Dystonia in spinocerebellar ataxia type 6.
Identifieur interne : 000666 ( Ncbi/Merge ); précédent : 000665; suivant : 000667Dystonia in spinocerebellar ataxia type 6.
Auteurs : Kapil D. Sethi [États-Unis] ; Joseph Jankovic [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- MESH :
- complications : Dystonia, Spinocerebellar Ataxias.
- diagnosis : Dystonia.
- pathology : Cerebellum, Red Nucleus.
- Humans, Magnetic Resonance Imaging, Male, Middle Aged, Severity of Illness Index.
Abstract
Spinocerebellar ataxias are heterogeneous disorders with overlapping clinical features. Spinocerebellar ataxia-6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings. We report on two patients with genetically proven SCA-6 who had dystonia. One patient presented initially with dystonia, which remained the most disabling problem. Dystonia may occur in SCA-6 and can be disabling.
PubMed: 11835453
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pubmed:11835453Le document en format XML
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<author><name sortKey="Sethi, Kapil D" sort="Sethi, Kapil D" uniqKey="Sethi K" first="Kapil D" last="Sethi">Kapil D. Sethi</name>
<affiliation wicri:level="1"><nlm:affiliation>Medical College of Georgia, Augusta, Georgia 30912, USA. Ksethi@neuro.mcg.edu</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Medical College of Georgia, Augusta, Georgia 30912</wicri:regionArea>
<wicri:noRegion>Georgia 30912</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><country>États-Unis</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Dystonia in spinocerebellar ataxia type 6.</title>
<author><name sortKey="Sethi, Kapil D" sort="Sethi, Kapil D" uniqKey="Sethi K" first="Kapil D" last="Sethi">Kapil D. Sethi</name>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cerebellum (pathology)</term>
<term>Dystonia (complications)</term>
<term>Dystonia (diagnosis)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Red Nucleus (pathology)</term>
<term>Severity of Illness Index</term>
<term>Spinocerebellar Ataxias (complications)</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term>
<term>Red Nucleus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Severity of Illness Index</term>
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<front><div type="abstract" xml:lang="en">Spinocerebellar ataxias are heterogeneous disorders with overlapping clinical features. Spinocerebellar ataxia-6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings. We report on two patients with genetically proven SCA-6 who had dystonia. One patient presented initially with dystonia, which remained the most disabling problem. Dystonia may occur in SCA-6 and can be disabling.</div>
</front>
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<DateRevised><Year>2004</Year>
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<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>17</Volume>
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<PubDate><Year>2002</Year>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Dystonia in spinocerebellar ataxia type 6.</ArticleTitle>
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<Abstract><AbstractText>Spinocerebellar ataxias are heterogeneous disorders with overlapping clinical features. Spinocerebellar ataxia-6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings. We report on two patients with genetically proven SCA-6 who had dystonia. One patient presented initially with dystonia, which remained the most disabling problem. Dystonia may occur in SCA-6 and can be disabling.</AbstractText>
<CopyrightInformation>Copyright 2001 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sethi</LastName>
<ForeName>Kapil D</ForeName>
<Initials>KD</Initials>
<AffiliationInfo><Affiliation>Medical College of Georgia, Augusta, Georgia 30912, USA. Ksethi@neuro.mcg.edu</Affiliation>
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<Author ValidYN="Y"><LastName>Jankovic</LastName>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002531">Cerebellum</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012012">Red Nucleus</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName>
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