Dystonia as a presenting sign of spinocerebellar ataxia type 1
Identifieur interne : 003D34 ( Main/Exploration ); précédent : 003D33; suivant : 003D35Dystonia as a presenting sign of spinocerebellar ataxia type 1
Auteurs : Yih-Ru Wu [Taïwan] ; Guey-Jen Lee-Chen [Taïwan] ; Anthony E. Lang [Canada] ; Chiung-Mei Chen [Taïwan] ; Hsuan-Yuan Lin [Taïwan] ; Sien-Tsong Chen [Taïwan]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-05.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Blepharospasm (diagnosis), Brain (pathology), Diagnosis, Differential, Dystonia, Dystonia (diagnosis), Humans, Magnetic Resonance Imaging, Male, Nervous system diseases, Pedigree, Saccades (physiology), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Trinucleotide Repeat Expansion (genetics), Videotape Recording, dystonia, spinocerebellar ataxia type 1.
- MESH :
- diagnosis : Blepharospasm, Dystonia, Spinocerebellar Ataxias.
- genetics : Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- pathology : Brain.
- physiology : Saccades.
- Adult, Diagnosis, Differential, Humans, Magnetic Resonance Imaging, Male, Pedigree, Videotape Recording.
Abstract
We report on a 39‐year‐old man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1, highlighting the importance of considering this entity in patients combining dystonia and cerebellar ataxia. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.10708
Affiliations:
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Le document en format XML
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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="2004-05">2004-05</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="586">586</biblScope><biblScope unit="page" to="587">587</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">689B25801FA0B70A7B7D37AFAC1EBB7A643424B1</idno><idno type="DOI">10.1002/mds.10708</idno><idno type="ArticleID">MDS10708</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Blepharospasm (diagnosis)</term><term>Brain (pathology)</term><term>Diagnosis, Differential</term><term>Dystonia</term><term>Dystonia (diagnosis)</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Nervous system diseases</term><term>Pedigree</term><term>Saccades (physiology)</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Videotape Recording</term><term>dystonia</term><term>spinocerebellar ataxia type 1</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Blepharospasm</term><term>Dystonia</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spinocerebellar Ataxias</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Saccades</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Diagnosis, Differential</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Pedigree</term><term>Videotape Recording</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term><term>Dystonie</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a 39‐year‐old man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1, highlighting the importance of considering this entity in patients combining dystonia and cerebellar ataxia. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li><li>Taïwan</li></country><region><li>Ontario</li></region><settlement><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Taïwan"><noRegion><name sortKey="Wu, Yih U" sort="Wu, Yih U" uniqKey="Wu Y" first="Yih-Ru" last="Wu">Yih-Ru Wu</name></noRegion><name sortKey="Chen, Chiung Ei" sort="Chen, Chiung Ei" uniqKey="Chen C" first="Chiung-Mei" last="Chen">Chiung-Mei Chen</name><name sortKey="Chen, Sien Song" sort="Chen, Sien Song" uniqKey="Chen S" first="Sien-Tsong" last="Chen">Sien-Tsong Chen</name><name sortKey="Lee Hen, Guey En" sort="Lee Hen, Guey En" uniqKey="Lee Hen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><name sortKey="Lin, Hsuan Uan" sort="Lin, Hsuan Uan" uniqKey="Lin H" first="Hsuan-Yuan" last="Lin">Hsuan-Yuan Lin</name></country><country name="Canada"><region name="Ontario"><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. 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