- J Korean Neurol Assoc. 2003;21(6):663-666.
- A Case of Spinocerebellar Ataxia Type 7 with Torticollis
- Jin Goo Lee
- Department of Neurology, Yongdong Severance Hospital, Yonsei University College of Medicine
- 사경을 동반한 제7형 척수소뇌성실조증 1예
- 이진구 , 김현숙 이명식
- 연세대학교 의과대학 영동세브란스병원 신경과
- 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
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