경부근긴장이상증으로 발현한 6형 척수소뇌실조증

Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia

초록

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 SCA6presenting with disabling cervical dystonia.

키워드

Spinocerebellar ataxia 6; Cervical dystonia; Spinocerebellar ataxia 6; Cervical dystonia
제목
경부근긴장이상증으로 발현한 6형 척수소뇌실조증
제목 (타언어)
Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia
저자
김형인; 고지애; 김지선; 박정호; 박선아; 이태경; 성기범
발행일
2010
저널명
대한신경과학회지
권
28
호
4
페이지
301 ~ 303