reevaluation of 6 individuals were found in many individuals. The MRI study suggests greater involvement of frontal lobes in more severely affected individuals. Even functionally independent individuals may exhibit significant neuropsychological and neuroimaging changes. Apraxia, little commented on in literature, and rapidly progressive cognitive changes were found in this group.

  20. 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.)

  1. Senior Loken Syndrome

    Directory of Open Access Journals (Sweden)

    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.

  2. 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.

  3. 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

  4. Introdução da comunicação suplementar e alternativa na terapia com afásicos Introduction of augmentative and alternative communication in aphasia therapy

    OpenAIRE

    Juliana Ferreira Marcolino Galli; Jáima Pinheiro de Oliveira; Débora Deliberato

    2009-01-01

    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 comun...

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

    International Nuclear Information System (INIS)

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

  6. 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

  7. 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.

  8. Regression of chronic posterior leukoencephalopathy after stop of methotrexate treatment.

    Science.gov (United States)

    Marcon, Gabriella; Giovagnoli, Anna Rita; Mangiapane, Paola; Erbetta, Alessandra; Tagliavini, Fabrizio; Girotti, Floriano

    2009-10-01

    Posterior reversible leukoencephalopathy (PRLE) is a neurological disorder caused by a variety of pathological conditions such as high doses or long-term low-doses of immunosuppressive therapy. PRLE associated with methotrexate (MTX) is well known but it was rarely observed in adult patients submitted to long-term low-dose administration via the oral route. Here we report the case of a patient affected by psoriasis, treated by chronic oral low-dose of MTX, who presented with limb ideomotor apraxia. Magnetic resonance (MRI) of the brain showed, on T2-weighted images, a diffuse hyperintensity involving bilaterally the white matter of the occipital, parietal and frontal lobes. MTX treatment was stopped and, at the 6-month follow-up, the neuropsychological performances was improved. Two years later, the neuropsychological profile was normal and MRI showed a regression of the white matter abnormalities. PMID:19626273

  9. 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.

  10. 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. PMID:27277890

  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. 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.

  13. 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

  14. 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

  15. Bilateral contemporaneous posteroventral pallidotomy for the treatment of Parkinson's disease: neuropsychological and neurological side effects. Report of four cases and review of the literature.

    Science.gov (United States)

    Ghika, J; Ghika-Schmid, F; Fankhauser, H; Assal, G; Vingerhoets, F; Albanese, A; Bogousslavsky, J; Favre, J

    1999-08-01

    The authors report the underestimated cognitive, mood, and behavioral complications in patients who have undergone bilateral contemporaneous pallidotomy, as seen in their early experience with functional neurosurgery for Parkinson's disease (PD) that is accompanied by severe motor fluctuations before pallidal stimulation. Four patients, not suffering from dementia, with advanced (Hoehn and Yahr Stages III-IV), medically untreatable PD featuring severe "on-off" fluctuations underwent bilateral contemporaneous posteroventral pallidotomy (PVP). All patients were evaluated according to the Core Assessment Program for Intracerebral Transplantations (CAPIT) protocol without positron emission tomography scans but with additional neuropsychological cognitive, mood, and behavior testing. For the first 3 to 6 months postoperatively, all patients showed a mean improvement of motor scores on the Unified Parkinson's Disease Rating Scale (UPDRS), in the best "on" (21%) and worst "off" (40%) UPDRS III motor subscale, a mean 30% improvement in the UPDRS II activities of daily living (ADL) subscore, and 60% on the UPDRS IV complications of treatment subscale. Dyskinesia disappeared almost completely, and the mean daily duration of the off time was reduced by an average of 60%. Despite these good results in the CAPIT scores, one patient experienced a partially regressive corticobulbar syndrome with dysphagia, dysarthria, and increased drooling. No emotional lability was found in this patient, but he did demonstrate severe bilateral postoperative pretarsal blepharospasm (apraxia of eyelid opening), which interfered with walking and which required treatment with high-dose subcutaneous injections of botulinum toxin. No patient showed visual field defects or hemiparesis, but postoperative depression, changes in personality, behavior, and executive functions were seen in two individuals. Postoperative abulia was reported by the family of one patient, who lost his preoperative

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

    Science.gov (United States)

    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

  17. 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

  18. [Posterior cortical atrophy. Pathology, diagnosis and treatment of a rare form of dementia].

    Science.gov (United States)

    Ortner, M; Kurz, A

    2015-07-01

    The syndrome of posterior cortical atrophy (PCA) is a rare clinical manifestation of several neurodegenerative diseases which affect the parieto-occipital cortex. The most frequent underlying pathology is Alzheimer's disease but some cases are caused by Lewy body disease, progressive subcortical gliosis, corticobasal degeneration or prion diseases. The most prominent clinical feature of PCA is complex visual disturbances including object agnosia, simultanagnosia, optical ataxia and oculomotor apraxia while basic visual functions remain intact. These deficits lead to multiple impairments in activities of daily living that require visual control. On progression of the disease amnestic, apraxic and dysexecutive symptoms occur so that a global dementia gradually emerges. At the core of the diagnostic work-up are a detailed patient history, accurate analysis of behavior and neuropsychological testing. Structural and functional brain imaging are suitable to demonstrate the localization of the disease process. Measurement of cerebrospinal fluid proteins (e.g. beta amyloid, tau, phospho-tau and 14-3-3) serves to confirm or exclude Alzheimer's disease or prion diseases. The mainstay of treatment are non-pharmacological interventions to support activities of daily living and personal independence. These treatments include cognitive training and compensatory strategies which can be prescribed as neuropsychological treatment or occupational therapy. If Alzheimer's disease or Lewy body disease is the likely cause, a treatment with cholinesterase inhibitor may be tried. Caregiver education and support are another essential part of the treatment regimen as with all forms of dementia. PMID:25791802

  19. 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

  20. 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.

  1. Arl13b and the exocyst interact synergistically in ciliogenesis.

    Science.gov (United States)

    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. PMID:26582389

  2. 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.

  3. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

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    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.

  4. 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

  5. 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

  6. Cerebral blood flow and metabolism analysis in parkinsonian disorders; Pathologie extrapyramidale. Apport de l'imagerie de perfusion et du metabolisme (TEP, TEM)

    Energy Technology Data Exchange (ETDEWEB)

    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)

  7. Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.

    Science.gov (United States)

    Deng, Bo; Lian, Yan; Wang, Xin; Zeng, Fan; Jiao, Bin; Wang, Ye-Ran; Liang, Chun-Rong; Liu, Yu-Hui; Bu, Xian-Le; Yao, Xiu-Qing; Zhu, Chi; Shen, Lu; Zhou, Hua-Dong; Zhang, Tao; Wang, Yan-Jiang

    2014-10-01

    This study has identified a gene mutation in a Chinese family with Alzheimer's disease (AD). Family members were screened by a set of medical examinations and neuropsychological tests. Their DNA was extracted from blood cells and sequenced for gene mutation in the amyloid precursor protein (APP), the presenilin 1 (PS1) and the presenilin 2 (PS2) genes. Genetic analysis showed that the AD patients in the family harbored a T to G missense mutation at the position 314 in exon 4 of the PS1 gene, resulting in a change of F105C in amino acid sequence. Clinical manifestation of these patients included memory loss, counting difficulty, personality change, disorientation, dyscalculia, agnosia, aphasia, and apraxia, which was similar to that of the familial AD (FAD) patients harboring other PS1 mutations. We intend to add a novel mutation F105C of the PS1 gene to the pool of FAD mutations. With the current available genetic data, mutations of the PS1 gene account for the majority of gene mutations in Chinese FAD. PMID:24737487

  8. A girl with tuberous sclerosis complex presenting with severe epilepsy and electrical status epilepticus during sleep, and with high-functioning autism and mutism.

    Science.gov (United States)

    Pacheva, Iliyana; Panov, Georgi; Gillberg, Christopher; Neville, Brian

    2014-06-01

    Most patients with tuberous sclerosis complex (TSC) suffer from epilepsy, and many have cognitive and behavioral problems like severe intellectual disability, autism, and hyperactivity. Only rare patients with TSC and autism have a normal intelligence quotient. We report a 13-year-old girl with definite TSC who had early-onset severe epilepsy, autistic behavior, and moderate developmental delay. By school age, however, she had normal intelligence; her intelligence quotient was at least 70 based on a Stanford-Binet test that she refused to complete. She showed good reading, writing, and language comprehension skills, and the special abilities of hyperlexia, hypermnesia, and hypercalculia. However, she did not speak. Criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and her Childhood Autism Rating Scale score of 36 indicated mild to moderate autism. She had severe electroencephalographic abnormalities: hypsarrhythmia, multifocal or generalized epileptiform discharges, and electrical status epilepticus during sleep, with a continuous left temporal focus. Magnetic resonance imaging showed many cortical tubers in all brain lobes, and subependymal nodules. We discuss possible explanations for her lack of speech. Considered as speech apraxia, her mutism could be either a symptom of her TSC or a component of her autism. Another possibility is that long-lasting electrical status epilepticus during sleep led to her autistic behavior and language arrest. Still another possibility is that a disinhibited mammalian target of rapamycin (mTOR) pathway was at the root of all of her neuropsychiatric symptoms. PMID:24968009

  9. Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX.

    Science.gov (United States)

    Samango-Sprouse, Carole; Keen, Colleen; Mitchell, Francie; Sadeghin, Teresa; Gropman, Andrea

    2015-10-01

    Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age = 11.0), Patient 2 (age = 10.9), and Patient 3 (age = 6.4) were evaluated using comprehensive neurodevelopmental assessments. Parent questionnaires were completed to assess behavioral and psychosocial domains including executive function, ADHD and anxiety. Nonverbal intelligence quotients were 56, 80, and 91 for Patients 1, 2, and 3, respectively. There were significantly impaired visual motor capacities in graphomotor and perceptual domains below the 5th centile in Patients 1 and 2, and mildly impaired visual perception skills in Patient 3. All three patients had Childhood Apraxia of Speech (CAS) but of varying severity and similar executive dysfunction, externalizing problems and social difficulties. Familial learning disabilities (FLD) in Patient 1 and the co-occurrence of ADHD in Patient's 1 and 2 may contribute to their more impaired cognitive performances relative to Patient 3 who is the second reported case of 48, XXXX to have normal intellect. These distinct and overlapping characteristics expand the phenotypic profile of 48, XXXX and may be used in the counseling of families and treatment of children with 48, XXXX. PMID:26086740

  10. [Bilateral caudate head infarcts].

    Science.gov (United States)

    Kuriyama, N; Yamamoto, Y; Akiguchi, I; Oiwa, K; Nakajima, K

    1997-11-01

    We reported a 67-year-old woman with bilateral caudate head infarcts. She developed sudden mutism followed by abulia. She was admitted to our hospital 2 months after ictus for further examination. She showed prominent abulia and was inactive, slow and apathetic. Spontaneous activity and speech, immediate response to queries, spontaneous word recall and attention and persistence to complex programs were disturbed. Apparent motor disturbance, gait disturbance, motor aphasia, apraxia and remote memory disturbance were not identified. She seemed to be depressed but not sad. Brain CT and MRI revealed bilateral caudate head hemorrhagic infarcts including bilateral anterior internal capsules, in which the left lesion was more extensive than right one and involved the part of the left putamen. These infarct locations were thought to be supplied by the area around the medial striate artery including Heubner's arteries and the A1 perforator. Digital subtraction angiography showed asymptomatic right internal carotid artery occlusion. She bad had hypertension, diabetes mellitus and atrial fibrillation and also had a left atrium with a large diameter. The infarcts were thought to be caused by cardioembolic occlusion to the distal portion of the left internal carotid artery. Although some variations of vasculature at the anterior communicating artery might contribute to bilateral medial striate artery infarcts, we could not demonstrate such abnormalities by angiography. Bilateral caudate head infarcts involving the anterior internal capsule may cause prominent abulia. The patient did not improve by drug and rehabilitation therapy and died suddenly a year after discharge. PMID:9503974

  11. Preliminary Evaluation of a Personal Healthcare System Prototype for Cognitive eRehabilitation in a Living Assistance Domain

    Directory of Open Access Journals (Sweden)

    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.

  12. 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.

  13. Functional MRT in psychiatry and neurology. 2. rev. and upd. ed.; Funktionelle MRT in Psychiatrie und Neurologie

    Energy Technology Data Exchange (ETDEWEB)

    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).

  14. Clinical and genetic features of ataxia-telangiectasia

    International Nuclear Information System (INIS)

    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)

  15. 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).

  16. Two action systems in the human brain.

    Science.gov (United States)

    Binkofski, Ferdinand; Buxbaum, Laurel J

    2013-11-01

    The distinction between dorsal and ventral visual processing streams, first proposed by Ungerleider and Mishkin (1982) and later refined by Milner and Goodale (1995) has been elaborated substantially in recent years, spurred by two developments. The first was proposed in large part by Rizzolatti and Matelli (2003) and is a more detailed description of the multiple neural circuits connecting the frontal, temporal, and parietal cortices. Secondly, there are a number of behavioral observations that the classic "two visual systems" hypothesis is unable to accommodate without additional assumptions. The notion that the Dorsal stream is specialized for "where" or "how" actions and the Ventral stream for "What" knowledge cannot account for two prominent disorders of action, limb apraxia and optic ataxia, that represent a double dissociation in terms of the types of actions that are preserved and impaired. A growing body of evidence, instead, suggests that there are at least two distinct Dorsal routes in the human brain, referred to as the "Grasp" and "Use" systems. Both of these may be differentiated from the Ventral route in terms of neuroanatomic localization, representational specificity, and time course of information processing. PMID:22889467

  17. Reasons for holding a Consensus Conference on neuropsychological rehabilitation in adult patients.

    Science.gov (United States)

    Làdavass, E; Paolucci, S; Umiltà, C

    2011-03-01

    Neuropsychological deficits are common in various cerebrovascular, neurodegenerative and traumatic pathologies. Neuropsychological rehabilitation refers to a set of interventions that aim to improve a person's ability to perform cognitive tasks by retraining previously learned skills and teaching compensatory strategies. However, today there are some relevant points that need of further investigations. In 2007, a Task Force was set up under the auspices of several scientific societies that operate in the field of psychology, neuropsychology, rehabilitation and neurology (AIP, GIRN, SIMFER, SIN, SINP, and SPAN) with the aim to clarify the theoretical background of neuropsychological rehabilitation and to assess the diagnostic instruments and the treatments available to date. This consensus conference (CC), using methods derived from those of Evidence-Based-Medicine (EMB), evaluated several points, including: a) legal aspects; b) epidemiological aspects; c) neuropsychological rehabilitation of attentional and executive disorders; d) neuropsychological rehabilitation of speech/language disorders; e) neuropsychological rehabilitation of visual field defects; f) neuropsychological rehabilitation of neglect; g) neuropsychological rehabilitation of memory disorders; h) cognitive rehabilitation of arm apraxia; i) neuropsychological rehabilitation of Alzheimer disease; j) rehabilitation of multiple sclerosis; k) rehabilitation of severe brain injuries; l) rehabilitation of mild to moderate brain injuries; m) rehabilitation of behavioral disorders in severe brain injuries. Then, CC submitted to a specific Jury a final report with summary tables and questions. The final meeting of the Jury was held in Siena in February 2010. PMID:21448122

  18. 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

  19. Tc-99m HMPAO brain uptake patterns in patients with dementia of Alzheimer type

    International Nuclear Information System (INIS)

    Conventional gamma camera SPECT with Tc-99m HMPAO (10 MBq/kg patient weight) was carried out in 21 patients with dementia of Alzheimer type (DAT), fulfilling the criteria established by the National Institute of Neurological and Communicative Disorders and Stroke and the ADRDA criteria (nine with amnesia as the main symptom [group 1], 12 with amnesia, aphasia, and/or apraxia and agnosia [group 2], and eight age-matched control subjects. Perfusion was quantitatively studied by means of cerebrum-cerebellum activity ratios. In group 1, perfusion deficits in the mesial cortex of the temporal lobes (right, 0.70; left, 0.68) were found, and ratios were significantly lower than in the control group (right, 0.77; left, 0.76 [P < .05]). Group 2 showed low ratios throughout both temporal lobes (mesial and lateral cortex), bilaterally in the posterior parietal cortex (right, 0.69; left, 0.66 [control: right, 0.80; left, 0.81] [P < .001]), and left frontal cortex (0.75 [control, 0.79] [P < .05]). In conclusion, SPECT with Tc-99m HMPAO identifies perfusion deficits in patients with DAT, and these correlate well with the clinical findings and are significantly different from those in the control group

  20. The ventral fiber pathway for pantomime of object use.

    Science.gov (United States)

    Vry, Magnus-Sebastian; Tritschler, Linda C; Hamzei, Farsin; Rijntjes, Michel; Kaller, Christoph P; Hoeren, Markus; Umarova, Roza; Glauche, Volkmar; Hermsdoerfer, Joachim; Goldenberg, Georg; Hennig, Juergen; Weiller, Cornelius

    2015-02-01

    The current concept of a dual loop system of brain organization predicts a domain-general dual-pathway architecture involving dorsal and ventral fiber connections. We investigated if a similar dichotomy of brain network organization applies for pantomime (P) and imitation of meaningless gestures (I). Impairments of these tasks occur after left hemispheric brain lesions causing apraxia. Isolated impairments and double-dissociations point towards an anatomical segregation. Frontal and parietal areas seem to contribute differently. A special role of the inferior frontal gyrus and underlying fiber pathways was suggested recently. Using a combined fMRI/DTI-approach, we compared the fiber pathway architecture of left hemispheric frontal, temporal and parietal network components of pantomime and imitation. Thereby, we separated object effects from pantomime-specific effects. P and I both engage a fronto-temporo-parietal network of cortical areas interconnected by a dorsal fiber system (superior longitudinal fascicle) for direct sensory-motor interactions. The pantomime-specific effect additionally involved the triangular part of the inferior frontal gyrus, the middle temporal gyrus, the inferior parietal cortex and the intraparietal sulcus, interconnected by ventral fibers of the extreme capsule, likely related to higher-order conceptual and semantic operations. We discuss this finding in the context of the dual loop model and recent anatomical concepts. PMID:25462791

  1. 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

  2. Melodic Intonation Therapy: Back to Basics for Future Research

    Directory of Open Access Journals (Sweden)

    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.

  3. "Closing-in" phenomenon in Alzheimer's disease and subcortical vascular dementia

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    Kwak Yong

    2004-01-01

    Full Text Available Abstract Background The 'closing-in' phenomenon is defined as a tendency to close in on a model while copying it. This is one of several constructional apraxia observed in dementia, particularly in Alzheimer's disease (AD. The aim of this study was to investigate the usefulness of it in the differential diagnosis of AD and subcortical vascular dementia (SVD and to clarify the factors associated with it. Methods We operationally defined and classified it into three types, namely overlap, adherent, and near type. We analyzed the incidence of it in patients with AD (n = 98 and SVD (n = 48. Results AD patients exhibited a significantly higher occurrence of it as compared to SVD patients. Among the different types of it, the overlap and adherent types occurred almost exclusively in AD patients. A discriminant analysis in AD subjects revealed that the scores obtained from the MMSE, CDR, Barthel index, and the Rey-Osterrieth complex figure test were correlated significantly with the occurrence of it. There was no statistical difference between the Q-EEG parameters of patients that exhibited the closing-in phenomenon and those that did not. Conclusions This study suggests that the closing-in phenomenon is phase- and AD-specific and might be a useful tool for the differential diagnosis of AD and SVD.

  4. [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

  5. 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).

  6. Aprataxin resolves adenylated RNA–DNA junctions to maintain genome integrity

    Energy Technology Data Exchange (ETDEWEB)

    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.

  7. Cognitive training modifies frequency EEG bands and neuropsychological measures in Rett syndrome.

    Science.gov (United States)

    Fabio, Rosa Angela; Billeci, Lucia; Crifaci, Giulia; Troise, Emilia; Tortorella, Gaetano; Pioggia, Giovanni

    2016-01-01

    Rett syndrome (RS) is a childhood neurodevelopmental disorder characterized by a primary disturbance in neuronal development. Neurological abnormalities in RS are reflected in several behavioral and cognitive impairments such as stereotypies, loss of speech and hand skills, gait apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. Cognitive training can enhance both neuropsychological and neurophysiological parameters. The aim of this study was to investigate whether behaviors and brain activity were modified by training in RS. The modifications were assessed in two phases: (a) after a short-term training (STT) session, i.e., after 30min of training and (b) after long-term training (LTT), i.e., after 5 days of training. Thirty-four girls with RS were divided into two groups: a training group (21 girls) who underwent the LTT and a control group (13 girls) that did not undergo LTT. The gaze and quantitative EEG (QEEG) data were recorded during the administration of the tasks. A gold-standard eye-tracker and a wearable EEG equipment were used. Results suggest that the participants in the STT task showed a habituation effect, decreased beta activity and increased right asymmetry. The participants in the LTT task looked faster and longer at the target, and show increased beta activity and decreased theta activity, while a leftward asymmetry was re-established. The overall result of this study indicates a positive effect of long-term cognitive training on brain and behavioral parameters in subject with RS. PMID:26859707

  8. 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

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

    Directory of Open Access Journals (Sweden)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

  12. 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.

  13. 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.

  14. The right cerebral hemisphere: emotion, music, visual-spatial skills, body-image, dreams, and awareness.

    Science.gov (United States)

    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. 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)

  16. 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

  17. Environment-driven responses in progressive supranuclear palsy.

    Science.gov (United States)

    Ghika, J; Tennis, M; Growdon, J; Hoffman, E; Johnson, K

    1995-05-01

    The neurological signs and behaviors that accompany degenerative diseases associated with fronto-striatal dysfunction are incompletely described. We observed several novel environmentally-driven behaviors in seven patients with progressive supranuclear palsy (PSP). All patients had cognitive deficits with greatest impairments on tests of frontal lobe function, and frontal lobe cerebral perfusion was significantly reduced in 4 of the 5 who had single photon emission computed tomography (SPECT) brain scans. Visual grasping, in which a patient's gaze was attracted to an incidental object in the environment such as a TV set or mirror, was preeminent. Once fixed, there was inability to release the gaze and shift to another object. In other instances, removing a table placed in front of a patient or unbuckling of his seat belt would make him stand up, which was impossible on command. Similarly, playing music would induce rhythmic foot beating, which was never obtained on command. There were compulsive utilization behaviors, such as repetitively picking up and replacing the telephone for no apparent reason. As expected, there were signs of heightened facial reflexes, grasp reflexes, apraxia of eyelid opening, echolalia and echopraxia. We postulate that these stimuli-oriented behaviors stem from parietal lobe disinhibition due to fronto-striatal dysfunction. PMID:7650525

  18. Physical Therapy Intervention for Individuals with Rett Syndrome

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    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.

  19. 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)

    International Nuclear Information System (INIS)

    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

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

    Science.gov (United States)

    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

  1. Clinical and genetic features of ataxia-telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    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).

  2. 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.)

  3. 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

  4. 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

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    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

  5. 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

  6. Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia.

    Science.gov (United States)

    Nagao, Shigeto; Yokota, Osamu; Nanba, Reiko; Takata, Hiroshi; Haraguchi, Takashi; Ishizu, Hideki; Ikeda, Chikako; Takeda, Naoya; Oshima, Etsuko; Sakane, Katsuaki; Terada, Seishi; Ihara, Yuetsu; Uchitomi, Yosuke

    2012-12-15

    We report an autopsy case of progressive supranuclear palsy (PSP) that clinically showed only slowly progressive and symmetric upper motor neuron syndrome over a disease course of 12 years. A female patient initially exhibited dysarthria at the age of 65, followed by gait disturbance and dysphagia. Neurological examination at age 67 disclosed pseudobulbar palsy, spastic gait, hyperreflexia, and presence of bilateral Hoffmann and Babinski signs. However, muscle atrophy, weakness, evidence of denervation on electromyography, vertical gaze palsy, parkinsonism, gait freezing, aphasia, speech apraxia, or dementia was not noted throughout the course. She was clinically diagnosed as having motor neuron disease consistent with so-called primary lateral sclerosis. Pathological examination disclosed histopathological features of PSP, including argyrophilic and tau-positive tufted astrocytes, neurofibrillary tangles, coiled bodies, and thread-like processes in the motor cortex and superior frontal gyrus, and to a lesser degree, in the basal ganglia and brain stem nuclei. In addition, severe fibrillary gliosis was noted in the precentral gyrus and corticospinal tract, being consistent with upper motor neuron syndrome observed in this case. No TAR-DNA binding protein 43-positive lesion, FUS pathology, Bunina body, or Lewy body-like hyaline inclusion was noted in the motor cortex or lower motor neurons. These findings suggest that when tau pathology is prominent in the motor cortex but is minimal in the basal ganglia and brain stem nuclei, a PSP case can lack all classic clinical features of PSP and show only slowly progressive upper motor syndrome, consistent with clinical picture of primary lateral sclerosis. PMID:23026537

  7. CT classification of small thalamic hemorrhages

    International Nuclear Information System (INIS)

    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. (J.P.N.)

  8. 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)

  9. 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

  10. 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.

  11. 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

  12. Communicating hydrocephalus following eosinophilic meningitis is pathogenic for chronic Viliuisk encephalomyelitis in Northeastern Siberia.

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    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.

  13. 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

  14. Progress in the last decade in our understanding of primary progressive aphasia

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    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. The neural substrates of drawing: a voxel-based morphometry analysis of constructional, hierarchical, and spatial representation deficits.

    Science.gov (United States)

    Chechlacz, Magdalena; Novick, Abigail; Rotshtein, Pia; Bickerton, Wai-Ling; Humphreys, Glyn W; Demeyere, Nele

    2014-12-01

    Deficits in the ability to draw objects, despite apparently intact perception and motor abilities, are defined as constructional apraxia. Constructional deficits, often diagnosed based on performance on copying complex figures, have been reported in a range of pathologies, perhaps reflecting the contribution of several underlying factors to poor figure drawing. The current study provides a comprehensive analysis of brain-behavior relationships in drawing disorders based on data from a large cohort of subacute stroke patients (n = 358) using whole-brain voxel-wise statistical analyses linked to behavioral measures from a complex figure copy task. We found that (i) overall poor performance on figure copying was associated with subcortical lesions (BG and thalamus), (ii) lateralized deficits with respect to the midline of the viewer were associated with lesions within the posterior parietal lobule, and (iii) spatial positioning errors across the entire figure were associated with lesions within visual processing areas (lingual gyrus and calcarine) and the insula. Furthermore, deficits in reproducing global aspects of form were associated with damage to the right middle temporal gyrus, whereas deficits in representing local features were linked to the left hemisphere lesions within calcarine cortex (extending into the cuneus and precuneus), the insula, and the TPJ. The current study provides strong evidence that impairments in separate cognitive mechanisms (e.g., spatial coding, attention, motor execution, and planning) linked to different brain lesions contribute to poor performance on complex figure copying tasks. The data support the argument that drawing depends on several cognitive processes operating via discrete neuronal networks and that constructional problems as well as hierarchical and spatial representation deficits contribute to poor figure copying. PMID:24893744

  16. Lesion-symptom mapping of a complex figure copy task: A large-scale PCA study of the BCoS trial.

    Science.gov (United States)

    Chen, Haobo; Pan, Xiaoping; Lau, Johnny King Lam; Bickerton, Wai-Ling; Pradeep, Boddana; Taheri, Maliheh; Humphreys, Glyn; Rotshtein, Pia

    2016-01-01

    Complex figure copying is a commonly used neuropsychological test. Here we explored the neural basis of the factors underlying complex figure copying (CFC), using data from the Birmingham Cognitive Screen (BCoS) in a large group of sub-acute, ischemic stroke patients (239). We computed two analyses: in the first we assessed the contribution of co-morbid deficits (i.e. in gesture processing, object use, visual neglect, pictures naming and sustained attention) to the lesions associated with CFC. In a second analysis a Principle Component Analysis (PCA) was used to isolate different underlying task components and to link to clinical neuroimaging scans. A voxel-based morphometry (VBM) analysis showed that poor CFC performance was associated with lesions to bi-lateral thalamus, lingual, right fusiform and right inferior parietal cortices (rIPC). The latter association with the posterior parietal cortex was diminished after controlling for neglect. Follow up analysis showed the neglect partially mediated the correlation of CFC and rIPC. The PCA revealed three main underlying components: (1) a component associated with high-level motor control common to different measures of apraxia and linked to the left postcentral gyrus, the right thalamus and middle frontal gyrus; (2) a visuo-motor transformation component unique to the CFC and associated with lesions to the posterior occipital and sensory cortices; (3) a component associated with multistep object use tasks which was correlated with lesions to the left inferior frontal orbital gyrus, the right fusiform and cerebellum. Using clinical symptoms, cognitive profiles and lesion mapping we showed that beyond visual perception, CFC performance is supported by three functional networks: one for high-level motor control, a visuo-motor transformation component, and multistep object use network. PMID:27182489

  17. 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

  18. [Psychopathology in children with dyspraxia].

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    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

  19. 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

  20. Lesion-symptom mapping of a complex figure copy task: A large-scale PCA study of the BCoS trial

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    Chen, Haobo; Pan, Xiaoping; Lau, Johnny King Lam; Bickerton, Wai-Ling; Pradeep, Boddana; Taheri, Maliheh; Humphreys, Glyn; Rotshtein, Pia

    2016-01-01

    Complex figure copying is a commonly used neuropsychological test. Here we explored the neural basis of the factors underlying complex figure copying (CFC), using data from the Birmingham Cognitive Screen (BCoS) in a large group of sub-acute, ischemic stroke patients (239). We computed two analyses: in the first we assessed the contribution of co-morbid deficits (i.e. in gesture processing, object use, visual neglect, pictures naming and sustained attention) to the lesions associated with CFC. In a second analysis a Principle Component Analysis (PCA) was used to isolate different underlying task components and to link to clinical neuroimaging scans. A voxel-based morphometry (VBM) analysis showed that poor CFC performance was associated with lesions to bi-lateral thalamus, lingual, right fusiform and right inferior parietal cortices (rIPC). The latter association with the posterior parietal cortex was diminished after controlling for neglect. Follow up analysis showed the neglect partially mediated the correlation of CFC and rIPC. The PCA revealed three main underlying components: (1) a component associated with high-level motor control common to different measures of apraxia and linked to the left postcentral gyrus, the right thalamus and middle frontal gyrus; (2) a visuo-motor transformation component unique to the CFC and associated with lesions to the posterior occipital and sensory cortices; (3) a component associated with multistep object use tasks which was correlated with lesions to the left inferior frontal orbital gyrus, the right fusiform and cerebellum. Using clinical symptoms, cognitive profiles and lesion mapping we showed that beyond visual perception, CFC performance is supported by three functional networks: one for high-level motor control, a visuo-motor transformation component, and multistep object use network. PMID:27182489

  1. Anodal transcranial direct current stimulation of parietal cortex enhances action naming in Corticobasal Syndrome

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    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.

  2. A patient with Moyamoya-like vessels after radiation therapy for a tumor in the basal ganglia

    International Nuclear Information System (INIS)

    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)

  3. Homonymous Hemianopsia Associated with Probable Alzheimer's Disease.

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    Ishiwata, Akiko; Kimura, Kazumi

    2016-01-01

    Posterior cortical atrophy (PCA) is a rare neurodegenerative disorder that has cerebral atrophy in the parietal, occipital, or occipitotemporal cortices and is characterized by visuospatial and visuoperceptual impairments. The most cases are pathologically compatible with Alzheimer's disease (AD). We describe a case of PCA in which a combination of imaging methods, in conjunction with symptoms and neurological and neuropsychological examinations, led to its being diagnosed and to AD being identified as its probable cause. Treatment with donepezil for 6 months mildly improved alexia symptoms, but other symptoms remained unchanged. A 59-year-old Japanese woman with progressive alexia, visual deficit, and mild memory loss was referred to our neurologic clinic for the evaluation of right homonymous hemianopsia. Our neurological examination showed alexia, constructional apraxia, mild disorientation, short-term memory loss, and right homonymous hemianopsia. These findings resulted in a score of 23 (of 30) points on the Mini-Mental State Examination. Occipital atrophy was identified, with magnetic resonance imaging (MRI) showing left-side dominance. The MRI data were quantified with voxel-based morphometry, and PCA was diagnosed on the basis of these findings. Single photon emission computed tomography with (123)I-N-isopropyl-p-iodoamphetamine showed hypoperfusion in the corresponding voxel-based morphometry occipital lobes. Additionally, the finding of hypoperfusion in the posterior associate cortex, posterior cingulate gyrus, and precuneus was consistent with AD. Therefore, the PCA was considered to be a result of AD. We considered Lewy body dementia as a differential diagnosis because of the presence of hypoperfusion in the occipital lobes. However, the patient did not meet the criteria for Lewy body dementia during the course of the disease. We therefore consider including PCA in the differential diagnoses to be important for patients with visual deficit, cognitive

  4. [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

  5. Precuneus atrophy in early-onset Alzheimer's disease: a morphometric structural MRI study

    International Nuclear Information System (INIS)

    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.)

  6. 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.

  7. 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

  8. Evaluation of diet and life style in etiopathogenesis of senile dementia: A survey study.

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    Chaudhuri, Kundan; Samarakoon, S M S; Chandola, H M; Kumar, Rajesh; Ravishankar, B

    2011-04-01

    Mind and body are inseparable entities and influences each other until death. Many factors such as stress, anxiety, depression, negative thoughts, unhealthy life style, unwholesome diet etc., disturb mental and physical wellbeing. Senile dementia is the mental deterioration, i.e, loss of intellectual ability associated with old age. It causes progressive deterioration of mental faculties, e.g., memory, intellect, attention, thinking, comprehension and personality, with preservation of normal level of consciousness. Two major types of senile dementia have been identified, namely that due to generalized atrophy in the cortical area of the brain (Alzheimer's type) and that due to vascular disorders mainly due to stroke. According to DSM-IV (diagnostic and statistical manual of mental disorders), the essential feature of dementia is the development of multiple cognitive deficits that include memory impairment and at least one of the following cognitive disturbances such as aphasia, apraxia, agnosia, or a disturbance in executive function. For the present study, a standardized questionnaire in the form of proforma incorporating types of foods (madhura, amla and lavana rasayukta ahara etc.) and life style (divaswapna, ratrijagarana and manasika bhavas etc) is prepared. To assess manasika bhava, Hamilton Anxiety Rating Scale, Hamilton Depression Rating Scale, Brief Psychiatry Rating Scale, and standardized gradations of anumana pariksha of manasika bhavas mentioned by Charaka at Vimana Sthana 4/8 were adopted. In this study, most of the patients had disturbed sleep, tendency to indulge in defective dietary habits and kapha vitiating diets and life style. On Hamilton Anxiety Rating Scale, patients had anxiety, tension, depression, difficulty in concentration, and memory. On Hamilton Depression Rating Scale, these patients had anxiety, depression, and hypochondriasis. On Brief Psychiatry Rating Scale, psychological factors affected include: anxiety, depression, somatic

  9. Creatine transporter deficiency: Novel mutations and functional studies.

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    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

  10. Multiple Intracerebral Hemorrhages in an Old Patient with Rheumatoid Arthritis.

    Science.gov (United States)

    Cojocaru, Inimioara Mihaela; Ştefănescu, V; Traşcă, Daniela; Şerban-Pereţeanu, Adelina; Chicoş, B; Cojocaru, M

    2015-01-01

    A 78-year-old Caucasian man was admitted in the Department of Neurology for visual disturbances, started two days before. The next day the patient experienced headache, fever and gait disturbances. He had hypertension, diabetes mellitus, an ischemic stroke 13 years ago, longstanding seronegative rheumatoid arthritis (17 years), polynodular goiter, right ischio-pubian fracture and right femoral vein thrombosis a year ago due to a car accident, since he is treated with oral anticoagulants associated to antiaggregant, hypotensors, statin and oral antidiabetics. The neurologic examination had evidenced nuchal rigidity, left homonymous hemianopsia, left central facial palsy, ataxia of the inferior limbs with wide-based gait, achilean reflexes abolished bilaterally, bilaterally abolished plantar reflexes, ideomotor apraxia, dysarthria, hypoprosexia, and preserved consciousness patient. A non-contrast cerebral CT scan had shown right temporal and parieto-occipital intraparenchymatous hemorrhages, a right frontal sequelar lesion, multiple old lacunar infarets, cortical atrophy. Laboratory findings included an inflammatory syndrome, absence of rheumatoid arthritis positive serology, normal coagulogram, an elevated proteinuria. The cerebral IRM performed on the seventh day of hospitalisation was suggestive for subacute right parietal hemorrhage, old cerebral infarction in the right anterior cerebral artery area, old lacunar infarcts and cerebral atrophy. The anticoagulant and antiaggregant treatment was stopped after a generalized tonic-clonic seizure occurred. Antiedematous, hypotensor, anticonvulsivant, beta-blocker, and symptomatic treatment was started, while the antidiabetic treatment was continued. All symptoms remitted. Arguments for amyloid angiopathy in our patient are previous non-cardioembolic ischemic stroke and a chronic inflammatory disease- rheumatoid arthritis in his personal medical history. PMID:26939215

  11. Imaging of rare radiation injuries after radiosurgery for brain metastases

    International Nuclear Information System (INIS)

    Gamma knife radiosurgery (GKS) is generally an effective and safe treatment for brain metastases. We report 3 rare complicated cases after GKS due to radiation injury including image findings. Case 1: A 58-year-old man received whole brain radiation therapy for right occipital brain metastasis from lung cancer. However, local recurrence was noted and GKS was carried out 5 months later (size 28 mm, marginal dose 23 Gy (50% isodose)). Four years later, a cyst appeared and the patient developed apraxia and visual disturbance. Surgery was performed and the histopathology showed necrosis. Case 2: A 51-year-old woman received GKS for 4 brain metastases from breast cancer. The right occipital lobe lesion was treated with marginal dose of 18 Gy (size 24 mm, 50% isodose). Thirty-one months later, she developed left homonymous hemianopsia and MR imaging and CT scan showed intracerebral hemorrhage with cyst formation. An operation was performed and the histology revealed necrosis. Case 3: A 37-year-old man received GKS for left temporal brain metastasis from lung cancer (size 14 mm, marginal dose 23 Gy (50% isodose)). Twelve months later, the lesion increased in size again, so we carried out a second GKS on the same lesion (size 15 mm, marginal dose 23 Gy (50% isodose)). Thirty-five months later, massive peritumoral edema appeared and the patient developed left oculomotor palsy. An emergency operation was performed and the histopathological diagnosis was cavernous malformation that was thought to be induced by radiosurgery. Although the incidence is low, rare complications associated with radiation therapy can also occur by radiosurgery. (author)

  12. An fMRI study of the neural basis hand postures specific to tool use. Presidential award proceedings

    International Nuclear Information System (INIS)

    Patients with apraxia are often unable to mimic the use of a tool, even when it is presented visually. Such mimicking involves various cognitive and motor processes, including the visual perception of a tool and the manipulation of imagined tools. Although previous studies reported the involvement of several brain areas, including the left inferior parietal lobule, in such tool-use action, the details of each process have not been well understood. To clarify the neural basis of the process involved in forming hand postures for using tools, we used functional magnetic resonance imaging (fMRI) in normal volunteers to investigate brain activation while they formed hand postures for tool manipulation. Three conditions were evaluated in separate block-designed fMRI series, formation of hand posture (A) using a tool, (B) imitating such a hand posture, and (C) to imitate the shape of a tool. Subjects formed their right hand in a manner specified according to the task conditions. Hand posturing for condition (A) induced activation in the left inferior frontal gyrus (BA 45), left inferior parietal lobule (BA 40), and the premotor area compared with the imitative posturing of condition (B). Activation in these areas might be related to processes shared by tool-use pantomime. On the other hand, comparison between conditions (A) and (C) demonstrated activation in the right superior parietal lobule (BA 7). This activation may reflect spatial regulation, in which the subject was prepared to hold and manipulate the tool. Formation of static hand postures to prepare for tool use may employ a neural network shared by various tool-use actions, such as pantomime. In addition, forming hand postures may require close coordination between the tool and hand. (author)

  13. 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

  14. 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

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    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.

  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. 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

  17. 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.

  18. Frontobasal gray matter loss is associated with the TREM2 p.R47H variant.

    Science.gov (United States)

    Luis, Elkin O; Ortega-Cubero, Sara; Lamet, Isabel; Razquin, Cristina; Cruchaga, Carlos; Benitez, Bruno A; Lorenzo, Elena; Irigoyen, Jaione; Pastor, Maria A; Pastor, Pau

    2014-12-01

    A rare heterozygous TREM2 variant p.R47H (rs75932628) has been associated with an increased risk for Alzheimer's disease (AD). We aimed to investigate the clinical presentation, neuropsychological profile, and regional pattern of gray matter and white matter loss associated with the TREM2 variant p.R47H, and to establish which regions best differentiate p.R47H carriers from noncarriers in 2 sample sets (Spanish and Alzheimer's Disease Neuroimaging Initiative, ADNI1). This was a cross-sectional study including a total number of 16 TREM2 p.R47H carriers diagnosed with AD or mild cognitive impairment, 75 AD p.R47H noncarriers and 75 cognitively intact TREM2 p.R47H noncarriers. Spanish AD TREM2 p.R47H carriers showed apraxia (9 of 9) and psychiatric symptoms such as personality changes, anxiety, paranoia, or fears more frequently than in AD noncarriers (corrected p = 0.039). For gray matter and white matter volumetric brain magnetic resonance imaging voxelwise analyses, we used statistical parametric mapping (SPM8) based on the General Linear Model. We used 3 different design matrices with a full factorial design. Voxel-based morphometry analyses were performed separately in the 2 sample sets. The absence of interset statistical differences allowed us to perform joint and conjunction analyses. Independent voxel-based morphometry analysis of the Spanish set as well as conjunction and joint analyses revealed substantial gray matter loss in orbitofrontal cortex and anterior cingulate cortex with relative preservation of parietal lobes in AD and/or mild cognitive impairment TREM2 p.R47H carriers, suggesting that TREM2 p.R47H variant is associated with certain clinical and neuroimaging AD features in addition to the increased TREM2 p.R47H atrophy in temporal lobes as described previously. The high frequency of pathologic behavioral symptoms, combined with a preferential frontobasal gray matter cortical loss, suggests that frontobasal and temporal regions could be more

  19. [Novel advances in neuropsychology--forward to the "deconstruction" of psychiatry].

    Science.gov (United States)

    Ohigashi, Yoshitaka

    2006-01-01

    Neuropsychology has recently become a science which deals not only with instrumental disorders (e.g., aphasia, apraxia, and agnosia), but also with impairments of interpersonal relationships (e.g., emotional cognitions, social decision making, and understanding others), and many important paradigms are already provided. We could enumerate several representative instances: (1)application of the "theory of mind" to autistic or related disorders (-->"reasoning of psychological state of others"), (2) neuropsychological studies on the "social brain" concerning emotional recognition or social recognition (-->"amygdale, orbitofrontal cortex, and medial ventral frontal cortex"), (3) identifying related cerebral areas (-->"superior temporal sulcus") to detect eye or body movements of others, (4) discovering the mirror neuron and mirror systems in monkeys and humans (-->"imitation of the behavior of others in the brain"), and (5) intracerebral processes which may occur precedent to conscious intention (-->"consciousness as post-hoc phenomena"). These novel paradigms might lead us to the "deconstruction" of psychiatry. We believe that the fundamental assignments of neuropsychology should inquire into "cognitive representation", "conscious representation", and "cerebral representation" about the inner processes of human activities. As these assignments would be almost the same for the psychiatric symptoms, we do not have any necessity to fundamentally distinguish psychiatric and neuropsychologial symptoms. These two kinds of signs will be attributed finally to the same dimension. The specificity of psychiatry resides in "conscious representation" and its cerebral foundations. We reconsidered the "Theory of Neural Group Selection" proposed by Edelman and the excellent experimental results on the relationship between intention and movements reported by Libet, et al.. All these results strongly indicate the absolute necessity to reconsider conscious causality and psychogenesis

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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.

  6. Treatment of Frontotemporal Dementia

    Science.gov (United States)

    Boxer, Adam L.

    2016-01-01

    small percentage of patients may experience improvement with a trial of carbidopa-levodopa. Physical and occupational therapy remain an important corner stone of motor symptom management in FTD. Speech therapy may also help patients manage symptoms associated with aphasia, apraxia, and dysarthria. Recent advances in the understanding of FTLD pathophysiology and genetics have led to development of potentially disease-modifying therapies as well as symptomatic therapies aimed at ameliorating social and behavioral deficits. PMID:25238733

  7. Avaliação do desempenho escolar e praxias em crianças com Epilepsia Rolândica School performance and praxis assessment in children with Rolandic Epilepsy

    Directory of Open Access Journals (Sweden)

    Ecila Paula dos Mesquita de Oliveira

    2010-09-01

    Full Text Available TEMA: Epilepsia Rolândica é a forma mais freqüente de epilepsia da infância. Ela é classificada como idiopática, idade-dependente e de evolução benigna. A ausência de comprometimento neuropsicológico faz parte dos critérios de benignidade desta síndrome epiléptica.Entretanto, recentemente têm sido sugeridos vários déficits relacionados à atenção e linguagem. OBJETIVO: o objetivo desse trabalho foi avaliar o desempenho escolar e investigar dificuldades práxicas em pacientes com epilepsia rolândica e comparar a um grupo controle composto por crianças normais com idade, gênero e nível escolar equivalentes. MÉTODO: dezenove pacientes com idade entre 7 e 12 anos foram submetidos a avaliação neurológica clínica, avaliação psicológica, através das Escalas Weschsler de Inteligência e avaliação fonoaudiológica, onde foram avaliados o desempenho escolar e a investigação da presença ou não de dificuldades práxicas. RESULTADOS: os dados mostraram que apesar da eficiência intelectual (medida pelo Quociente Inteligência - QI estar dentro da média, crianças com epilepsia rolândica mostraram um desempenho significativamente mais pobre do que o grupo controle em provas de escrita, aritmética e leitura. Outro aspecto importante evidenciado foi a ausência de apraxia orofacial nas crianças do grupo afetado. CONCLUSÃO: deve ser ressaltado que a avaliação de crianças com epilepsia é necessária porque isso pode revelar distúrbios específicos que exigem ajuda profissional apropriada. Analisando a ocorrência de distúrbios de linguagem oral e/ou escrita nessas crianças, pode-se evitar um maior prejuízo acadêmico, social e emocional, afinal o prognóstico de uma síndrome epiléptica não depende exclusivamente do controle de crises, pois problemas sociais ou culturais podem interferir tanto quanto as crises na qualidade de vida dos pacientes.BACKGROUND: Rolandic Epilepsy is the most common form of childhood

  8. 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

  9. 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

  10. 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.

  11. [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

  12. 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

  13. 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

  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