Movement disorders in spinocerebellar ataxias
Identifieur interne : 001532 ( Main/Exploration ); précédent : 001531; suivant : 001533Movement disorders in spinocerebellar ataxias
Auteurs : Judith Van Gaalen [Pays-Bas] ; Paola Giunti [Royaume-Uni] ; Bart P. Van De Warrenburg [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-04.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Basal ganglion, Cerebellar ataxia, Humans, Movement Disorders (classification), Movement Disorders (etiology), Nervous system diseases, Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (diagnosis), Spinocerebellar ataxia, basal ganglia, motor system, movement disorders, spinocerebellar ataxias.
- MESH :
- classification : Movement Disorders.
- complications : Spinocerebellar Ataxias.
- diagnosis : Spinocerebellar Ataxias.
- etiology : Movement Disorders.
- Humans.
Abstract
Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When combined with cerebellar ataxia, the occurrence of a specific movement disorder can provide a clue toward the underlying genotype. There are reasons to believe that for some coexisting movement disorders, the cerebellar pathology itself is the culprit, for example, in the case of cortical myoclonus and perhaps dystonia. However, movement disorders in SCAs are more likely related to extracerebellar pathology, and imaging and neuropathological data indeed show involvement of other parts of the motor system (substantia nigra, striatum, pallidum, motor cortex) in some SCA subtypes. When confronted with a patient with an isolated movement disorder, that is, without ataxia, there is currently no reason to routinely screen for SCA gene mutations, the only exceptions being SCA2 in autosomal dominant parkinsonism (particularly in Asian patients) and SCA17 in the case of a Huntington's disease–like presentation without an HTT mutation. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23584
Affiliations:
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Le document en format XML
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Van De Warrenburg</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-04">2011-04</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="792">792</biblScope><biblScope unit="page" to="800">800</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">D3054452C4525607ABA28AF7A07E577B0E16B160</idno><idno type="DOI">10.1002/mds.23584</idno><idno type="ArticleID">MDS23584</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Basal ganglion</term><term>Cerebellar ataxia</term><term>Humans</term><term>Movement Disorders (classification)</term><term>Movement Disorders (etiology)</term><term>Nervous system diseases</term><term>Spinocerebellar Ataxias (complications)</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar ataxia</term><term>basal ganglia</term><term>motor system</term><term>movement disorders</term><term>spinocerebellar ataxias</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie cérébelleuse</term><term>Ataxie spinocérébelleuse</term><term>Noyau gris central</term><term>Pathologie du système nerveux</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When combined with cerebellar ataxia, the occurrence of a specific movement disorder can provide a clue toward the underlying genotype. There are reasons to believe that for some coexisting movement disorders, the cerebellar pathology itself is the culprit, for example, in the case of cortical myoclonus and perhaps dystonia. However, movement disorders in SCAs are more likely related to extracerebellar pathology, and imaging and neuropathological data indeed show involvement of other parts of the motor system (substantia nigra, striatum, pallidum, motor cortex) in some SCA subtypes. When confronted with a patient with an isolated movement disorder, that is, without ataxia, there is currently no reason to routinely screen for SCA gene mutations, the only exceptions being SCA2 in autosomal dominant parkinsonism (particularly in Asian patients) and SCA17 in the case of a Huntington's disease–like presentation without an HTT mutation. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Gueldre</li></region><settlement><li>Londres</li><li>Nimègue</li></settlement></list><tree><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Gaalen, Judith" sort="Van Gaalen, Judith" uniqKey="Van Gaalen J" first="Judith" last="Van Gaalen">Judith Van Gaalen</name></region><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. Van De Warrenburg</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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