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Sample records for apraxias

  1. Apraxia

    Science.gov (United States)

    ... or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out ... or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out ...

  2. Apraxia

    Science.gov (United States)

    ... phrases to avoid misunderstandings. Speak in a normal tone of voice. Speech apraxia is not a hearing problem. DO NOT assume that the person understands. Provide communication aids, if possible, depending on the person and ...

  3. Apraxia-Kids

    Science.gov (United States)

    ... Items Video & Music Jewelry & Accessories Books & Cards Stay Connected Apraxia-KIDS E-mail Listserv Get Apraxia Kids News Notifications Home Children with apraxia of speech have great difficulty planning and producing the precise, ...

  4. Apraxia of lid opening

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    Jebasingh Y

    2006-01-01

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

  5. Apraxias in neurodegenerative dementias

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    Sadanandavalli Retnaswami Chandra

    2015-01-01

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

  6. 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.

  7. The basal ganglia and apraxia.

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    Pramstaller, P P; Marsden, C D

    1996-02-01

    Ever since Liepmann's original descriptions at the beginning of the century apraxia has usually been attributed to damage confined to the cerebral cortex and/or cortico-cortical connecting pathways. However, there have been suggestions that apraxia can be due to deep subcortical lesions, which raises the question as to whether damage to the basal ganglia or thalamus can cause apraxia. We therefore analysed 82 cases of such 'deep' apraxias reported in the literature. These reports consisted of a small number (n=9) of cases studied neuropathologically, and a much larger group (n=73) in which CT or MRI was used to identify the size and extent of the lesion. The reports were subdivided into (i) those with small isolated lesions which involved nuclei of the basal ganglia or thalamus only, and not extending to involve periventricular or peristriatal white matter; (ii) those with large lesions which involved two or more of the nuclei, or one or more of these deep structures plus damage to closely adjacent areas including the internal capsule, periventricular or peristriatal white matter; and (iii) lesions sparing basal ganglia and thalamus but involving adjacent white matter. The main conclusions to be drawn from this meta-analysis are that lesions confined to the basal ganglia (putamen, caudate nucleus and globus pallidus) rarely, if ever, cause apraxia. Lesions affecting the lenticular nucleus or putamen nearly always intruded into the adjacent lateral white matter to involve association fibres, in particular those of the superior longitudinal fasciculus and frontostriatal connections. Apraxia occurred with deep lesions of the basal ganglia apparently sparing white matter in only eight out of the 82 cases. Apraxia was most commonly seen when there were lesions in the lenticular nucleus or putamen (58 out of 72 cases) with additional involvement of capsular, and particularly of periventricular or peristriatal, white matter. Lesions of the globus pallidus (no cases) or

  8. Cerebellum and apraxia.

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    Mariën, Peter; van Dun, Kim; Verhoeven, Jo

    2015-02-01

    As early as the beginning of the nineteenth century, a variety of nonmotor cognitive and affective impairments associated with cerebellar pathology were occasionally documented. A causal link between cerebellar disease and nonmotor cognitive and affective disorders has, however, been dismissed for almost two centuries. During the past decades, the prevailing view of the cerebellum as a mere coordinator of autonomic and somatic motor function has changed fundamentally. Substantial progress has been made in elucidating the neuroanatomical connections of the cerebellum with the supratentorial association cortices that subserve nonmotor cognition and affect. Furthermore, functional neuroimaging studies and neurophysiological and neuropsychological research have shown that the cerebellum is crucially involved in modulating cognitive and affective processes. This paper presents an overview of the clinical and neuroradiological evidence supporting the view that the cerebellum plays an intrinsic part in purposeful, skilled motor actions. Despite the increasing number of studies devoted to a further refinement of the typology and anatomoclinical configurations of apraxia related to cerebellar pathology, the exact underlying pathophysiological mechanisms of cerebellar involvement remain to be elucidated. As genuine planning, organization, and execution disorders of skilled motor actions not due to motor, sensory, or general intellectual failure, the apraxias following disruption of the cerebrocerebellar network may be hypothetically considered to form part of the executive cluster of the cerebellar cognitive affective syndrome (CCAS), a highly influential concept defined by Schmahmann and Sherman (Brain 121:561-579, 1998) on the basis of four symptom clusters grouping related neurocognitive and affective deficits (executive, visuospatial, affective, and linguistic impairments). However, since only a handful of studies have explored the possible role of the cerebellum in

  9. Limb apraxia in multiple sclerosis

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    Rapaić Dragan

    2014-01-01

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

  10. Loss of agency in apraxia

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    Mariella ePazzaglia

    2014-09-01

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

  11. Apraxia: neural mechanisms and functional recovery.

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    Foundas, Anne L

    2013-01-01

    Apraxia is a cognitive-motor disorder that impacts the performance of learned, skilled movements. Limb apraxia, which is the topic of this chapter, is specific to disordered movements of the upper limb that cannot be explained by weakness, sensory loss, abnormalities of posture/tone/movement, or a lack of understanding/cooperation. Patients with limb apraxia have deficits in the control or programming of the spatial-temporal organization and sequencing of goal-directed movements. People with limb apraxia can have difficulty manipulating and using tools including cutting with scissors or making a cup of coffee. Two praxis systems have been identified including a production system (action plan and production) and a conceptual system (action knowledge). Dysfunction of the former produces ideomotor apraxia (e.g., difficulty using scissors), and dysfunction of the latter induces ideational apraxia (e.g., difficulty making a cup of coffee). Neural mechanisms, including how to evaluate apraxia, will be presented in the context of these two praxis systems. Information about these praxis systems, including the nature of the disordered limb movement, is important for rehabilitation clinicians to understand for several reasons. First, limb apraxia is a common disorder. It is common in patients who have had a stroke, in neurodegenerative disorders like Alzheimer disease, in traumatic brain injury, and in developmental disorders. Second, limb apraxia has real world consequences. Patients with limb apraxia have difficulty managing activities of daily living. This factor impacts healthcare costs and contributes to increased caregiver burden. Unfortunately, very few treatments have been systematically studied in large numbers of patients with limb apraxia. This overview of limb apraxia should help rehabilitation clinicians to educate patients and caregivers about this debilitating problem, and should facilitate the development of better treatments that could benefit many people in

  12. [Progressive anarthria: one case without lingual apraxia].

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    Infante, J; Sánchez Guerra, M; Polo, J M; Carril, J M; Berciano, J; Oterino, A

    2000-05-01

    Progressive anarthria is a focal cortical degenerative disorder characterized by a profound, progressive alteration in speech without impairment in other cognitive domains. The first symptoms consist of an alteration in the articulation of speech producing telegraphic speech. The disorder invariably progress towards anarthria by deprogramming of the phonation and orolingual movements (bucophonetic apraxia). This type of apraxia is usually associated with orolinguofacial apraxia and it has been anatomofunctionally correlated with frontal opercular involvement of left predominance. The patient presented as progressive anarthria in the absence of manifest orolingual apraxia associated with a predominance of cortical atrophy in the right frontal operculum. This semiological dissociation emphasizes the importance of bucophonatory apraxia in the pathophysiology of progressive anarthria.

  13. 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

  14. Shared neural substrates of apraxia and aphasia.

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    Goldenberg, Georg; Randerath, Jennifer

    2015-08-01

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

  15. The relationship between apraxia of speech and oral apraxia: association or dissociation?

    OpenAIRE

    Whiteside, S.P.; Dyson, L.; Cowell, P. E.; Varley, R.A.

    2015-01-01

    Acquired apraxia of speech (AOS) is a motor speech disorder that affects the implementation of articulatory gestures and the fluency and intelligibility of speech. Oral apraxia (OA) is an impairment of nonspeech volitional movement. Although many speakers with AOS also display difficulties with volitional nonspeech oral movements, the relationship between the 2 conditions is unclear. This study explored the relationship between speech and volitional nonspeech oral movement impairment in a sam...

  16. Motor Programming in Apraxia of Speech

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    Maas, Edwin; Robin, Donald A.; Wright, David L.; Ballard, Kirrie J.

    2008-01-01

    Apraxia of Speech (AOS) is an impairment of motor programming. However, the exact nature of this deficit remains unclear. The present study examined motor programming in AOS in the context of a recent two-stage model [Klapp, S. T. (1995). Motor response programming during simple and choice reaction time: The role of practice. "Journal of…

  17. Cognitive Functions in Childhood Apraxia of Speech

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    Nijland, Lian; Terband, Hayo; Maassen, Ben

    2015-01-01

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

  18. Cognitive functions in Childhood Apraxia of Speech

    NARCIS (Netherlands)

    Nijland, L.; Terband, H.; Maassen, B.

    2015-01-01

    Purpose: Childhood Apraxia of Speech (CAS) is diagnosed on the basis of specific speech characteristics, in the absence of problems in hearing, intelligence, and language comprehension. This does not preclude the possibility that children with this speech disorder might demonstrate additional proble

  19. Treatment Intensity and Childhood Apraxia of Speech

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

    2015-01-01

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

  20. Treatment intensity and childhood apraxia of speech

    NARCIS (Netherlands)

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

    2015-01-01

    BackgroundIntensive treatment has been repeatedly recommended for the treatment of speech deficits in childhood apraxia of speech (CAS). However, differences in treatment outcomes as a function of treatment intensity have not been systematically studied in this population. AimTo investigate the effe

  1. Childhood Apraxia of Speech Family Start Guide

    Science.gov (United States)

    ... is right for every child with apraxia of speech. Commercial products, programs, apps or kits can be […] Read More What To Look for In an SLP for Your Child In the United States, speech-language pathologists (SLP) are certified by the American ...

  2. Review of Apraxia: The cognitive side of motor control

    DEFF Research Database (Denmark)

    Martínez-Ferreiro, Silvia

    2014-01-01

    Reviews the book, Apraxia: The Cognitive Side of Motor Control by G. Goldenberg (see record 2013-31133-000). The book makes a significant contribution to the study of this multifaceted syndrome, especially in relation to limb apraxia, the author’s main research area. Despite more than 100 years o...... and current state of apraxia research. (PsycINFO Database Record (c) 2014 APA, all rights reserved)...

  3. Apraxia, pantomime and the parietal cortex.

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    Niessen, E; Fink, G R; Weiss, P H

    2014-01-01

    Apraxia, a disorder of higher motor cognition, is a frequent and outcome-relevant sequel of left hemispheric stroke. Deficient pantomiming of object use constitutes a key symptom of apraxia and is assessed when testing for apraxia. To date the neural basis of pantomime remains controversial. We here review the literature and perform a meta-analysis of the relevant structural and functional imaging (fMRI/PET) studies. Based on a systematic literature search, 10 structural and 12 functional imaging studies were selected. Structural lesion studies associated pantomiming deficits with left frontal, parietal and temporal lesions. In contrast, functional imaging studies associate pantomimes with left parietal activations, with or without concurrent frontal or temporal activations. Functional imaging studies that selectively activated parietal cortex adopted the most stringent controls. In contrast to previous suggestions, current analyses show that both lesion and functional studies support the notion of a left-hemispheric fronto-(temporal)-parietal network underlying pantomiming object use. Furthermore, our review demonstrates that the left parietal cortex plays a key role in pantomime-related processes. More specifically, stringently controlled fMRI-studies suggest that in addition to storing motor schemas, left parietal cortex is also involved in activating these motor schemas in the context of pantomiming object use. In addition to inherent differences between structural and functional imaging studies and consistent with the dedifferentiation hypothesis, the age difference between young healthy subjects (typically included in functional imaging studies) and elderly neurological patients (typically included in structural lesion studies) may well contribute to the finding of a more distributed representation of pantomiming within the motor-dominant left hemisphere in the elderly.

  4. Reviewing the limb apraxia concept: From definition to cognitive neuropsychological models

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    Joana Mantovani-Nagaoka

    Full Text Available Abstract Apraxia is a disorder of learned skilled movements, in the absence of elementary motor or sensory deficits and general cognitive impairment such as inattention to commands, object-recognition deficits or poor oral comprehension. The first studies on apraxia were performed between the late 19th and early 20th centuries, however controversy remains in praxis literature concerning apraxia types, neuroanatomical and functional correlates, as well as assessment and treatment of apraxia. Thus, a critical review of the literature was conducted searching the literature for evidence contributing to a more detailed description of apraxia and its clinical patterns, physiopathology and clinico-anatomical correlations, as well as apraxia assessment.

  5. The Relationship Between Apraxia of Speech and Oral Apraxia: Association or Dissociation?

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    Whiteside, Sandra P; Dyson, Lucy; Cowell, Patricia E; Varley, Rosemary A

    2015-11-01

    Acquired apraxia of speech (AOS) is a motor speech disorder that affects the implementation of articulatory gestures and the fluency and intelligibility of speech. Oral apraxia (OA) is an impairment of nonspeech volitional movement. Although many speakers with AOS also display difficulties with volitional nonspeech oral movements, the relationship between the 2 conditions is unclear. This study explored the relationship between speech and volitional nonspeech oral movement impairment in a sample of 50 participants with AOS. We examined levels of association and dissociation between speech and OA using a battery of nonspeech oromotor, speech, and auditory/aphasia tasks. There was evidence of a moderate positive association between the 2 impairments across participants. However, individual profiles revealed patterns of dissociation between the 2 in a few cases, with evidence of double dissociation of speech and oral apraxic impairment. We discuss the implications of these relationships for models of oral motor and speech control.

  6. Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2

    OpenAIRE

    Péter eKlivényi; Dezso eNemeth; Tamás eSefcsik; Karolina eJanacsek; Ildiko eHoffmann; Gábor Péter Háden; Zsuzsa eLonde; László eVécsei

    2012-01-01

    Background: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (AFP) levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of the present study was to investigate the neuropsychological profile of a 54-year-old patient with ...

  7. Utility of testing for apraxia and associated features in dementia

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    Ahmed, Samrah; Baker, Ian; Thompson, Sian; Husain, Masud; Butler, Christopher R

    2016-01-01

    Introduction Existing literature suggests that the presence or absence of apraxia and associated parietal deficits may be clinically relevant in differential diagnosis of dementia syndromes. Aim This study investigated the profile of these features in Alzheimer's disease (AD) and frontotemporal dementia (FTD) spectrum disorders, at first presentation. Methods Retrospective case note analysis was undertaken in 111 patients who presented to the Oxford Cognitive Disorders Clinic, Oxford, UK, including 29 amnestic AD, 12 posterior cortical atrophy (PCA), 12 logopenic primary progressive aphasia (lvPPA), 20 behavioural variant FTD (bvFTD), 7 non-fluent variant PPA (nfvPPA), 6 semantic variant PPA (svPPA) and 25 patients with subjective cognitive impairment (SCI). The clinical features of interest were: limb apraxia, apraxia of speech (AOS), and left parietal symptoms of dyslexia, dysgraphia, and dyscalculia. Results The prevalence of limb apraxia was highest in PCA, amnestic AD, lvPPA and nfvPPA. AOS was only observed in nfvPPA. Associated parietal features were more prevalent in AD spectrum than FTD spectrum disorders. Group comparisons between key differential diagnostic challenges showed that lvPPA and nfvPPA could be significantly differentiated on the presence of left parietal features and AOS, and amnestic AD could be differentiated from bvFTD, svPPA and SCI by limb apraxia. Regression analysis showed that limb apraxia could successfully differentiate between AD and FTLD spectrum disorders with 83% accuracy. Discussion Disease-specific profiles of limb apraxia and associated deficits can be observed. FTD and AD spectrum disorders can be difficult to differentiate due to overlapping cognitive symptoms, and measures of apraxia, in particular, appear to be a promising discriminator. PMID:27251676

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

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    Jay Guido Capone

    2003-01-01

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

  9. Goal-directed imitation in patients with ideomotor apraxia

    NARCIS (Netherlands)

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

    2005-01-01

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

  10. Script Training Treatment for Adults with Apraxia of Speech

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

    2011-01-01

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

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

    NARCIS (Netherlands)

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

    2002-01-01

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

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

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

    2015-01-01

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

  13. Oral Articulatory Control in Childhood Apraxia of Speech

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

    2015-01-01

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

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

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    Sealey, Linda R.; Giddens, Cheryl L.

    2010-01-01

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

  15. Psycholinguistic and motor theories of apraxia of speech.

    Science.gov (United States)

    Ziegler, Wolfram

    2002-11-01

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

  16. A case of crossed aphasia with apraxia of speech

    Directory of Open Access Journals (Sweden)

    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.

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

    NARCIS (Netherlands)

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

    2006-01-01

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

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

    NARCIS (Netherlands)

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

    2006-01-01

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

  19. Early-Onset Friedreich's Ataxia With Oculomotor Apraxia

    Directory of Open Access Journals (Sweden)

    Amene Saghazadeh

    2017-02-01

    Full Text Available Friedreich’s ataxia (FRDA is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1 is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia. Here we describe two siblings (13- and 10-year-old display overlapping clinical features of both early-onset FRDA and AOA1. Almost all of laboratory test (including urinary analysis/culture, biochemistry, peripheral blood smear, C-reactive protein level, erythrocyte sedimentation rate-1h results were within the normal range for both patients. Due to the normal laboratory test results; we concluded that the diagnosis was more likely to be FRDA than AOA1. Therefore, neurologists should bear in mind that clinical presentations of FRDA may vary widely from the classical phenotype of gait and limb ataxia to atypical manifestations such as oculomotor apraxia.

  20. 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

  1. A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech.

    Science.gov (United States)

    Marshall, Charles R; Guerreiro, Rita; Thust, Steffi; Fletcher, Phillip; Rohrer, Jonathan D; Fox, Nick C

    2015-01-01

    The authors describe a case of corticobasal syndrome led by progressive apraxia of speech, associated with a novel mutation in exon 10 of the MAPT gene. Genetic bases for progressive apraxia of speech and corticobasal syndrome are only rarely described, and have not been described in conjunction.

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

    DEFF Research Database (Denmark)

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

    2001-01-01

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

  3. 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

  4. 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

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

    NARCIS (Netherlands)

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

    1998-01-01

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

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

    NARCIS (Netherlands)

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

    2001-01-01

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

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

    NARCIS (Netherlands)

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

    2001-01-01

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

  8. Phonological analysis of substitution errors of patients with apraxia of speech

    Directory of Open Access Journals (Sweden)

    Maysa Luchesi Cera

    Full Text Available Abstract The literature on apraxia of speech describes the types and characteristics of phonological errors in this disorder. In general, phonemes affected by errors are described, but the distinctive features involved have not yet been investigated. Objective: To analyze the features involved in substitution errors produced by Brazilian-Portuguese speakers with apraxia of speech. Methods: 20 adults with apraxia of speech were assessed. Phonological analysis of the distinctive features involved in substitution type errors was carried out using the protocol for the evaluation of verbal and non-verbal apraxia. Results: The most affected features were: voiced, continuant, high, anterior, coronal, posterior. Moreover, the mean of the substitutions of marked to markedness features was statistically greater than the markedness to marked features. Conclusions: This study contributes toward a better characterization of the phonological errors found in apraxia of speech, thereby helping to diagnose communication disorders and the selection criteria of phonemes for rehabilitation in these patients.

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

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    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

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

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    Marta M. N. Bienkiewicz

    2014-04-01

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

  11. Evolutionary autonomous agents and the nature of apraxia

    Directory of Open Access Journals (Sweden)

    Jin Frank

    2005-01-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  13. Neurophysiology of speech differences in childhood apraxia of speech.

    Science.gov (United States)

    Preston, Jonathan L; Molfese, Peter J; Gumkowski, Nina; Sorcinelli, Andrea; Harwood, Vanessa; Irwin, Julia R; Landi, Nicole

    2014-01-01

    Event-related potentials (ERPs) were recorded during a picture naming task of simple and complex words in children with typical speech and with childhood apraxia of speech (CAS). Results reveal reduced amplitude prior to speaking complex (multisyllabic) words relative to simple (monosyllabic) words for the CAS group over the right hemisphere during a time window thought to reflect phonological encoding of word forms. Group differences were also observed prior to production of spoken tokens regardless of word complexity during a time window just prior to speech onset (thought to reflect motor planning/programming). Results suggest differences in pre-speech neurolinguistic processes.

  14. Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2

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    Péter eKlivényi

    2012-08-01

    Full Text Available Background: Ataxia with oculomotor apraxia type 2 (AOA2 is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of the present study was to investigate the neuropsychological profile of a 54-year-old patient with AOA2. Methods: A broad range of neuropsychological examination protocol was administered including the following domains: short-term, working- and episodic- memories, executive functions, implicit sequence learning, and the temporal parameters of speech. Results: The performance on the Listening Span, Letter Fluency, Serial Reaction Time Task and pause ratio in speech was 2 or more standard deviations (SD lower compared to controls, and 1 SD lower on Backward Digit Span, Semantic Fluency, articulation rate and speech tempo. Conclusions: These findings indicate that the pathogenesis of the cerebrocerebellar circuit in AOA2 is responsible for the weaker coordination of complex cognitive functions such as working memory, executive functions, speech and sequence learning.

  15. Apraxia and spatial inattention dissociate in left hemisphere stroke.

    Science.gov (United States)

    Timpert, David C; Weiss, Peter H; Vossel, Simone; Dovern, Anna; Fink, Gereon R

    2015-10-01

    Theories of lateralized cognitive functions propose a dominance of the left hemisphere for motor control and of the right hemisphere for spatial attention. Accordingly, spatial attention deficits (e.g., neglect) are more frequently observed after right-hemispheric stroke, whereas apraxia is a common consequence of left-hemispheric stroke. Clinical reports of spatial attentional deficits after left hemisphere (LH) stroke also exist, but are often neglected. By applying parallel analysis (PA) and voxel-based lesion-symptom mapping (VLSM) to data from a comprehensive neuropsychological assessment of 74 LH stroke patients, we here systematically investigate the relationship between spatial inattention and apraxia and their neural bases. PA revealed that apraxic (and language comprehension) deficits loaded on one common component, while deficits in attention tests were explained by another independent component. Statistical lesion analyses with the individual component scores showed that apraxic (and language comprehension) deficits were significantly associated with lesions of the left superior longitudinal fascicle (SLF). Data suggest that in LH stroke spatial attention deficits dissociate from apraxic (and language comprehension) deficits. These findings contribute to models of lateralised cognitive functions in the human brain. Moreover, our findings strongly suggest that LH stroke patients should be assessed systematically for spatial attention deficits so that these can be included in their rehabilitation regime.

  16. Limb apraxia in acute ischemic stroke: a neglected clinical challenge?

    Science.gov (United States)

    Schell, Caroline; Suchan, Julia; Himmelbach, Marc; Haarmeier, Thomas; Borchers, Svenja

    2014-04-01

    Symptoms of limb apraxia and executive dysfunctions are currently not explicitly considered by the National Institutes of Health Stroke Scale and, thus, not routinely tested by clinicians in the acute care of patients with suspected stroke. Neuropsychological testing, clinical examination, MRI, and functional magnetic resonance imaging (fMRI) were performed in a right-handed patient with acute onset of left-sided sensorimotor hemiparesis due to a right hemisphere ischemic stroke. Deficits in the execution of meaningless and meaningful gestures were not detected properly on initial clinical examination but were revealed later on through neuropsychological testing. Instead, the patient's inability to respond to specific instructions in the acute care setting was mistaken to reflect severe deficits in auditory comprehension. fMRI revealed right-hemispheric localization of language in the right-handed patient. We suggest including a bedside test for limb apraxia symptoms in acute clinical care of stroke patients. The distinction between deficits in limb praxis and impairments of language can be complicated owing to the common hemispheric co-localization of the two functions.

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

    Science.gov (United States)

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

    2016-06-01

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

  18. Dystypia: isolated typing impairment without aphasia, apraxia or visuospatial impairment.

    Science.gov (United States)

    Otsuki, Mika; Soma, Yoshiaki; Arihiro, Shoji; Watanabe, Yoshimasa; Moriwaki, Hiroshi; Naritomi, Hiroaki

    2002-01-01

    We report a 60-year-old right-handed Japanese man who showed an isolated persistent typing impairment without aphasia, agraphia, apraxia or any other neuropsychological deficit. We coined the term 'dystypia' for this peculiar neuropsychological manifestation. The symptom was caused by an infarction in the left frontal lobe involving the foot of the second frontal convolution and the frontal operculum. The patient's typing impairment was not attributable to a disturbance of the linguistic process, since he had no aphasia or agraphia. The impairment was not attributable to the impairment of the motor execution process either, since he had no apraxia. Thus, his typing impairment was deduced to be based on a disturbance of the intermediate process where the linguistic phonological information is converted into the corresponding performance. We hypothesized that there is a specific process for typing which branches from the motor programming process presented in neurolinguistic models. The foot of the left second frontal convolution and the operculum may play an important role in the manifestation of 'dystypia'.

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

    Directory of Open Access Journals (Sweden)

    Masayuki Satoh

    2016-09-01

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

  20. The relationship between severity of apraxia of speech and working memory

    Directory of Open Access Journals (Sweden)

    Karin Zazo Ortiz

    Full Text Available Abstract Based on previously observed relationships between working memory (WM and speech, the current study investigated the relationship between degree of oral apraxia (AOS and WM capacity. Methods: This study involved assessment and classification of degree of apraxia of speech in 22 apraxic participants and evaluation of WM capacity using digit span and word-list repetition tests. Both tests were able to assess the phonoarticulatory loop, while the Rey Auditory Verbal Learning Test investigated the phonoarticulatory loop and the episodic buffer. Results: Independently from the degree of apraxia of speech, all of participants presented compromise in WM. Conclusions: The data presented might suggest that individuals with AOS typically have WM impairment, but it is still not clear if the severity of AOS is related to WM capacity. Future studies could verify the relationship between the severity of apraxia and the severity of WM deficits.

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

    OpenAIRE

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

    2015-01-01

    Objective. To assess the presence of nonverbal and verbal apraxia in patients with Parkinson's disease (PD) and analyze the correlation between these conditions and patient age, education, duration of disease, and PD stage, as well as evaluate the correlation between the two types of apraxia and the frequency and types of verbal apraxic errors made by patients in the sample. Method. This was an observational prevalence study. The sample comprised 45 patients with PD seen at the Movement Disor...

  2. The neuroanatomy of pure apraxia of speech in stroke.

    Science.gov (United States)

    Graff-Radford, Jonathan; Jones, David T; Strand, Edythe A; Rabinstein, Alejandro A; Duffy, Joseph R; Josephs, Keith A

    2014-02-01

    The left insula or Broca's area have been proposed as the neuroanatomical correlate for apraxia of speech (AOS) based on studies of patients with both AOS and aphasia due to stroke. Studies of neurodegenerative AOS suggest the premotor area and the supplementary motor areas as the anatomical correlates. The study objective was to determine the common infarction area in patients with pure AOS due to stroke. Patients with AOS and no or equivocal aphasia due to ischemic stroke were identified through a pre-existing database. Seven subjects were identified. Five had pure AOS, and two had equivocal aphasia. MRI lesion analysis revealed maximal overlap spanning the left premotor and motor cortices. While both neurodegenerative AOS and stroke induced pure AOS involve the premotor cortex, further studies are needed to establish whether stroke-induced AOS and neurodegenerative AOS share a common anatomic substrate.

  3. Systematic review of apraxia treatments to improve occupational performance outcomes.

    Science.gov (United States)

    Lindsten-McQueen, Kathryn; Weiner, Nikki Williamson; Wang, Hsin-Yen; Josman, Naomi; Connor, Lisa Tabor

    2014-01-01

    The objective was to assess effectiveness of apraxia treatments using a systematic review. In contrast to previous reviews, each study was rated as to its applicability to occupational therapy practice and its focus on occupational performance using the FAME rating system (defined by four categories: Feasibility, Appropriateness, Meaningfulness, Effectiveness). This systematic review included eight studies: four randomized controlled trials (level 1 evidence) and four pre-post designs (level 3 evidence). Three treatment approaches were reported: errorless learning with training of details; gesture training; and strategy training. FAME scores ranged from A to C. All studies reported significant treatment effects, but only one demonstrated an impact on observed occupational performance that transferred from clinic to home.

  4. Infantile-onset saccade initiation delay (congenital ocular motor apraxia).

    Science.gov (United States)

    Salman, Michael S

    2015-05-01

    Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders.

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

    Directory of Open Access Journals (Sweden)

    Armin Schnider

    1991-01-01

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

  6. MRI with fibre tracking in Cogan congenital oculomotor apraxia

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-10-15

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

  7. Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: link to corticobasal degeneration?

    Science.gov (United States)

    Bowen, Lauren N; Subramony, S H; Heilman, Kenneth M

    2015-01-01

    Corticobasal syndrome (CBS) is associated with asymmetrical rigidity as well as asymmetrical limb-kinetic and ideomotor apraxia. Stiff person syndrome (SPS) is characterized by muscle stiffness and gait difficulties. Whereas patients with CBS have several forms of pathology, many patients with SPS have glutamic acid decarboxylase antibodies (GAD-ab), but these 2 disorders have not been reported to coexist. We report 2 patients with GAD-ab-positive SPS who also had signs suggestive of CBS, including asymmetrical limb rigidity associated with both asymmetrical limb-kinetic and ideomotor apraxia. Future studies should evaluate patients with CBS for GAD-ab and people with SPS for signs of CBS.

  8. Right hand predominant constructional apraxia due to right hemisphere infarction without corpus callosum lesions.

    Science.gov (United States)

    Kobayashi, Zen; Watanabe, Mayumi; Karibe, Yuri; Nakazawa, Chika; Numasawa, Yoshiyuki; Tomimitsu, Hiroyuki; Shintani, Shuzo

    2014-01-01

    A 74-year-old right-handed woman without cognitive impairment suddenly developed nonfluent aphasia. Brain MRI showed acute infarction in the right frontal lobe and insula without involvement of the corpus callosum. A neurological examination demonstrated not only transcortical motor aphasia, but also ideomotor apraxia and right hand predominant constructional apraxia (CA). To date, right hand predominant CA has only been reported in patients with corpus callosum lesions. The right hand predominant CA observed in our patient may be associated with the failure to transfer information on the spatial structure from the right hemisphere to the motor cortex of the left hemisphere.

  9. 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

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

    Science.gov (United States)

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

    2012-01-01

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

  11. 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…

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

    NARCIS (Netherlands)

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

    1999-01-01

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

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

    NARCIS (Netherlands)

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

    1999-01-01

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

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

    NARCIS (Netherlands)

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

    2000-01-01

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

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

    NARCIS (Netherlands)

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

    2000-01-01

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

  16. Cortical thickness in children receiving intensive therapy for idiopathic apraxia of speech.

    Science.gov (United States)

    Kadis, Darren S; Goshulak, Debra; Namasivayam, Aravind; Pukonen, Margit; Kroll, Robert; De Nil, Luc F; Pang, Elizabeth W; Lerch, Jason P

    2014-03-01

    Children with idiopathic apraxia experience difficulties planning the movements necessary for intelligible speech. There is increasing evidence that targeted early interventions, such as Prompts for Restructuring Oral Muscular Phonetic Targets (PROMPT), can be effective in treating these disorders. In this study, we investigate possible cortical thickness correlates of idiopathic apraxia of speech in childhood, and changes associated with participation in an 8-week block of PROMPT therapy. We found that children with idiopathic apraxia (n = 11), aged 3-6 years, had significantly thicker left supramarginal gyri than a group of typically-developing age-matched controls (n = 11), t(20) = 2.84, p ≤ 0.05. Over the course of therapy, the children with apraxia (n = 9) experienced significant thinning of the left posterior superior temporal gyrus (canonical Wernicke's area), t(8) = 2.42, p ≤ 0.05. This is the first study to demonstrate experience-dependent structural plasticity in children receiving therapy for speech sound disorders.

  17. Eyelid apraxia associated with deep brain stimulation of the periaqueductal gray area.

    Science.gov (United States)

    Langevin, Jean-Philippe; Srikandarajah, Nisaharan; Krahl, Scott E; Gorgulho, Alessandra; Behnke, Eric; Malkasian, Dennis; DeSalles, Antonio A F

    2014-09-01

    We report a patient with eyelid apraxia following deep brain stimulation of the periaqueductal gray area. Based on the position of our electrode, we argue that the phenomenon is linked to inhibition of the nearby central caudal nucleus of the oculomotor nucleus by high frequency stimulation.

  18. Articulatory Control in Childhood Apraxia of Speech in a Novel Word-Learning Task

    Science.gov (United States)

    Case, Julie; Grigos, Maria I.

    2016-01-01

    Purpose: Articulatory control and speech production accuracy were examined in children with childhood apraxia of speech (CAS) and typically developing (TD) controls within a novel word-learning task to better understand the influence of planning and programming deficits in the production of unfamiliar words. Method: Participants included 16…

  19. 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.

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

    NARCIS (Netherlands)

    Nijland, Lian

    2003-01-01

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

  1. Developmental apraxia of speech in children : quantitative assessment of speech characteristics

    NARCIS (Netherlands)

    Thoonen, G.H.J.

    1998-01-01

    Developmental apraxia of speech (DAS) in children is a speech disorder, supposed to have a neurological origin, which is commonly considered to result from particular deficits in speech processing (i.e., phonological planning, motor programming). However, the label DAS has often been used as acatch-

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

    NARCIS (Netherlands)

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

    1999-01-01

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

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

    NARCIS (Netherlands)

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

    1999-01-01

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

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

    NARCIS (Netherlands)

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

    2001-01-01

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

  5. [The significance of the study of aphasia, apraxia and agnosia at present time].

    Science.gov (United States)

    Kawamura, M

    1999-12-01

    Neuropsychology initiated by the study of aphasia, apraxia and agnosia had been regarded as one division of psychiatry. This is one of the reasons why neuropsychology is minor territory in neurology. Some people say that neuropsychology seems difficult to understand, not scientific, not useful and is rather a man's taste than a medicine. I try to respond in this paper to these critics by way of analyzing our own cases while insisting on the today's importance of the study of aphasia, apraxia and agnosia. Our personal cases consist of the following three categories. 1) Primary progressive apraxia: proposal of the symptomatic concept suggested by the investigation of our own eight cases and those in the literature. 2) Musical alexia with agraphia in a trombone player: study of the cerebral localization in a person with special ability. 3) Disturbance of reaching proposal of intracerebral pathways in kinesthesia. Therefore it is highly possible that the significance of the study of aphasia, apraxia and agnosia should become enlarged now and after; and it seems urgent to answer its need that younger neurologists participate in this area.

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

    Science.gov (United States)

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

    2009-01-01

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

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

    Science.gov (United States)

    Martikainen, Anna-Leena; Korpilahti, Pirjo

    2011-01-01

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

  9. 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

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

    NARCIS (Netherlands)

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

    2009-01-01

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

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

    NARCIS (Netherlands)

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

    2010-01-01

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

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

    NARCIS (Netherlands)

    Terband, H.; Maassen, B.

    2010-01-01

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

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

    Science.gov (United States)

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

    2016-09-01

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

  14. Conceptual- and production-related predictors of pantomimed tool use deficits in apraxia

    OpenAIRE

    2014-01-01

    Apraxia following left hemisphere stroke disrupts pantomimed tool use (PTU), a task that requires the integrity of a number of cognitive and motor processes. Although previous studies have identified that apraxics have deficits in (1) the integrity of/access to stored tool-use gesture representations, (2) deficits in intrinsic (body-based) coordinate control, and (3) abnormal reliance on visual feedback, no study to date has simultaneously tested the relative contribution of these three defic...

  15. Assistive system for people with Apraxia using a Markov decision process.

    Science.gov (United States)

    Jean-Baptiste, Emilie M D; Russell, Martin; Rothstein, Pia

    2014-01-01

    CogWatch is an assistive system to re-train stroke survivors suffering from Apraxia or Action Disorganization Syndrome (AADS) to complete activities of daily living (ADLs). This paper describes the approach to real-time planning based on a Markov Decision Process (MDP), and demonstrates its ability to improve task's performance via user simulation. The paper concludes with a discussion of the remaining challenges and future enhancements.

  16. 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

  17. Shared neural correlates of limb apraxia in early stages of Alzheimer's dementia and behavioural variant frontotemporal dementia.

    Science.gov (United States)

    Johnen, Andreas; Brandstetter, Lisa; Kärgel, Christian; Wiendl, Heinz; Lohmann, Hubertus; Duning, Thomas

    2016-11-01

    Limb apraxia denotes a cognitive impairment of gesture production. Lesion studies in patients with stroke point towards distinct neural processing streams for limb imitation and object-pantomime within left parietal and temporal cortex, respectively. Despite its frequent occurrence as an early symptom in both, Alzheimer's dementia (AD) and behavioural variant frontotemporal dementia (bvFTD), neural correlates of limb apraxia within these patient groups remain unexplored. Using voxel-based morphometry and multiple regression models, associations between limb apraxia and gray matter (GM) volume were investigated in 36 dementia patients (18 AD, 18 bvFTD) in early disease stages. Both dementia subtypes showed a comparable degree of limb apraxia. Although the patient groups showed distinct atrophy patterns with significantly more severe frontal GM loss in bvFTD, we found similar neural correlates of limb apraxia within posterior brain regions for both dementia subtypes: limb-imitation was associated with bilateral atrophy of superior, inferior and medial parietal cortex. Object-pantomime showed associations with GM volume in right middle temporal and angular gyrus. Our results argue for shared neural correlates of limb apraxia in AD and bvFTD and validate the syndrome as an important neuropsychological feature across different etiologies. Moreover, our results are compatible with neural models derived from patients with stroke, suggesting partly distinct neural representations of imitation and pantomime. Compared to patients with stroke however, AD and bvFTD showed more bilateral or even right lateralized neural representations of limb apraxia, proposing a greater influence of visuospatial impairments and spatial body representation deficits on praxis performance.

  18. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2003-01-01

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

  1. 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

  2. A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

    Science.gov (United States)

    Boutoleau-Bretonnière, Claire; Camuzat, Agnès; Le Ber, Isabelle; Bouya-Ahmed, Kawtar; Guerreiro, Rita; Deruet, Anne-Laure; Evrard, Christelle; Bras, José; Lamy, Estelle; Auffray-Calvier, Elisabeth; Pallardy, Amandine; Hardy, John; Brice, Alexis; Derkinderen, Pascal; Vercelletto, Martine

    2015-01-01

    SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenting with a clinical phenotype of speech apraxia or atypical behavioral disorders, associated with early visuo-contructional deficits. This study further supports the implication of SQSTM1 in frontotemporal dementia, and enlarges the phenotypic spectrum associated with SQSTM1 mutations.

  3. Avaliação da apraxia em nonagenários: dados de um ambulatório de geriatria = Apraxia evaluation in nonagenarian: data from a geriatric outpatient clinic

    Directory of Open Access Journals (Sweden)

    Cecato, Juliana Francisca

    2016-01-01

    Full Text Available Introdução: Apraxia é comumente descrita como um sintoma da doença de Alzheimer (DA. Seu aparecimento em pacientes nonagenários é pouco conhecida. Objetivo: Avaliar e comparar o desempenho de nonagenários portadores de DA e idosos não portadores em subtestes para apraxia. Materiais e Métodos: Foram avaliados 78 indivíduos, com graus variados de escolaridade e com 90 anos ou mais de idade, por meio de Miniexame do Estado Mental (MEEM, Cambridge Cognitive Examination (CAMCOG e o Questionário de Atividades Funcionais de Pfeffer (QAFP. Para analisar a presença de apraxia, foram selecionados oito subitens do CAMCOG: os desenhos do Pentágono, da espiral, da casa, do relógio, e também a tarefa de colocar um pedaço de papel em um envelope; avaliação dos movimentos corretos com uma mão para dar “adeus”, cortar papel com uma tesoura e escovar os dentes. O diagnóstico da DA foi estabelecido de acordo com o National Institute of Neurological and Communicative Disorders and Stroke and The Alzheimer’s disease and Related Disorders Association (NINCDS-ADRDA. Resultados: Encontrou-se para o MEEM média de 18,48 pontos, para o CAMCOG 59,94 pontos e nos subitens Apraxia 8,65 pontos no grupo que recebeu diagnóstico de DA, enquanto que os sem DA (grupo controle apresentou média no MEEM de 26,15 pontos, CAMCOG 82,23 pontos e Apraxia de 9,96 pontos. Estas diferenças são estatisticamente significativas entre os grupos nos testes, respectivamente, p<0,0001, p<0,0001 e p=0,007. Um coeficiente de correlação moderado negativo e significativo pode ser encontrado entre Apraxia e QAFP (r=-0,51; p=0,0003. Conclusão: A presença de apraxia em nonagenários mostrou valores significativamente maiores naqueles portadores de DA em relação aos não portadores

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

    Science.gov (United States)

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

    2007-01-01

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

  5. 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…

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

    Science.gov (United States)

    Jacks, Adam; Haley, Katarina L.

    2015-01-01

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

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

    NARCIS (Netherlands)

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

    2000-01-01

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

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

    NARCIS (Netherlands)

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

    2000-01-01

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

  9. A Letter to the Parent(s) of a Child with Developmental Apraxia of Speech. Part IV: Treatment of DAS.

    Science.gov (United States)

    Hall, Penelope K.

    2000-01-01

    One of a series of letters to parents of children with developmental apraxia of speech (DAS), this letter discusses the treatment of DAS including linguistic approaches, motor-programming approaches, a combination of linguistic and motor-programming approaches, and treatment approaches that include specific sensory and gestural cueing techniques.…

  10. 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…

  11. 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.

  12. [Congenital oculomotor apraxia. 2 cases with an electro-oculography study].

    Science.gov (United States)

    Samson, M; Mihout, B; Proust, B; Parain, D

    1983-01-01

    Congenital oculomotor apraxia is characterized by the inability of the young child to produce horizontal saccades when his head is fixed; two cases are reported. In a free condition this trouble is compensated by thrust head movements allowing the child to lead his gaze to the stimulus or to reach it by successive hypometric jerks released by movement. A blink usually precedes the eye movement probably allowing the child to escape from an excessive fixation. This apraxia is combined with a motor and psychological development delay. The evolution of all the troubles is usually good with minimal sequelaes (difficulty for reading). Without any anatomical argument, it may be assumed that a dysfunction of area 8 and of the fronto-mesencephalic pathway is responsible for this abnormality. The resemblance of this disturbance to an earlier phylogenic period of the oculomotor development (inferior mammalian) and its spontaneous good evolution evoke more a maturation delay of the supranuclear control system of saccades than a true disease.

  13. [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.

  14. 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.

  15. [Anarthria, progressive apraxia and extrapyramidal syndrome: an uncommon clinical form of corticobasal degeneration? A case studied by HMPAO Tc99m single-photon emission tomography].

    Science.gov (United States)

    Fayet, G; Vercelletto, M; Bertout, C; De Kersaint-Gilly, A; Fève, J R

    1995-04-01

    A 48-year-old man presented with impaired joint movement and buccofacial apraxia. The disease progressed for six years associating an akineto-hypertonic syndrome, marked anarthria, saliva incontinence, bi-opercular syndrome, bucco-facial apraxia, severe global gestual apraxia and a frontal syndrom. Oculo-motricity and gait were normal. Magnetic resonance imaging of the brain demonstrated fronto-parietal atrophy and HMPAO Tc99 tomography revealed hypoperfusion of the cortex clearly predominating in the left parietal region. These particular findings with predominantly intense joint involvement is similar to the clinical picture in corticobasal degeneration--subcortical signs (progressively uncontrollable hypertonia) together with cortical signs (severe gestual apraxia). The neuroradiological imaging and functional results also suggest a degenerative process.

  16. Abnormal dynamics of activation of object use information in apraxia: evidence from eyetracking.

    Science.gov (United States)

    Lee, Chia-Iin; Mirman, Daniel; Buxbaum, Laurel J

    2014-07-01

    Action representations associated with object use may be incidentally activated during visual object processing, and the time course of such activations may be influenced by lexical-semantic context (e.g., Lee, Middleton, Mirman, Kalénine, & Buxbaum (2012). Journal of Experimental Psychology: Human Perception and Performance, 39(1), 257-270). In this study we used the "visual world" eye-tracking paradigm to examine whether a deficit in producing skilled object-use actions (apraxia) is associated with abnormalities in incidental activation of action information, and assessed the neuroanatomical substrates of any such deficits. Twenty left hemisphere stroke patients, ten of whom were apraxic, performed a task requiring identification of a named object in a visual display containing manipulation-related and unrelated distractor objects. Manipulation relationships among objects were not relevant to the identification task. Objects were cued with neutral ("S/he saw the…."), or action-relevant ("S/he used the….") sentences. Non-apraxic participants looked at use-related non-target objects significantly more than at unrelated non-target objects when cued both by neutral and action-relevant sentences, indicating that action information is incidentally activated. In contrast, apraxic participants showed delayed activation of manipulation-based action information during object identification when cued by neutral sentences. The magnitude of delayed activation in the neutral sentence condition was reliably predicted by lower scores on a test of gesture production to viewed objects, as well as by lesion loci in the inferior parietal and posterior temporal lobes. However, when cued by a sentence containing an action verb, apraxic participants showed fixation patterns that were statistically indistinguishable from non-apraxic controls. In support of grounded theories of cognition, these results suggest that apraxia and temporal-parietal lesions may be associated with

  17. Intermittent Alien Hand Syndrome and Callosal Apraxia in Multiple Sclerosis: Implications for Interhemispheric Communication

    Science.gov (United States)

    Lunardelli, A.; Sartori, A.; Mengotti, P.; Rumiati, R. I.; Pesavento, V.

    2014-01-01

    We report a case of a 47-year-old woman with 35-year history of multiple sclerosis, who showed alien hand signs, a rare behavioural disorder that involves unilateral goal-directed movements that are contrary to the individual's intention. Alien hand syndrome has been described in multiple sclerosis (MS) only occasionally and is generally suggestive of callosal disconnection. The patient presented also with bilateral limb apraxia and left hand agraphia, raising the possibility of cortical dysfunction or disconnection, in addition to corpus callosum and white matter involvement. Her specific pattern of symptoms supports the role of the corpus callosum in interhemispheric communication for complex as well as fine motor activities and may indicate that it can serve as both an inhibitory and excitatory function depending on task demands. PMID:24803736

  18. 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.

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

    Science.gov (United States)

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

    2015-11-01

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

  20. Limited acquisition and generalisation of rhotics with ultrasound visual feedback in childhood apraxia.

    Science.gov (United States)

    Preston, Jonathan L; Maas, Edwin; Whittle, Jessica; Leece, Megan C; McCabe, Patricia

    2016-01-01

    Ultrasound visual feedback of the tongue is one treatment option for individuals with persisting speech sound errors. This study evaluated children's performance during acquisition and generalisation of American English rhotics using ultrasound feedback. Three children aged 10-13 with persisting speech sound errors associated with childhood apraxia of speech (CAS) were treated for 14 one-hour sessions. Two of the participants increased the accuracy of their rhotic production during practise trials within treatment sessions, but none demonstrated generalisation to untreated words. Lack of generalisation may be due to a failure to acquire the target with sufficient accuracy during treatment, or to co-existing linguistic weaknesses that are not addressed in a motor-based treatment. Results suggest a need to refine the intervention procedures for CAS and/or a need to identify appropriate candidates for intervention to optimise learning.

  1. Intermittent alien hand syndrome and callosal apraxia in multiple sclerosis: implications for interhemispheric communication.

    Science.gov (United States)

    Lunardelli, A; Sartori, A; Mengotti, P; Rumiati, R I; Pesavento, V

    2014-01-01

    We report a case of a 47-year-old woman with 35-year history of multiple sclerosis, who showed alien hand signs, a rare behavioural disorder that involves unilateral goal-directed movements that are contrary to the individual's intention. Alien hand syndrome has been described in multiple sclerosis (MS) only occasionally and is generally suggestive of callosal disconnection. The patient presented also with bilateral limb apraxia and left hand agraphia, raising the possibility of cortical dysfunction or disconnection, in addition to corpus callosum and white matter involvement. Her specific pattern of symptoms supports the role of the corpus callosum in interhemispheric communication for complex as well as fine motor activities and may indicate that it can serve as both an inhibitory and excitatory function depending on task demands.

  2. Retrieval by a patient with apraxia of sensorimotor information from visually presented objects.

    Science.gov (United States)

    Kobayakawa, Mutsutaka; Ohigashi, Yoshitaka

    2007-06-01

    Motor representations are reported to be implicitly evoked when one observes manipulatable objects (action potentiation). The relationship was examined between action potentiation and pantomime deficit in apraxia. Participants responded to line drawings of manipulatable objects with either the left or right hand, according to the color of the stimulus. In normal participants (N= 10, four women, six men, M age = 28.5 yr., SD = 5.6), responses were faster when the orientation of the stimulus was compatible with the response-hand grasp. However, the apraxic patient did not exhibit this compatibility effect. On a control task in which a nonobject (circle) was presented, all participants exhibited the compatibility effect. These results indicated that the apraxic patient was impaired in evoking motor representation associated with objects. Thus, in some cases, apraxic disorders may be attributable to a deficit in retrieving object-specific information for manipulation.

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

    Directory of Open Access Journals (Sweden)

    Jonathan L Preston

    2016-08-01

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

  4. Classification and clinicoradiologic features of primary progressive aphasia (PPA) and apraxia of speech.

    Science.gov (United States)

    Botha, Hugo; Duffy, Joseph R; Whitwell, Jennifer L; Strand, Edythe A; Machulda, Mary M; Schwarz, Christopher G; Reid, Robert I; Spychalla, Anthony J; Senjem, Matthew L; Jones, David T; Lowe, Val; Jack, Clifford R; Josephs, Keith A

    2015-08-01

    The consensus criteria for the diagnosis and classification of primary progressive aphasia (PPA) have served as an important tool in studying this group of disorders. However, a large proportion of patients remain unclassifiable whilst others simultaneously meet criteria for multiple subtypes. We prospectively evaluated a large cohort of patients with degenerative aphasia and/or apraxia of speech using multidisciplinary clinical assessments and multimodal imaging. Blinded diagnoses were made using operational definitions with important differences compared to the consensus criteria. Of the 130 included patients, 40 were diagnosed with progressive apraxia of speech (PAOS), 12 with progressive agrammatic aphasia, 9 with semantic dementia, 52 with logopenic progressive aphasia, and 4 with progressive fluent aphasia, while 13 were unclassified. The PAOS and progressive fluent aphasia groups were least impaired. Performance on repetition and sentence comprehension was especially poor in the logopenic group. The semantic and progressive fluent aphasia groups had prominent anomia, but only semantic subjects had loss of word meaning and object knowledge. Distinct patterns of grey matter loss and white matter changes were found in all groups compared to controls. PAOS subjects had bilateral frontal grey matter loss, including the premotor and supplementary motor areas, and bilateral frontal white matter involvement. The agrammatic group had more widespread, predominantly left sided grey matter loss and white matter abnormalities. Semantic subjects had bitemporal grey matter loss and white matter changes, including the uncinate and inferior occipitofrontal fasciculi, whereas progressive fluent subjects only had left sided temporal involvement. Logopenic subjects had diffuse and bilateral grey matter loss and diffusion tensor abnormalities, maximal in the posterior temporal region. A diagnosis of logopenic aphasia was strongly associated with being amyloid positive (46

  5. The effect of goals and vision on movements: a case study of optic ataxia and limb apraxia.

    Science.gov (United States)

    Ambron, Elisabetta; Lingnau, Angelika; Lunardelli, Alberta; Pesavento, Valentina; Rumiati, Raffaella I

    2015-04-01

    Normally we can perform a variety of goal-directed movements effortlessly. However, damage to the parietal cortex may dramatically reduce this ability, giving rise to optic ataxia and limb apraxia. Patients with optic ataxia show clear misreaches towards targets when presented in the peripheral visual field, whereas limb apraxia refers to the inability to use common tools or to imitate simple gestures. In the present paper we describe the case of a left-brain damaged patient, who presented both symptoms. We systematically investigated both spatial and temporal parameters of his movements, when asked to reach and grasp common objects to move (Experiment 1) or to use them (Experiment 2), presented either in the central or peripheral visual field. Different movement parameters changed in relation to the goal of the task (grasp to move vs. grasp to use), reflecting a normal modulation of the movement to accomplish tasks with different goals. On the other hand, grip aperture appeared to be more affected from both task goal and viewing condition, with a specific decrement observed when CF was asked to use objects presented peripherally. On the contrary, a neat effect of the viewing condition was observed in the spatial distribution of the end-points of the movements, and of the horizontal end point in particular, which were shifted towards the fixation point when reaching towards peripheral targets. We hypothesized that optic ataxia and limb apraxia have a differential effect on the patient's performance. The specific presence of optic ataxia would have an effect on the movement trajectory, but both symptoms might interact and influence the grasping component of the movement. As a 'cognitive side of motor control impairment', the presence of limb apraxia may have increased the task demands in grasping to use the objects thus exacerbating optic ataxia.

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

    Directory of Open Access Journals (Sweden)

    Maysa Luchesi Cera

    2011-09-01

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

  7. Oculomotor Apraxia

    Science.gov (United States)

    ... hypoplasia, porencephalic cyst, megalocephaly, Krabbe’s leucodystrophy, Pelizaeus Merzbacher disease, Infantile Gaucher disease, GM1 gangliosidosis, Infantile Refsum’s disease, propionic acidemia., ...

  8. 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

  9. [A neuropsychological and functional brain imaging study of visuo-imitative apraxia].

    Science.gov (United States)

    Peigneux, P; Van Der Linden, M; Andres-Benito, P; Sadzot, B; Franck, G; Salmon, E

    2000-05-01

    We describe the case of a 58-years-old right-handed women suffering from an occipital-parietal lesion. The administration of a cognitively based assessment tool for limb praxis (Batterie d'Evaluation des Praxies, B.E.P., Peigneux and Van der Linden, 1998) demonstrated bilateral visuo-imitative apraxia. Gesture production was mainly characterised by spatial, errors, and imitation of meaningful gestures was worse than their pantomime on verbal command. Moreover, the imitation of meaningless gestures and their reproduction on a manikin were worse than imitation of their matched meaningful gestures. In a cognitive perspective, adapted from the Rothi et al. (1997) and Goldenberg (1995) contributions to our understanding of limb praxis, this configuration of performance suggests deficits occurring at multiple levels. On one hand, it suggests either access difficulties or alteration of the output praxicon, i.e., the lexicon for visuo-kinesthetic engrams of meaningful gestures. On the other hand, the simultaneous deficit for meaningless gesture reproduction on the subject's own body and on a manikin favors an alteration of the structural descriptions of the human body (i.e., human body knowledge), underlying the mental transposition processes occurring between the visual analysis of a meaningless gestural configuration and its effective reproduction on oneself or on a manikin, thus contradicting the classic view of a direct pathway linking visual analysis and motor planning in meaningless gesture imitation. Finally, due to the output praxicon deficit, imitation of meaningful gestures is partly processed in the same way as meaningless gestures (also impaired in this case), leading to an interference effect between both degraded memory-based and visually-transposed traces, which account for imitation of meaningful gestures being worse than their pantomime on verbal command. We also assess regional cerebral metabolism using positron emission tomography (PET). Comparison with

  10. 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

  11. 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.

  12. 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.

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

    Science.gov (United States)

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

    2013-09-01

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

  14. Treatment for apraxia of speech in nonfluent variant primary progressive aphasia.

    Science.gov (United States)

    Henry, M L; Meese, M V; Truong, S; Babiak, M C; Miller, B L; Gorno-Tempini, M L

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    M. L. Henry

    2013-01-01

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

  16. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

    Science.gov (United States)

    Bras, Jose; Alonso, Isabel; Barbot, Clara; Costa, Maria Manuela; Darwent, Lee; Orme, Tatiana; Sequeiros, Jorge; Hardy, John; Coutinho, Paula; Guerreiro, Rita

    2015-03-05

    Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3'-phosphatase) mutation, c.1123G>T (p.Gly375Trp), in three of the studied families. When analyzing this particular gene in the exome sequencing data from the remaining cohort, we identified homozygous or compound-heterozygous mutations in five other families. PNKP is a dual-function enzyme with a key role in different pathways of DNA-damage repair. Mutations in this gene have previously been associated with an autosomal-recessive syndrome characterized by microcephaly; early-onset, intractable seizures; and developmental delay (MCSZ). The finding of PNKP mutations associated with recessive AOA extends the phenotype associated with this gene and identifies a fourth locus that causes AOA. These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms.

  17. Conceptual- and production-related predictors of pantomimed tool use deficits in apraxia.

    Science.gov (United States)

    Jax, S A; Rosa-Leyra, D L; Buxbaum, L J

    2014-09-01

    Apraxia following left hemisphere stroke disrupts pantomimed tool use (PTU), a task that requires the integrity of a number of cognitive and motor processes. Although previous studies have identified that apraxics have deficits in (1) the integrity of/access to stored tool-use gesture representations, (2) deficits in intrinsic (body-based) coordinate control, and (3) abnormal reliance on visual feedback, no study to date has simultaneously tested the relative contribution of these three deficits to poor PTU performance. In this study we assessed 38 chronic left hemisphere stroke survivors on tests of PTU and the 3 component processes. We then attempted to predict PTU with the component scores using hierarchical regression to control for overall stroke severity and the possibility of correlated component scores. Results showed that over half of the variability in PTU was predictable, with the strongest independent predictor being a test of intrinsic coordinate control without visual feedback. A test of the integrity of/access to stored representations also predicted PTU. These results confirm and extend previous claims that conceptual- and production-related factors affect PTU, even after considering that deficits in both factors are commonly observed to varying degrees in apraxic patients.

  18. Anosognosia for apraxia: experimental evidence for defective awareness of one's own bucco-facial gestures.

    Science.gov (United States)

    Canzano, Loredana; Scandola, Michele; Pernigo, Simone; Aglioti, Salvatore Maria; Moro, Valentina

    2014-12-01

    Anosognosia is a multifaceted, neuro-psychiatric syndrome characterized by defective awareness of a variety of perceptuo-motor, cognitive or emotional deficits. The syndrome is also characterized by modularity, i.e., deficits of awareness in one domain (e.g., spatial perception) co-existing with spared functions in another domain (e.g., memory). Anosognosia has mainly been reported after right hemisphere lesions. It is however somewhat surprising that no studies have thus far specifically explored the possibility that lack of awareness involves apraxia, i.e., a deficit in the ability to perform gestures caused by an impaired higher-order motor control and not by low-level motor deficits, sensory loss, or failure to comprehend simple commands. We explored this issue by testing fifteen patients with vascular lesions who were assigned to one of three groups depending on their neuropsychological profile and brain lesion. The patients were asked to execute various actions involving the upper limb or bucco-facial body parts. In addition they were also asked to judge the accuracy of these actions, either performed by them or by other individuals. The judgment of the patients was compared to that of two external observers. Results show that our bucco-facial apraxic patients manifest a specific deficit in detecting their own gestural errors. Moreover they were less aware of their defective performance in bucco-facial as compared to limb actions. Our results hint at the existence of a new form of anosognosia specifically involving apraxic deficits.

  19. Phonological simplifications, apraxia of speech and the interaction between phonological and phonetic processing.

    Science.gov (United States)

    Galluzzi, Claudia; Bureca, Ivana; Guariglia, Cecilia; Romani, Cristina

    2015-05-01

    Research on aphasia has struggled to identify apraxia of speech (AoS) as an independent deficit affecting a processing level separate from phonological assembly and motor implementation. This is because AoS is characterized by both phonological and phonetic errors and, therefore, can be interpreted as a combination of deficits at the phonological and the motoric level rather than as an independent impairment. We apply novel psycholinguistic analyses to the perceptually phonological errors made by 24 Italian aphasic patients. We show that only patients with relative high rate (>10%) of phonetic errors make sound errors which simplify the phonology of the target. Moreover, simplifications are strongly associated with other variables indicative of articulatory difficulties - such as a predominance of errors on consonants rather than vowels - but not with other measures - such as rate of words reproduced correctly or rates of lexical errors. These results indicate that sound errors cannot arise at a single phonological level because they are different in different patients. Instead, different patterns: (1) provide evidence for separate impairments and the existence of a level of articulatory planning/programming intermediate between phonological selection and motor implementation; (2) validate AoS as an independent impairment at this level, characterized by phonetic errors and phonological simplifications; (3) support the claim that linguistic principles of complexity have an articulatory basis since they only apply in patients with associated articulatory difficulties.

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

    Science.gov (United States)

    Aichert, Ingrid; Späth, Mona; Ziegler, Wolfram

    2016-02-01

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

  1. 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.

  2. Constructional apraxia as a distinctive cognitive and structural brain feature of pre-senile Alzheimer's disease.

    Science.gov (United States)

    Serra, Laura; Fadda, Lucia; Perri, Roberta; Spanò, Barbara; Marra, Camillo; Castelli, Diana; Torso, Mario; Makovac, Elena; Cercignani, Mara; Caltagirone, Carlo; Bozzali, Marco

    2014-01-01

    Constructional apraxia (CA) is often, but not always, observed in patients with Alzheimer's disease (AD). CA is usually explained by impairment of either basic perceptual and motor abilities, or executive functions. This study aims to evaluate the structural correlates of CA in AD. Forty-eight patients with AD and 20 healthy age-matched controls underwent a thorough neuropsychological investigation and an MRI scan to collect high-resolution T1-weighted data. Patients were classified as having (ADca) or not having (ADnonca) CA based on performance on the Freehand copying of drawings task. T1-weighted volumes were process according to the voxel based morphometry protocol, to assess the presence of significant differences in local to grey matter volumes in patients compared to controls and in ADca compared to ADnonca. Post-hoc, the mean grey matter volume of clusters that resulted significantly different between groups was regressed against the neuropsychological scores in which the two patient groups performed differently. A pre-senile disease onset was significantly more frequent in patients with CA compared to ADnonca. ADca patients also showed worse performances than patients with ADnonca at some tests requiring the processing of visuo-spatial data and testing working memory. They also showed widespread reductions in grey matter volume, mainly located in areas known to be implicated in object recognition and localization, and in maintenance and re-orienting of spatial attention. These findings suggest that the occurrence of CA in AD is often associated with a peculiar clinical onset (i.e., pre-senile), neuropsychological profile, and distribution of grey matter atrophy.

  3. Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

    Science.gov (United States)

    Poretti, Andrea; Häusler, Martin; von Moers, Arpad; Baumgartner, Bastian; Zerres, Klaus; Klein, Andrea; Aiello, Chiara; Moro, Francesca; Zanni, Ginevra; Santorelli, Filippo M; Huisman, Thierry A G M; Weis, Joachim; Valente, Enza Maria; Bertini, Enrico; Boltshauser, Eugen

    2014-02-01

    Cerebellar cysts are rare findings in pediatric neuroimaging and rather characteristic for dystroglycanopathies and GPR56-related encephalopathy. We aim to report on seven children with cerebellar cysts showing absence of weakness and ruling out mutations within eight dystroglycanopathy genes and GPR56. Data about neurological and ophthalmological features, outcome, and creatine kinase values were collected from clinical histories and follow-up examinations. All MR images were qualitatively evaluated for infra- and supratentorial abnormalities. A SNP 6.0-Array was performed in three children. The POMT1, POMT2, POMGnT1, FKRP, FKTN, LARGE, ISPD, B3GALNT2, and GPR56 genes were screened in all patients by Sanger sequencing. Seven children from five families were studied. Ataxia, intellectual disability, and language impairment were found in all patients, ocular motor apraxia in five, and severe myopia in three. None of the patients had weakness, only three a minimally increased creatine kinase value. Qualitative neuroimaging evaluation showed cerebellar cysts and dysplasia in the cerebellar hemispheres and vermis in all children. Additional findings were an enlarged fourth ventricle in all children, vermian hypoplasia and brain stem morphological abnormalities in five. The SNP array showed no pathogenetic imbalances in all children evaluated. In all patients, no mutations were found in POMT1, POMT2, POMGnT1, FKRP, FKTN, LARGE, ISPD, B3GALNT2, and GPR56. The peculiar combination of the same clinical and neuroimaging findings in our patients highly suggests that this phenotype may represent a novel entity, possibly falling within the spectrum of dystroglycanopathies.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  6. The role of movement representation in episodic memory for actions: A study of patients with apraxia.

    Science.gov (United States)

    Masumoto, Kouhei; Shirakawa, Masayuki; Higashiyama, Takeshi; Yokoyama, Kazumasa

    2015-01-01

    In attempting to memorize a sentence about an action, such as "Pick up the glass," performing the action (motor encoding) results in better memory performance than simply memorizing the words (verbal encoding). Such enhancement of memory is known as the enactment effect. Several theories have been proposed to explain this phenomenon using concepts such as physical motor information associated with speed, form, amplitude of movement and/or movement representations involved in movement imaging, knowledge on manipulating tools, and spatial relationships in the enactment effect. However, there have been no cognitive neuropsychological studies investigating whether the enactment effect is crucially influenced by physical motor information or movement representations. To clarify this issue, we compared healthy adult control participants with two different types of apraxia patients. One patient with left hemisphere lesions caused by cerebral infarction had a disability involving multiple movement representations. The other patient showed symptoms of corticobasal syndrome and was not able to benefit from feedback on the accuracy of her motor movements during enactment. Participants memorized action sentences via either verbal or motor encoding and responded to recall and recognition tests. Results indicated that the patient with the movement representation deficits exhibited worse memory performance than the other patient or control participants following both verbal and motor encoding. Although the enactment effect was present during recall in both patients, the effect was not observed for recognition in the patient with severe movement representation deficits. These results suggest that movement representations are involved in encoding episodic memories of action. Moreover, the role of movement representations appears to depend on the form of retrieval that is being used.

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    Jennifer L. Whitwell

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2012-01-01

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

  11. Moving Up from the Segment: A Comment on Aichert and Ziegler's Syllable Frequency and Syllable Structure in Apraxia of Speech, "Brain and Language," 88, 148-159, 2004

    Science.gov (United States)

    Varley, Rosemary; Whiteside, Sandra; Windsor, Fay; Fisher, Helen

    2006-01-01

    In a recent article, Aichert and Ziegler (2004) explore whether apraxia of speech (AOS) can be explained by disruption of the phonetic plans for high frequency syllables. This approach is a hybrid one, combining the notion of a mental syllabary with an explanation that the impairment in AOS results from reduced access to supra-segmental phonetic…

  12. 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…

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

    Science.gov (United States)

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

    2015-03-01

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

  14. Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.

    Science.gov (United States)

    Floris, Gianluca; Borghero, Giuseppe; Cannas, Antonino; Di Stefano, Francesca; Ruiu, Elisa; Murru, Maria R; Corongiu, Daniela; Cuccu, Stefania; Tranquilli, Stefania; Sardu, Claudia; Marrosu, Maria G; Chiò, Adriano; Marrosu, Francesco

    2015-03-01

    In our study we analysed clinical and neuropsychological data in a cohort of 57 Sardinian patients with FTD (55 apparently unrelated and two belonging to the same family), who underwent genetic screening for the C9orf72 mutation. Eight out of 56 patients were found positive for the C9orf72 mutation representing 14% of the entire cohort and 31.6% of the familial cases (6/19). C9orf72 mutated patients differed from the other FTD cases of the cohort for a younger age of onset, higher frequency of familial history for FTD and higher prevalence of delusional psychotic symptoms and hallucinations. In the neuropsychological assessment, C9orf72 mutated patients differed from non-mutated for the high frequency of visuospatial dysfunction regarding constructional apraxia (p = 0.02). In conclusion, our study confirms that Sardinian FTD patients have peculiar genetic characteristics and that C9orf72 mutated patients have a distinctive clinical and neuropsychological profile that could help differentiate them from other FTD patients. In our cohort we found that constructional apraxia, rarely reported in FTD, can properly discriminate between C9orf72 mutated and non-mutated patients and contribute to broaden the neuropsychological profile in frontotemporal dementia associated with this mutation.

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

    Directory of Open Access Journals (Sweden)

    Torres Aguilar, Maydane

    2008-09-01

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

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

    LENUS (Irish Health Repository)

    Anheim, M

    2009-10-01

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

  17. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.

    Science.gov (United States)

    Al Tassan, Nada; Khalil, Dania; Shinwari, Jameela; Al Sharif, Latifa; Bavi, Prashant; Abduljaleel, Zainularifeen; Abu Dhaim, Nada; Magrashi, Amna; Bobis, Steve; Ahmed, Hala; Alahmed, Samaher; Bohlega, Saeed

    2012-02-01

    Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy. Molecular characterization of this group of disorders identified a number of genes contributing to these overlapping phenotypes. Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive form of ataxia caused by mutations in the SETX gene. We report on a consanguineous family with autosomal recessive inheritance and clinical characteristics of AOA2, and no mutations in the SETX gene. We mapped the AOA locus in this family to chromosome 17p12-p13. Sequencing of all genes in the refined region identified a homozygous missense mutation in PIK3R5 that was absent in 477 normal controls. Our characterization of the PIK3R5 protein and findings suggest that it may play a role in the development of the cerebellum and vermis.

  18. The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment.

    Science.gov (United States)

    Centanni, T M; Sanmann, J N; Green, J R; Iuzzini-Seigel, J; Bartlett, C; Sanger, W G; Hogan, T P

    2015-10-01

    Childhood apraxia of speech (CAS) is a debilitating pediatric speech disorder characterized by varying symptom profiles, comorbid deficits, and limited response to intervention. Specific Language Impairment (SLI) is an inherited pediatric language disorder characterized by delayed and/or disordered oral language skills including impaired semantics, syntax, and discourse. To date, the genes associated with CAS and SLI are not fully characterized. In the current study, we evaluated behavioral and genetic profiles of seven children with CAS and eight children with SLI, while ensuring all children were free of comorbid impairments. Deletions within CNTNAP2 were found in two children with CAS but not in any of the children with SLI. These children exhibited average to high performance on language and word reading assessments in spite of poor articulation scores. These findings suggest that genetic variation within CNTNAP2 may be related to speech production deficits.

  19. Defective DNA Ligation during Short-Patch Single-Strand Break Repair in Ataxia Oculomotor Apraxia 1 ▿

    Science.gov (United States)

    Reynolds, John J.; El-Khamisy, Sherif F.; Katyal, Sachin; Clements, Paula; McKinnon, Peter J.; Caldecott, Keith W.

    2009-01-01

    Ataxia oculomotor apraxia 1 (AOA1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP from 5′ termini. Despite this, global rates of chromosomal strand break repair are normal in a variety of AOA1 and other aprataxin-defective cells. Here we show that short-patch single-strand break repair (SSBR) in AOA1 cell extracts bypasses the point of aprataxin action at oxidative breaks and stalls at the final step of DNA ligation, resulting in the accumulation of adenylated DNA nicks. Strikingly, this defect results from insufficient levels of nonadenylated DNA ligase, and short-patch SSBR can be restored in AOA1 extracts, independently of aprataxin, by the addition of recombinant DNA ligase. Since adenylated nicks are substrates for long-patch SSBR, we reasoned that this pathway might in part explain the apparent absence of a chromosomal SSBR defect in aprataxin-defective cells. Indeed, whereas chemical inhibition of long-patch repair did not affect SSBR rates in wild-type mouse neural astrocytes, it uncovered a significant defect in Aptx−/− neural astrocytes. These data demonstrate that aprataxin participates in chromosomal SSBR in vivo and suggest that short-patch SSBR arrests in AOA1 because of insufficient nonadenylated DNA ligase. PMID:19103743

  20. 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.

  1. Limb-kinetic apraxia due to injury of corticofugal tracts from secondary motor area in patients with corona radiata infarct.

    Science.gov (United States)

    Jang, Sung Ho; Seo, Jeong Pyo

    2016-12-01

    Limb-kinetic apraxia (LKA) is defined as an execution disorder of movements, resulting from injury of the corticofugal tract (CFT) from the secondary motor area. Diagnosis of LKA is difficult because it is made by clinical observation of movements. In this study, using diffusion tensor tractography (DTT), we attempted to investigate injury of the CFT from the secondary motor area in patients with corona radiata infarct. Twenty patients with corona radiata infarct were recruited. A probabilistic tractography method was used in fiber tracking for reconstruction of the corticospinal tract (CST) and CFT. Fractional anisotropy (FA), mean diffusivity, and tract volume of the CSTs and CFTs from the dorsal premotor cortex (dPMC) and supplementary motor area (SMA) were measured. In the affected hemisphere, FA values of the CST from the precentral hand knob and the CFT from the dPMC were significantly decreased compared with those of the unaffected hemisphere (p corona radiata infarct, using DTT. Our results suggest that LKA ascribed to injury of the CFTs from the secondary motor area could be accompanied by injury of the CST ascribed to the corona radiata infarct.

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

    Science.gov (United States)

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

    2015-01-16

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

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

    Directory of Open Access Journals (Sweden)

    Abdul Qayyum Rana

    2013-01-01

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

  4. 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.

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

    Science.gov (United States)

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

    2016-05-01

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

  6. Motor Speech Apraxia in a 70-Year-Old Man with Left Dorsolateral Frontal Arachnoid Cyst: A [18F]FDG PET-CT Study

    Directory of Open Access Journals (Sweden)

    Nicolaas I. Bohnen

    2016-01-01

    Full Text Available Motor speech apraxia is a speech disorder of impaired syllable sequencing which, when seen with advancing age, is suggestive of a neurodegenerative process affecting cortical structures in the left frontal lobe. Arachnoid cysts can be associated with neurologic symptoms due to compression of underlying brain structures though indications for surgical intervention are unclear. We present the case of a 70-year-old man who presented with a two-year history of speech changes along with decreased initiation and talkativeness, shorter utterances, and dysnomia. [18F]Fluorodeoxyglucose (FDG Positron Emission and Computed Tomography (PET-CT and magnetic resonance imaging (MRI showed very focal left frontal cortical hypometabolism immediately adjacent to an arachnoid cyst but no specific evidence of a neurodegenerative process.

  7. Simultaneous natural speech and AAC interventions for children with childhood apraxia of speech: lessons from a speech-language pathologist focus group.

    Science.gov (United States)

    Oommen, Elizabeth R; McCarthy, John W

    2015-03-01

    In childhood apraxia of speech (CAS), children exhibit varying levels of speech intelligibility depending on the nature of errors in articulation and prosody. Augmentative and alternative communication (AAC) strategies are beneficial, and commonly adopted with children with CAS. This study focused on the decision-making process and strategies adopted by speech-language pathologists (SLPs) when simultaneously implementing interventions that focused on natural speech and AAC. Eight SLPs, with significant clinical experience in CAS and AAC interventions, participated in an online focus group. Thematic analysis revealed eight themes: key decision-making factors; treatment history and rationale; benefits; challenges; therapy strategies and activities; collaboration with team members; recommendations; and other comments. Results are discussed along with clinical implications and directions for future research.

  8. Motor Speech Apraxia in a 70-Year-Old Man with Left Dorsolateral Frontal Arachnoid Cyst: A [18F]FDG PET-CT Study

    Science.gov (United States)

    Haugen, Jacob; Kluin, Karen; Kotagal, Vikas

    2016-01-01

    Motor speech apraxia is a speech disorder of impaired syllable sequencing which, when seen with advancing age, is suggestive of a neurodegenerative process affecting cortical structures in the left frontal lobe. Arachnoid cysts can be associated with neurologic symptoms due to compression of underlying brain structures though indications for surgical intervention are unclear. We present the case of a 70-year-old man who presented with a two-year history of speech changes along with decreased initiation and talkativeness, shorter utterances, and dysnomia. [18F]Fluorodeoxyglucose (FDG) Positron Emission and Computed Tomography (PET-CT) and magnetic resonance imaging (MRI) showed very focal left frontal cortical hypometabolism immediately adjacent to an arachnoid cyst but no specific evidence of a neurodegenerative process. PMID:28003922

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

    Science.gov (United States)

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

    2013-03-01

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

  10. Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5.

    Science.gov (United States)

    Abraham, Suzanne S; Taragin, Ben; Djukic, Alesandra

    2015-04-01

    We do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and distinguishing features of dysphagia in post-regression early Pseudostationary Stage III. In-depth analysis of videofluoroscopic swallowing studies (VFSS) found dysmotility of oral stage events across subjects implicating oral apraxia. Impaired motility was further compromised by recurrent dystonic and dyskinetic movements that co-occurred with oral apraxia during oral ingestion in 78 % (n = 18) of the subjects with RTT. Of this group, 44 % displayed rocking and/or rolling lingual pattern, 56 % had recurrent oral tongue retroflexions, and/or elevated posturing of the tongue tip, and, 72 % displayed multi-wave oropharyngeal transfer pattern. The proportion of subjects whose swallowing motility was disrupted by aberrant involuntary tongue movements did not differ significantly between bolus types (liquid, puree, and solid) trialed. Liquid ingestion was significantly more efficient in subjects using bottles with nipples than their counterparts who used spouted or straw cups. Dystonic and dyskinetic tongue movements disrupted liquid ingestion in subjects using cups with spouts or straws significantly more than those using bottles. Analysis of food ingestion revealed that significantly more subjects were able to orally form, transport, and transfer a puree bolus into the pharynx than they were a solid bolus. A significantly larger number of subjects aspirated and penetrated liquid than they did puree or solid. No significant relationship was found between subjects with airway contamination and those with dystonic and dyskinetic tongue movements. Subjects' rocking and rolling lingual patterns were consistent with those evidenced in adults with Parkinson's disease. Subjects' tongue retroflexions were classified as provisionally

  11. Apraxia of Speech

    Science.gov (United States)

    ... spoken information; problems with reading, writing, spelling, or math; coordination or “motor-skill” problems; and chewing and ... 08/2016 ) More News Have a question? Information specialists can answer your questions in English or Spanish. ...

  12. Aphasia vs. Apraxia

    Science.gov (United States)

    ... Simple Techniques Can Help Memory after a Stroke Self-Esteem after Stroke Cognitive Challenges After Stroke Depression Trumps ... Talking Tough? Constraint Induced Language Therapy for Aphasia Actions Speak as Loud as Words Computers & Language Rehab ...

  13. 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

  14. 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.

  15. 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.

  16. Genetics Home Reference: ataxia with oculomotor apraxia

    Science.gov (United States)

    ... high amounts of a protein called alpha-fetoprotein (AFP) in their blood. (An increase in the level ... tissue. The effect of abnormally high levels of AFP or CPK in people with ataxia with oculomotor ...

  17. Apraxia, pantomime and the parietal cortex

    Directory of Open Access Journals (Sweden)

    E. Niessen

    2014-01-01

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

  18. Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach

    Directory of Open Access Journals (Sweden)

    Simona Fiori

    2016-01-01

    These findings provide evidence of structural connectivity anomalies in children with CAS across specific brain regions involved in speech/language function. We propose altered connectivity as a possible epiphenomenon of complex pathogenic mechanisms in CAS which need further investigation.

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

    Science.gov (United States)

    Ahlsen, Elisabeth

    2008-01-01

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

  20. 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…

  1. 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.

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

    Science.gov (United States)

    Iuzzini, Jenya; Forrest, Karen

    2010-01-01

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

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

    Science.gov (United States)

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

    2016-04-25

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

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

    OpenAIRE

    2013-01-01

    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. (19...

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

    Science.gov (United States)

    Staiger, Anja; Ruttenauer, Anna; Ziegler, Wolfram

    2010-01-01

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

  6. 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

  7. 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

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

    Directory of Open Access Journals (Sweden)

    Fariba Yadegari

    2014-06-01

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

  9. Inter- and intrahemispheric dissociations in ideomotor apraxia: a large-scale lesion-symptom mapping study in subacute brain-damaged patients.

    Science.gov (United States)

    Manuel, Aurelie L; Radman, Narges; Mesot, Delphine; Chouiter, Leila; Clarke, Stephanie; Annoni, Jean-Marie; Spierer, Lucas

    2013-12-01

    Pantomimes of object use require accurate representations of movements and a selection of the most task-relevant gestures. Prominent models of praxis, corroborated by functional neuroimaging studies, predict a critical role for left parietal cortices in pantomime and advance that these areas store representations of tool use. In contrast, lesion data points to the involvement of left inferior frontal areas, suggesting that defective selection of movement features is the cause of pantomime errors. We conducted a large-scale voxel-based lesion-symptom mapping analyses with configural/spatial (CS) and body-part-as-object (BPO) pantomime errors of 150 left and right brain-damaged patients. Our results confirm the left hemisphere dominance in pantomime. Both types of error were associated with damage to left inferior frontal regions in tumor and stroke patients. While CS pantomime errors were associated with left temporoparietal lesions in both stroke and tumor patients, these errors appeared less associated with parietal areas in stroke than in tumor patients and less associated with temporal in tumor than stroke patients. BPO errors were associated with left inferior frontal lesions in both tumor and stroke patients. Collectively, our results reveal a left intrahemispheric dissociation for various aspects of pantomime, but with an unspecific role for inferior frontal regions.

  10. 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…

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

    Science.gov (United States)

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

    2014-09-01

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

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

    Directory of Open Access Journals (Sweden)

    J. P. Lejeune

    1993-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    谭红; 张智博

    2001-01-01

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

  14. Research on Speech Motor Control and Its Disorders: A Review and Prospective.

    Science.gov (United States)

    Kent, Ray D.

    2000-01-01

    This article reviews issues in speech motor control and a class of communication disorders known as motor speech disorders that include dysarthrias, apraxia of speech, developmental apraxia of speech, developmental stuttering, acquired (neurogenic and psychogenic) stuttering, and cluttering. Assessment, classification, and treatment of these…

  15. 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.

  16. Neurogenic Stuttering

    Science.gov (United States)

    ... a Difference (PDF) Brief History About The Founder Corporate Directors Audit The Facts FAQ Basic Research Resources ... to those seen in other fluency disorders. Some communication disorders such as dysarthria, apraxia of speech, palilalia, ...

  17. A Supranuclear Disorder of Ocular Motility as a Rare Initial Presentation of Motor Neurone Disease.

    Science.gov (United States)

    Yu-Wai-Man, C; Petheram, K; Davidson, A W; Williams, T; Griffiths, P G

    2011-01-01

    A case is described of motor neurone disease presenting with an ocular motor disorder characterised by saccadic intrusions, impaired horizontal and vertical saccades, and apraxia of eyelid opening. The occurrence of eye movement abnormalities in motor neurone disease is discussed.

  18. The Effect of Additional Tactile Stimulation in a Perceptual-Motor Treatment Program for School Children

    Science.gov (United States)

    McKibbin, Elsie H.

    1973-01-01

    The purpose of this study is to explore the value of a perceptual-motor program using predominantly gross motor activities for children with developmental apraxia and deficits in tactile perception. (Author)

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

    Institute of Scientific and Technical Information of China (English)

    谭红; 张智博

    2002-01-01

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

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

    Directory of Open Access Journals (Sweden)

    M. Fujimori

    1994-01-01

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

  1. 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.

  2. Cerebralt aspergillom hos patient med immundefekt og follikulært lymfom

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  3. 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…

  4. 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...

  5. Progressive apraxic agraphia with micrographia presenting as corticobasal syndrome showing extensive Pittsburgh compound B uptake.

    Science.gov (United States)

    Sakurai, Yasuhisa; Ishii, Kenji; Sonoo, Masahiro; Saito, Yuko; Murayama, Shigeo; Iwata, Atsushi; Hamada, Kensuke; Sugimoto, Izumi; Tsuji, Shoji; Mannen, Toru

    2013-08-01

    A 65-year-old woman developed progressive apraxic agraphia, characterized by poorly formed graphemes, a kanji (Japanese morphograms) recall impairment, relatively preserved oral spelling of kanji characters, and incorrect stroke sequences on writing accompanied by micrographia over a 3-year period. She also showed minor degrees of rigidity, limb-kinetic apraxia, and ideomotor apraxia of the left hand. Although asymmetric rigidity and limb-kinetic apraxia strongly suggested corticobasal degeneration, (11)C-Pittsburgh compound B positron emission tomography (PiB-PET) showed the predominantly right-sided accumulation of amyloid β in the cortices and striatum. (18)F-fluoro-deoxy-glucose PET and single photon emission computed tomography with a (99m)Tc-ethylcysteinate dimer (ECD-SPECT) also revealed predominantly right-sided hypometabolism and hypoperfusion in the primary sensorimotor cortex, posterior cingulate gyrus, temporoparietal cortices, frontal cortices, thalamus, and basal ganglia, a pattern characteristic of both corticobasal degeneration and Alzheimer's disease. The findings suggest that progressive apraxic agraphia with micrographia presenting as corticobasal syndrome can show an Alzheimer's disease pathology. It is also suggested that ideomotor apraxia of the left hand can occur without a callosal lesion, and is caused by hypometabolism or hypoperfusion in the right frontal and parietal cortices, as revealed by PET and SPECT.

  6. [Aphasia and related impairments pertaining to FTLD].

    Science.gov (United States)

    Otsuki, Mika

    2012-01-01

    FTLD consists of three clinical types: behavioural variant FTD, progressive non-fluent aphasia (PNFA) and semantic dementia (SD). The latter two types manifest aphasia. Thus, it is quite important to pertinently assess the symptoms of aphasia and related impairments for diagnosis of FTLD. The most important point for diagnosis of PNFA is existence of anarthria/apraxia of speech, which is a focal symptom of the left prefrontal gyrus and underlying white matter. With the progression of the disease word generation and comprehension is deteriorating. SD shows Gogi aphasia when the lesion have predilection of left temporal lober atrophy. We investigated 28 patients without any antecedents causing speech/language impairments, who developed primary progressive aphasia. All the patients underwent a routine neurological and neuropsychological examinations and related symptoms such as orofacial apraxia, frontal lobe signs, dysphasia and so on were assessed. The results indicated that 20 patients were diagnosed as PNFA, and they were subdivided into three clinical groups. One group developed naming impairment and orofacial apraxia in several years after onset, and followed with various frontal symptoms. Another group showed anterior opereculum syndromes within two years after onset. The third group retained pure anarthria/apraxia of speech for many years without any other symptoms.

  7. Pure progressive aphemia.

    OpenAIRE

    Cohen, L; Benoit, N.; Van Eeckhout, P; Ducarne, B; Brunet, P.

    1993-01-01

    Aphemia, also called anarthria or severe apraxia of speech, is a rare disorder of speech production usually resulting from vascular lesions affecting the inferior premotor cortex of the left hemisphere. A patient presenting with aphemia as the sole manifestation of primary progressive aphasia (PPA) is reported.

  8. The Role of Output Speech in Literacy Acquisition: Evidence from Congenital Anarthria.

    Science.gov (United States)

    Cossu, Giuseppe

    2003-01-01

    Examines literary acquisition in a congenitally speechless child. Explains that in spite of a complete oral apraxia, the child developed normal intelligence and acquired complete mastery of reading and writing skills. Notes that though both his verbal memory and metaphonological skills were surprisingly preserved, he showed relative impairment in…

  9. 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…

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

    NARCIS (Netherlands)

    Eling, P.A.T.M.

    2016-01-01

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

  11. When "Simon Says" Doesn't Work: Alternatives to Imitation for Facilitating Early Speech Development

    Science.gov (United States)

    DeThorne, Laura S.; Johnson, Cynthia J.; Walder, Louise; Mahurin-Smith, Jamie

    2009-01-01

    Purpose: To provide clinicians with evidence-based strategies to facilitate early speech development in young children who are not readily imitating sounds. Relevant populations may include, but are not limited to, children with autism spectrum disorders, childhood apraxia of speech, and late-talking toddlers. Method: Through multifaceted search…

  12. Failure in Pantomime Action Execution Correlates with the Severity of Social Behavior Deficits in Children with Autism: A Praxis Study

    Science.gov (United States)

    Gizzonio, Valentina; Avanzini, Pietro; Campi, Cristina; Orivoli, Sonia; Piccolo, Benedetta; Cantalupo, Gaetano; Tassinari, Carlo Alberto; Rizzolatti, Giacomo; Fabbri-Destro, Maddalena

    2015-01-01

    Here we describe the performance of children with autism, their siblings, and typically developing children using the Florida Apraxia Battery. Children with autism showed the lowest performance in all sections of the test. They were mostly impaired in pantomime actions execution on imitation and on verbal command, and in imitation of meaningless…

  13. Joubert Syndrome - A Case Report

    Directory of Open Access Journals (Sweden)

    Bandichhode S. T.

    2013-07-01

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

  14. Aprataxin localizes to mitochondria and preserves mitochondrial function

    DEFF Research Database (Denmark)

    Sykora, Peter; Croteau, Deborah L; Bohr, Vilhelm A;

    2011-01-01

    Ataxia with oculomotor apraxia 1 is caused by mutation in the APTX gene, which encodes the DNA strand-break repair protein aprataxin. Aprataxin exhibits homology to the histidine triad superfamily of nucleotide hydrolases and transferases and removes 5'-adenylate groups from DNA that arise from...

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

    Science.gov (United States)

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

    2011-01-01

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

  16. Patterns of Dysfunction in Schizophrenic Patients on an Aphasia Test Battery

    Science.gov (United States)

    DiSimoni, Frank G.; And Others

    1977-01-01

    In a study comparing schizophrenic language performance with the language performance profiles characteristic of aphasia, apraxia of speech, generalized intellectual impairment, and confused language, 27 schizophrenic patients (20 to 67 years old) were tested with an aphasia test battery. (Author/IM)

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

    OpenAIRE

    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...

  18. Ravel's neurological illness.

    Science.gov (United States)

    Alonso, R J; Pascuzzi, R M

    1999-01-01

    In the last 10 years of his life, Maurice Ravel (1875-1937) experienced a gradually progressive decline in neurological function. Dr. Alajouanine examined Ravel, noting the presence of aphasia and apraxia with relative preservation of comprehension and memory. The exact diagnosis remains unclear, but the likelihood of a progressive degenerative disorder, such as frontotemporal dementia, is herein discussed.

  19. Clinical and Molecular Investigations Into Ciliopathies

    Science.gov (United States)

    2017-02-16

    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

  20. Size-weight illusion and anticipatory grip force scaling following unilateral cortical brain lesion.

    Science.gov (United States)

    Li, Yong; Randerath, Jennifer; Goldenberg, Georg; Hermsdörfer, Joachim

    2011-04-01

    The prediction of object weight from its size is an important prerequisite of skillful object manipulation. Grip and load forces anticipate object size during early phases of lifting an object. A mismatch between predicted and actual weight when two different sized objects have the same weight results in the size-weight illusion (SWI), the small object feeling heavier. This study explores whether lateralized brain lesions in patients with or without apraxia alter the size-weight illusion and impair anticipatory finger force scaling. Twenty patients with left brain damage (LBD, 10 with apraxia, 10 without apraxia), ten patients with right brain damage (RBD), and matched control subjects lifted two different-sized boxes in alternation. All subjects experienced a similar size-weight illusion. The anticipatory force scaling of all groups was in correspondence with the size cue: higher forces and force rates were applied to the big box and lower forces and force rates to the small box during the first lifts. Within few lifts, forces were scaled to actual object weight. Despite the lack of significant differences at group level, 5 out of 20 LBD patients showed abnormal predictive scaling of grip forces. They differed from the LBD patients with normal predictive scaling by a greater incidence of posterior occipito-parietal lesions but not by a greater incidence of apraxia. The findings do not support a more general role for the motor-dominant left hemisphere, or an influence of apraxia per se, in the scaling of finger force according to object properties. However, damage in the vicinity of the parietal-occipital junction may be critical for deriving predictions of weight from size.

  1. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

    Duffy, R J; Duffy, J R

    1989-07-01

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

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

    Directory of Open Access Journals (Sweden)

    M. Laiacona

    1996-01-01

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

  6. Systemic lupus erythematosus and Joubert Syndrome - case report

    OpenAIRE

    Correia, T.; Gonzaga, D; Manuela, F.; Temudo, T; Matos,P.; Guedes, M.; GOMES, L.; Reis,M.G.

    2007-01-01

    O síndrome de Joubert (SJ) é uma patologia autossómica recessiva rara, que resulta de uma anomalia da morfogénese do Sistema Nervoso Central. Clinicamente, cursa com hipotonia, anomalias do ritmo respiratório, apraxia oculomotora, ataxia, e atraso de desenvolvimento psicomotor. Imagiologicamente (TAC, RMN cerebral) caracteriza-se pelo sinal do “dente molar” resultante da agenesia do vermis cerebeloso Os autores descrevem o caso clínico de uma adolescente co...

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

    OpenAIRE

    Emília Katiane Embiruçu Leão; Marcília Martyn Lima; Otacílio de Oliveira Maia Júnior; Juliana Parizotto; Fernando Kok

    2010-01-01

    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 s...

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    J. C. Marshall

    1992-01-01

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

  10. Dos casos de atrofia cortical posterior, la demencia que inicia con síntomas visuales.

    OpenAIRE

    Custodio, Nilton; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima, Perú. Servicio de Neurología. Clínica Internacional. Lima, Perú. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima.; Lira, David; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima, Perú. Servicio de Neurología. Clínica Internacional. Lima, Perú. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima.; Herrera-Pérez, Eder; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima. Servicio de Medicina de Rehabilitación. Clínica Internacional. Lima.; Montesinos, Rosa; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima. Servicio de Medicina de Rehabilitación. Clínica Internacional. Lima.; Guevara-Silva, Erik; Departamento de Medicina. Hospital San Juan de Lurigancho. Lima.; Núñez del Prado, Liza; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima.; Castro-Suárez, Sheila; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Servicio de Neurología de la Conducta. Instituto Nacional de Ciencias Neurológicas. Lima.; Mar, Marcela; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Servicio de Geriatría. Hospital de la Fuerza Aérea del Perú. Lima.; Cuenca, José; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Servicio de Neurología de la Conducta. Instituto Nacional de Ciencias Neurológicas. Lima,; Cortijo, Patricia; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima, Perú. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima.

    2014-01-01

    Presentamos dos casos de demencia de inicio antes de los 65 años de edad con apraxia y manifestaciones visuo-espaciales, en los cuales no hay trastornos de memoria y de la conducta, y con diferentes grados de evolución a demencia. Las imágenes estructurales del cerebro demuestran atrofia parieto-occipital. Ambos casos reúnen los criterios de atrofia cortical posterior (ACP).

  11. Voice disorders in children with classic galactosemia

    OpenAIRE

    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...

  12. Toe agnosia in Gerstmann syndrome

    OpenAIRE

    Tucha, O.; Steup, A.; Smely, C.; Lange, K

    1997-01-01

    The following case report presents a patient exhibiting Gerstmann syndrome accompanied by toe agnosia. A 72 year old right handed woman had a focal lesion in the angular gyrus of the left hemisphere which was caused by a glioblastoma multiforme. The first symptom she had complained of was severe headache. Standardised neuropsychological tests of intelligence, memory, attention, fluency, apraxia, and language functions as well as tests for the assessment of agraphia, acalculia, right-...

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

    Science.gov (United States)

    Liégeois, Frédérique J; Morgan, Angela T

    2012-01-01

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

  14. [Progressive supranuclear palsy: what's new?].

    Science.gov (United States)

    Levy, Richard

    2011-06-01

    Progressive supranuclear palsy (PSP) has been described as a clinical syndrome characterized by an impairment of voluntary control of gaze (supranuclear palsy), postural and gait instability, and behavioral and cognitive deficits including a frontal syndrome and psychic retardation. However, in the recent years, at least four other clinical forms of PSP have been recognized: PSP-Parkinsonism, "pure akinesia with gait freezing", PSP with cortico-basal syndrome, and PSP with speech apraxia. PSP-Parkinsonism mimics the signs and symptoms of idiopathic Parkinson's disease, including a significant reactivity to levodopa. "Pure akinesia with gait freezing" is characterized by a difficulty of self-initiation of motor programs, usually walking program. PSP with cortico-basal syndrome mimics cortico-basal degeneration (CBD) in that unilateral or asymmetric limb dystonia and apraxia are prominent signs. PSP with speech apraxia is an isolated syndrome of progressive anarthria. All these clinical syndromes are due to brain accumulation of phosphorylated tau protein. The differences in clinical expression within the framework of PSP can be explained by the differences in the topographical distribution of the lesions. PSP is considered as a primary tau disease ("tauopathy") such as CBD and some forms of fronto-temporal lobar degeneration. At the level of neuropathology, the pattern of tau abnormal inclusions differentiates PSP from other tau diseases, but some overlaps are reported. Moreover, several of the clinical forms of PSP partially or fully overlap with the other tauopathies. As a whole, the emergence of new clinical forms of PSP challenges the nosology of tauopathies and our understanding of these diseases.

  15. Clinical symptoms and risk factors in cerebral microangiopathy patients.

    Directory of Open Access Journals (Sweden)

    Sandra Okroglic

    Full Text Available OBJECTIVE: Although the clinical manifestation and risk factors of cerebral microangiopathy (CM remain unclear, the number of diagnoses is increasing. Hence, patterns of association among lesion topography and severity, clinical symptoms and demographic and disease risk factors were investigated retrospectively in a cohort of CM patients. METHODS: Patients treated at the Department of Neurology, University of Bonn for CM (n = 223; 98m, 125f; aged 77.32±9.09 from 2005 to 2010 were retrospectively enrolled. Clinical symptoms, blood chemistry, potential risk factors, demographic data and ratings of vascular pathology in the brain based on the Wahlund scale were analyzed using Pearson's chi square test and one-way ANOVA. RESULTS: Progressive cognitive decline (38.1%, gait apraxia (27.8%, stroke-related symptoms and seizures (24.2%, TIA-symptoms (22% and vertigo (17% were frequent symptoms within the study population. Frontal lobe WMLs/lacunar infarcts led to more frequent presentation of progressive cognitive decline, seizures, gait apraxia, stroke-related symptoms, TIA, vertigo and incontinence. Parietooccipital WMLs/lacunar infarcts were related to higher frequencies of TIA, seizures and incontinence. Basal ganglia WMLs/lacunar infarcts were seen in patients with more complaints of gait apraxia, vertigo and incontinence. Age (p = .012, arterial hypertension (p<.000, obesity (p<.000 and cerebral macroangiopathy (p = .018 were positively related to cerebral lesion load. For increased glucose level, homocysteine, CRP and D-Dimers there was no association. CONCLUSION: This underlines the association of CM with neurological symptoms upon admission in a topographical manner. Seizures and vertigo are symptoms of CM which may have been missed in previous studies. In addition to confirming known risk factors such as aging and arterial hypertension, obesity appears to increase the risk as well. Since the incidence of CM is increasing, future

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

    Directory of Open Access Journals (Sweden)

    Patricia E Cowell

    2010-11-01

    Full Text Available 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., 2009; Varley et al., 2009. Investigations of treatment efficacy have presented challenges in study design, effect measurement and statistical analysis which are likely to be shared by other researchers in the wider field of cognitive neurorehabilitation evaluation. Several key factors define neurocognitively based therapies, and differentiate them and their evaluation from other forms of medical intervention. These include: (1 inability to blind patients to the content of the treatment and control procedures; (2 neurocognitive changes that are more permanent than pharmacological treatments on which many medical study designs are based; and (3 the semi-permanence of therapeutic effects means that new baselines are set throughout the course of a given treatment study, against which comparative interventions or long term retention effects must be measured. This article examines key issues in study design, effect measurement and data analysis in relation to the rehabilitation of patients undergoing treatment for apraxia of speech. Results from our research support a case for the use of multiperiod, multiphase cross-over design with specific computational adjustments and statistical considerations. The paper provides researchers in the field with a methodologically feasible and statistically viable alternative to other designs used in rehabilitation sciences.

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

    Directory of Open Access Journals (Sweden)

    Kerstin Jütten

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

  18. Cortical Lewy Body Dementia

    Directory of Open Access Journals (Sweden)

    W. R. G. Gibb

    1990-01-01

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

  19. Crossed-Brain Representation of Verbal and Nonverbal Functions

    Directory of Open Access Journals (Sweden)

    Esmeralda Matute

    2015-01-01

    Full Text Available A 74-year-old, left-handed man presented with a rapidly evolving loss of strength in his right leg associated with difficulty in walking. MR images disclosed an extensive left hemisphere tumor. A neuropsychological examination revealed that language was broadly normal but that the patient presented with severe nonlinguistic abnormalities, including hemineglect (both somatic and spatial, constructional defects, and general spatial disturbances; symptoms were usually associated with right hemisphere pathologies. No ideomotor apraxia was found. The implications of crossed-brain representations of verbal and nonverbal functions are analyzed.

  20. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

  2. Fidedignidade do Instrumento de Avaliação Neuropsicológica Breve Neupsilin

    OpenAIRE

    Pawlowski, Josiane; Parente,Maria Alice de Mattos Pimenta; Bandeira, Denise Ruschel

    2013-01-01

    La investigación examinó la fiabilidad del Instrumento de Evaluación Neuropsicológica Breve Neupsilin, desarrollado en Brasil. Participaron 102 hombres y mujeres brasileños, de 18 a 40 años de edad. Se evaluó la fiabilidad del test-retest del Neupsilin y de la corrección, por distintos evaluadores, de la prueba para evaluación de apraxia constructiva. Se analizaron los datos con: el test de correlación de Spearman, el coeficiente de correlación intraclase y el coeficiente alpha de Cronbach. L...

  3. Fiabilidad del Instrumento de Evaluación Neuropsicológica Breve Neupsilin

    OpenAIRE

    Josiane Pawlowski; Maria Alice de Mattos Pimenta Parente; Denise Ruschel Bandeira

    2013-01-01

    La investigación examinó la fiabilidad del Instrumento de Evaluación Neuropsicológica Breve Neupsilin, desarrollado en Brasil. Participaron 102 hombres y mujeres brasileños, de 18 a 40 años de edad. Se evaluó la fiabilidad del test-retest del Neupsilin y de la corrección, por distintos evaluadores, de la prueba para evaluación de apraxia constructiva. Se analizaron los datos con: el test de correlación de Spearman, el coeficiente de correlación intraclase y el coeficiente alpha de Cronbach. L...

  4. A fatal encephalopathy in chronic haemodialysis patients.

    Science.gov (United States)

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

    1976-04-10

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

  5. 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)

  6. El espejo de la acción y la encarnación de la cognición

    OpenAIRE

    Yorio, Alberto A.

    2009-01-01

    En este trabajo se comentan algunas evidencias que sugieren que los “engramas motores” y el “patrón de inervación motora”·clásicamente postulados como mecanismos independientes de la codificación de las “praxias”, tienen una existencia real y son funciones complementarias de una misma red de neuronas (“neuronas espejo”), que se localiza en la circunvolución supramarginal ubicada en el lóbulo parietal inferior izquierdo, cuya lesión ocasiona el trastorno neuropsicológico conocido como “apraxia...

  7. Neuropsicología clínica y cognoscitiva

    OpenAIRE

    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...

  8. 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

  9. Síndrome de Joubert

    OpenAIRE

    Andreia Vilas-Boas; Filipe Correia

    2014-01-01

    Mulher de 30 anos, com antecedentes de atraso do desenvolvimento psicomotor inicial. Observada em consulta por crises tónico-clónicas generalizadas. Ao exame objectivo apresentava, apraxia oculomotora subtil, estrabismo divergente do olho esquerdo e marcha de base alargada com instabilidade. Durante o estudo etiológico da epilepsia realizada ressonância magnética encefálica (RMN) que revelou a hipoplasia do vérmis do cerebelo, formando “sinal do dente molar”, sugestivo de síndrome de Joubert....

  10. O EFEITO DA FISIOTERAPIA PRECOCE SOBRE AS HABILIDADES MOTORAS NA SÍNDROME DE JOUBERT: RELATO DE CASO

    OpenAIRE

    FREITAS, T.C.B.; SOARES, E.V.; VERISSIMO, C.G.S.; MONTEIRO, H.S.P.

    2015-01-01

    A Síndrome de Joubert é uma doença congênita rara com prevalência de 1 em 100.000 casos, caracterizada por hipoplasia do vérmis cerebelar, resultando em má formação do tronco cerebral. Clinicamente, os pacientes apresentam principalmente atraso no desenvolvimento motor, ataxia, hipotonia e apraxia oculomotora. Com a fisioterapia precoce, o paciente é capaz de restabelecer habilidades motoras sendo capaz de realizar tarefas de forma mais independente possível. Verificar os efeitos ...

  11. Bilaterally impaired hand dexterity with posterior cortical atrophy

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    Nages Nagaratnam, MD, FRACP, FRCPA, FACC

    2015-12-01

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

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

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    Stefanie eKeulen

    2016-03-01

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

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

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    Juliano Luís Fontanari

    1989-06-01

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

  14. DISTURBIOS PRAXICOS EN LESIONES FOCALES DE LOS HEMISFERIOS CEREBRALES

    OpenAIRE

    Jorge Murillo Duran

    2007-01-01

    El propósito de este trabajo es analizar la dificultad paraxial, es decir, los desórdenes funcionales en el movimiento resultado de lesiones cerebrales del tejido fino. De acuerdo con la literatura sobre la materia, se ha aceptado la definición de la apraxia como la inhabilidad en ejecutar correctamente tareas cinéticas, sin la debilitación o la pérdida de motricidad o de funciones sensoriales o la ataxia como condicionante de tal inhabilidad". La "ejecución...

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

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    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.

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

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

    1999-12-01

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

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

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    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)

  18. Was Maurice Ravel's illness a corticobasal degeneration?

    Science.gov (United States)

    Baeck, E

    1996-02-01

    The French composer Maurice Ravel (1875-1937) was struck down at the peak of his career by an aphasia and apraxia that destroyed his artistic realization but preserved his musical sensibility and judgment. He died after craniotomy. Multiple hypotheses have been formulated to explain the exact nature of his illness, probably corticobasal degeneration. However, in the absence of a post-mortem examination, the diagnosis must remain speculative despite the accurate descriptions of the symptoms in numerous biographies, the neuro-psychological notes of Théophile Alajouanine and the operative findings of Clovis Vincent.

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

    Science.gov (United States)

    Henson, R A

    1988-06-04

    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 from a subdural haematoma. Vincent's operative findings are described here. The likely cause of Ravel's illness was a restricted form of cerebral degeneration.

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

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    Miura, Rina; Hattori, Hideyuki

    2014-11-01

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

  1. Posterior cortical atrophy: a brief review.

    Science.gov (United States)

    Kirshner, Howard S; Lavin, Patrick J M

    2006-11-01

    Posterior cortical atrophy is a striking clinical syndrome in which a dementing illness begins with visual symptoms. Initially, the problem may seem to be loss of elementary vision, but over time the patient develops features of visual agnosia, topographical difficulty, optic ataxia, simultanagnosia, ocular apraxia (Balint's syndrome), alexia, acalculia, right-left confusion, and agraphia (Gerstmann's syndrome), and later a more generalized dementia. Occasional patients have visual hallucinations and signs of Parkinson's disease or Lewy body dementia. A number of different neuropathologic disorders are associated with posterior cortical atrophy.

  2. Pure agraphia and Gerstmann's syndrome as a visuospatial-language dissociation: an experimental case study.

    Science.gov (United States)

    Levine, D N; Mani, R B; Calvanio, R

    1988-09-01

    A right-handed man suffered a left parieto-occipital cerebral infarction, causing agraphia with Gerstmann's syndrome but without major aphasia, alexia, or apraxia. Oral spelling was superior to written spelling. Experiments were performed involving (1) analysis of errors in writing, (2) tasks of visual imagery, and (3) identifying letters drawn without leaving a visual trace. The results suggest that the agraphia and Gerstmann's syndrome are due to a dissociation of language skills and visuospatial skills caused by a dominant parieto-occipital lesion.

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

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    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.

  4. [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.

  5. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.

    Science.gov (United States)

    Wolf, Nicole I; Koenig, Michel

    2013-01-01

    The hereditary ataxias with onset in childhood are a group of heterogeneous disorders, usually with autosomal recessive inheritance. In many of them, magnetic resonance imaging (MRI) shows cerebellar atrophy. The most prominent exception to this is Friedreich's ataxia, where MRI shows normal cerebellar volume, but sometimes spinal cord atrophy. In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type I and II. Mitochondrial metabolism is impaired in another group of inherited ataxias including the emergent group of defects in coenzyme Q10 synthesis. Few of these disorders are amenable to effective treatment, the most important of these being vitamin E-responsive ataxia. The autosomal dominant spinocerebellar ataxias are rare in childhood. Some of them, especially SCA7 and SCA2, may begin in childhood or even infancy, family history being positive in these cases. Additional clinical clues such as presence or absence of neuropathy or oculomotor apraxia still help in making a definitive diagnosis albeit there are still many unsolved cases. In pontocerebellar hypoplasia, a neurodegenerative disease with prenatal onset, the genetic basis of the different subtypes has recently been elucidated and involves genes with different functions.

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

    Science.gov (United States)

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

    2005-11-01

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

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

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    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.

  8. Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2.

    Science.gov (United States)

    Giovagnoli, Anna Rita; Marcon, Gabriella; Giaccone, Giorgio; Confaloni, Anna Maria; Tagliavini, Fabrizio

    2006-01-01

    The neuropsychological assessment of non-demented subjects with gene mutation of familial Alzheimer's disease (AD) provides a model for exploring the early cognitive features of the disease. We evaluated 1 patient and 6 non-demented subjects belonging to a family with AD with M239V mutation of the presenilin 2 gene, aiming to verify the contribution of specific cognitive patterns to the characterization of familial AD. One patient, 3 non-demented subjects with M239V mutation and 3 subjects without mutation from the same family underwent neuropsychological testing. The patient's cognitive profile was characterized by anosognosia, visuospatial agnosia, apraxia and fluent aphasia. Of the 3 non-demented subjects with mutation, 1 showed no deficits, another constructive apraxia and the third spatial perception and memory deficits. The 3 subjects without mutation showed normal abilities. The cognitive deficits of the non-demented subjects with mutations indicate focal dysfunction of the posterior cortical areas, resembling the more extended parieto-occipito-temporal dysfunction of the demented patient. Such grading of visuospatial, praxis, and language impairments highlights a distinctive pattern related to the M239V mutation of the presenilin 2 gene.

  9. Exploring visuospatial abilities and their contribution to constructional abilities and nonverbal intelligence.

    Science.gov (United States)

    Trojano, Luigi; Siciliano, Mattia; Cristinzio, Chiara; Grossi, Dario

    2017-01-09

    The present study aimed at exploring relationships among the visuospatial tasks included in the Battery for Visuospatial Abilities (BVA), and at assessing the relative contribution of different facets of visuospatial processing on tests tapping constructional abilities and nonverbal abstract reasoning. One hundred forty-four healthy subjects with a normal score on Mini Mental State Examination completed the BVA plus Raven's Coloured Progressive Matrices and Constructional Apraxia test. We used Principal Axis Factoring and Parallel Analysis to investigate relationships among the BVA visuospatial tasks, and performed regression analyses to assess the visuospatial contribution to constructional abilities and nonverbal abstract reasoning. Principal Axis Factoring and Parallel Analysis revealed two eigenvalues exceeding 1, accounting for about 60% of the variance. A 2-factor model provided the best fit. Factor 1 included sub-tests exploring "complex" visuospatial skills, whereas Factor 2 included two subtests tapping "simple" visuospatial skills. Regression analyses revealed that both Factor 1 and Factor 2 significantly affected performance on Raven's Coloured Progressive Matrices, whereas only the Factor 1 affected performance on Constructional Apraxia test. Our results supported functional segregation proposed by De Renzi, suggesting clinical caution to utilize a single test to assess visuospatial domain, and qualified the visuospatial contribution in drawing and non-verbal intelligence test.

  10. Slowly progressive anarthria with late anterior opercular syndrome: a variant form of frontal cortical atrophy syndromes.

    Science.gov (United States)

    Broussolle, E; Bakchine, S; Tommasi, M; Laurent, B; Bazin, B; Cinotti, L; Cohen, L; Chazot, G

    1996-12-01

    We describe eight patients with slowly progressive speech production deficit combining speech apraxia, dysarthria, dysprosody and orofacial apraxia, and initially no other deficit in other language and non-language neuropsychological domains. Long-term follow-up (6-10 years) in 4 cases showed an evolution to muteness, bilateral suprabulbar paresis with automatic-voluntary dissociation and frontal lobe cognitive slowing without generalised intellectual deterioration. Most disabled patients presented with an anterior opercular syndrome (Foix-Chavany-Marie syndrome), and pyramidal or extrapyramidal signs. CT and MRI findings disclosed asymmetric (left > right) progressive cortical atrophy of the frontal lobes predominating in the posterior inferior frontal region, notably the operculum. SPECT and PET revealed a decreased cerebral blood flow and metabolism, prominent in the left posterior-inferior frontal gyrus and premotor cortex, extending bilaterally in the most advanced cases. Pathological study of two cases showed non-specific neuronal loss, gliosis, and spongiosis of superficial cortical layers, mainly confined to the frontal lobes, with no significant abnormalities in the basal ganglia, thalamus, cerebellum, brain stem (except severe neuronal loss in the substantia nigra in one case), and spinal cord. We propose to call this peculiar syndrome Slowly Progressive Anarthria (SPA), based on its specific clinical presentation, and its metabolic and pathological correlates. SPA represents another clinical expression of focal cortical degeneration syndromes, that may overlap with other similar syndromes, specially primary progressive aphasia and the various frontal lobe dementias.

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

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    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.

  12. Praxial disorders in focal lesions of cerebral hemispheres

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    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.

  13. 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.

  14. 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.

  15. Pick and Alzheimer diseases: a rare comorbidity presenting as corticobasal syndrome.

    Science.gov (United States)

    Rusina, Robert; Pazdera, Ladislav; Kulišťák, Petr; Vyšata, Oldřich; Matěj, Radoslav

    2013-12-01

    We describe a patient with corticobasal syndrome in whom neuropathological examination on autopsy revealed Pick and Alzheimer diseases in comorbidity. Corticobasal degeneration is a tauopathy usually associated with asymmetric parkinsonism, parietal lobe involvement, and cognitive impairment. Corticobasal syndrome is the clinical presentation of corticobasal degeneration without neuropathological confirmation. A 66-year-old right-handed man slowly developed speech difficulties, right-hand clumsiness, and forgetfulness. His speech apraxia progressed to mutism with preserved comprehension, and his clumsiness progressed to severe apraxia involving both hands. He developed behavioral changes and severe amnesia. All of these features were consistent with corticobasal syndrome. His loss of episodic, verbal, and visuospatial memory suggested Alzheimer disease; however, beyond his frontotemporal neuropsychological profile, he had few symptoms characteristic of frontal lobe dementia. Magnetic resonance imaging scans showed worsening temporal, frontal, and parietal atrophy, predominant in the left hemisphere. Neuropathological examination at autopsy revealed abundant neuritic plaques and neurofibrillary tangles consistent with fully developed Alzheimer disease, as well as numerous intraneuronal Pick bodies in the frontotemporal lobes. Our findings confirm the importance of clinical and neuropathological correlations in patients with atypical neurodegenerative dementias.

  16. 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.

  17. 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.

  18. Praxis and writing in a right-hander with crossed aphasia.

    Science.gov (United States)

    Falchook, Adam D; Burtis, D Brandon; Acosta, Lealani M; Salazar, Liliana; Shushrutha Hedna, Vishnumurthy; Khanna, Anna Y; Heilman, Kenneth M

    2014-06-01

    Studies of patients with brain lesions have demonstrated that language and praxis are mediated by dissociable networks. However, language has the capacity to influence the selection of purposeful actions. The abilities to use language and to program purposeful movements are often mediated by networks that have anatomic proximity. With hemispheric injury, the diagnosis of apraxia is often confounded by the specific influence of language impairments on the ability to select and produce transitive gestures. We report a patient who illustrates this confound. This patient is a right-handed man who developed global aphasia and neglect after a right hemispheric stroke. His right hand remained deft, and when asked to produce specific transitive gestures (pantomimes), he often performed normally but did make some body part as object and perseverative errors. However, he did not demonstrate the temporal or spatial errors typical of ideomotor apraxia. He also had a perseverative agraphia. Our patient's left hemisphere praxis system appeared to be intact, and the error types demonstrated during production of transitive gestures cannot be attributed to a degradation of postural and movement (praxis) programs mediated by his left hemisphere. The praxis errors types are most consistent with a deficit in the ability to select the necessary praxis programs. Thus, our patient appeared to have dissociation between language and praxis programs that resulted in body part as object and perseverative errors.

  19. [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.

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

    Science.gov (United States)

    Kuo, Chih-Lan; Lo, Sui-Foon; Liu, Chun-Lin; Chou, Chia-Hui; Chou, Li-Wei

    2012-01-01

    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.

  1. [Familial posterior cortical atrophy with visual agnosia and Bálint's syndrome].

    Science.gov (United States)

    Otsuki, M; Soma, Y; Tanaka, M; Tanaka, K; Tanno, Y; Uesugi, Y; Tsuji, S

    1995-12-01

    We report a patient of posterior cortical atrophy with progressive visual agnosia, Bálint's syndrome and dementia in which posterior cortical atrophy with similar characteristics on CT and progressive dementia were found in a sister. The patient was a 75-year-old woman who noted the onset of a progressive visual disorder at the age of 70, and whose family first noticed disoriented behavior at around the same period. Ophthalmologic examinations revealed mild cataract but no evidence of peripheral optic nerve or retinal lesions. Neuropsychological examination showed right homonymous hemianopia, visual agnosia, Bálint's syndrome, mild transcortical sensory aphasia, Gerstmann's syndrome, constructional apraxia, mild ideomotor apraxia and memory disorder. MRI showed marked dilatation of both lateral ventricles, especially the posterior horns, and severe atrophy of the occipital lobes, hippocampus, and the parahippocampal gyrus. Assessment of regional cerebral blood flow by IMP-SPECT revealed a generalized decrease in the temporo-parieto-occipital region bilaterally. The patient's sister began to show evidence of progressive dementia at 80 years of age and CT of the brain revealed marked atrophy, predominantly in the occipital lobes, similar to that of the patient. We believe this to be the first report of posterior cortical atrophy with a positive family history, suggesting the possibility of a hereditary syndrome.

  2. Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.

    Science.gov (United States)

    Verghese, J; Weidenheim, K; Malik, S; Rapin, I

    2002-11-01

    Pigmentary type of orthochromatic leukodystrophy (POLD) is an adult-onset leukodystrophy, characterized pathologically by the presence of glial and microglial cytoplasmic pigment inclusions. The complete phenotype, genotype and pathogenetic mechanisms in POLD have not been elucidated. We followed for 18 years a woman with autopsy-proven POLD, who presented with 'frontal' dementia and spasticity. Her further course was marked by progressive mutism, apraxia and seizures. Her sister had died of the same disease after a much more rapidly progressing course. These sisters had primary infertility with pathologic evidence of streak ovaries. Diagnosis was confirmed in both cases by post-mortem examination. POLD is a rare cause of adult-onset leukodystrophy presenting with dementia. Ovarian dysgenesis is extremely rare in the absence of demonstrable chromosomal abnormalities and extends the clinical spectrum of POLD.

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

    Directory of Open Access Journals (Sweden)

    Renan M. Pereira

    2015-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  5. Quantitative assessment of impairment in constructional ability by cube copying in patients with aphasia.

    Science.gov (United States)

    Maeshima, Shinichiro; Ueyoshi, Akitaka; Matsumoto, Tomoko; Boh-Oka, Shin-Ichi; Yoshida, Munehito; Itakura, Toru

    2002-02-01

    Constructional apraxia was evaluated in patients with aphasia using a cube-copying task. It was assessed whether quantitative assessment of cube copying could be used to estimate the performance intelligence quotient (IQ) according to neuropsychological tests. Abnormality in the cube-copying test was observed in 42 of 46 patients (91.3%). Performance according to Raven's coloured progressive matrices and the revised Wechshler adult intelligence scale (WAIS-R) in patients with poor cube copying was significantly lower than in the other four patients. Numbers of the connections completed and plane-orientation errors made in the cube-copying test were significantly correlated with performance IQ on the WAIS-R, correlating particularly with block design, digit symbol, and object assembly in performance IQ subtests. The quantitatively scored cube-copying test, then, can roughly predict non-verbal IQ in patients with aphasia.

  6. 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.

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

    Science.gov (United States)

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

    2006-01-01

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

  8. Agraphia in Mobile Text Messages in a Case of Amyotrophic Lateral Sclerosis with Frontotemporal Dementia.

    Science.gov (United States)

    Maeda, Kengo; Shiraishi, Tomoyuki; Idehara, Ryo

    2015-01-01

    We herein describe the case of a woman with amyotrophic lateral sclerosis (ALS) showing errors in her choice of Japanese kana characters in her mobile text messages and agraphia of the kana in her handwriting in spite of the absence of weakness, ataxia, or apraxia of her hands. Magnetic resonance imaging showed the atrophy of the frontal lobes. Single-photon emission computed tomography revealed hypoperfusion of the frontal lobes including Exner's area. Although patients with bulbar-onset ALS have been reported to show agraphia of handwriting, in this case the basis of her agraphia might have been the disturbance of the pathway converting phones to graphemes in series, by which errors of spelling or writing would appear in any modality of output.

  9. The helicase senataxin suppresses the antiviral transcriptional response and controls viral biogenesis

    Science.gov (United States)

    Miller, Matthew S.; Rialdi, Alexander; Ho, Jessica Sook Yuin; Tilove, Micah; Martinez-Gil, Luis; Moshkina, Natasha P.; Peralta, Zuleyma; Noel, Justine; Melegari, Camilla; Maestre, Ana; Mitsopoulos, Panagiotis; Madrenas, Joaquín; Heinz, Sven; Benner, Chris; Young, John A. T.; Feagins, Alicia R.; Basler, Christopher; Fernandez-Sesma, Ana; Becherel, Olivier J.; Lavin, Martin F.; van Bakel, Harm; Marazzi, Ivan

    2015-01-01

    The human helicase senataxin (SETX) is implicated in the neurodegenerative diseases amyotrophic lateral sclerosis (ALS4) and ataxia with oculomotor apraxia (AOA2). Here, we reveal a role for SETX in controlling the antiviral response. Cells depleted for SETX and AOA2 patient-derived SETX-deficient cells exhibit increased expression of antiviral mediators in response to infection. Mechanistically, we propose a model whereby SETX attenuates RNA polymerase II (RNAPII) activity at genes stimulated upon viral sensing, thus controlling the magnitude of the host response to pathogens and the biogenesis of numerous RNA viruses (e. g. Influenza A virus and West Nile virus). Our data indicate a potentially causal link between SETX inborn errors, susceptibility to infection and development of neurologic disorders. PMID:25822250

  10. Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis.

    Science.gov (United States)

    Miller, Matthew S; Rialdi, Alexander; Ho, Jessica Sook Yuin; Tilove, Micah; Martinez-Gil, Luis; Moshkina, Natasha P; Peralta, Zuleyma; Noel, Justine; Melegari, Camilla; Maestre, Ana M; Mitsopoulos, Panagiotis; Madrenas, Joaquín; Heinz, Sven; Benner, Chris; Young, John A T; Feagins, Alicia R; Basler, Christopher F; Fernandez-Sesma, Ana; Becherel, Olivier J; Lavin, Martin F; van Bakel, Harm; Marazzi, Ivan

    2015-05-01

    The human helicase senataxin (SETX) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (ALS4) and ataxia with oculomotor apraxia (AOA2). Here we identified a role for SETX in controlling the antiviral response. Cells that had undergone depletion of SETX and SETX-deficient cells derived from patients with AOA2 had higher expression of antiviral mediators in response to infection than did wild-type cells. Mechanistically, we propose a model whereby SETX attenuates the activity of RNA polymerase II (RNAPII) at genes stimulated after a virus is sensed and thus controls the magnitude of the host response to pathogens and the biogenesis of various RNA viruses (e.g., influenza A virus and West Nile virus). Our data indicate a potentially causal link among inborn errors in SETX, susceptibility to infection and the development of neurologic disorders.

  11. An exploratory study of the influence of load and practice on segmental and articulatory variability in children with speech sound disorders.

    Science.gov (United States)

    Vuolo, Janet; Goffman, Lisa

    2016-12-14

    This exploratory treatment study used phonetic transcription and speech kinematics to examine changes in segmental and articulatory variability. Nine children, ages 4 to 8 years old, served as participants, including two with childhood apraxia of speech (CAS), five with speech sound disorder (SSD) and two who were typically developing. Children practised producing agent + action phrases in an imitation task (low linguistic load) and a retrieval task (high linguistic load) over five sessions. In the imitation task in session one, both participants with CAS showed high degrees of segmental and articulatory variability. After five sessions, imitation practice resulted in increased articulatory variability for five participants. Retrieval practice resulted in decreased articulatory variability in three participants with SSD. These results suggest that short-term speech production practice in rote imitation disrupts articulatory control in children with and without CAS. In contrast, tasks that require linguistic processing may scaffold learning for children with SSD but not CAS.

  12. [Aphasia in practice--recent progress].

    Science.gov (United States)

    Otsuki, Mika

    2008-11-01

    In terms of practical view, the type of aphasia can be classified by four elementary symptoms: anarthria (apraxia of speech), phonemic paraphasia, word comprehension impairment, word finding difficulty. Each elementary symptom has been established by causative lesion: anarthria for lowed posterior part of the left precentral gyrus, phonemic paraphasia for the left marginal gyrus and underlying white matter, word comprehension impairment for the left middle frontal gyrus or the posterior part of superior and middle temporal gyrus (the area called Wernickle's area), word finding difficulty for the left inferior frontal gyrus or the left angular gyrus or the left posterior part of the inferior temporal gyrus. In addition to ordinary estimation of language some devised examination enables distinction of the symptoms due to frontal lesion and the symptom due to the posterior lesion. This methods taking advantage of the symptoms related apahasia is also useful for making diagnosis and knowing prognosis of progressive aphasia.

  13. Alien Limb Syndrome Responsive to Amantadine in a Patient with Corticobasal Syndrome

    Science.gov (United States)

    Gondim, Francisco de Assis Aquino; Tavares Júnior, José Wagner Leonel; Morais, Arlindo A.; Sales, Paulo Marcelo Gondim; Wagner, Horta Goes

    2015-01-01

    Background Corticobasal syndrome (CBS) is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine. Case Report A 79-year-old female was referred for evaluation of right hemiparesis. Neurological examination showed dementia, normal ocular movements, mild facial hypomimia, and bradykinesia with right hemiparesis. Nine years later, she developed alien limb syndrome and was diagnosed with CBS. After failure to respond to several medications, alien limb syndrome markedly improved with amantadine. Discussion To the best of our knowledge, this is the first report of a consistent response of severe, forced dystonic alien limb syndrome to amantadine in a patient with CBS. PMID:26217545

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

    Science.gov (United States)

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

    2016-06-21

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

  15. Acalculia and dyscalculia.

    Science.gov (United States)

    Ardila, Alfredo; Rosselli, Mónica

    2002-12-01

    Even though it is generally recognized that calculation ability represents a most important type of cognition, there is a significant paucity in the study of acalculia. In this paper the historical evolution of calculation abilities in humankind and the appearance of numerical concepts in child development are reviewed. Developmental calculation disturbances (developmental dyscalculia) are analyzed. It is proposed that calculation ability represents a multifactor skill, including verbal, spatial, memory, body knowledge, and executive function abilities. A general distinction between primary and secondary acalculias is presented, and different types of acquired calculation disturbances are analyzed. The association between acalculia and aphasia, apraxia and dementia is further considered, and special mention to the so-called Gerstmann syndrome is made. A model for the neuropsychological assessment of numerical abilities is proposed, and some general guidelines for the rehabilitation of calculation disturbances are presented.

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

    Science.gov (United States)

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

    2011-01-01

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

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

    Science.gov (United States)

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

    2011-06-01

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

  18. Why the Left Hemisphere Is Dominant for Speech Production: Connecting the Dots

    Directory of Open Access Journals (Sweden)

    Harvey Martin Sussman

    2015-12-01

    Full Text Available Evidence from seemingly disparate areas of speech/language research is reviewed to form a unified theoretical account for why the left hemisphere is specialized for speech production. Research findings from studies investigating hemispheric lateralization of infant babbling, the primacy of the syllable in phonological structure, rhyming performance in split-brain patients, rhyming ability and phonetic categorization in children diagnosed with developmental apraxia of speech, rules governing exchange errors in spoonerisms, organizational principles of neocortical control of learned motor behaviors, and multi-electrode recordings of human neuronal responses to speech sounds are described and common threads highlighted. It is suggested that the emergence, in developmental neurogenesis, of a hard-wired, syllabically-organized, neural substrate representing the phonemic sound elements of one’s language, particularly the vocalic nucleus, is the crucial factor underlying the left hemisphere’s dominance for speech production.

  19. The association between stroke location and return to work after first stroke.

    Science.gov (United States)

    Saeki, Satoru; Hachisuka, Kenji

    2004-01-01

    Although various factors, including age, race, job category, disability, and cortical function, have been associated with return to work (RTW) after stroke, few studies have examined the influence of stroke location on RTW. We conducted a retrospective cohort study on the association between stroke location and RTW after first stroke. The patients were all younger than age 65 years and were working at the time of their stroke (n = 126). A follow-up questionnaire evaluated RTW. Data were analyzed using the Cox proportional hazards model for hazard ratios (HRs) of successful RTW, taking potential confounding factors into consideration. The Cox model revealed that maximum weakness (HR 3.74, normal vs severe), apraxia (10.7, no vs yes), and occupation (2.11, white collar vs blue collar) were significant predictors, but stroke location was not a significant predictor. We conclude that stroke location is less important than other easily measured factors in predicting RTW.

  20. 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.

  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. Rituximab-Associated Inflammatory Progressive Multifocal Leukoencephalopathy

    Science.gov (United States)

    Schofield, Christina; Harris, Penelope

    2016-01-01

    Progressive multifocal leukoencephalopathy (PML) is a rare disease of the immunosuppression that results from neurotropic invasion of the JC virus which leads to demyelination of oligodendrocytes. Immune reconstitution inflammatory syndrome (IRIS), on the other hand, is a condition of inflammation that develops as the immune system reconstitutes. This case report describes a case of a 35-year-old HIV-negative male who presented with three weeks of right lower extremity paresthesias as well as right upper extremity apraxia. He was diagnosed with PML complicated by IRIS secondary to Rituximab, which he had completed four months prior to presentation. Despite the condition's poor prognosis, the patient recovered with only minor deficits. PMID:27965904

  3. Oral methylphenidate for the treatment of refractory facial dystonias.

    Science.gov (United States)

    Eftekhari, Kian; Choe, Christina H; Vagefi, M Reza; Gausas, Roberta E; Eckstein, Lauren A

    2015-01-01

    Oral methylphenidate (Ritalin, Novartis) has been reported to alleviate symptoms of benign essential blepharospasm in an off-label application. This series presents 3 patients with refractory periorbital and facial dystonias, including blepharospasm, apraxia of eyelid opening, and oromandibular dystonia unresponsive to standard treatments who experienced a response to oral methylphenidate therapy. While the mechanisms for facial dystonias have not been elucidated, there is evidence to suggest that they are on the spectrum with Parkinson disease. Given the role of dopamine loss in the pathogenesis of Parkinson, the authors' speculate that methylphenidate may be acting on the pathway directly involved in facial dystonias. To the authors' knowledge, this is the first report of a case of successful treatment of blepharospasm refractory to upper eyelid myectomy with methylphenidate monotherapy.

  4. A case of diabetes mellitus associated with Rett syndrome.

    Science.gov (United States)

    Akin, Leyla; Adal, Erdal; Akin, Mustafa Ali; Kurtoglu, Selim

    2012-01-01

    Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome.

  5. Cerebral blood flow in patients with dementia of Alzheimer's type

    DEFF Research Database (Denmark)

    Postiglione, A; Lassen, N A; Holman, B L

    1993-01-01

    In the normal brain as well as in Alzheimer's disease (AD), regional cerebral blood flow (CBF) is coupled to metabolic demand and, therefore, changes in CBF reflect variations in neuronal metabolism. The use of radionuclide techniques, such as positron emission tomography (PET) and single photon...... of the disease. Lateral CBF asymmetry is also very frequent; speech disorders are highly characteristic of left-sided flow reduction, while visuospatial apraxia is dominating in the right-sided cases. In advanced and severe cases of AD, CBF and metabolism tend to be more uniformly reduced throughout the cortex......, sparing only the primary visual and sensory-motor cortices. PET and SPECT measurement of brain perfusion and metabolism has added a new dimension to the knowledge of dementia disorders, with a better differential diagnosis between AD and other forms of dementia. The correlation with neuropsychological...

  6. 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.

  7. Comparação do perfil de saúde bucal em idosos demenciados e não demenciados atendidos no Hospital Universitário de Brasília

    OpenAIRE

    Carvalho, Liana Rodrigues Taminato de

    2013-01-01

    O processo de envelhecimento traz consigo alterações de saúde importantes, dentre elas as doenças crônico-degenerativas, como as síndromes demenciais. Nestes quadros podem estar presentes a afasia, apraxia, agnosia, além da perda de memória e alterações do comportamento em graus variáveis que levam invariavelmente ao empobrecimento da saúde bucal. Considerando a alta prevalência de utilização de próteses dentárias removíveis, a hipossalivação, e a dificuldade de realização da higiene bucal, d...

  8. Voice disorders in children with classic galactosemia.

    Science.gov (United States)

    Potter, Nancy L

    2011-04-01

    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 with classic galactosemia had decreased respiratory-phonatory support for speech, and 33% had disturbed vocal quality that was indicative of cerebellar dysfunction. Three children, two diagnosed with CAS and one not diagnosed with a motor speech disorder, had vocal tremors. Treatment of voice dysfunction in neurogenic speech disorders is discussed.

  9. Handmade task tracking applied to cognitive rehabilitation.

    Science.gov (United States)

    Cogollor, José M; Hughes, Charmayne; Ferre, Manuel; Rojo, Javier; Hermsdörfer, Joachim; Wing, Alan; Campo, Sandra

    2012-10-22

    This article presents research focused on tracking manual tasks that are applied in cognitive rehabilitation so as to analyze the movements of patients who suffer from Apraxia and Action Disorganization Syndrome (AADS). This kind of patients find executing Activities of Daily Living (ADL) too difficult due to the loss of memory and capacity to carry out sequential tasks or the impossibility of associating different objects with their functions. This contribution is developed from the work of Universidad Politécnica de Madrid and Technical University of Munich in collaboration with The University of Birmingham. The KinectTM for Windows© device is used for this purpose. The data collected is compared to an ultrasonic motion capture system. The results indicate a moderate to strong correlation between signals. They also verify that KinectTM is very suitable and inexpensive. Moreover, it turns out to be a motion-capture system quite easy to implement for kinematics analysis in ADL.

  10. 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.

  11. 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.

  12. 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.

  13. Activation of left intraparietal sulcus using a fMRI conceptual praxis paradigm Ativação do sulco intraparietal esquerdo utilizando RMf e um paradigma de praxis conceitual

    Directory of Open Access Journals (Sweden)

    JORGE MOLL

    1998-12-01

    Full Text Available The present paper reports the results of a fMRI subtraction study of the pattern of cortical activation induced by an ideational praxis paradigm in six normal right-handed subjects. The control task consisted of a sequence of complex meaningless hand movements. A complete study was done for each hand in each subject. The left intraparietal sulcus was the only structure activated in all subjects regardless of the hand used in the task. These findings, albeit preliminary, suggest that the organization of actions involving the mediation of tools and utensils are strongly lateralized to the left hemisphere and that damage to the dominant intraparietal sulcus may be critical for the development of the clinical syndrome of conceptual apraxia.No presente artigo, reportamos os resultados de RMf da ativação cortical induzida por um paradigma de praxis de uso de ferramentas em seis pessoas dextras normais. A tarefa-controle consistiu de uma sequência de movimentos unimanuais complexos, mas desprovidos de significado. Um estudo completo de pantomima e controle foi feito para cada mão. O sulco intraparietal esquerdo foi a única estrutura ativada em todos os indivíduos, independentemente da mão utilizada. Esses achados, embora preliminares, indicam que a organização de ações mediadas por ferramentas e utensílios são fortemente lateralizadas para o hemisfério esquerdo nas pessoas normais, e sugerem que lesões na região do sulco intraparietal do hemisfério dominante são críticas para o aparecimento de apraxia conceitual.

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

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    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

  15. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

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    Tyler Mark Pierson

    2011-10-01

    Full Text Available We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7. Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28, a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2(Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2(Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other "mitochondrial" features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.

  16. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

    Science.gov (United States)

    Pierson, Tyler Mark; Adams, David; Bonn, Florian; Martinelli, Paola; Cherukuri, Praveen F; Teer, Jamie K; Hansen, Nancy F; Cruz, Pedro; Mullikin For The Nisc Comparative Sequencing Program, James C; Blakesley, Robert W; Golas, Gretchen; Kwan, Justin; Sandler, Anthony; Fuentes Fajardo, Karin; Markello, Thomas; Tifft, Cynthia; Blackstone, Craig; Rugarli, Elena I; Langer, Thomas; Gahl, William A; Toro, Camilo

    2011-10-01

    We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7). Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2(Y616C) gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2(Y616C) complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other "mitochondrial" features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.

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

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    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

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

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    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.

  19. The syndrome of progressive posterior cortical dysfunction: A multiple case study and review

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    Renata Areza-Fegyveres

    Full Text Available Abstract Dementia presenting with prominent higher order visual symptoms may be observed in a range of neurodegenerative conditions and is often challenging to diagnose. Objectives: To describe cases of progressive dementia presenting with prominent visual cortical symptoms. Methods: We conducted a retrospective search of cases of progressive dementia with predominant visual symptoms, seen at our dementia unit from 1996 to 2006. Results: Twelve patients (5 men, 7 women were identified, with ages ranging from 49 to 67 years. At the first examination, the duration of the symptoms ranged from one to ten years and the Mini-Mental State Examination scores from 7 to 27. Eleven patients presented with predominant visuospatial symptoms (partial or complete Balint syndrome and one with visuoperceptive impairment. Other reported manifestations were: constructional apraxia in 11 patients, partial or complete Gerstmann syndrome in ten, ideomotor apraxia in nine, hemineglect or extinction in four patients, alien hand phenomenon in three, and prosopagnosia in one patient. Memory loss was reported by ten patients, but was not the main complaint in any of these cases. Insight was relatively preserved in five patients even after a long period following the onset of symptoms. Six patients developed parkinsonism during evolution. Clinical diagnoses were possible or probable AD in seven patients, cortico-basal degeneration in four, and dementia with Lewy body in one. Conclusions: Clinicians should consider this condition especially in presenile patients with slowly progressive higher-order visual symptoms. Although described in association with different conditions, it may also occur in Alzheimer disease.

  20. Spatial neglect, Balint-Homes' and Gerstmann's syndrome, and other spatial disorders.

    Science.gov (United States)

    Vallar, Giuseppe

    2007-07-01

    Brain-damaged patients with lesion or dysfunction involving the parietal cortex may show a variety of neuropsychological impairments involving spatial cognition. The more frequent and disabling deficit is the syndrome of unilateral spatial neglect that, in a nutshell, consists in a bias of spatial representation and attention ipsilateral to of extrapersonal, personal (ie, the body) space, or both, toward the side of the hemispheric lesion. The deficit is more frequent and severe after damage to the right hemisphere, involving particularly the posterior-inferior parietal cortex at the temporo-parietal junction. Damage to these posterior parietal regions may also impair visuospatial short-term memory, which may be associated with and worsen spatial neglect. The neural network supporting spatial representation, attention and short-term memory is, however, more extensive, including the right premotor cortex. Also disorders of drawing and building objects (traditionally termed constructional apraxia) are a frequent indicator of posterior parietal damage in the left and in the right hemispheres. Other less frequent deficits, which, however, have a relevant localizing value, include optic ataxia (namely, the defective reaching of visual objects, in the absence of elementary visuo-motor impairments), which is typically brought about by damage to the superior parietal lobule. Optic ataxia, together with deficits of visual attention, of estimating distances and depth, and with apraxia of gaze, constitutes the severely disabling Balint-Holmes' syndrome, which is typically associated with bilateral posterior parietal and occipital damage. Finally, lesions of the posterior parietal lobule (angular gyrus) in the left hemisphere may bring about a tetrad of symptoms (left-right disorientation, acalculia, finger agnosia, and agraphia) termed Gerstmann's syndrome, that also exists in a developmental form.

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

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    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

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

    Institute of Scientific and Technical Information of China (English)

    张美云; 张本恕; 王颖; 高硕

    2012-01-01

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

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

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    Ricardo de Oliveira-Souza

    2007-12-01

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

  4. [A case of crossed aphasia with echolalia after the resection of tumor in the right medial frontal lobe].

    Science.gov (United States)

    Endo, K; Suzuki, K; Yamadori, A; Kumabe, T; Seki, K; Fujii, T

    2001-03-01

    We report a right-handed woman, who developed a non-fluent aphasia after resection of astrocytoma (grade III) in the right medial frontal lobe. On admission to the rehabilitation department, neurological examination revealed mild left hemiparesis, hyperreflexia on the left side and grasp reflex on the left hand. Neuropsychologically she showed general inattention, non-fluent aphasia, acalculia, constructional disability, and mild buccofacial apraxia. No other apraxia, unilateral spatial neglect or extinction phenomena were observed. An MRI demonstrated resected areas in the right superior frontal gyrus, subcortical region in the right middle frontal gyrus, anterior part of the cingulate gyrus, a part of supplementary motor area. Surrounding area in the right frontal lobe showed diffuse signal change. She demonstrated non-fluent aprosodic speech with word finding difficulty. No phonemic paraphasia, or anarthria was observed. Auditory comprehension was fair with some difficulty in comprehending complex commands. Naming was good, but verbal fluency tests for a category or phonemic cuing was severely impaired. She could repeat words but not sentences. Reading comprehension was disturbed by semantic paralexia and writing words was poor for both Kana (syllabogram) and Kanji(logogram) characters. A significant feature of her speech was mitigated echolalia. In both free conversation and examination setting, she often repeated phrases spoken to her which she used to start her speech. In addition, she repeated words spoken to others which were totally irrelevant to her conversation. She was aware of her echoing, which always embarrassed her. She described her echolalic tendency as a great nuisance. However, once echoing being forbidden, she could not initiate her speech and made incorrect responses after long delay. Thus, her compulsive echolalia helped to start her speech. Only four patients with crossed aphasia demonstrated echolalia in the literature. They showed severe

  5. Mirror image agnosia

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    Sadanandavalli Retnaswami Chandra

    2014-01-01

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

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

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    Florian eBrugger

    2015-10-01

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

  7. 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

  8. 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

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

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    Defebvre, L. [Hopital Roger Salengro, Service de Neurologie, 59 - Lille (France)

    1999-12-01

    Main metabolic and hemodynamic abnormalities detected by single photon emission computerized tomography and positron emission tomography in extra-pyramidal disorders are reported. In the first stage of Parkinson's disease, cortical metabolism and perfusion can be in normal range or moderately and uniformly reduced. A significant decrease may appear with the disease evolution. Marked abnormalities are observed in parkinsonian patients with dementia (subcortical dementia), involving especially the frontal cortex. A marked diffuse cortical hypo-metabolism (temporal, parietal, occipital and frontal cortex) may suggest the diagnosis of dementia with Lewy bodies, especially in case of fluctuating cognitive decline with recurrent visual hallucinations. In progressive supra-nuclear palsy, a frontal cortex hypo-metabolism is reported precociously, preceding sometimes the cognitive impairment. Metabolic pattern find in multiple system atrophy reflects dysfunction of both nigrostriatal pathways and striatum, with a decrease glucose uptake in putamen and caudate nucleus which also involves cerebellum for the patients with cerebellar syndrome. In cortico-basal degeneration, asymmetric fronto-parietal and striatal hypo-metabolism observed in the controlateral hemisphere to the clinically most affected side, constitute the main characteristic well correlated with apraxia. (author)

  10. MARCHIAFAVA-BIGNAMI DISEASE (MBD AND DIFFUSION TENSOR IMAGE (DTI TRACTOGRAPHY

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    Priscilla Chukwueke

    2015-06-01

    Full Text Available Marchiafava-Bignami Disease (MBD is a rare central nervous system (CNS disease characterized by demyelination of the corpus callosum. It is mostly found in men with alcohol use disorder and malnutrition with cases reported worldwide across all races. The onset of the disease may be sudden presenting with stupor, coma or seizures while some may present with gait abnormality (spasticity, psychiatric problems, hemiparesis, aphasia, apraxia and incontinence with a resultant high morbidity and mortality rates. Case description: patient is a 30 year old left handed African-American, who presented with c/o altered mental status, urinary incontinence, slurred speech and left-sided weakness. The diagnosis of MBD was confirmed with DTI Tractography which showed significantly diminished commissural fibers extending to the right central semiovale lesion, near absent or significantly diminished commissural fiber extending through the corpus callosum indicating demyelination. Discussion: MBD is often an incidental diagnosis with high morbidity and mortality. This is different from previous casas because of earlier onset as opposed to onset around age 45, rapid recovery and minimal disability as he could walk independently before discharge from hospital. This case also shows added benefit of the DTI tractography in the diagnosis of MBD.

  11. Crossed Aphasia and Visuo-Spatial Neglect Following a Right Thalamic Stroke: A Case Study and Review of the Literature

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    Lieve De Witte

    2008-01-01

    Full Text Available Crossed aphasia in dextrals (CAD following pure subcortical lesions is rare. This study describes a right-handed patient with an ischemic lesion in the right thalamus. In the post-acute phase of the stroke, a unique combination of ‘crossed thalamic aphasia’ was found with left visuo-spatial neglect and constructional apraxia. On the basis of the criteria used in Mariën et al. [67], this case-report is the first reliable representative of vascular CAD following an isolated lesion in the right thalamus. Furthermore, this paper presents a detailed analysis of linguistic and cognitive impairments of ‘possible’ and 'reliable' subcortical CAD-cases published since 1975. Out of 25 patients with a pure subcortical lesion, nine cases were considered as ‘possibly reliable or reliable’. A review of these cases reveals that: (1 demographic data are consistent with the general findings for the entire group of vascular CAD, (2 the neurolinguistic findings do not support the data in the general CAD-population with regard to (a the high prevalence of transcortical aphasia and (b the tendency towards a copresence of an oral versus written language dissociation and a ‘mirror-image’ lesion-aphasia profile, (3 subcortical CAD is not a transient phenomenon, (4 the lesion-aphasia correlations are not congruent with the high incidence of anomalous cases in the general CAD-population, (5 neuropsychological impairments may accompany subcortical CAD.

  12. Chapter 37: alexia and agraphia.

    Science.gov (United States)

    Henderson, Victor W

    2010-01-01

    Studies of alexia and agraphia have played important roles in understanding how complex cognitive functions are related to brain structure and activity. Modern interests in brain-behavior relations began during the second half of the 19th century as an outgrowth of flawed correlative studies by neuroanatomist Franz Gall and subsequent clinical-pathological analyses by Jean-Baptiste Boulliaud on speech and the frontal lobes. In 1856, Louis Victor Marcé drew attention to writing disorders and postulated a cerebral faculty for writing. Following Paul Broca's epochal reports on aphemia, many European physicians investigated reading and writing impairments after brain injury. Albert Pitres published the first detailed description of isolated agraphia, and Adolf Kussmaul identified alexia as an isolated symptom of brain disease. Jules Dejerine in 1892 provided the first clinical-pathological descriptions of pure alexia, and he suggested a key role for the left parietal lobe in reading and writing. In the 20th century, varieties of agraphia or alexia were linked to apraxia (Hugo Liepmann), impaired body image (Josef Gerstmann), spatial misperception, and interhemispheric disconnection. Other analyses focused on error types that defined new clinical syndromes (e.g. deep dyslexia) and provided evidence for cognitive modularity.

  13. 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.

  14. Related or not? Development of spontaneous Creutzfeldt–Jakob disease in a patient with chronic, well-controlled HIV: A case report and review of the literature

    Science.gov (United States)

    Babi, M-Alain; Kraft, Bryan D; Sengupta, Sweta; Peterson, Haley; Orgel, Ryan; Wegermann, Zachary; Lugogo, Njira L; Luedke, Matthew W

    2016-01-01

    Background: We report a novel case of a rare disease: spontaneous Creutzfeldt–Jakob disease in a patient with well-controlled HIV. We explore the relationship between spontaneous Creutzfeldt–Jakob disease and HIV. Case report: A 66-year-old man with long-standing, well-controlled HIV infection presented with 3 months of progressive, subacute neurocognitive decline. His symptoms included conceptual apraxia, apathy, memory impairment, and gait disturbance, and were initially attributed to depressive “pseudo-dementia.” Unfortunately, the patient’s symptoms rapidly progressed and he ultimately succumbed to his illness. Autopsy confirmed the clinical diagnosis of spontaneous Creutzfeldt–Jakob disease. Discussion: This case highlights spontaneous Creutzfeldt–Jakob disease as a rare terminal illness in the setting of well-controlled chronic HIV. To our knowledge, this is the first report of a patient with chronic and previously well-controlled HIV infection dying from a prion disease. Despite the very different epidemiology and pathophysiology of HIV and spontaneous Creutzfeldt–Jakob disease, this case does raise questions of whether certain host genetic factors could predispose to both conditions, albeit currently, there is no clear causal link between HIV and spontaneous Creutzfeldt–Jakob disease.

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

    Directory of Open Access Journals (Sweden)

    Harrison N. Jones

    2011-01-01

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

  16. Multidisciplinary assessment and diagnosis of conversion disorder in a patient with foreign accent syndrome.

    Science.gov (United States)

    Jones, Harrison N; Story, Tyler J; Collins, Timothy A; Dejoy, Daniel; Edwards, Christopher L

    2011-01-01

    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.

  17. Senataxin controls meiotic silencing through ATR activation and chromatin remodeling.

    Science.gov (United States)

    Yeo, Abrey J; Becherel, Olivier J; Luff, John E; Graham, Mark E; Richard, Derek; Lavin, Martin F

    2015-01-01

    Senataxin, defective in ataxia oculomotor apraxia type 2, protects the genome by facilitating the resolution of RNA-DNA hybrids (R-loops) and other aspects of RNA processing. Disruption of this gene in mice causes failure of meiotic recombination and defective meiotic sex chromosome inactivation, leading to male infertility. Here we provide evidence that the disruption of Setx leads to reduced SUMOylation and disruption of protein localization across the XY body during meiosis. We demonstrate that senataxin and other DNA damage repair proteins, including ataxia telangiectasia and Rad3-related protein-interacting partner, are SUMOylated, and a marked downregulation of both ataxia telangiectasia and Rad3-related protein-interacting partner and TopBP1 leading to defective activation and signaling through ataxia telangiectasia and Rad3-related protein occurs in the absence of senataxin. Furthermore, chromodomain helicase DNA-binding protein 4, a component of the nucleosome remodeling and deacetylase chromatin remodeler that interacts with both ataxia telangiectasia and Rad3-related protein and senataxin was not recruited efficiently to the XY body, triggering altered histone acetylation and chromatin conformation in Setx (-/-) pachytene-staged spermatocytes. These results demonstrate that senataxin has a critical role in ataxia telangiectasia and Rad3-related protein- and chromodomain helicase DNA-binding protein 4-mediated transcriptional silencing and chromatin remodeling during meiosis providing greater insight into its critical role in gene regulation to protect against neurodegeneration.

  18. Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing.

    Directory of Open Access Journals (Sweden)

    Olivier J Becherel

    2013-04-01

    Full Text Available Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2, plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at two stages in meiosis during crossing-over in homologous recombination and in meiotic sex chromosome inactivation (MSCI. Disruption of the Setx gene caused persistence of DNA double-strand breaks, a defect in disassembly of Rad51 filaments, accumulation of DNA:RNA hybrids (R-loops, and ultimately a failure of crossing-over. Senataxin localised to the XY body in a Brca1-dependent manner, and in its absence there was incomplete localisation of DNA damage response proteins to the XY chromosomes and ATR was retained on the axial elements of these chromosomes, failing to diffuse out into chromatin. Furthermore persistence of RNA polymerase II activity, altered ubH2A distribution, and abnormal XY-linked gene expression in Setx⁻/⁻ revealed an essential role for senataxin in MSCI. These data support key roles for senataxin in coordinating meiotic crossing-over with transcription and in gene silencing to protect the integrity of the genome.

  19. Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing.

    Science.gov (United States)

    Becherel, Olivier J; Yeo, Abrey J; Stellati, Alissa; Heng, Evelyn Y H; Luff, John; Suraweera, Amila M; Woods, Rick; Fleming, Jean; Carrie, Dianne; McKinney, Kristine; Xu, Xiaoling; Deng, Chuxia; Lavin, Martin F

    2013-04-01

    Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at two stages in meiosis during crossing-over in homologous recombination and in meiotic sex chromosome inactivation (MSCI). Disruption of the Setx gene caused persistence of DNA double-strand breaks, a defect in disassembly of Rad51 filaments, accumulation of DNA:RNA hybrids (R-loops), and ultimately a failure of crossing-over. Senataxin localised to the XY body in a Brca1-dependent manner, and in its absence there was incomplete localisation of DNA damage response proteins to the XY chromosomes and ATR was retained on the axial elements of these chromosomes, failing to diffuse out into chromatin. Furthermore persistence of RNA polymerase II activity, altered ubH2A distribution, and abnormal XY-linked gene expression in Setx⁻/⁻ revealed an essential role for senataxin in MSCI. These data support key roles for senataxin in coordinating meiotic crossing-over with transcription and in gene silencing to protect the integrity of the genome.

  20. 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.

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

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    Schneider, Frank [Universitaetsklinikum Aachen (Germany); Fink, Gereon R. (eds.) [Forschungszentrum Juelich GmbH (Germany); Uniklinik Koeln (Germany)

    2013-08-01

    The book on functional MRT in psychiatry and neurology covers the following topics: (I) Fundamentals: functional neuro-anatomy, fundamentals of NMR imaging, basic research on the clinical use for diagnostics and therapy; basics of morphometry; real-time fMRT, planning and execution of experimental paradigms; data analysis and statistics; reliability and quality of fMRT experiments; eye movement, neuropharmacologic functional imaging, gender dependent effects, age dependent effects, resting state fMRT; meta analyses. (II) Higher brain achievements: movement and action, perception and attention, visual system and object processing, auditory system, executive functions, somatosensoric system, memory, learning and gratification system, functional neuro-anatomy of speech, number processing and calculation, connectivity, social cognition, emotions, olfactory system, functional imaging in the pain research. (III) Disease pattern: dystonia, Parkinson syndrome, Chorea Huntington, aphasia, apraxia, neglect, amnesia, function recovery following apoplexy, schizophrenia, affective disturbances, anxiety and fear, post-traumatic disturbances, hyperactivity syndrome, personality disorder. (IV) Working tools: brain atlas, tool for integrated analyses of structure, functionality and connectivity (SPM anatomy toolbox).

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

    Science.gov (United States)

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

    2012-07-01

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

  3. 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.

  4. Evidences in the treatment of idiopathic normal pressure hydrocephalus

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    Matheus Fernandes de Oliveira

    2015-06-01

    Full Text Available Summary Introduction: idiopathic normal pressure hydrocephalus (INPH is characterized by gait apraxia, cognitive dysfunction and urinary incontinence. There are two main treatment options: ventriculoperitoneal shunt (VPS and endoscopic third ventriculostomy (ETV. However, there are doubts about which modality is superior and what type of valve should be applied. We are summarizing the current evidence in INPH treatment. Methods: an electronic search of the literature was conducted on the Medline, Embase, Scielo and Lilacs databases from 1966 to the present to obtain data published about INPH treatment. Results: the treatment is based on three pillars: conservative, ETV and VPS. The conservative option has fallen into disuse after various studies showing good results after surgical intervention. ETV is an acceptable mode of treatment, but the superiority of VPS has made the latter the gold standard. Conclusion: well-designed studies with a high level of appropriate evidence are still scarce, but the current gold standard for treatment of INPH is conducted using VPS.

  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. [Chronic ataxia in childhood].

    Science.gov (United States)

    Erazo Torricelli, Ricardo

    2013-01-01

    Chronic ataxias are an heterogeneous group of disorders that affect the child at different ages. Thus, the congenital forms, generally non progressive are observed from first months of life and are expressed by hypotonia and motor delay long before the ataxia became evident. The cerebral magnetic resonance images (MRI) may be diagnostic in some pictures like Joubert syndrome. The group of progressive hereditary ataxias, usually begin after the infant period. The clinical signs are gait instability and ocular apraxia that can be associated with oculocutaneous telangiectasias (ataxia-telangiesctasia) or with sensory neuropathy (Friedreich ataxia). In this review are briefly described congenital ataxias and in more detailed form the progressive hereditary ataxias autosomal recessive, autosomal dominants and mitochondrials. The importance of genetic study is emphasized, because it is the key to obtain the diagnosis in the majority of these diseases. Although now there are no treatments for the majority of progressive hereditary ataxias, some they have like Refsum disease, vitamine E deficiency, Coenzyme Q10 deficiency and others, thus the diagnosis in these cases is even more important. At present the diagnosis of childhood hereditary ataxia not yet treatable is fundamental to obtain suitable handling, determine a precise outcome and to give to the family an opportune genetic counseling.

  8. A Foxp2 Mutation Implicated in Human Speech Deficits Alters Sequencing of Ultrasonic Vocalizations in Adult Male Mice

    Science.gov (United States)

    Chabout, Jonathan; Sarkar, Abhra; Patel, Sheel R.; Radden, Taylor; Dunson, David B.; Fisher, Simon E.; Jarvis, Erich D.

    2016-01-01

    Development of proficient spoken language skills is disrupted by mutations of the FOXP2 transcription factor. A heterozygous missense mutation in the KE family causes speech apraxia, involving difficulty producing words with complex learned sequences of syllables. Manipulations in songbirds have helped to elucidate the role of this gene in vocal learning, but findings in non-human mammals have been limited or inconclusive. Here, we performed a systematic study of ultrasonic vocalizations (USVs) of adult male mice carrying the KE family mutation. Using novel statistical tools, we found that Foxp2 heterozygous mice did not have detectable changes in USV syllable acoustic structure, but produced shorter sequences and did not shift to more complex syntax in social contexts where wildtype animals did. Heterozygous mice also displayed a shift in the position of their rudimentary laryngeal motor cortex (LMC) layer-5 neurons. Our findings indicate that although mouse USVs are mostly innate, the underlying contributions of FoxP2 to sequencing of vocalizations are conserved with humans.

  9. Rett Syndrome -- an update.

    Science.gov (United States)

    Jellinger, K A

    2003-06-01

    Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. It occurs almost exclusively in females with an estimated prevalence of 1 in 10-22000 births and is considered a manifestation of defective brain maturation caused by dominant mutation of the MeCP2 gene encoding the transcriptional repressor methyl-CpG-binding protein 2 related to the Xq28 locus. Although many different mutations of this protein are being studied in humans and in mice, the molecular pathogenesis of this disorder remains unclear. Electroencephalography is abnormal in the final stages of the syndrome. Neuroimaging showing brain atrophy may be required for differential diagnosis that includes neurodegenerative and metabolic disorders. Neuropathology shows decreased brain growth and reduced size of individual neurons, with thinned dendrites in some cortical layers and abnormalities in substantia nigra (decreased neuromelanin content), suggestive of deficient synaptogenic development, probably starting before birth. Neurometabolic changes include reduced levels of dopamine, serotonin, noradrenalin, choline acetyltransferase (ChAT), nerve growth factors, endorphines, glutamate, and other amino acids and their receptor levels in brain. Current treatment includes symptomatic, anticonvulsive and physiotherapy.

  10. Movement disorders induced by deep brain stimulation.

    Science.gov (United States)

    Baizabal-Carvallo, José Fidel; Jankovic, Joseph

    2016-04-01

    Deep brain stimulation represents a major advance in the treatment of several types of movement disorders. However, during stimulation new movement disorders may emerge, thus limiting the positive effects of this therapy. These movement disorders may be induced by: 1) stimulation of the targeted nucleus, 2) stimulation of surrounding tracts and nuclei, and 3) as a result of dose adjustment of accompanying medications, such as reduction of dopaminergic drugs in patients with Parkinson's disease. Various dyskinesias, blepharospasm, and apraxia of eyelid opening have been described mainly with subthalamic nucleus stimulation, whereas hypokinesia and freezing of gait have been observed with stimulation of the globus pallidus internus. Other deep brain stimulation-related movement disorders include dyskinesias associated with stimulation of the globus pallidus externus and ataxic gait as a side effect of chronic bilateral stimulation of the ventral intermediate nucleus of thalamus. These movement disorders are generally reversible and usually resolved once the stimulation is reduced or turned off. This, however, typically leads to loss of benefit of the underlying movement disorder which can be re-gained by using different contacts, changing targets or stimulation parameters, and adjusting pharmacological therapy. New and innovative emerging technologies and stimulation techniques may help to prevent or overcome the various deep brain stimulation-induced movement disorders. In this review we aim to describe the clinical features, frequency, pathophysiology, and strategies for treatment of these iatrogenic movement disorders.

  11. Can patients without early, prominent visual deficits still be diagnosed of posterior cortical atrophy?

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    Suárez-González, A.; Crutch, S.J.; Roldán Lora, F.; Franco-Macías, E.; Gil-Néciga, E.

    2016-01-01

    Background Early and progressive disabling visual impairment is a core feature for the diagnosis of posterior cortical atrophy (PCA). However, some individuals that fulfil criteria over time might initially present with an onset of prominent posterior dysfunction other than visuoperceptual. Methods The clinical profile of five patients with a predominantly ‘non-visual’ posterior presentation (PCA2) was investigated and compared with sixteen individuals with visually predominant PCA (PCA1) and eighteen with typical amnestic Alzheimer disease (tAD). Results PCA2 patients showed significantly better performance than PCA1 in one visuospatial task and were free of Balint's syndrome and visual agnosia. Compared to tAD, PCA2 showed trends towards significantly lower performance in visuoperceptual tasks, more severe apraxia and more symptoms of Gerstmann's syndrome. Conclusions Our sample of PCA2 patients did not present with clinically prominent visual symptoms but did show visual dysfunction on formal neuropsychological assessment (less pronounced than in PCA1 but more than in tAD) in addition to other posterior deficits. Broadening the definition of PCA to encompass individuals presenting with prominent ‘non-visual’ posterior dysfunction should be potentially considered in clinical and research contexts. PMID:27423559

  12. Clinical variability in ataxia-telangiectasia.

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    Lohmann, Ebba; Krüger, Stefanie; Hauser, Ann-Kathrin; Hanagasi, Hasmet; Guven, Gamze; Erginel-Unaltuna, Nihan; Biskup, Saskia; Gasser, Thomas

    2015-07-01

    Ataxia-telangiectasia (A-T) is an autosomal recessive inherited disease characterized by progressive childhood-onset cerebellar ataxia, oculomotor apraxia, choreoathetosis and telangiectasias of the conjunctivae. Further symptoms may be immunodeficiency and frequent infections, and an increased risk of malignancy. As well as this classic manifestation, several other non-classic forms exist, including milder or incomplete A-T phenotypes caused by homozygous or compound heterozygous mutations in the ATM gene. Recently, ATM mutations have been found in 13 Canadian Mennonites with early-onset, isolated, predominantly cervical dystonia, in a French family with generalized dystonia and in an Indian family with dopa-responsive cervical dystonia. In this article, we will describe a Turkish family with three affected sibs. Their phenotypes range from pure cervical dystonia associated with hand tremor to truncal and more generalized dystonic postures. Exome sequencing has revealed the potentially pathogenic compound heterozygous variants p.V2716A and p.G301VfsX19 in the ATM gene. The variants segregated perfectly with the phenotypes within the family. Both mutations detected in ATM have been shown to be pathogenic, and the α-fetoprotein, a marker of ataxia telangiectasia, was found to be increased. This report supports recent literature showing that ATM mutations are not exclusively associated with A-T but may also cause a more, even intra-familial variable phenotype in particular in association with dystonia.

  13. Fiabilidad del Instrumento de Evaluación Neuropsicológica Breve Neupsilin

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    Josiane Pawlowski

    2013-01-01

    Full Text Available La investigación examinó la fiabilidad del Instrumento de Evaluación Neuropsicológica Breve Neupsilin, desarrollado en Brasil. Participaron 102 hombres y mujeres brasileños, de 18 a 40 años de edad. Se evaluó la fiabilidad del test-retest del Neupsilin y de la corrección, por distintos evaluadores, de la prueba para evaluación de apraxia constructiva. Se analizaron los datos con: el test de correlación de Spearman, el coeficiente de correlación intraclase y el coeficiente alpha de Cronbach. Las habilidades de lenguaje, memoria, praxias y funciones ejecutivas presentaron las más altas correlaciones para los resultados del test-retest. Se encontró una concordancia de moderada a alta entre los correctores de la tarea de praxia constructiva. Los resultados indicaron fiabilidad temporal para las tareas evaluadas por el Neupsilin y fiabilidad del corrector para la tarea praxia constructiva. Se presentan sugerencias para perfeccionar las tareas y mejorar la fiabilidad y la validez de la prueba.

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

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    Francesca Caso

    2013-01-01

    Full Text Available The role of biomarkers in predicting pathological findings in the frontotemporal dementia (FTD clinical spectrum disorders is still being explored. We present comprehensive, prospective longitudinal data for a 66 year old, right-handed female who met current criteria for the nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA. She first presented with a 3-year history of progressive speech and language impairment mainly characterized by severe apraxia of speech. Neuropsychological and general motor functions remained relatively spared throughout the clinical course. Voxel-based morphometry (VBM showed selective cortical atrophy of the left posterior inferior frontal gyrus (IFG and underlying insula that worsened over time, extending along the left premotor strip. Five years after her first evaluation, she developed mild memory impairment and underwent PET-FDG and PiB scans that showed left frontal hypometabolism and cortical amyloidosis. Three years later (11 years from first symptom, post-mortem histopathological evaluation revealed Pick's disease, with severe degeneration of left IFG, mid-insula, and precentral gyrus. Alzheimer’s disease (AD (CERAD frequent/Braak Stage V was also detected. This patient demonstrates that biomarkers indicating brain amyloidosis should not be considered conclusive evidence that AD pathology accounts for a typical FTD clinical/anatomical syndrome.

  15. 突发性纯词哑病1例

    Institute of Scientific and Technical Information of China (English)

    于增志; 姜树军

    2000-01-01

    @@纯词哑(aphemia)又称构音性失用(phonetic apraxia)或言语讷吃(anarthria).在临床上真正的纯词哑是一种相当罕见且独特的言语障碍临床综合征[1],通常由于脑血管病影响左半球次级运动前皮质所致.此类患者口语表达能力严重障碍而文字表达及理解等其它语言功能均正常.笔者检索了国内、外近10年有关纯词哑的文献,国外关于这方面的研究相对较多[1,4,5],而国内期刊尚无文献报道.本院收治1例纯词哑患者,报告如下.

  16. Progressive nonfluent aphasia associated with a new mutation V363I in tau gene.

    Science.gov (United States)

    Munoz, David G; Ros, Raquel; Fatas, Marta; Bermejo, Felix; de Yebenes, Justo García

    2007-01-01

    Reported here is a new missense mutation V363I in exon 12 of the microtubule-associated protein tau (MAPT) gene associated with progressive nonfluent aphasia, with onset at the age of 69 years in a woman. Although near mute, she maintained complex activities and had no discernible deficits outside of language until the age of 75 years, when progressive gait and swallowing disturbances appeared. There was a history of late-onset aphasia and apraxia in her father. All of her children were asymptomatic adults, but psycholinguistic abnormalities were detected in those bearing the mutation, consisting of difficulties in comprehension, both reading (symbol discrimination and comprehension of oral spelling) and oral (matching sentences to pictures and comprehension of locative relationships). A mutation-bearing sibling showed no abnormalities at 70 years old, consistent with the limited penetrance expected in late-onset disease. The mutation, corresponding to a highly conserved residue in the fourth tubulin-binding repeat, was not present in 194 normal individuals with the same genetic background.

  17. 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.

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

    Science.gov (United States)

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

    2007-04-01

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

  19. 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.

  20. Environment-driven responses in progressive supranuclear palsy.

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    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.

  1. Pyridoxine-dependent seizures: a review.

    Science.gov (United States)

    Rajesh, R; Girija, A S

    2003-07-01

    Pyridoxine-dependent seizure is a rare autosomal recessive disorder that usually presents with neonatal intractable seizures. This syndrome results from an inborn abnormality of the enzyme glutamic acid decarboxylase, which results in reduced pyridazine-dependent synthesis of the inhibitory neurotransmitter gamma amino butyric acid. The full range of symptomatology is unknown; but can be associated with autism, breath holding and severe mental retardation, bilious vomiting, transient visual agnosia, severe articulatory apraxia motor dyspraxia, microcephaly and intrauterine seizures. Parenteral pyridine injection test is a highly effective and reproducible test in confirming the diagnosis. Pyridoxine should be administered as a diagnostic test in all cases of convulsive disorders of infancy in which no other diagnosis is evident. Epileptic seizure discharges subside within 2-6 minutes after the intravenous injection of 50-100 mg of pyridaoxine. Once the diagnosis is confirmed, maintenance therapy should be continued indefinitely and doses increased with age or intercurrent illnesses. The maintenance dose of Bg needed is still not clear. There is a relatively wide range for the daily B6 dose necessary to control the seizure i.e., 10-200 mg/day.

  2. Impairment-oriented training (IOT)--scientific concept and evidence-based treatment strategies.

    Science.gov (United States)

    Platz, T

    2004-01-01

    Everyday activities can be affected by many different body dysfunctions (impairments). A multi-modal analysis of electric brain activity revealed that movement-related brain activity is differentially altered in patients with different impairments, i.e. paresis, somatosensory deficits, and apraxia. Each body dysfunction has its own characteristics in terms of the resulting sensorimotor control deficits. The Impairment-oriented Training concept intends to characterise the resulting sensorimotor control deficits for each impairment. Based on such analyses two specific training techniques have been developed for stroke patients with mild and severe arm paresis: (1.) The Arm Ability training for mild arm paresis trains different sensorimotor abilities such as dexterity, speed of isolated hand and finger movements, steadiness, aiming, or tracking under visual guidance. Improvement of these motor abilities leads to improved motor performance in every day life circumstances. (2.) The Arm BASI S training for severe arm paresis intends to restore more basic motor control, i.e. the full range of active non-segmented motion of all limb segments, both postural activities and dynamic motion control, interjoint-coordination, and adequate motor control when external forces are applied. Clinical trials with representative study populations supported both techniques' clinical efficacy.

  3. Lack of Frank Agrammatism in the Nonfluent Agrammatic Variant of Primary Progressive Aphasia

    Science.gov (United States)

    Graham, Naida L.; Leonard, Carol; Tang-Wai, David F.; Black, Sandra; Chow, Tiffany W.; Scott, Chris J.M.; McNeely, Alicia A.; Masellis, Mario; Rochon, Elizabeth

    2016-01-01

    Background/Aims Frank agrammatism, defined as the omission and/or substitution of grammatical morphemes with associated grammatical errors, is variably reported in patients with nonfluent variant primary progressive aphasia (nfPPA). This study addressed whether frank agrammatism is typical in agrammatic nfPPA patients when this feature is not required for diagnosis. Method We assessed grammatical production in 9 patients who satisfied current diagnostic criteria. Although the focus was agrammatism, motor speech skills were also evaluated to determine whether dysfluency arose primarily from apraxia of speech (AOS), instead of, or in addition to, agrammatism. Volumetric MRI analyses provided impartial imaging-supported diagnosis. Results The majority of cases exhibited neither frank agrammatism nor AOS. Conclusion There are nfPPA patients with imaging-supported diagnosis and preserved motor speech skills who do not exhibit frank agrammatism, and this may persist beyond the earliest stages of the illness. Because absence of frank agrammatism is a subsidiary diagnostic feature in the logopenic variant of PPA, this result has implications for differentiation of the nonfluent and logopenic variants, and indicates that PPA patients with nonfluent speech in the absence of frank agrammatism or AOS do not necessarily have the logopenic variant.

  4. Intra-word inconsistency in apraxic Hebrew-speaking children.

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    Tubul-Lavy, Gila

    2012-06-01

    Intra-word inconsistency in a child is perceived as an indicator of speech impairment. Because the speech of typically developing children is highly variable, the extent and nature of the inconsistency must be defined when used as a diagnostic marker of speech impairment (McLeod, S., & Hewett, S. R. (2008). Variability in the production of words containing consonant clusters by typical 2- and 3-year-old children. Folia Phoniatrica et Logopaedica, 60(4), 163-172). In this paper, we study inconsistency with reference to the prosodic hierarchy (McCarthy, J. J., & Prince, A. S. (1996). Prosodic morphology 1986. Amherst, MA: University of Massachusetts. Retrieved April 15, 2010, from http://ruccs.rutgers.edu/pub/papers/pm86all.pdf), suggesting a new way to describe this phenomenon in childhood apraxia of speech (CAS). The prosodic hierarchy has been used in recent years to demonstrate the phonological development of typical and atypical populations. Sixteen children diagnosed with CAS (average age 3;11) participated in the study. The data, collected from each child in the course of eight weekly meetings, are drawn from naming single words. The results indicate that inconsistency is dominant for two prosodic levels, the segmental and the syllabic, while the prosodic word level was largely preserved.

  5. 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 30 min 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.

  6. 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.

  7. Remission of anosognosia for right hemiplegia and neglect after caloric vestibular stimulation.

    Science.gov (United States)

    Ronchi, Roberta; Rode, Gilles; Cotton, François; Farnè, Alessandro; Rossetti, Yves; Jacquin-Courtois, Sophie

    2013-01-01

    Neglect and related phenomena, as anosognosia for hemiplegia and somatoparaphrenia, are often associated to right-hemisphere lesions. These deficits can be alleviated by caloric vestibular stimulation, but little is known about the efficacy of this physiological intervention on neglect following left-hemisphere lesions. Here we report the case of an ambidextrous left brain-damaged patient with severe right personal and extrapersonal neglect, anosognosia for right hemiplegia and somatoparaphrenia. These symptoms co-occurred with more typical manifestations of left-brain damage, such as aphasia and apraxia. Neurological examination revealed right hemiplegia, hemianesthesia and hemianopia. Visuo-spatial tests for personal and extrapersonal neglect, as well as an anosognosia questionnaire, were submitted before and after caloric vestibular stimulation. Results showed a dramatic improvement of anosognosia for hemiplegia and neglect; no change was observed for the remaining deficits. The results confirm the notion of the selectivity of vestibular stimulation for neglect and related disorders and extend this notion by showing that similar effects can be obtained after lesion of the left hemisphere, suggesting that similar mechanisms are responsible for left- and right-sided neglect. Such a peculiar association of language and visuo-spatial disorders jointly present after a left-sided lesion opens the question of the link between handedness and lateralization of cognitive functions.

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

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    Julie Harvengt

    2014-01-01

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

  9. TOOL USE DISORDERS AFTER LEFT BRAIN DAMAGE

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    Josselin eBaumard

    2014-05-01

    Full Text Available In this paper we review studies that investigated tool use disorders in left-brain damaged (LBD patients over the last thirty years. Four tasks are classically used in the field of apraxia: Pantomime of tool use, single tool use, real tool use and mechanical problem solving. Our aim was to address two issues, namely, (1 the role of mechanical knowledge in real tool use and (2 the cognitive mechanisms underlying pantomime of tool use, a task widely employed by clinicians and researchers. To do so, we extracted data from 36 papers and computed the difference between healthy subjects and LBD patients. On the whole, pantomime of tool use is the most difficult task and real tool use is the easiest one. Moreover, associations seem to appear between pantomime of tool use, real tool use and mechanical problem solving. These results suggest that the loss of mechanical knowledge is critical in LBD patients, even if all of those tasks (and particularly pantomime of tool use might put differential demands on semantic memory and working memory.

  10. Hippocampal sclerosis dementia: An amnesic variant of frontotemporal degeneration

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    Chiadi U. Onyike

    Full Text Available ABSTRACT Objective: To describe characteristics of hippocampal sclerosis dementia. Methods: Convenience sample of Hippocampal sclerosis dementia (HSD recruited from the Johns Hopkins University Brain Resource Center. Twenty-four cases with post-mortem pathological diagnosis of hippocampal sclerosis dementia were reviewed for clinical characterization. Results: The cases showed atrophy and neuronal loss localized to the hippocampus, amygdala and entorrhinal cortex. The majority (79.2% had amnesia at illness onset, and many (54.2% showed abnormal conduct and psychiatric disorder. Nearly 42% presented with an amnesic state, and 37.5% presented with amnesia plus abnormal conduct and psychiatric disorder. All eventually developed a behavioral or psychiatric disorder. Disorientation, executive dysfunction, aphasia, agnosia and apraxia were uncommon at onset. Alzheimer disease (AD was the initial clinical diagnosis in 89% and the final clinical diagnosis in 75%. Diagnosis of frontotemporal dementia (FTD was uncommon (seen in 8%. Conclusion: HSD shows pathological characteristics of FTD and clinical features that mimic AD and overlap with FTD. The findings, placed in the context of earlier work, support the proposition that HSD belongs to the FTD family, where it may be identified as an amnesic variant.

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

    Directory of Open Access Journals (Sweden)

    D. Wong

    2013-01-01

    Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

  12. 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

  13. Cerebral Metastasis from a Previously Undiagnosed Appendiceal Adenocarcinoma

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    Antonio Biroli

    2012-01-01

    Full Text Available Brain metastases arise in 10%–40% of all cancer patients. Up to one third of the patients do not have previous cancer history. We report a case of a 67-years-old male patient who presented with confusion, tremor, and apraxia. A brain MRI revealed an isolated right temporal lobe lesion. A thorax-abdomen-pelvis CT scan showed no primary lesion. The patient underwent a craniotomy with gross-total resection. Histopathology revealed an intestinal-type adenocarcinoma. A colonoscopy found no primary lesion, but a PET-CT scan showed elevated FDG uptake in the appendiceal nodule. A right hemicolectomy was performed, and the specimen showed a moderately differentiated mucinous appendiceal adenocarcinoma. Whole brain radiotherapy was administrated. A subsequent thorax-abdomen CT scan revealed multiple lung and hepatic metastasis. Seven months later, the patient died of disease progression. In cases of undiagnosed primary lesions, patients present in better general condition, but overall survival does not change. Eventual identification of the primary tumor does not affect survival. PET/CT might be a helpful tool in detecting lesions of the appendiceal region. To the best of our knowledge, such a case was never reported in the literature, and an appendiceal malignancy should be suspected in patients with brain metastasis from an undiagnosed primary tumor.

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

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    P. G. Gómez

    2011-07-01

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

  15. Pediatric Balint's Syndrome Variant: A Possible Diagnosis in Children

    Science.gov (United States)

    Mani, Sunithi Elizabeth; Dutton, Gordon N.

    2016-01-01

    Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7.4 years, [range 4−11 years]; birth weight ≤ 2.5 kg; four were born ≤ 36 weeks of gestational age and one at 40 weeks) who presented to the Cerebral Visual Impairment Clinic at a tertiary care center in South India with clinical features remarkably consistent with the above description. In all children neuroimaging showed bilateral parietooccipital gliosis with regional white matter volume loss and focal callosal thinning, consistent with perinatal hypoxic ischemic encephalopathy and possible neonatal hypoglycemia. PMID:27895948

  16. Developmental coordination disorders: state of art.

    Science.gov (United States)

    Vaivre-Douret, L

    2014-01-01

    In the literature, descriptions of children with motor coordination difficulties and clumsy movements have been discussed since the early 1900s. According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), it is a marked impairment in the development of fine or global motor coordination, affecting 6% of school-age children. All these children are characterized for developmental coordination disorder (DCD) in motor learning and new motor skill acquisition, in contrast to adult apraxia which is a disorder in the execution of already learned movements. No consensus has been established about etiology of DCD. Intragroup approach through factor and cluster analysis highlights that motor impairment in DCD children varies both in severity and nature. Indeed, most studies have used screening measures of performance on some developmental milestones derived from global motor tests. A few studies have investigated different functions together with standardized assessments, such as neuromuscular tone and soft signs, qualitative and quantitative measures related to gross and fine motor coordination and the specific difficulties -academic, language, gnosic, visual motor/visual-perceptual, and attentional/executive- n order to allow a better identification of DCD subtypes with diagnostic criteria and to provide an understanding of the mechanisms and of the cerebral involvement.

  17. Neuromotor speech impairment: it's all in the talking.

    Science.gov (United States)

    Ziegler, Wolfram; Ackermann, Hermann

    2013-01-01

    The aim of this article is to explicate the uniqueness of the motor activity implied in spoken language production and to emphasize how important it is, from a theoretical and a clinical perspective, to consider the motor events associated with speaking as domain-specific, i.e., as pertaining to the domain of linguistic expression. First, phylogenetic data are reviewed demonstrating the specificity of the human vocal tract motor network regarding (i) the entrenchment of laryngeal motor skills within the organization of vocal tract movements, (ii) the evolution of a neural basis for skill acquisition within this system, and (iii) the integration of this system into an auditory-motor network. Second, ontogenetic evidence and existing knowledge about the experience-dependent plasticity of the brain are reported to explicate that during speech acquisition the vocal tract motor system is constrained by universal properties of speech production and by the specific phonological properties of the speaker's ambient language. Third, clinical data from dysarthria and apraxia of speech provide the background for a discussion about the theoretical underpinnings of domain-general versus domain-specific views of speech motor control. The article ends with a brief sketch of a holistic neurophonetic approach in experimental inquiries, assessment, and treatment of neuromotor speech impairment.

  18. 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.

  19. 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.

  20. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

    Science.gov (United States)

    Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria

    2016-01-01

    Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS. PMID:26932191

  1. [Corticobasal syndrome: recent advances and future directions].

    Science.gov (United States)

    Aiba, Ikuko

    2012-04-01

    Corticobasal degeneration (CBD) is a progressive neurodegenerative disorder described by Rebeiz et al. It is characterized by progressive, asymmetric, cortical (eg, apraxia, alien limb phenomena, cortical sensory loss, and myoclonus), and extrapyramidal (eg, rigidity, bradykinesia, dystonia, and tremor) dysfunction. However, CBD has many clinical phenotypes, and the features used for predicting CBD have low sensitivity. Therefore, the term corticobasal syndrome (CBS) has been used to characterize such clinical features, whereas the term CBD is used to refer to the pathological disorder. The most frequent causes of CBS are CBD, followed by Alzheimer's disease, progressive supranuclear palsy, frontotemporal lobar degeneration with TDP-43 pathology (sporadic and familial), Pick's disease, Lewy body disease, frontotemporal lobar degeneration with fused in sarcoma-positive inclusions, Creutzfeldt-Jakob disease, and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes. The topography of neurodegeneration dictates the clinical syndrome not according to the underlying pathology. Researchers have attempted to develop fluid biomarkers or imaging analysis for diagnosing CBS. The aim of this review was to highlight recent advances in CBS diagnosis and discuss future directions.

  2. Park Play: a picture description task for assessing childhood motor speech disorders.

    Science.gov (United States)

    Patel, Rupal; Connaghan, Kathryn

    2014-08-01

    The purpose of this study was to develop a picture description task for eliciting connected speech from children with motor speech disorders. The Park Play scene is a child-friendly picture description task aimed at augmenting current assessment protocols for childhood motor speech disorders. The design process included a literature review to: (1) establish optimal design features for child assessment, (2) identify a set of evidence-based speech targets specifically tailored to tax the motor speech system, and (3) enhance current assessment tools. To establish proof of concept, five children (ages 4;3-11;1) with dysarthria or childhood apraxia of speech were audio-recorded while describing the Park Play scene. Feedback from the feasibility test informed iterative design modifications. Descriptive, segmental, and prosodic analyses revealed the task was effective in eliciting desired targets in a connected speech sample, thereby yielding additional information beyond the syllables, words, and sentences generally elicited through imitation during the traditional motor speech examination. Further discussion includes approaches to adapt the task for a variety of clinical needs.

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

    Science.gov (United States)

    Kunz, Miriam; Mylius, Veit; Schepelmann, Karsten; Lautenbacher, Stefan

    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 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.

  4. 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.

  5. Cognitive training for patients with dementia living in a sicilian nursing home: a novel web-based approach.

    Science.gov (United States)

    De Luca, Rosaria; Bramanti, Alessia; De Cola, Maria Cristina; Leonardi, Simona; Torrisi, Michele; Aragona, Bianca; Trifiletti, Antonino; Ferrara, Maria Danilo; Amante, Piero; Casella, Carmela; Bramanti, Placido; Calabrò, Rocco Salvatore

    2016-10-01

    Dementia is an increasing challenge for health care and social system in developed countries. Interventions with a cognitive focus, also using assistive technology, are leading to promising results in improving cognitive and behavior symptoms in individuals with dementia. Aim of our study was to evaluate the combined effects of the standard cognitive training in addition to web-based rehabilitation in dementia people living in a nursing home. We have studied twenty dementia people (10 females and 10 males) with a mild to moderate cognitive decline (MMSE 25 ± 3.4) associated to moderate behavioral alterations, and mainly due to vascular causes. These patients were randomly assigned to one of two groups (experimental or standard treatment-namely the control group). All participants in the experimental group completed the specific training, consisting of 24 sessions of web-based cognitive training, for 8 weeks, in addition to standard rehabilitation. Each participant was evaluated by a skilled neuropsychologist before and after each treatment. The experimental group had a statistically significant change of the Geriatric Depression Scale (p = 0.03), Constructive Apraxia (p Web-based cognitive rehabilitation can be useful in improving cognitive performance, besides psychological well-being, in demented individuals living in home care.

  6. A systems perspective on the effective connectivity of overt speech production.

    Science.gov (United States)

    Eickhoff, Simon B; Heim, Stefan; Zilles, Karl; Amunts, Katrin

    2009-06-13

    The aim of this study was to provide a computational system model of effective connectivity in the human brain underlying overt speech production. Meta-analysis of neuroimaging studies and functional magnetic resonance imaging data acquired during a verbal fluency task revealed a core network consisting of Brodmann's area (BA) 44 in Broca's region, anterior insula, basal ganglia, cerebellum, premotor cortex (PMC, BA 6) and primary motor cortex (M1, areas 4a/4p). Dynamic causal modelling (DCM) indicated the highest evidence for a system architecture featuring the insula in a serial position between BA 44 and two parallel nodes (cerebellum/basal ganglia), from which information converges onto the PMC and finally M1. Parameter inference revealed that effective connectivity from the insular relay into the cerebellum/basal ganglia is primarily task driven (preparation) while the output into the cortical motor system strongly depends on the actual word production rate (execution). DCM hence allowed not only a quantitative characterization of the human speech production network, but also the distinction of a preparatory and an executive subsystem within it. The proposed model of physiological integration during speech production may now serve as a reference for investigations into the neurobiology of pathological states such as dysarthria and apraxia of speech.

  7. [Music therapy for dementia and higher cognitive dysfunction: a review].

    Science.gov (United States)

    Satoh, Masayuki

    2011-12-01

    Music is known to affect the human mind and body. Music therapy utilizes the effects of music for medical purposes. The history of music therapy is quite long, but only limited evidence supports its usefulness in the treatment of higher cognitive dysfunction. As for dementia, some studies conclude that music therapy is effective for preventing cognitive deterioration and the occurrence of behavioral and psychological symptoms of dementia (BPSD). In patients receiving music therapy for the treatment of higher cognitive dysfunction, aphasia was reported as the most common symptom. Many studies have been conducted to determine whether singing can improve aphasic symptoms: singing familiar and/or unfamiliar songs did not show any positive effect on aphasia. Melodic intonation therapy (MIT) is a method that utilizes melody and rhythm to improve speech output. MIT is a method that is known to have positive effects on aphasic patients. Some studies of music therapy for patients with unilateral spatial neglect; apraxia; hemiparesis; and walking disturbances, including parkinsonian gait, are available in the literature. Studies showed that the symptoms of unilateral spatial neglect and hemiparesis significantly improved when musical instruments were played for several months as a part of the music therapy. Here, I describe my study in which mental singing showed a positive effect on parkinsonian gait. Music is interesting, and every patient can go through training without any pain. Future studies need to be conducted to establish evidence of the positive effects of music therapy on neurological and neuropsychological symptoms.

  8. 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.

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

    Science.gov (United States)

    Osiurak, François

    2014-06-01

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

  10. Ataxia-telangiectasia. (Clinical and immunological aspects).

    Science.gov (United States)

    Boder, E; Sedgwick, R P

    1970-01-01

    This syndrome was defined by the authors in 1947. Earlier publications of similar disease descriptions were by Syllaba and Henner (1926), Louis-Bar (1941). The authors at present have a stock of 253 cases. The cardinal symptoms of this phakomatosis are: Cerebellar ataxia which begin in infancy and take a slowly progressive course. In the late stages free walking and standing are no longer possible. Progressive atactic speech disorders, cerebellar atrophy in the pneumoencephalogram. Slowly progressing symmetrical skin and mucosal telangiectasia in the face and especially on the conjunctivae at the age of 3 to 6 years. Relapsing sinopulmonary infections with a tendency toward the development of bronchiectases. Apraxia of eye movements. Atrophy of facial skin and premature graying of hair. Recessively hereditary disorder with a high familial manifestation. This syndrome combines the spinocerebellar degeneration, phakomatoses, and infantile dementia processes. Such other conditions as abnormity or absence of thymus, reduction in gamma globulins, amino-aciduria, autosomal-recessive inheritance suggest a genetically determined "error of metabolism".

  11. Ludwig Edinger (1855-1918): founder of modern neuroanatomy.

    Science.gov (United States)

    Prithishkumar, Ivan James

    2012-03-01

    Ludwig Edinger, a German neurologist is considered as one of the founders of modern neuroanatomy. He was conferred the degree of Doctor of Medicine at the University of Strassburg. His observation of small living organisms under a microscope at an early age led him to study medicine. Edinger had many discoveries to his credit. He was the first to describe the ventral and dorsal spinocerebellar tracts, to distinguish between paleo-encephalon and neo-encephalon, and between paleo-cerebellum and neo-cerebellum. He coined the terms "gnosis" and "praxis," which were later adopted in psychological descriptions of agnosia and apraxia. He identified the Edinger-Westphal nucleus in 1885 and was the first to describe the syndrome of thalamic pain. Edinger worked with renowned clinicians and published a large number of papers. He founded the Neurological Institute at the Goethe University in Frankfurt, which is the oldest neurological Institute in Germany. Edinger was a rare combination of a profound scientist, a brilliant teacher, a fine artist, and a noted hypnotist. While at the height of his career, he underwent a surgery and died a few hours later. It was his last will that his brain should be dissected in his own institute. It showed extraordinarily well-developed occipital lobes as well as other unusual features.

  12. 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.

  13. Sign language aphasia from a neurodegenerative disease.

    Science.gov (United States)

    Falchook, Adam D; Mayberry, Rachel I; Poizner, Howard; Burtis, David Brandon; Doty, Leilani; Heilman, Kenneth M

    2013-01-01

    While Alois Alzheimer recognized the effects of the disease he described on speech and language in his original description of the disease in 1907, the effects of Alzheimer's disease (AD) on language in deaf signers has not previously been reported. We evaluated a 55-year-old right-handed congenitally deaf woman with a 2-year history of progressive memory loss and a deterioration of her ability to communicate in American Sign Language, which she learned at the age of eight. Examination revealed that she had impaired episodic memory as well as marked impairments in the production and comprehension of fingerspelling and grammatically complex sentences. She also had signs of anomia as well as an ideomotor apraxia and visual-spatial dysfunction. This report illustrates the challenges in evaluation of a patient for the presence of degenerative dementia when the person is deaf from birth, uses sign language, and has a late age of primary language acquisition. Although our patient could neither speak nor hear, in many respects her cognitive disorders mirror those of patients with AD who had normally learned to speak.

  14. Melodic intonation therapy: back to basics for future research.

    Science.gov (United States)

    Zumbansen, Anna; Peretz, Isabelle; Hébert, Sylvie

    2014-01-01

    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, therapeutic protocols using singing as a speech facilitation technique are not necessarily MIT. The goal of MIT is to restore propositional speech. The rationale is that patients can learn a new way to speak through singing by using language-capable regions of the right cerebral hemisphere. Eventually, patients are supposed to use this way of speaking permanently but not to sing overtly. We argue that many treatment programs covered in systematic reviews on MIT's efficacy do not match MIT's therapeutic goal and rationale. Critically, we identified two main variations of MIT: the French thérapie mélodique et rythmée (TMR) that trains patients to use singing overtly as a facilitation technique in case of speech struggle and palliative versions of MIT that help patients with the most severe expressive deficits produce a limited set of useful, readymade phrases. Second, we distinguish between the immediate effect of singing on speech production and the long-term effect of the entire program on language recovery. Many results in the MIT literature can be explained by this temporal perspective. 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.

  15. EFNS guidelines on cognitive rehabilitation: report of an EFNS task force.

    Science.gov (United States)

    Cappa, S F; Benke, T; Clarke, S; Rossi, B; Stemmer, B; van Heugten, C M

    2005-09-01

    Disorders of language, spatial perception, attention, memory, calculation and praxis are a frequent consequence of acquired brain damage [in particular, stroke and traumatic brain injury (TBI)] and a major determinant of disability. The rehabilitation of aphasia and, more recently, of other cognitive disorders is an important area of neurological rehabilitation. We report here a review of the available evidence about effectiveness of cognitive rehabilitation. Given the limited number and generally low quality of randomized clinical trials (RCTs) in this area of therapeutic intervention, the Task Force considered, besides the available Cochrane reviews, evidence of lower classes which was critically analysed until a consensus was reached. In particular, we considered evidence from small group or single cases studies including an appropriate statistical evaluation of effect sizes. The general conclusion is that there is evidence to award a grade A, B or C recommendation to some forms of cognitive rehabilitation in patients with neuropsychological deficits in the post-acute stage after a focal brain lesion (stroke, TBI). These include aphasia therapy, rehabilitation of unilateral spatial neglect (ULN), attentional training in the post-acute stage after TBI, the use of electronic memory aids in memory disorders, and the treatment of apraxia with compensatory strategies. There is clearly a need for adequately designed studies in this area, which should take into account specific problems such as patient heterogeneity and treatment standardization.

  16. Assessment of hand after brain damage with the aim of functional surgery.

    Science.gov (United States)

    Romain, M; Benaim, C; Allieu, Y; Pelissier, J; Chammas, M

    1999-01-01

    The semiology of the hand after brain damage is really rich. Its clinical evaluation remains quite difficult and must be integrated in the neuro-orthopedic and cognitive context. Deficiency, neuropsychological, analytic and functional status, must be assessed before any surgical decision aiming the improvement of prehension. Neuropsychological evaluation precise the hemispheric specialization: right hemisphere lesions conduct to unilateral spatial neglect while left hemispherical lesions determine language troubles and gesture impairment (apraxia). The analytical evaluation describes motor and sensitive function and assesses spasticity and pain. Concerning the functional assessment, the Enjalbert's score seems to be the most adapted to the upper limb. The assessment of hand deficiency and its origin is necessary to orientate the surgical decision and includes the Zancolli classification for the fingers and wrist and the House classification for the thumb. These classification used for cerebral palsy seems to be insufficient for all the different situations occurring after brain damage. A new classification is proposed based on 3 parameters: fingers extension, thumb abduction and supination. Surgical decision should be examined only after an adapted rehabilitation program.

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

    Science.gov (United States)

    Cherney, Leora R; van Vuuren, Sarel

    2012-08-01

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

  18. Clinical Utility of Amyloid Imaging in a Complex Case of Corticobasal Syndrome Presenting with Psychiatric Symptoms.

    Science.gov (United States)

    Bensaïdane, M R; M-P, Fortin; Damasse, G; Chenard, M; Dionne, C; Duclos, M; Bouchard, R W; Laforce, R

    2014-11-26

    Clinical indications of amyloid imaging in atypical dementia remain unclear. We report a 68-year-old female without past psychiatric history who was hospitalized for auditory hallucinations and persecutory delusions associated with cognitive and motor deficits. Although psychotic symptoms resolved with antipsychotic treatment, cognitive and motor impairments remained. She further showed severe visuoconstructive and executive deficits, ideomotor apraxia, elements of Gerstmann's syndrome, bilateral agraphesthesia and discrete asymmetric motor deficits. Blood tests were unremarkable. Structural brain imaging revealed diffuse fronto-temporo-parietal atrophy, which was most severe in the parietal regions. Meanwhile, FDG-PET suggested asymmetrical fronto-temporo-parietal hypometabolism, with sparing of the posterior cingulate gyrus. A diagnosis of possible corticobasal syndrome (CBS) was made. Amyloid-PET using the novel tracer NAV4694 was ordered, and revealed significant deposition of fibrillar amyloid (SUVR 2.05). The primary diagnosis was CBS with underlying Alzheimer pathology and treatment with a cholinesterase inhibitor was initiated. Determination of underlying pathological CBS subtype is not simple even when based on extensive investigation including clinical presentation, atrophy patterns on MRI, and regional hypometabolism on FDG-PET. By contrast, amyloid imaging quickly confirmed Alzheimer pathology, and allowed rapid initiation of treatment in this complex case with early psychiatric symptoms. This case study illustrates the clinical utility of amyloid imaging in the setting of atypical cases seen in a tertiary memory clinic.

  19. 帕金森病相关性流涎的研究%Salivation in Parkinson's Disease

    Institute of Scientific and Technical Information of China (English)

    刘立娇; 罗晓光; 任艳; 娄凡; 刘娜; 张熙悫

    2013-01-01

    目的 探讨帕金森病相关性流涎的机制及其临床特点.方法 对帕金森病组和对照组进行帕金森病统一评分量表(UPDRS)、帕金森病唾液分泌临床分级(SCS-PD)、吞咽功能障碍问卷(SDQ)、口面失用和MMSE的问卷调查,并通过唾液腺ECT进行唾液腺功能的定性及半定量分析.结果 帕金森病组(PD)患者存在唾液腺分泌降低,与对照组相比差异有统计学意义(P< 0.05);PD1组和PD2组相比流涎情况差异无统计学意义(P>0.05);帕金森病组SCS-PD评分与SDQ、UPDRS-Ⅰ及UPDRS-Ⅱ评分呈正相关性(P<0.01),与性别,年龄,病程,职业,分期,认知功能,UPDRS-Ⅲ、姿势及口面失用无显著的相关性(P>0.05).结论 帕金森病相关性流涎主要为吞咽功能障碍所致;帕金森病相关性流涎随吞咽功能障碍加重、UPDRS-Ⅰ及UPDRS-Ⅱ评分增高而逐渐加重;与帕金森病的发病密切相关,且可能在清醒时及睡眠时均出现流涎.%Objective Salivation is one of the common clinical manifestations of non-motor symptoms in Parkinson's disease,but there were very few researches about the Parkinson's disease related salivation.This paper discusses the mechanism and clinical features of salivation in Parkinson's disease.Methods UPDRS,SCS-PD,SDQ,orofacial apraxia and MMSE are used in Parkinson's disease group and the control group,the salivary gland function is also evaluated through salivary gland imaging for qualitative and semi-quantitative analysis.Results Patients in Parkinson's disease group showed decreased salivary secretion compared with control group,and the difference was statistically significant (P < 0.05).There was no significant difference between PD1 group and PD2 group in salivation situation (P > 0.05);SCSPD scores was positively correlated with the scores of SDQ,UPDRS-Ⅰ and UPDRS-Ⅱ (P < 0.01),but no significant correlation was observed between SCS-PD scores and the scores of gender

  20. Síndrome de Rett: 50 años de historia de un trastorno aun no bien conocido Rett syndrome: 50 years' history of a still not well known condition

    Directory of Open Access Journals (Sweden)

    Jaime Campos-Castello

    2007-01-01

    Full Text Available Desde que fue descrito por primera vez por Andreas Rett hace 50 años, el síndrome de Rett (SR ha sido objeto de muchas investigaciones, sin embargo continúa siendo un trastorno aún no bien conocido. Presentamos nuestra propia experiencia y una revisión de la literatura sobre el SR. Se trata de un trastorno del neurodesarrollo, dominante ligado a X, que afecta casi siempre a mujeres, la mayoría de los casos de forma esporádica. El diagnóstico de SR debe hacerse en base a la observación clínica. Las principales características son la aparición de un retraso mental, cambios conductuales, estereotipias, pérdida del lenguaje y, sobre todo, del uso propositivo de las manos, aparición de una apraxia de la marcha, presencia de alteraciones de la respiración y, frecuentemente, crisis epilépticas. Los criterios diagnósticos consensuados internacionalmente son aquí revisados. El SR se debe en la mayoría de casos a mutaciones del gen MECP2, si bien una proporción de casos atípicos puede estar causada por mutaciones de CDKL5, particularmente la variante con epilepsia precoz. Sin embargo, los mecanismos patogénicos moleculares no son bien conocidos, así como la relación entre las mutaciones de MECP2 y otros trastornos del desarrollo. Revisamos también los hallazgos de neuroimagen, neuropatológicos y neurobioquímicos descritos en el SR. Respecto al tratamiento, aparte del sintomático, no hay ninguno que se haya mostrado eficaz. Un trabajo reciente abre perspectivas terapéuticas futuras al haber demostrado mediante un modelo animal de ratón la reversión de los síntomas neurológicos mediante la activación de la expresión de MeCP2.Since it was first described by Andrea Rett 50 years ago, Rett syndrome (RS has been the subject of further investigations, nonetheless it continues to be a not well known condition. Our own experience and an updated literature review on RS is presented. RS is a severe dominant X chromosome

  1. Guidelines and quality measures for the diagnosis of optic ataxia

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    Svenja eBorchers

    2013-07-01

    Full Text Available Since the first description of a systematic mis-reaching by Bálint in 1909, a reasonable number of patients showing a similar phenomenology, later termed optic ataxia (OA, has been described. However, there is surprising inconsistency regarding the behavioral measures that are used to detect OA in experimental and clinical reports, if the respective measures are reported at all. A typical screening method, that was presumably used by most researchers and clinicians, reaching for a target object in the peripheral visual space, has never been evaluated. We developed a set of instructions and evaluation criteria for the scoring of a semi-standardized version of this reaching task. We tested 36 healthy participants, a group of 52 acute and chronic stroke patients, and 24 patients suffering from cerebellar ataxia. We found a high interrater reliability and a moderate test-retest reliability comparable to other clinical instruments in the stroke sample. The calculation of cut-off thresholds based on healthy control and cerebellar patient data showed an unexpected high number of false positives in these samples due to individual outliers that made a considerable number of errors in peripheral reaching. This study provides first empirical data from large control and patient groups for a screening procedure that seems to be widely used but rarely explicity reported and prepares the grounds for its use as a standard tool for the description of patients who are included in single case or group studies addressing optic ataxia similar to the use of neglect, extinction, or apraxia screening tools.

  2. Pathology and sensitivity of current clinical criteria in corticobasal syndrome.

    Science.gov (United States)

    Ouchi, Haruka; Toyoshima, Yasuko; Tada, Mari; Oyake, Mutsuo; Aida, Izumi; Tomita, Itsuro; Satoh, Akira; Tsujihata, Mitsuhiro; Takahashi, Hitoshi; Nishizawa, Masatoyo; Shimohata, Takayoshi

    2014-02-01

    The aim of this study was to investigate corticobasal syndrome with respect to underlying pathologies, the ability of current clinical criteria to detect early stages of disease, and symptoms and signs predicting background pathologies. We retrospectively analyzed the clinicopathological findings from patients with corticobasal syndrome. We also analyzed whether those findings fulfilled the diagnostic criteria for corticobasal degeneration (CBD). Finally, we investigated characteristic clinical features that are specific to each background pathology. Of 10 consecutive autopsied patients who had corticobasal syndrome (mean age ± standard deviation, 67.9 ± 9.3 years; male:female ratio, 6:4), three had corticobasal degeneration pathology, three had progressive supranuclear palsy, three had Alzheimer's disease, and one had atypical four-repeat tauopathy. Nine patients fulfilled Mayo criteria, and all 10 patients fulfilled modified Cambridge criteria at the later stage, but only two patients fulfilled either clinical criteria within 2 years of disease onset. Five patients fulfilled the clinical criteria for possible CBD (p-CBD), and one patient fulfilled the clinical research criteria for probable sporadic CBD (cr-CBD) at the later stage. Only two patients fulfilled the criteria for either p-CBD or cr-CBD within 2 years of disease onset. Although we could not find any predictive characteristic clinical features that were specific to CBD pathology, only patients with progressive supranuclear palsy developed apraxia of eyelid opening and cerebellar ataxia. Myoclonus and memory impairment, especially if they appear at an early stage of the disease, may predict Alzheimer's disease pathology. Sensitivity of the available clinical criteria for corticobasal syndrome was poor within 2 years of disease onset.

  3. The Psychologic Treatment of the Hemiplegic Upper Limb%上肢偏瘫者康复治疗中的心理问题

    Institute of Scientific and Technical Information of China (English)

    张学斌

    2000-01-01

    偏瘫是许多神经系统疾病常见的功能障碍,偏瘫上肢的预后如何对ADL的恢复与改善和生活质量的高低有着决定性的意义。偏瘫上肢的功能恢复不仅涉及运动功能问题,而且还涉及心理问题,偏瘫上肢的心理问题除涵盖一般偏瘫病人的心理问题外,还因偏瘫上肢的功能障碍特点而有其特殊性。其中主要包括由于偏瘫上肢的运动功能恢复常较下肢缓慢,偏瘫上肢伴发的失认、失用,以及肩-手综合征等引起的心理问题,正确地处理好这些心理问题将有助于偏瘫者整体功能的恢复。%Hemiplegia is the common imparirment caused by many diseases of nerve system.The outcome of the hemiplegic upper limb plays and important role on the improvement of ADL and the level of QOL.The recovery of the hemiplegic upper limb diose not only involve the motional function,but,because of the speciality of its functional impairments,also involves the psychologic problem which mainly includes the slower recovery of he hemiplegic upper limb than the lower one,agnosia,apraxia and shoulder-hand syndrone.A proper treatment to these psychologic problems is helpful to the general recovery of the hemiplegic patients.

  4. [Psychopathology in children with dyspraxia].

    Science.gov (United States)

    Lemonnier, E

    2010-08-01

    The term "dyspraxia" was coined by Julian de Ajuriaguerra and Mira Stambak in 1964. This clinical term was treated very differently according to which explanatory model was adopted. Nowadays, it is used to refer to developmental coordination disorder in view of its neuro-developmental origin. In any case, the actual clinical situations vary and are often complex. In our opinion, it is first necessary to examine the differential diagnosis: apraxia in children caused by lesions, dysgraphia, simply delayed motor development, non-verbal learning disability syndrome, hemispheric specialisation deficits, pervasive developmental disorders (autisms, Asperger syndrome, atypical autism and other pervasive developmental disorders), mixed specific developmental disorders, multiple developmental disorder, and children with high potential. Next we focus on co-morbidity. Firstly, we look at psychopathological disorders associated with dyspraxia: autism and pervasive developmental disorders, dyscalculia/math disability, dyslexia/reading difficulties, dysphasia accompanied by verbal dyspraxia, intelligence deficiency, anxiety disorders, and attention-deficit hyperactivity disorder (ADHD). Secondly, we examine psychopathological disorders associated with dyspraxia. Children with developmental coordination disorder are less inclined to participate in collective games. As a result, there is a greater risk of them becoming lonely and isolated. They have higher child behaviour checklist (CBCL) scores in the somatic problems scale as well as for anxiety, depression and social withdrawal. They have low self-perception in sports as well as at school, which is related to their physical appearance and their self-esteem, attention deficit and externalized behaviour. These children are often at risk of academic failure and they suffer from oppositional defiant disorder and functional disorders. And finally, we believe that it is important to touch on the impact of these disorders on the family.

  5. VALIDEZ DE LA CONEXIÓN INTERLEXICA ASEMÁNTICA EN EL MODELO COGNITIVO DE PROCESAMIENTO DE PRAXIAS

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    P. G. Gómez

    2011-01-01

    Full Text Available González Rothi et al. (1991, 1997 postularon un modelo cognitivo de praxias, sobre el que fueron propuestas modificaciones (Cubelli et al., 2000, entre ellas la supresión de la vía directa entre el praxicón de entrada y el praxicón de salida. Se planteó que para validar una vía interlexica asemántica (Cubelli et al., 2000, sería suficiente el hallazgo de un paciente con habilidad conservada de imitar gestos familiares, pero con alteraciones en la capacidad de acceder al significado de gestos familiares y alteraciones en la habilidad de imitar gestos no familiares. El objetivo de este trabajo es presentar dos pacientes cuyos patrones de rendimiento práxico apoyan la existencia de una vía interlexical asemántica.Se evaluó a 2 pacientes con diagnóstico de demencia tipo Alzheimer probable con una batería de evaluación cognitiva de apraxias (Politis 2003. Ambos pacientes evidencian alteraciones en la prueba de imitación de gestos no familiares y en las tareas que evalúan semántica de la acción (apareamiento objeto-herramienta y denominación por función, con buen rendimiento en la tarea de la imitación de gestos familiares. Tomando como base los modelos cognitivos de praxias de González Rothi et al. (1991, 1997 y Cubelli et al. (2000 es necesaria una conexión directa entre el praxicón de entrada y el praxicón de salida para explicar el rendimiento de estos pacientes. De este modo, el patrón de rendimiento que muestran ambos pacientes confirmaría la existencia de una vía interléxica asemántica.

  6. Distinct contribution of the parietal and temporal cortex to hand configuration and contextual judgements about tools.

    Science.gov (United States)

    Andres, Michael; Pelgrims, Barbara; Olivier, Etienne

    2013-09-01

    Neuropsychological studies showed that manipulatory and semantic knowledge can be independently impaired in patients with upper-limb apraxia, leading to different tool use disorders. The present study aimed to dissociate the brain regions involved in judging the hand configuration or the context associated to tool use. We focussed on the left supramarginalis gyrus (SMG) and left middle temporal gyrus (MTG), whose activation, as evidenced by functional magnetic resonance imaging (fMRI) studies, suggests that they may play a critical role in tool use. The distinctive location of SMG in the dorsal visual stream led us to postulate that this parietal region could play a role in processing incoming information about tools to shape hand posture. In contrast, we hypothesized that MTG, because of its interconnections with several cortical areas involved in semantic memory, could contribute to retrieving semantic information necessary to create a contextual representation of tool use. To test these hypotheses, we used neuronavigated transcranial magnetic stimulation (TMS) to interfere transiently with the function of either left SMG or left MTG in healthy participants performing judgement tasks about either hand configuration or context of tool use. We found that SMG virtual lesions impaired hand configuration but not contextual judgements, whereas MTG lesions selectively interfered with judgements about the context of tool use while leaving hand configuration judgements unaffected. This double dissociation demonstrates that the ability to infer a context of use or a hand posture from tool perception relies on distinct processes, performed in the temporal and parietal regions. The present findings suggest that tool use disorders caused by SMG lesions will be characterized by difficulties in selecting the appropriate hand posture for tool use, whereas MTG lesions will yield difficulties in using tools in the appropriate context.

  7. 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.

  8. 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

  9. Tc-99m-bicisate (ECD)-brain-SPECT in rapidly progressive dementia; Hirn-SPECT mit Tc-99m-Bicisat (ECD) bei rasch progredientem dementiellen Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Marienhagen, J.; Eilles, C. [Regensburg Univ. (Germany). Abt. fuer Nuklearmedizin; Weingaertner, U.; Blaha, L. [Bezirkskrankenhaus Mainkofen (Germany). Psychiatrische Klinik; Zerr, I.; Poser, S. [Goettingen Univ. (Germany). Klinik und Poliklinik fuer Neurologie

    1999-07-01

    We present a 61-year-old male patient with progressive dementia. A brain SPECT with Tc-99m-bicisate was performed for confirmation of clinically suspected Alzheimer-dementia. At the time of the SPECT-investigation marked apraxia and aphasia besides severe dementia were present. Electrophysiological as well as anatomical neuroimaging findings showed non-diagnostic alterations. SPECT revealed distinct perfusion defects, which made Alzheimer Dementia unlikely. The further course of the patient was determined by rapidly progressive deterioration with development of akinetic mutism. Thereafter, increased levels of neuron-specific enolase as well as 14-3-3 proteins were found in the cerebro-spinal fluid (CSF). The patient finally died with signs of cerebral decortication. Due to the clinical course and the CSF-findings the patient's final diagnosis was Creutzfeld-Jakob-disease, nevertheless no autopsy was performed. The presented case report underscores the clinical utility of perfusion brain SPECT in the differential diagnosis of dementias. (orig.) [German] Wir berichten ueber einen 61jaehrigen Patienten mit progredientem dementiellen Syndrom, der unter der Verdachtsdiagnose einer Demenz vom Alzheimer-Typ (DAT) zur Hirn-SPECT-Untersuchung mit TC-99m-Bicisat (ECD) vorgestellt wurde. Zum Untersuchungszeitpunkt bestanden neben dem Vollbild einer Demenz eine ausgepraegte Apraxie und Aphasie bei unspezifischen Veraenderungen im EEG sowie der neuroradiologischen Bildgebung. In der Hirn-SPECT-Untersuchung fanden sich fuer eine DAT untypische ausgedehnte, vorwiegend rechtshemisphaerische Perfusionsstoerungen. Im weiteren Verlauf rasche Progredienz des Krankheitsbildes mit Entwicklung eines akinetischen Mutismus sowie Nachweis erhoehter Werte der neuronspezifischen Enolase und des 14-3-3-Proteins im Liquor. Der Patient verstarb schliesslich unter dem Bild einer Decortication. Aufgrund des klinischen Verlaufs sowie der Liquorbefunde wurde, da eine autoptische Befundsicherung

  10. 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

  11. The interaction of existential concerns and psychoanalytic insights in the treatment of contemporary patients.

    Science.gov (United States)

    Chessick, Richard D

    2009-01-01

    Middle-aged and elderly patients have been shown to respond to psychoanalytic treatment, but they present certain characteristic problems not typical of young patients. I discuss these and offer a brief case presentation followed by a general discussion of the role of existential concerns and of their intertwining with psychoanalytic insights and interpretations in the treatment of older patients from our contemporary culture. The particular case of a relatively mild narcissistic personality disorder is used as an example of the kinds of difficulties contemporary psychoanalysts and psychodynamic psychiatrists run into in the current treatment of the aging patient population. The analyst's beliefs and personality are seen as more important than in classical Freudian psychoanalysis, and deliberate attention to the patient's existential concerns and cultural milieu cannot be avoided. A great deal of correction of what Gedo called "apraxias" is necessary, but I argue that in this situation each person must develop one's self in one's own way and without education and intrusion by the analyst. This self development in the face of one's inevitable future is seen as a vital aspect of contemporary psychoanalytic treatment of aging patients, regardless of which of the five orientation channels (that I have discussed elsewhere) are employed. The patient is seen as dealing both with his or her own infantile neurosis that is interfering with adult functioning and at the same time with universal existential human problems that become increasingly pressing as one ages. I contend that the current biological orientation of psychiatry is insufficient to address these difficulties, regardless of what advances we make in psychopharmacology and neurobiology. An exclusive neurobiological orientation can represent what existentialists label an "inauthentic choice" and a retreat from the spirit of humanism.

  12. Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses.

    Science.gov (United States)

    Kobayashi, Junya; Saito, Yuichiro; Okui, Michiyo; Miwa, Noriko; Komatsu, Kenshi

    2015-04-01

    Ataxia telangiectasia (AT) is caused by a mutation in the ataxia-telangiectasia-mutated (ATM) gene; the condition is associated with hyper-radiosensitivity, abnormal cell-cycle checkpoints, and genomic instability. AT patients also show cerebellar ataxia, possibly due to reactive oxygen species (ROS) sensitivity in neural cells. The ATM protein is a key regulator of the DNA damage response. Recently, several AT-like disorders have been reported. The genes responsible for them are predicted to encode proteins that interact with ATM in the DNA-damage response. Ataxia with oculomotor apraxia types 1-3 (AOA1, 2, and 3) result in a neurodegenerative and cellular phenotype similar to AT; however, the basis of this phenotypic similarity is unclear. Here, we show that the cells of AOA3 patients display aberrant ATM-dependent phosphorylation and apoptosis following γ-irradiation. The ATM-dependent response to H2O2 treatment was abrogated in AOA3 cells. Furthermore, AOA3 cells had reduced ATM activity. Our results suggest that the attenuated ATM-related response is caused by an increase in endogenous ROS in AOA3 cells. Pretreatment of cells with pyocyanin, which induces endogenous ROS production, abolished the ATM-dependent response. Moreover, AOA3 cells had decreased homologous recombination (HR) activity, and pyocyanin pretreatment reduced HR activity in HeLa cells. These results indicate that excess endogenous ROS represses the ATM-dependent cellular response and HR repair in AOA3 cells. Since the ATM-dependent cell-cycle checkpoint is an important block to carcinogenesis, such inactivation of ATM may lead to tumorigenesis as well as neurodegeneration.

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

    Energy Technology Data Exchange (ETDEWEB)

    Karas, Giorgos [Vrije Universiteit Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Scheltens, Philip; Jones, Bethany [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Neurology, Amsterdam (Netherlands); Rombouts, Serge [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Physics and Informatics, Amsterdam (Netherlands); Schijndel, Ronald van [Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Physics and Informatics, Amsterdam (Netherlands); Klein, Martin [Vrije Universiteit Medical Center, Department of Medical Psychology, Amsterdam (Netherlands); Flier, Wiesje van der [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrenken, Hugo [Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Barkhof, Frederik [Vrije Universiteit Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands)

    2007-12-15

    Alzheimer's disease (AD) usually first presents in elderly patients, but may also develop at an earlier age. Patients with an early age at onset tend to present with complaints other than memory impairment, such as visuospatial problems or apraxia, which may reflect a different distribution of cortical involvement. In this study we set out to investigate whether age at onset in patients with AD determines the pattern of atrophy on cerebral MRI scans. We examined 55 patients with AD over a wide age range and analyzed their 3-D T1-weighted structural MRI scans in standard space using voxel-based morphometry (VBM). Regression analysis was performed to estimate loss of grey matter as a function of age, corrected for mini-mental state examination (MMSE) scores and sex. The VBM analyses identified multiple areas (including the temporal and parietal lobes), showing more atrophy with advancing age. By contrast, a younger age at onset was found to be associated with lower grey matter density in the precuneus. Regionalized volumetric analysis of this region confirmed the existence of disproportionate atrophy in the precuneus in patients with early-onset AD. Application of a multivariate model with precuneus grey matter density as input, showed that precuneal and hippocampal atrophy are independent from each other. Additionally, we found that a smaller precuneus is associated with impaired visuospatial functioning. Our findings support the notion that age at onset modulates the distribution of cortical involvement, and that disproportionate precuneus atrophy is more prominent in patients with a younger age of onset. (orig.)

  14. The time course of neurolinguistic and neuropsychological symptoms in three cases of logopenic primary progressive aphasia.

    Science.gov (United States)

    Etcheverry, Louise; Seidel, Barbara; Grande, Marion; Schulte, Stephanie; Pieperhoff, Peter; Südmeyer, Martin; Minnerop, Martina; Binkofski, Ferdinand; Huber, Walter; Grodzinsky, Yosef; Amunts, Katrin; Heim, Stefan

    2012-06-01

    Primary progressive aphasia (PPA) is a rare clinical dementia syndrome affecting predominantly language abilities. Word-finding difficulties and comprehension deficits despite relatively preserved cognitive functions are characteristic symptoms during the first two years, and distinguish PPA from other dementia types like Alzheimer's disease. However, the dynamics of changes in language and non-linguistic abilities are not well understood. Most studies on progression used cross-sectional designs, which provide only limited insight into the course of the disease. Here we report the results of a longitudinal study in three cases of logopenic PPA over a period of 18 months, with exemplary longitudinal data from one patient even over 46 months. A comprehensive battery of neurolinguistic and neuropsychological tests was applied four times at intervals of six months. Over this period, deterioration of verbal abilities such as picture naming, story retelling, and semantic word recall was found, and the individual decline was quantified and compared between the three patients. Furthermore, decrease in non-verbal skills such as divided attention and increasing apraxia was observed in all three patients. In addition, inter-subject variability in the progression with different focuses was observed, with one patient developing a non-fluent PPA variant. The longitudinal, multivariate investigation of logopenic PPA thus provides novel insights into the progressive deterioration of verbal as well as non-verbal abilities. These deficits may further interact and thus form a multi-causal basis for the patients' problems in every-day life which need to be considered when planning individually targeted intervention in PPA.

  15. [Transcortical aphasia and echolalia; problems of speech initiative].

    Science.gov (United States)

    Környey, E

    1975-05-01

    Transcortical aphasia accompanied by echolalia occurs with malacias involving the postero-median part of the frontal lobe which includes the supplementary motor field of Penfield and is nourished by the anterior cerebral artery. The syndrome manifests itself in such cases even in fine detials in the same form as does in Pick's atrophy. The same also holds true for cases in which a tumour involves the region mentioned. Sentences or fragments of sentences are echolalised; tendency to perseveration is very marked. It is hardly, if at all, possible to evaluate the verbal understanding of these patients. Analysis of their behaviour supports the assumption that they have not lost the adaptation to some situations. Echolalia is often associated with forced grasping and other compulsory phenomena. Therefore, it may be interpreted as a sign of disinhibition of the acusticomotor reflex present during the development of the speech. Competition between the intentionality and the appearance of compulsory phenomena greatly depends on the general condition of the patient, particularly on the clarity of consciousness. The integrity of the postero-median part of the frontal lobe is indespensable for a normal reaction by speech to stimuli received from the sensory areas. The influence of the supplementary motor field on speech intention seems to be linked to the dominant hemisphere. In case lesions of the territory of the anterior cerebral artery and the cortico-bulbar neuron system are coexisting in the dominant hemisphere, the speech disturbance shifts to complete motor aphasia. In such cases the pathomechanism is analogous to that of the syndrome of Liepmann, i.e., right-sided hemiparesis with left-sided apraxia. So-called transcortical motor aphasia without echolalia can be caused by loss of stimuli from the sensory fields.

  16. Clinical application of RapidArc volumetric modulated arc therapy as a component in whole brain radiation therapy for poor prognostic, four or more multiple brain metastases

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Heon; Lee, Kyu Chan; Choi, Jin Ho; Kim, Hye Young; Lee, Seok Ho; Sung, Ki Hoon; Kim, Yun Mi [Gachon University Gil Hospital, Incheon (Korea, Republic of)

    2012-06-15

    To determine feasibility of RapidArc in sequential or simultaneous integrated tumor boost in whole brain radiation therapy (WBRT) for poor prognostic patients with four or more brain metastases. Nine patients with multiple ({>=}4) brain metastases were analyzed. Three patients were classified as class II in recursive partitioning analysis and 6 were class III. The class III patients presented with hemiparesis, cognitive deficit, or apraxia. The ratio of tumor to whole brain volume was 0.8-7.9%. Six patients received 2-dimensional bilateral WBRT, (30 Gy/10- 12 fractions), followed by sequential RapidArc tumor boost (15-30 Gy/4-10 fractions). Three patients received RapidArc WBRT with simultaneous integrated boost to tumors (48-50 Gy) in 10-20 fractions. The median biologically effective dose to metastatic tumors was 68.1 Gy10 and 67.2 Gy10 and the median brain volume irradiated more than 100 Gy3 were 1.9% (24 cm3) and 0.8% (13 cm3) for each group. With less than 3 minutes of treatment time, RapidArc was easily applied to the patients with poor performance status. The follow-up period was 0.3-16.5 months. Tumor responses among the 6 patients who underwent follow-up magnetic resonance imaging were partial and stable in 3 and 3, respectively. Overall survival at 6 and 12 months were 66.7% and 41.7%, respectively. The local progression-free survival at 6 and 12 months were 100% and 62.5%, respectively. RapidArc as a component in whole brain radiation therapy for poor prognostic, multiple brain metastases is an effective and safe modality with easy application.

  17. Hidrocefalia normotensa. Presentación de un caso

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    María Octavina Rodríguez Roque

    2017-02-01

    Full Text Available La hidrocefalia normotensa, también conocida como hidrocefalia crónica del adulto, se produce habitualmente en personas mayores debido a un aumento de líquido cefalorraquídeo en las cavidades cerebrales, sin que por lo general se produzca un aumento de la presión intracraneal, pero que puede llegar a dañar el cerebro. Por tales razones se presenta el caso de una paciente de 67 años de edad, mestiza, casada, fumadora inveterada que comenzó a sufrir caídas frecuentes sin causa aparente, apraxia a la marcha, trastornos esfinterianos y perseverancia. Luego de visitar varias especialidades durante un periodo de cuatro años, sin encontrar diagnóstico, acudió a consulta de neurología refiriendo empeoramiento de los trastornos de la marcha, trastornos esfinterianos y caídas muy frecuentes. Se inició protocolo de investigación por sospecha clínica de hidrocefalia normotensa, que fue constatada por tomografía axial computarizada simple de cráneo, mediante la que se observó dilatación del tercer ventrículo sin visualizar el cuarto, con circunvoluciones y surcos borrados. Mediante resonancia magnética nuclear se comprobó la hidrocefalia. Se realizó ingreso con tratamiento médico y quirúrgico. Se seleccionó la válvula adecuada en base a las características hidrodinámicas del sistema derivativo. Se logró la corrección de la hidrocelafia normotensa. Esta presentación tiene por objetivo actualizar los aspectos clínicos, diagnósticos y terapéuticos de esta entidad gnoseológica.

  18. 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.

  19. 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

  20. Post-stroke writing and reading disorders

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    Sinanović Osman

    2013-03-01

    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 or visual 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 sole disability 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 agraphia, or

  1. 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.

  2. [A case report of early-onset Alzheimer's disease with multiple psychotic symptoms, finally diagnosed as APPV717I mutation by genetic testing].

    Science.gov (United States)

    Ishimaru, Takashi; Ochi, Shinichiro; Matsumoto, Teruhisa; Yoshida, Taku; Abe, Masao; Toyota, Yasutaka; Fukuhara, Ryuji; Tanimukai, Satoshi; Ueno, Shu-ichi

    2013-01-01

    It is difficult to confirm a diagnosis of early-onset Alzheimer's disease (EOAD) because patients sometimes have non-specific cortical features, such as psychiatric symptoms, executive functional impairment, and pyramidal symptoms, along with typical symptoms, such as recent memory impairment and disorientation. We encountered a patient with multiple psychotic symptoms, finally diagnosed with EOAD on genetic testing. A right-handed sixty-year-old man, whose mother was suspected of having dementia, developed memory impairment at the age of fifty, disorientation at the age of fifty-six, and both visual hallucination and dressing apraxia at the age of fifty-nine. After admission to a psychiatric hospital for treatment, his symptoms disappeared with antipsychotic medication. However, his ADL were declining and so he was referred to our university hospital. He had frontal lobe symptoms, pyramidal signs, and extrapyramidal signs with severe dementia. Neuropsychological examinations were not possible because of sedation. On brain MRI, he showed diffuse atrophy of the cerebral cortex and hippocampus. HMPO-SPECT showed hypoperfusion of cerebral cortices diffusely. We decided to perform genetic testing because he had both family and alcohol abuse histories. He showed EOAD with V717I mutation of the amyloid precursor protein gene. After the discontinuation of antipsychotics, excessive sedation and extrapyramidal signs disappeared. A dose of 10 mg of donepezil was effective to improve motivation and activity, and his mini mental examination score was calculable after recovery. The case supports usefulness of applying genetic testing for Alzheimer's disease to patients with early onset dementia, even when they do not have a family history.

  3. Creatine transporter deficiency: Novel mutations and functional studies

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    O. Ardon

    2016-09-01

    Full Text Available 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.

  4. 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

  5. EVALUATION OF THE LANGUAGE COMMUNICATIONAL SKILLS OF PERSONS WITH BROCA’S APHASIA AS A CONCOMITANCE FROM CEREBROVASCULAR INSULT

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    Ilija TODOROV

    2011-04-01

    Full Text Available Persons with Broca’s aphasia socialize in societymuch faster, because of the early rehabilitationtreatment using the speech therapy. In thebeginning of the illness, the voice production isarduous and the speech is with variable prosody.The patient expresses himself exceptionally withnouns and working verbs, also using mimics andgestures.The main purpose of the research is the evaluationof the communicational language skills of personswith Broca’s aphasia, even in the acuteness of theillness. The goal is also to examine and establishthe opinion of persons with Broca’s aphasia, theirfamily members and medical staff regarding theuse of early rehabilitation treatment with speechtherapy.The basic tasks of this research are to determinewhether the disturbance of verbal interaction isoften followed with speech apraxia andagrammatism among the persons suffering fromBroca’s aphasia. Two types of examinees areincluded in the research. The survey was conductedin Skopje and in a period of three months.The data gained from the research are grouped,tabulated, processed and graphically shownusing the program Microsoft Office Excel 2003.The differecnces in the data of the examinees isanalyzed with Chi square test with level of significanceр<0.05. From the analyzis and interpretationof the results we can see that personswith Broca’s aphasia, although produce incompletesentences, they verbalise sentences withcontent which are informative for their interlocutorand the auditory understending is less demagedthan the expressive funcion of the speech.In conclusion, the study found that earlyrehabilitation treatment using speech therapyfor persons with Broca’s aphasia resulted infaster improvements and better capabilities forspeech-language communicational skills.

  6. DISTURBIOS PRAXICOS EN LESIONES FOCALES DE LOS HEMISFERIOS CEREBRALES

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    Jorge Murillo Duran

    2007-01-01

    Full Text Available El propósito de este trabajo es analizar la dificultad paraxial, es decir, los desórdenes funcionales en el movimiento resultado de lesiones cerebrales del tejido fino. De acuerdo con la literatura sobre la materia, se ha aceptado la definición de la apraxia como la inhabilidad en ejecutar correctamente tareas cinéticas, sin la debilitación o la pérdida de motricidad o de funciones sensoriales o la ataxia como condicionante de tal inhabilidad". La "ejecución apropiada" utilizada en esta definición considera no solamente el efecto de la acción, también los medios de su realización. Las "tareas cinéticas" significan todos los aspectos de la actividad motora definidos por las instrucciones, independientes del tipo de instrucción (verbal o los gestos, y sin importar si lograron el efecto final imitando el movimiento del investigador o si fueron realizadas independientemente. La metodología se ha basado en principio en los trabajos de A.R.Luria.. Las discusiones fueron basadas en los resultados de la investigación que comprendían a 90 pacientes con lesiones cerebrales focales. En cincuenta casos, los cambios fueron localizados en el hemisferio cerebral izquierdo, en cuarenta casos en el hemisferio derecho. Los resultados alcanzaron permiten formar la opinión que no todas las pruebas generalmente aceptadas que investigan praxia en personas con lesiones cerebrales son solucionadas favorablemente por individuos sanos; así, una ejecución deficiente no se debe mirar siempre como muestra del funcionamiento patológico del tejido fino cerebral como resultado de la lesión.

  7. 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.

  8. Structural and functional integration between dorsal and ventral language streams as revealed by blunt dissection and direct electrical stimulation.

    Science.gov (United States)

    Sarubbo, Silvio; De Benedictis, Alessandro; Merler, Stefano; Mandonnet, Emmanuel; Barbareschi, Mattia; Dallabona, Monica; Chioffi, Franco; Duffau, Hugues

    2016-11-01

    The most accepted framework of language processing includes a dorsal phonological and a ventral semantic pathway, connecting a wide network of distributed cortical hubs. However, the cortico-subcortical connectivity and the reciprocal anatomical relationships of this dual-stream system are not completely clarified. We performed an original blunt microdissection of 10 hemispheres with the exposition of locoregional short fibers and six long-range fascicles involved in language elaboration. Special attention was addressed to the analysis of termination sites and anatomical relationships between long- and short-range fascicles. We correlated these anatomical findings with a topographical analysis of 93 functional responses located at the terminal sites of the language bundles, collected by direct electrical stimulation in 108 right-handers. The locations of phonological and semantic paraphasias, verbal apraxia, speech arrest, pure anomia, and alexia were statistically analyzed, and the respective barycenters were computed in the MNI space. We found that terminations of main language bundles and functional responses have a wider distribution in respect to the classical definition of language territories. Our analysis showed that dorsal and ventral streams have a similar anatomical layer organization. These pathways are parallel and relatively segregated over their subcortical course while their terminal fibers are strictly overlapped at the cortical level. Finally, the anatomical features of the U-fibers suggested a role of locoregional integration between the phonological, semantic, and executive subnetworks of language, in particular within the inferoventral frontal lobe and the temporoparietal junction, which revealed to be the main criss-cross regions between the dorsal and ventral pathways. Hum Brain Mapp 37:3858-3872, 2016. © 2016 Wiley Periodicals, Inc.

  9. Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.

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    Craig L Bennett

    Full Text Available Senataxin is a large 303 kDa protein linked to neuron survival, as recessive mutations cause Ataxia with Oculomotor Apraxia type 2 (AOA2, and dominant mutations cause amyotrophic lateral sclerosis type 4 (ALS4. Senataxin contains an amino-terminal protein-interaction domain and a carboxy-terminal DNA/RNA helicase domain. In this study, we focused upon the common ALS4 mutation, L389S, by performing yeast two-hybrid screens of a human brain expression library with control senataxin or L389S senataxin as bait. Interacting clones identified from the two screens were collated, and redundant hits and false positives subtracted to yield a set of 13 protein interactors. Among these hits, we discovered a highly specific and reproducible interaction of L389S senataxin with a peptide encoded by the antisense sequence of a brain-specific non-coding RNA, known as BCYRN1. We further found that L389S senataxin interacts with other proteins containing regions of conserved homology with the BCYRN1 reverse complement-encoded peptide, suggesting that such aberrant protein interactions may contribute to L389S ALS4 disease pathogenesis. As the yeast two-hybrid screen also demonstrated senataxin self-association, we confirmed senataxin dimerization via its amino-terminal binding domain and determined that the L389S mutation does not abrogate senataxin self-association. Finally, based upon detection of interactions between senataxin and ubiquitin-SUMO pathway modification enzymes, we examined senataxin for the presence of ubiquitin and SUMO monomers, and observed this post-translational modification. Our senataxin protein interaction study reveals a number of features of senataxin biology that shed light on senataxin normal function and likely on senataxin molecular pathology in ALS4.

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

    Science.gov (United States)

    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

  11. Making sense of progressive non-fluent aphasia: an analysis of conversational speech.

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    Knibb, Jonathan A; Woollams, Anna M; Hodges, John R; Patterson, Karalyn

    2009-10-01

    The speech of patients with progressive non-fluent aphasia (PNFA) has often been described clinically, but these descriptions lack support from quantitative data. The clinical classification of the progressive aphasic syndromes is also debated. This study selected 15 patients with progressive aphasia on broad criteria, excluding only those with clear semantic dementia. It aimed to provide a detailed quantitative description of their conversational speech, along with cognitive testing and visual rating of structural brain imaging, and to examine which, if any features were consistently present throughout the group; as well as looking for sub-syndromic associations between these features. A consistent increase in grammatical and speech sound errors and a simplification of spoken syntax relative to age-matched controls were observed, though telegraphic speech was rare; slow speech was common but not universal. Almost all patients showed impairments in picture naming, syntactic comprehension and executive function. The degree to which speech was affected was independent of the severity of the other cognitive deficits. A partial dissociation was also observed between slow speech with simplified grammar on the one hand, and grammatical and speech sound errors on the other. Overlap between these sets of impairments was however, the rule rather than the exception, producing continuous variation within a single consistent syndrome. The distribution of atrophy was remarkably variable, with frontal, temporal and medial temporal areas affected, either symmetrically or asymmetrically. The study suggests that PNFA is a coherent, well-defined syndrome and that varieties such as logopaenic progressive aphasia and progressive apraxia of speech may be seen as points in a space of continuous variation within progressive non-fluent aphasia.

  12. Psychoanatomical substrates of Bálint's syndrome

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    Rizzo, M; Vecera, S

    2002-01-01

    Objectives: From a series of glimpses, we perceive a seamless and richly detailed visual world. Cerebral damage, however, can destroy this illusion. In the case of Bálint's syndrome, the visual world is perceived erratically, as a series of single objects. The goal of this review is to explore a range of psychological and anatomical explanations for this striking visual disorder and to propose new directions for interpreting the findings in Bálint's syndrome and related cerebral disorders of visual processing. Methods: Bálint's syndrome is reviewed in the light of current concepts and methodologies of vision research. Results: The syndrome affects visual perception (causing simultanagnosia/visual disorientation) and visual control of eye and hand movement (causing ocular apraxia and optic ataxia). Although it has been generally construed as a biparietal syndrome causing an inability to see more than one object at a time, other lesions and mechanisms are also possible. Key syndrome components are dissociable and comprise a range of disturbances that overlap the hemineglect syndrome. Inouye's observations in similar cases, beginning in 1900, antedated Bálint's initial report. Because Bálint's syndrome is not common and is difficult to assess with standard clinical tools, the literature is dominated by case reports and confounded by case selection bias, non-uniform application of operational definitions, inadequate study of basic vision, poor lesion localisation, and failure to distinguish between deficits in the acute and chronic phases of recovery. Conclusions: Studies of Bálint's syndrome have provided unique evidence on neural substrates for attention, perception, and visuomotor control. Future studies should address possible underlying psychoanatomical mechanisms at "bottom up" and "top down" levels, and should specifically consider visual working memory and attention (including object based attention) as well as systems for identification of object

  13. Dopaminergic therapy and subthalamic stimulation in Parkinson's disease: a review of 5-year reports.

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    Romito, Luigi M; Albanese, Alberto

    2010-11-01

    The long-term efficacy and safety of deep brain stimulation (DBS) implant for Parkinson's disease (PD) is described in several recent papers. This procedure has been reported to permit a stable reduction of dopaminergic therapy requirements for up to 5 years, although some expectation of deterioration in non-dopaminergic signs has been recently stated. Our aim is to perform a literature-based review of papers available describing long-term post-operative follow-up after a bilateral implant for subthalamic DBS (STN-DBS). Only peer-reviewed published papers with a post-operative follow-up of at least 5 years were considered. Clinical outcome, disease progression and side effects were assessed at baseline and 2 (or 3 years) and 5 years after surgery. Seven papers were included in the review. A total of 238 patients were analyzed. STN-DBS was confirmed to be an effective treatment for selected patients with PD. In all studies, off-related motor symptoms improved dramatically, compared with pre-implant, at 2 (or 3, according to the study) years and this result persisted at 5-year evaluations. Antiparkinsonian drug reductions, improvements in motor fluctuations and dyskinesias, functional measures and the progression of underlying PD were also reported in all series. Some axial scores, in particular postural stability and speech, improved transiently. Persisting adverse effects included eyelid opening apraxia, weight gain, psychiatric disorders, depression, dysarthria, dyskinesias, and apathy. The present review of the 5-year observations confirms that STN-DBS is a powerful method in the management of PD, but its long-term effects must be thoroughly assessed.

  14. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

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    Desbats, Maria Andrea; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo

    2015-01-01

    Coenzyme Q(10) is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidants. Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, and COQ9) cause primary CoQ(10) deficiency, a heterogeneous group of disorders with variable age of onset (from birth to the seventh decade) and associated clinical phenotypes, ranging from a fatal multisystem disease to isolated steroid resistant nephrotic syndrome (SRNS) or isolated central nervous system disease. The pathogenesis is complex and related to the different functions of CoQ(10). It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ(10) deficiency can also be observed in patients with defects unrelated to CoQ(10) biosynthesis, such as RC defects, multiple acyl-CoA dehydrogenase deficiency, and ataxia and oculomotor apraxia.Patients with both primary and secondary deficiencies benefit from high-dose oral supplementation with CoQ(10). In primary forms treatment can stop the progression of both SRNS and encephalopathy, hence the critical importance of a prompt diagnosis. Treatment may be beneficial also for secondary forms, although with less striking results.In this review we will focus on CoQ(10) biosynthesis in humans, on the genetic defects and the specific clinical phenotypes associated with CoQ(10) deficiency, and on the diagnostic strategies for these conditions.

  15. It takes the whole brain to make a cup of coffee: the neuropsychology of naturalistic actions involving technical devices.

    Science.gov (United States)

    Hartmann, Karoline; Goldenberg, Georg; Daumüller, Maike; Hermsdörfer, Joachim

    2005-01-01

    Left hemisphere dominance has been established for use of single familiar tools and tool/object pairs, but everyday action in natural environment frequently affords multi-step actions with more or less novel technical devices. One purpose of our study was to find out whether left hemisphere dominance extends to such naturalistic action. Another aim was to analyze the cognitive components contributing to success or failure. Patients with LBD and aphasia, patients with RBD, and healthy controls were examined on experimental tests assessing retrieval of functional knowledge from semantic memory, inference of function from structure, and solution of mechanical and non-mechanical multi-step problems, and were confronted with two naturalistic tasks involving technical devices: preparing coffee with a drip coffee maker and fixing a cassette recorder. Both patient groups were about equally impaired on both naturalistic actions. Analysis of the experimental tests and their correlations to naturalistic actions suggested that different cognitive deficits caused failure in both patient groups, and that in LBD patients there were also different causes for failure on both naturalistic actions. The main difficulty of RBD patients seemed to reside in the demand to keep track of multi-step actions. In aphasic LBD patients difficulties with making coffee but not the cassette recorder were correlated with aphasia and defective retrieval of functional knowledge from semantic memory, whereas the cassette recorder correlated more strongly with a test probing solution of multi-step mechanical problems. Inference of function from structure which had been shown to be important for use of single familiar tools or tool/objects pairs [Goldenberg, G., Hagmann, S. (1998). AT Tool use and mechanical problem solving in apraxia. Neuropsychologia, 36, 581-589] appeared to play only a subordinate role for naturalistic actions involving technical devices.

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

    Directory of Open Access Journals (Sweden)

    Rosa eManenti

    2015-04-01

    Full Text Available Background: Corticobasal Syndrome (CBS is a neurodegenerative disorder that overlaps both clinically and neuropathologically with Frontotemporal dementia and is characterized by apraxia, alien limb phenomena, cortical sensory loss, cognitive impairment, behavioural changes and aphasia. It has been recently demonstrated that transcranial direct current stimulation (tDCS improves naming in healthy subjects and in subjects with language deficits.Objective: The aim of the present study was to explore the extent to which anodal transcranial direct current stimulation (anodal tDCS over the parietal cortex (PARC could facilitate naming performance in CBS subjects. Methods: Anodal tDCS was applied to the left and right PARC during object and action naming in seventeen patients with a diagnosis of possible CBS. Participants underwent two sessions of anodal tDCS (left and right and one session of placebo tDCS. Vocal responses were recorded and analyzed for accuracy and vocal Reaction Times (vRTs. Results: A shortening of naming latency for actions was observed only after active anodal stimulation over the left PARC, as compared to placebo and right stimulations. No effects have been reported for accuracy.Conclusions: Our preliminary finding demonstrated that tDCS decreased vocal reaction time during action naming in a sample of patients with CBS. A possible explanation of our results is that anodal tDCS over the left PARC effects the brain network implicated in action observation and representation. Further studies, based on larger patient samples, should be conducted to investigate the usefulness of tDCS as an additional treatment of linguistic deficits in CBS patients.

  17. Parkinsonism plus syndrome - A review

    Directory of Open Access Journals (Sweden)

    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.

  18. 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)

  19. Neural correlates of cognitive impairment in posterior cortical atrophy.

    Science.gov (United States)

    Kas, Aurélie; de Souza, Leonardo Cruz; Samri, Dalila; Bartolomeo, Paolo; Lacomblez, Lucette; Kalafat, Michel; Migliaccio, Raffaella; Thiebaut de Schotten, Michel; Cohen, Laurent; Dubois, Bruno; Habert, Marie-Odile; Sarazin, Marie

    2011-05-01

    With the prospect of disease-modifying drugs that will target the physiopathological process of Alzheimer's disease, it is now crucial to increase the understanding of the atypical focal presentations of Alzheimer's disease, such as posterior cortical atrophy. This study aimed to (i) characterize the brain perfusion profile in posterior cortical atrophy using regions of interest and a voxel-based approach; (ii) study the influence of the disease duration on the clinical and imaging profiles; and (iii) explore the correlations between brain perfusion and cognitive deficits. Thirty-nine patients with posterior cortical atrophy underwent a specific battery of neuropsychological tests, mainly targeting visuospatial functions, and a brain perfusion scintigraphy with 99mTc-ethyl cysteinate dimer. The imaging analysis included a comparison with a group of 24 patients with Alzheimer's disease, matched for age, disease duration and Mini-Mental State Examination, and 24 healthy controls. The single-photon emission computed tomography profile in patients with posterior cortical atrophy was characterized by extensive and severe hypoperfusion in the occipital, parietal, posterior temporal cortices and in a smaller cortical area corresponding to the frontal eye fields (Brodmann areas 6/8). Compared with patients with Alzheimer's disease, the group with posterior cortical atrophy showed more severe occipitoparietal hypoperfusion and higher perfusion in the frontal, anterior cingulate and mesiotemporal regions. When considering the disease duration, the functional changes began and remained centred on the posterior lobes, even in the late stage. Correlation analyses of brain perfusion and neuropsychological scores in posterior cortical atrophy highlighted the prominent role of left inferior parietal damage in acalculia, Gerstmann's syndrome, left-right indistinction and limb apraxia, whereas damage to the bilateral dorsal occipitoparietal regions appeared to be involved in B

  20. 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

  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. Samuel Alexander Kinnier Wilson. Wilson's disease, Queen Square and neurology.

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    Broussolle, E; Trocello, J-M; Woimant, F; Lachaux, A; Quinn, N

    2013-12-01

    This historical article describes the life and work of the British physician Samuel Alexander Kinnier Wilson (1878-1937), who was one of the world's greatest neurologists of the first half of the 20th century. Early in his career, Wilson spent one year in Paris in 1903 where he learned from Pierre-Marie at Bicêtre Hospital. He subsequently retained uninterrupted links with French neurology. He also visited in Leipzig the German anatomist Paul Flechsig. In 1904, Wilson returned to London, where he worked for the rest of his life at the National Hospital for the Paralysed and Epileptic (later the National Hospital for Nervous Diseases, and today the National Hospital for Neurology and Neurosurgery) in Queen Square, and also at Kings' College Hospital. He wrote on 'the old motor system and the new', on disorders of motility and muscle tone, on the epilepsies, on aphasia, apraxia, tics, and pathologic laughing and crying, and most importantly on Wilson's disease. The other objective of our paper is to commemorate the centenary of Wilson's most important work published in 1912 in Brain, and also in Revue Neurologique, on an illness newly recognized and characterized by him entitled "Progressive lenticular degeneration, a familial nervous disease associated with liver cirrhosis". He analyzed 12 clinical cases, four of whom he followed himself, but also four cases previously published by others and a further two that he considered in retrospect had the same disease as he was describing. The pathological profile combined necrotic damage in the lenticular nuclei of the brain and hepatic cirrhosis. This major original work is summarized and discussed in the present paper. Wilson not only delineated what was later called hepato-lenticular degeneration and Wilson's disease, but also introduced for the first time the terms extrapyramidal syndrome and extrapyramidal system, stressing the role of the basal ganglia in motility. The present historical work emphasizes the special

  3. Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin

    Science.gov (United States)

    El-Khamisy, Sherif F.; Katyal, Sachin; Patel, Poorvi; Ju, Limei; McKinnon, Peter J.; Caldecott, Keith W.

    2009-01-01

    Ataxia oculomotor apraxia-1 (AOA1) is an autosomal recessive neurodegenerative disease that results from mutations of aprataxin (APTX). APTX associates with the DNA single- and double-strand break repair machinery and is able to remove AMP from 5′-termini at DNA strand breaks in vitro. However, attempts to establish a DNA strand break repair defect in APTX-defective cells have proved conflicting and unclear. We reasoned that this may reflect that DNA strand breaks with 5′-AMP represent only a minor subset of breaks induced in cells, and/or the availability of alternative mechanisms for removing AMP from 5′-termini. Here, we have attempted to increase the dependency of chromosomal single- and double-strand break repair on aprataxin activity by slowing the rate of repair of 3′-termini in aprataxin-defective neural cells, thereby increasing the likelihood that the 5′-termini at such breaks become adenylated and/or block alternative repair mechanisms. To do this, we generated a mouse model in which APTX is deleted together with tyrosyl DNA phosphodiesterase (TDP1), an enzyme that repairs 3′-termini at a subset of single-strand breaks (SSBs), including those with 3′-topoisomerase-1 (Top1) peptide. Notably, the global rate of repair of oxidative and alkylation-induced SSBs was significantly slower in Tdp1−/−/Aptx−/− double knockout quiescent mouse astrocytes compared with Tdp1−/− or Aptx−/− single knockouts. In contrast, camptothecin-induced Top1-SSBs accumulated to similar levels in Tdp1−/− and Tdp1−/−/Aptx−/− double knockout astrocytes. Finally, we failed to identify a measurable defect in double-strand break repair in Tdp1−/−, Aptx−/− or Tdp1−/−/Aptx−/− astrocytes. These data provide direct evidence for a requirement for aprataxin during chromosomal single-strand break repair in primary neural cells lacking Tdp1. PMID:19303373

  4. [Clinical types of FTLD: progressive nonfluent aphasia; comparative discussions on the associated clinical presentations].

    Science.gov (United States)

    Fukui, Toshiya

    2009-11-01

    Progressive nonfluent aphasia (PNFA) is one of the 3 clinical presentations of frontotemporal lobar degeneration (FTLD), the other 2 being frontotemporal dementia and semantic dementia (SD). PNFA and SD, both representing relentlessly progressive language impairment in the realm of FTLD, may share a large part with primary progressive aphasia (PPA). A salient distinction between PPA and PNFA or SD is that PPA includes another clinical type, namely, logopenic/phonemic aphasia (LPA), which is not represented in FTLD. This is primarily because LPA is usually caused by Alzheimer's disease (AD) and the brunt of the lesion is localized at the left temporo-parietal region of the brain. Further, PNFA/SD should be limited to the clinical consequencies of FTLD while PPA is more generous with regard to its causal pathology. By definition, PNFA is an expressive language impairment which is characterized by effortful speech, phonemic errors, grammatical impairment, and word-finding difficulties. Reading and writing may be comparatively impaired. Comprehension of single word meaning is normal, while comprehension of sentencies may sometimes be impaired. PNFA should be differentiated from SD, LPA, and pure progressive apraxia of speech (AOS or alternatively referred to as aphemia or anarthria). SD may be distinguished from PNFA by virtue of its fluency, characteristic loss of word meaning and absence of agrammatism. LPA is similar to PNFA, yet differs in that there is preservation of grammatical skills and speech motor function that is devoid of AOS and/or dysarthria. AOS is an impairment at the level of speech motor programming without language impairment. Thus, there may be a double dissociation between AOS and PNFA i. e., PNFA may or may not accompany AOS and vice versa. PNFA is associated with a localized lesion in the left frontotemporal area of the brain. Immunohistochemical investigations have revealed that ubiquitin/TAR DNA binding protein-43 (TDA-43) positive and tau

  5. Mild developmental foreign accent syndrome and psychiatric comorbidity: Altered white matter integrity in speech and emotion regulation networks

    Directory of Open Access Journals (Sweden)

    Marcelo L Berthier

    2016-08-01

    Full Text Available Foreign accent syndrome (FAS is a speech disorder that is defined by the emergence of a peculiar manner of articulation and intonation which is perceived as foreign. In most cases of acquired FAS (AFAS the new accent is secondary to small focal lesions involving components of the bilaterally distributed neural network for speech production. In the past few years FAS has also been described in different psychiatric conditions (conversion disorder, bipolar disorder, schizophrenia as well as in developmental disorders (specific language impairment, apraxia of speech. In the present study, two adult males, one with atypical phonetic production and the other one with cluttering, reported having developmental FAS (DFAS since their adolescence. Perceptual analysis by naïve judges could not confirm the presence of foreign accent, possibly due to the mildness of the speech disorder. However, detailed linguistic analysis provided evidence of prosodic and segmental errors previously reported in AFAS cases. Cognitive testing showed reduced communication in activities of daily living and mild deficits related to psychiatric disorders. Psychiatric evaluation revealed long-lasting internalizing disorders (neuroticism, anxiety, obsessive-compulsive disorder, social phobia, depression, alexithymia, hopelessness, and apathy in both subjects. Diffusion tensor imaging (DTI data from each subject with DFAS were compared with data from a group of 21 age- and gender-matched healthy control subjects. Diffusion parameters (MD, AD, and RD in predefined regions of interest showed changes of white matter microstructure in regions previously related with AFAS and psychiatric disorders. In conclusion, the present findings militate against the possibility that these two subjects have FAS of psychogenic origin. Rather, our findings provide evidence that mild DFAS occurring in the context of subtle, yet persistent, developmental speech disorders may be associated with

  6. [Hyperlexia in an adult patient with lesions in the left medial frontal lobe].

    Science.gov (United States)

    Suzuki, K; Yamadori, A; Kumabe, T; Endo, K; Fujii, T; Yoshimoto, T

    2000-04-01

    A 69-year-old right-handed woman developed a transcortical motor aphasia with hyperlexia following resection of a glioma in the left medial frontal lobe. Neurological examination revealed grasp reflex in the right hand and underutilization of the right upper extremity. An MRI demonstrated lesions in the left medial frontal lobe including the supplementary motor area and the anterior part of the cingulate gyrus, which extended to the anterior part of the body of corpus callosum. Neuropsychologically she was alert and cooperative. She demonstrated transcortical motor aphasia. Her verbal output began with echolalia. Furthermore hyperlexia was observed in daily activities and during examinations. During conversation she suddenly read words written on objects around her which were totally irrelevant to the talk. When she was walking in the ward with an examiner she read words written on a trash bag that passed by and signboards which indicated a name of a room. Her conversation while walking was intermingled with reading words, which was irrelevant to the conversation. She also read time on analog clocks, which were hung on a wall in a watch store. In a naming task, she read words written on objects first and named them upon repeated question about their names. When an examiner opened a newspaper in front of her without any instructions she began reading until the examiner prohibited it. Then she began reading again when an examiner turned the page, although she remembered that she should not read it aloud. She showed mild ideomotor apraxia of a left hand. Utilization behavior, imitation behavior, hypergraphia, or compulsive use of objects was not observed throughout the course. Hyperlexic tendency is a prominent feature of this patient's language output. Hyperlexia was often reported in children with pervasive developmental disorders including autism. There are only a few reports about hyperlexia in adults and some of them were related to diffuse brain dysfunction

  7. 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

  8. 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

  9. Effects of Stroke on Ipsilesional End-Effector Kinematics in a Multi-Step Activity of Daily Living

    Science.gov (United States)

    Gulde, Philipp; Hughes, Charmayne Mary Lee; Hermsdörfer, Joachim

    2017-01-01

    Background: Stroke frequently impairs activities of daily living (ADL) and deteriorates the function of the contra- as well as the ipsilesional limbs. In order to analyze alterations of higher motor control unaffected by paresis or sensory loss, the kinematics of ipsilesional upper limb movements in patients with stroke has previously been analyzed during prehensile movements and simple tool use actions. By contrast, motion recording of multi-step ADL is rare and patient-control comparisons for movement kinematics are largely lacking. Especially in clinical research, objective quantification of complex externally valid tasks can improve the assessment of neurological impairments. Methods: In this preliminary study we employed three-dimensional motion recording and applied kinematic analysis in a multi-step ADL (tea-making). The trials were examined with respect to errors and sub-action structure, durations, path lengths (PLs), peak velocities, relative activity (RA) and smoothness. In order to check for specific burdens the sub-actions of the task were extracted and compared. To examine the feasibility of the approach, we determined the behavioral and kinematic metrics of the (ipsilesional) unimanual performance of seven chronic stroke patients (64a ± 11a, 3 with right/4 with left brain damage (LBD), 2 with signs of apraxia, variable severity of paresis) and compared the results with data of 14 neurologically healthy age-matched control participants (70a ± 7a). Results: T-tests revealed that while the quantity and structure of sub-actions of the task were similar. The analysis of end-effector kinematics was able to detect clear group differences in the associated parameters. Specifically, trial duration (TD) was increased (Cohen’s d = 1.77); the RA (Cohen’s d = 1.72) and the parameters of peak velocities (Cohen’s d = 1.49/1.97) were decreased in the patient group. Analysis of the task’s sub-actions repeated measures analysis of variance (rmANOVA) revealed

  10. 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.

  11. Financial Imbalances and Macro-prudential Policies

    Directory of Open Access Journals (Sweden)

    Polikarpova Olga S.

    2015-11-01

    Full Text Available The credit crisis and its transformation into a sovereign debt crisis have illustrated the limited character of the traditional macro financial politics. The financial crisis has shown that the priority of price stability does not guarantee macroeconomic stability. Revision of the goals and objectives of the monetary and credit policy is being carried out in many countries. In order to ensure macroeconomic stability, central banks have to use new instruments considering financial stability as an additional object. Since 2009 the IMF recommends central banks to use macro-prudential instruments for reducing macro-financial risks and imbalances in the financial system structure. The effectiveness of macro-prudential policy depends on its calibration with the monetary and credit policy. The growth of financial imbalances in the first decade after the adoption of the euro, presence of contradictory fiscal policies, deployment of a spiral of rapid crediting and price inflation have led to apraxia in the monetary and credit policy, and fiscal policy was limited by institutional arrangements. Accumulating funds during the budget surplus the countries-members of the European Monetary System (EMS attempted to reduce asymmetric shocks. The priority of price stability in the EMS had been achieved but the economies of these countries suffered from financial imbalances. Macro-prudential policy is aimed at prevention and mitigation of systemic risk, plays a significant role in reforming the new policy of central banks. That is why European countries are developing new methods and an institutional framework for the implementation of a new macro-prudential policy. Problems of structural arbitration and the possibility of emergence of new financial imbalances in the EMS are becoming increasingly real. The flow of financial capitals and financial institutions to more lenient jurisdictions is connected with the establishment of macro-prudential policy. The macro

  12. The neuropsychological and cortical metabolic changes in two patients with Benson's syndrome%Benson综合征患者两例神经心理特征与皮质代谢异常

    Institute of Scientific and Technical Information of China (English)

    高晶; 郭佳翔; 李方; 冯逢; 朱朝晖; 牛娜; 有慧; 崔丽英; 郭玉璞

    2011-01-01

    Objective Standard neuropsychological assessment plus structural and functional imaging were used in accurate diagnosis of Benson's syndrome (posterior cortical atrophy).Method Serial neuropsychological screening and integrative assessments of visual spatial function, 3D structural MRIimaging and functional FDG-PET imaging were used in two cases of Benson' s syndrome.Results The clinical signs were agnosia, optic ataxia, apraxia, alexia, agraphia and prosopagnosia.MRI imaging revealed bilateral parietal and occipital lobe atrophy.FDG-PET imaging revealed low metabolism in the posterior cortex.The agraphia was constructive: the words were correct but written in the wrong location.Conclusion Standard neuropsychological assessments can recognize the disease nature.When combined with the structural and functional imaging, a correct diagnosis of Benson's syndrome can be made.%目的 应用规范的神经心理评价结合结构影像以及功能影像正确诊断后部皮质萎缩,即Benson综合征.方法 对于综合认知功能评价证实以视空间功能异常为主要改变的2例Benson综合征患者进行系列的视空间功能检查、3D磁共振以及脱氧葡萄糖(FDG)-PET检查.结果 2例以记忆障碍为主诉就诊的患者,其中1例多次就诊于眼科诊断"视力障碍"而无其他异常发现,但经过仔细询问临床过程,规范的神经心理评价,结果证实患者有失认、视觉共济失调、失用、失读、失写(患者书写笔画正确,只是空间位置错误)等症状.2例患者MRI检查示双侧顶枕叶萎缩.FDG-PET反映顶枕皮质代谢减低,符合Benson综合征的诊断.结论 规范的神经心理评价可以正确地认识疾病本质,结构影像和功能影像对鉴别诊断Benson综合征有重要价值.

  13. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

    Science.gov (United States)

    Perez, Yonatan; Shorer, Zamir; Liani-Leibson, Keren; Chabosseau, Pauline; Kadir, Rotem; Volodarsky, Michael; Halperin, Daniel; Barber-Zucker, Shiran; Shalev, Hanna; Schreiber, Ruth; Gradstein, Libe; Gurevich, Evgenia; Zarivach, Raz; Rutter, Guy A; Landau, Daniel; Birk, Ohad S

    2017-02-09

    A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4.4 at D4S2971; θ = 0). Whole exome sequencing identified a single mutation in SLC30A9 within this locus, segregating as expected within the kindred and not found in a homozygous state in 300 Bedouin controls. We showed that SLC30A9 (solute carrier family 30 member 9; also known as ZnT-9) is ubiquitously expressed with high levels in cerebellum, skeletal muscle, thymus and kidney. Confocal analysis of SH-SY5Y cells overexpressing SLC30A9 fused to enhanced green fluorescent protein demonstrated vesicular cytosolic localization associated with the endoplasmic reticulum, not co-localizing with endosomal or Golgi markers. SLC30A9 encodes a putative zinc transporter (by similarity) previously associated with Wnt signalling. However, using dual-luciferase reporter assay in SH-SY5Y cells we showed that Wnt signalling was not affected by the mutation. Based on protein modelling, the identified mutation is expected to affect SLC30A9's highly conserved cation efflux domain, putatively disrupting its transmembrane helix structure. Cytosolic Zn2+ measurements in HEK293 cells overexpressing wild-type and mutant SLC30A9 showed lower zinc concentration within mutant rather than wild-type SLC30A9 cells. This suggests that SLC30A9 has zinc transport properties affecting intracellular zinc homeostasis, and that the molecular mechanism of the disease is through

  14. Clinical and neuroimaging characterization of posterior cortical atrophy%后皮质萎缩临床和影像学特点分析

    Institute of Scientific and Technical Information of China (English)

    石志鸿; 蔡莉; 刘帅; 王颖; 韩彤; 刘淑玲; 周玉颖; 王晓丹; 王新平

    2015-01-01

    .The above indictors were compared between PCA and AD patients.Results The most common symptoms at onset were visual space impairment,visual agnosia,apraxia,disorientation,agrapha,and acalculia in PCA patients.PCA subjects had marked impairment in visuospatial tasks,writing and calculationon neuropsychological testing.Posterior cortical atrophy were greater in PCA patients than in tAD patients (P<0.05),but atrophy in medial temporal lobe (MTL) was greater in mild AD patients than in tAD patients,and there was no significant difference in posterior cortical and MTL atrophy between moderate AD and PCA patients.The results of 18F-FDG PET showed that relative regional cerebral uptake (rCMRGlu) was decreased in temporal-parieto-occipital cortex (R> L) in PCA,but more diffused cortical decreased in typical AD.Occipical cortex(BA18,19,37) was the most obvious rCMRGlu decreasing place in PCA relative to tAD.The voxel-based automatic quantitative analysis showed that the mean PIB standardized uptake value ratio (SUVR) was higher in the inferior parietal lobe,lateral temporal cortex,middle frontal gyrus,medial prefrontal cortex,posterior cingulate cortex and precuneus,occipital lobe,supplementary motor area,and striatum in PCA and typical AD patients as compared with controls (1.6-2.6 vs.1.1-1.2,P<0.05).No significant difference in the PIB SUVR was found between the PCA and typical AD patients in all regions of interest (ROIs) (P> 0.05).Conclusions PCA has visual spatial impairment,apraxia,parietal cortex atrophy and hypometabolism in right temporo-parieto-occipital region as the main characteristics,and amyloid deposition in cortex in PCA patients is similar to that in typical AD patients.

  15. logopenic型和非流利型原发性进行性失语的认知和言语障碍的比较%Profiles of cognitive and language impairment of logopenic and non-fluent variant of primary progressive aphasia

    Institute of Scientific and Technical Information of China (English)

    李丹; 赵丽娜; 靳红梅; 张敏; 郭冬梅; 于跃怡; 武力勇; 唐毅; 李芳玉

    2016-01-01

    Objective To decipher the cognitive and linguistic feature of logopenic variant primary progressive aphasia (lv-PPA) and nonfluent variant primary progressive aphasia (nfv-PPA) and to explore the extent to which cognitive and language impairment contribute to the dysfunction of activity of daily living (ADL).Methods Seven lv-PPA and five nfv-PPA were enrolled in memory clinic of Xuanwu Hospital,Capital Medical University from January 2015 to January 2016 accordig to the international consensus criteria for PPA and its three subtypes.20 age-matched normal controls (NC) were included.Both the patients and the NC completed a battery of neuropsychological test,lingusitic test and brain magnetic resonance imaging.All the patients conducted 11C Pittsburgh compound B (PiB) PET imaging.Result Lv-PPA patients were characterized by deficits in lexical retrieval and long sentenses repetition,while nfv-PPA were with motor speech apraxia and phonetic distortion.Compared with nfv-PPA,lv-PPA patient displayed more severe cognitive deficit with younger onset of age (56 ± 5 vs 61 ± 5,P < 0.05),rapid decline of MMSE score within 1.5 years and pariental cortex dysfunctions such as ideomotor praxis,Gerstmann syndrome and contructional apraxia.Correlation analysis indicated that there was more significant association between pariental cortex dysfunction and ADL/mini-mental state examination (MMSE) than that of language deficit (r =-0.868,r =-0.922;r =0.312,r =-0.257).All seven lv-PPA were PiB-PET positive and five nfv-PPA were negative.Conclusion This study enriched the chinical and linguistic characterization of lvPPA and nfv-PPA,which has implication for diagnosis,disease management and treatment for clinicians.%目的 比较原发性进行性失语logopenic型和非流利型两种临床亚型认知和言语障碍的差异,分析言语和认知障碍对日常生活能力下降的不同影响.方法 首都医科大学宣武医院神经内科记忆门诊2015年1月至2016年1月

  16. 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

  17. Post-stroke language disorders.

    Science.gov (United States)

    Sinanović, Osman; Mrkonjić, Zamir; Zukić, Sanela; Vidović, Mirjana; Imamović, Kata

    2011-03-01

    type of sensory aphasia where damage to the brain causes the patient to lose the ability to read. It is also called word blindness, text blindness or visual aphasia. Alexia refers to an acquired inability to read due to 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 background. Most aphasics are also alexic, but alexia may occur in the absence of aphasia and may occasionally be the sole disability resulting from specific brain lesions. There are different classifications of alexias. Traditionally, 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 disruption of previously intact writing skills by brain damage. Writing involves several elements: language processing, spelling, visual perception, visuospatial 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 in 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. These language disturbances can be classified differently, but there are three principal types of acalculia: acalculia associated with language disturbances, including number paraphasia, number agraphia, or number alexia; acalculia secondary to visuospatial dysfunction with malalignment of numbers and columns, and primary anarithmetria entailing disruption of the computation process.

  18. 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.

  19. 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

  20. 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

  1. 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

  2. 胼胝体梗死:临床与影像学特征%Corpus callosum infarction: clinical and imaging features

    Institute of Scientific and Technical Information of China (English)

    盛蕾; 胡丹; 肖婧; 张兰坤; 胡君; 王立; 李传游; 丁彩霞; 江雪梅

    2013-01-01

    Objeetive To investigate the clinical and imaging features in patients with corpus callosum infarction.Methods The patients with corpus callosum infarction confirmed by MRI were collected retrospectively.Their clinical manifestations and imaging data were analyzed.Results The corpus callosum infarction accounted for 1.04% of all patients with cerebral infarction.Its major risk factors were hypertension,coronary heart disease,and diabetes.Its typical clinical manifestations included ideomotor apraxia (42.9%),frontal gait (28.6%) and alien hand syndrome (14.3%) accompanied with limb paralysis,disturbance of consciousness,cognitive impairment and other symptoms.MRI detected 8 corpus callosum lesions.Most were involved in the body of corpus callosum (62.5%),followed by splenium (25.0%) and genu (1/8,12.5%).The frontal lobe (57.1%),basal ganglia (42.9%) and occipital lobe (42.9%) were frequently involved.Diffusion tensor imaging revealed that the fiber connections of the body and genu of corpus callosum were broken in one case.Angiography showed that 6 patients had vascular stenosis or occlusion,and the most common was vertebral artery stenosis (66.7%),followed by anterior cerebral artery (50.0%),and common carotid arery,internal carotid artery and middle cerebral artery stenoses were rare (all 33.3%).Conclusions The incidence of corpus callosum infarction is low.Atherosclerosis is the pathogenic key.Its clinical manifestations are diverse,and they are associated with the sites of infarction.%目的 探讨胼胝体梗死患者的临床和影像学特征.方法 回顾性收集经颅脑MRI证实的胼胝体梗死患者,对其临床表现和影像学资料进行分析.结果 胼胝体梗死占所有脑梗死患者的1.04%(7/671),其主要危险因素是高血压、冠心病和糖尿病.典型表现包括观念运动性失用(42.9%)、额叶步态(28.6%)和异己手综合征(14.3%),可伴有肢体瘫痪、意识障碍和认知损害等

  3. Clinical Diagnosis of the Diseases with Atypical Parkinsonian Disorders%非典型帕金森病相关疾病的临床诊断思路

    Institute of Scientific and Technical Information of China (English)

    胡智伟; 王浩; 邹小东; 王百辰; 呙登俊

    2013-01-01

    and levodopa (L-dopa) tests.The final clinical diagnosis was made according to the diagnostic criterias of APD related diseases.Results For clinical manifestations,among the 48 patients,there were 42 cases with hypermytoma,40 cases with tremor,39 cases with bradykinesia,32 cases with abnormal postural reflex,29 cases with abnormal gait,13 cases with orthostatic hypotension,12 cases with tendon hyperreflexia,11 cases with cognitive impairment,10 cases with vertical gaze palsy,10 cases with bulbar palsy,8 cases with ataxia,8 cases with positive pathologic reflexes,7 cases with K-F corneal ring,5 cases with visual hallucination and 3 cases with unilateral limb ignorance duo to apraxia.Laboratory tests showed abnormal liver function in 9 cases,thrombocytopenia in 8 cases,reduced serum ceruloplasmin levels in 7 cases and abnormal coagulation monitoring in 5 cases.The CT scan revealed low density in basal ganglia in 19 cases,ventricular dilatation in 17 cases and cerebral atrophy in 14 cases.The MR imaging showed abnormal signals in the basal ganglia in 30 cases,ventricle expand in 20 cases,diffusive cerebral atrophy in 18 cases,atrophy in pons and cerebellum in 15 cases,hippocampal atrophy in 7 cases,high intensity in pallidum on T2 in 4 cases,“putamen fissure sign” in 8 cases,“cross sign” in pons in 7 cases and “hummingbird sign”in midbrain in 6 cases.Fourty-six cases showed poor response to L-dopa treatment.Montreal Cognitive Assessment Scale (MoCA) total scores < 26 in 23 cases.There were 18 cases diagnosed clinically as multiple system atrophy(MSA),10 cases diagnosed as progressive supranuclear palsy (PSP),7 cases diagnosed as Wilson disease(WD),6 cases diagnosed as dementia with Lewy bodies (DLB),5 cases diagnosed as Alzheimer' s disease (AD) with Parkinsonism syndrome (PS) and 2 cases diagnosed as corticobasal degeneration (CBD).Conclusion Although APD related diseases have some similarity in clinical manifestations,but their clinical characteristics

  4. 脑卒中患者康复期间跌倒的特点及危险因素分析%Characteristics and risk factors for falls in stroke patients during inpatient rehabilitation

    Institute of Scientific and Technical Information of China (English)

    邓晓清; 方芳; 蒋红焱; 张立湘; 向平; 王晓磊; 黄丽华; 曾宪国

    2014-01-01

    Objective To evaluate the characteristics and risk factors for falls in stroke patients during inpatient rehabilitation .Methods Ninety-five patients with acute stroke during inpatient rehabilitation were included prospectively .The characteristics of falling were analyzed .The risk factors for falls were analyzed by multiple logistic regression analysis .Results Of 95 patients included in this study , fallers were observed in 21 patients(22.1%).14 patients(66.7%)falled firstly within 1 month,5 patients (23.8%)occured from 1 to 2 months and 2 patients(9.5%)occured from 2 month to discharge after their admission.14 patients(66.7%)falled during daytime and 7 patients(33.3%)falled during night.7 patients (33.3%)falled when transfering and 3 patients (14.3%) falled when sitting in bed.7 patients (33.3%) falled when walking or exercising in corridor .2 patients ( 9.5%) falled when going to toilet and 2 patients (9.5%)falled when bathing.5 fallers(23.8%)experienced recurrent falls.2 fallers(9.5%)experienced no injuries,16 fallers ( 76.2%) experienced grazes , 3 fallers ( 14.3%) experienced fracture .Fallers showed significantly lower Barthel index ( BI ) than non-fallers upon admission and discharge .Univariate analysis showed that age,history of previous falls,side of hemiparesis,consciousness disturbance,delirium,visual impairment,sensory disturbance,apraxia,unilateral spatial neglect,urinary incontinence,fecal incontinence, use of psychotropic medicines ,walk independently ,low Hasegawa demetia scale ( HDS-R) and hospitalization were associated with more frequent fall .Multiple logistic regression analysis showed that history of previous falls(OR=1.85,95%CI:1.26-2.81),side of hemiparesis(right OR=2.37,95%CI:1.62-4.59;left OR=2.47 , 95% CI:1.46-4.78 ) , visual impairment ( OR =2.31 , 95% CI:1.31-5.02 ) , sensory disturbance (OR=2.38,95% CI:1.42-4.68 ), unilateral spatial neglect ( OR =3.44,95% CI:2.82-5.38 ), use of psychotropic medicines ( OR=1.36 ,95% CI:1

  5. Study on the diagnosis of disorders with Parkinson-like symptoms%具有帕金森病样症状相关疾病的诊断探讨

    Institute of Scientific and Technical Information of China (English)

    胡智伟; 邹小冬

    2012-01-01

    Objective To investigate the diagnosis of the disorders with Parkinson-like symptoms (PLS). Methods The clinical data of 78 patients with PLS admitted in our hospital during 2008-01 to 2010-12 were analyzed retrospectively, including medical history, physical examinations, clinical manifestations, blood biochemistry, parathyroxin, ceruloplasmin, levodopa (L-dopa ) test, brain CT scan and MR imaging. The final clinical diagnosis was made according to the diagnostic criteria of PLS related disorders. Results For clinical manifestations, among the 78 patients, there were 74 cases with hypermyotonia, 67 cases with tremor, 65 cases with bradykinesia, 56 cases with abnormal postural reflex, 52 cases with abnormal gait, 5 cases with orthostatic hypotension, 4 cases with vertical gaze palsy, 2 cases with positive K-F corneal ring, 2 cases with visual hallucination, and 1 case with unilateral limb ignorance due to apraxia. The blood biochemistry tests showed abnormal liver function in 5 cases, reduced serum ceruloplasmin level in 2 cases and reduced serum parathyroxin level in 1 case. The CT scan revealed low density in basal ganglia in 59 cases, cerebral atrophy in 35 cases, encephalomalacia in 10 cases, and calcifications existing in the basal ganglia and cerebellar hemisphere in 2 cases. The MR imaging showed abnormal signals in the basal ganglia, the brain stem and the brain whiterfnatter in 65 cases, atrophy in pons and cerebellum in 5 cases, "putamen fissure sign" in 4 cases, "cross sign" in pons in 3 cases, cerebral "hummingbirds sign" in 1 case, high intensity in pallidum on T2 in 2 cases. 31 cases showed poor response to L-dopa treatment. There were 36 cases diagnosed clinically as PD, 28 cases diagnosed as parkinsonian syndrome (PS), 4 cases diagnosed as multiple system atrophy (MSA), 4 cases diagnosed as progressive supranuclear palsy (PSP), 2 cases diagnosed as Lewy body (DLB), 2 cases diagnosed as Wilson disease (WD), 1 case diagnosed as basal ganglia