Dystonia in spinocerebellar ataxia type 6
Identifieur interne : 006824 ( Main/Merge ); précédent : 006823; suivant : 006825Dystonia in spinocerebellar ataxia type 6
Auteurs : Kapil D. Sethi [États-Unis] ; Joseph Jankovic [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2002.
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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 extra-pyramidal 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.
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Pascal:02-0204561Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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="2"><inist:fA14 i1="01"><s1>Medical College of Georgia</s1><s2>Augusta, Georgia</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Baylor College of Medicine</s1><s2>Houston, Texas</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName><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">INIST</idno><idno type="inist">02-0204561</idno><date when="2002">2002</date><idno type="stanalyst">PASCAL 02-0204561 INIST</idno><idno type="RBID">Pascal:02-0204561</idno><idno type="wicri:Area/PascalFrancis/Corpus">002842</idno><idno type="wicri:Area/PascalFrancis/Curation">000479</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002785</idno><idno type="wicri:doubleKey">0885-3185:2002:Sethi K:dystonia:in:spinocerebellar</idno><idno type="wicri:Area/Main/Merge">006824</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="2"><inist:fA14 i1="01"><s1>Medical College of Georgia</s1><s2>Augusta, Georgia</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Baylor College of Medicine</s1><s2>Houston, Texas</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName><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" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002">2002</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Case study</term><term>Clinical form</term><term>Diagnosis</term><term>Dystonia</term><term>Inaugural sign</term><term>Male</term><term>Spinocerebellar ataxia</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Ataxie spinocérébelleuse</term><term>Signe inaugural</term><term>Etude cas</term><term>Diagnostic</term><term>Forme clinique</term><term>Adulte</term><term>Mâle</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</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 extra-pyramidal 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><affiliations><list><country><li>États-Unis</li></country><region><li>Géorgie (États-Unis)</li><li>Texas</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><country name="États-Unis"><region name="Géorgie (États-Unis)"><name sortKey="Sethi, Kapil D" sort="Sethi, Kapil D" uniqKey="Sethi K" first="Kapil D." last="Sethi">Kapil D. Sethi</name></region><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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