Movement Disorders (revue)

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Dystonia in spinocerebellar ataxia type 6.

Identifieur interne : 006204 ( Main/Merge ); précédent : 006203; suivant : 006205

Dystonia in spinocerebellar ataxia type 6.

Auteurs : Kapil D. Sethi [États-Unis] ; Joseph Jankovic [États-Unis]

Source :

RBID : pubmed:11835453

English descriptors

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:11835453

Le document en format XML

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<nlm:affiliation>Medical College of Georgia, Augusta, Georgia 30912, USA. Ksethi@neuro.mcg.edu</nlm:affiliation>
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<term>Cerebellum (pathology)</term>
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<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>
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<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>
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