Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia

J Korean Neurol Assoc > Volume 28(4); 2010 > Article

Journal of the Korean Neurological Association 2010;28(4): 301-303.

경부근긴장이상증으로 발현한 6형 척수소뇌실조증

김형인, 고지애 김지선 박정호 박선아 이태경 성기범

순천향대학교 부천병원 신경과

Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia

Hyung-In Kim

Department of Neurology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of

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. Key Words: Spinocerebellar ataxia 6, Cervical dystonia