Dystonia in spinocerebellar ataxia type 6.
Identifieur interne : 003B17 ( PubMed/Checkpoint ); précédent : 003B16; suivant : 003B18Dystonia 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
Affiliations:
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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><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:11835453</idno><idno type="pmid">11835453</idno><idno type="wicri:Area/PubMed/Corpus">003B85</idno><idno type="wicri:Area/PubMed/Curation">003B85</idno><idno type="wicri:Area/PubMed/Checkpoint">003B17</idno></publicationStmt><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><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><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><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></keywords></textClass></profileDesc></teiHeader><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></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11835453</PMID><DateCreated><Year>2002</Year><Month>02</Month><Day>08</Day></DateCreated><DateCompleted><Year>2002</Year><Month>05</Month><Day>24</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>17</Volume><Issue>1</Issue><PubDate><Year>2002</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Dystonia in spinocerebellar ataxia type 6.</ArticleTitle><Pagination><MedlinePgn>150-3</MedlinePgn></Pagination><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></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002531">Cerebellum</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012012">Red Nucleus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>2</Month><Day>9</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>5</Month><Day>25</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>2</Month><Day>9</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11835453</ArticleId><ArticleId IdType="pii">10.1002/mds.1252</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Texas</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><country name="États-Unis"><noRegion><name sortKey="Sethi, Kapil D" sort="Sethi, Kapil D" uniqKey="Sethi K" first="Kapil D" last="Sethi">Kapil D. 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