A Case of Spinocerebellar Ataxia Type 7 with Torticollis

J Korean Neurol Assoc > Volume 21(6); 2003 > Article

Journal of the Korean Neurological Association 2003;21(6): 663-666.

사경을 동반한 제7형 척수소뇌성실조증 1예

이진구 , 김현숙 이명식

연세대학교 의과대학 영동세브란스병원 신경과

A Case of Spinocerebellar Ataxia Type 7 with Torticollis

Jin Goo Lee

Department of Neurology, Yongdong Severance Hospital, Yonsei University College of Medicine

Abstract

The spinocerebellar ataxia type 7 is an autosomal dominant neurodegenerative disorder with expansion of unstable CAG trinucleotide repeats in a gene on chromosome 3p, and is classified as autosomal dominant cerebellar ataxia type II. Extrapyramidal findings are uncommonly recognized in autosomal dominant cerebellar ataxia type II. A 27-year-old woman showed progressive ataxia, visual disturbance and torticollis. We report a case of genetically confirmed spinocerebellar ataxia type 7 with extrapyramidal finding. Key Words: Spinocerebellar ataxia type 7, Autosomal dominant cerebellar ataxia type II, Torticollis