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Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia
Journal of the Korean Neurological Association ; : 301-303, 2010.
Artigo em Coreano | WPRIM | ID: wpr-190874
ABSTRACT
A 29-year-old man presented with involuntary head turning to the right. His family history showed that his mother and two maternal uncles had dysarthria and gait disturbance. Other than mild swaying on tandem gait, his neurologic examination was normal. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Molecular analysis revealed an expanded SCA6 (spinocerebellar ataxia 6) allele of 23 CAG repeats. We therefore report a case of SCA6 presenting with disabling cervical dystonia.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Ataxia / Atrofia / Torcicolo / Encéfalo / Imageamento por Ressonância Magnética / Ataxias Espinocerebelares / Disartria / Alelos / Marcha / Cabeça Limite: Adulto / Humanos Idioma: Coreano Revista: Journal of the Korean Neurological Association Ano de publicação: 2010 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Ataxia / Atrofia / Torcicolo / Encéfalo / Imageamento por Ressonância Magnética / Ataxias Espinocerebelares / Disartria / Alelos / Marcha / Cabeça Limite: Adulto / Humanos Idioma: Coreano Revista: Journal of the Korean Neurological Association Ano de publicação: 2010 Tipo de documento: Artigo