Focal dystonia as a presenting sign of spinocerebellar ataxia 17
Identifieur interne : 001645 ( Istex/Corpus ); précédent : 001644; suivant : 001646Focal dystonia as a presenting sign of spinocerebellar ataxia 17
Auteurs : Johann M. Hagenah ; Christine Zühlke ; Yorck Hellenbroich ; Wolfgang Heide ; Christine KleinSource :
- Movement Disorders [ 0885-3185 ] ; 2004-02.
English descriptors
Abstract
We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA‐binding protein gene ranged from 53 to 55 repeats (normal: 29–42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia. © 2003 Movement Disorder Society
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DOI: 10.1002/mds.10600
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The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia. © 2003 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Johann M. Hagenah MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Christine Zühlke PhD</name><affiliations><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Yorck Hellenbroich MD</name><affiliations><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Wolfgang Heide MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>SCA17</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>TBP gene</value></json:item></subject><language><json:string>eng</json:string></language><abstract>We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA‐binding protein gene ranged from 53 to 55 repeats (normal: 29–42). 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The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia. © 2003 Movement Disorder Society</abstract><note type="additional physical form">Supporting Information file suppmat_217.mpg</note><note type="content">*A videotape accompanies this article.</note><note type="funding">Deutsche Dystonie Gesellschaft eV</note><subject lang="en"><genre>Keywords</genre><topic>SCA17</topic><topic>dystonia</topic><topic>ataxia</topic><topic>TBP gene</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. 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|texte= Focal dystonia as a presenting sign of spinocerebellar ataxia 17
}}
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