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Journal of the Korean Neurological Association ; : 301-303, 2010.
Artigo em Coreano | WPRIM | ID: wpr-190874

RESUMO

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
Adulto , Humanos , Alelos , Ataxia , Atrofia , Encéfalo , Disartria , Marcha , Cabeça , Imageamento por Ressonância Magnética , Mães , Exame Neurológico , Ataxias Espinocerebelares , Torcicolo
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