A Case of Spinocerebellar Ataxia Type 7 with Torticollis.
- Author:
Jin Goo LEE
1
;
Hyun Sook KIM
;
Myung Sik LEE
Author Information
1. Department of Neurology, Yongdong Severance Hospital, Yonsei University College of Medicine, Korea. myungs56@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Spinocerebellar ataxia type 7;
Autosomal dominant cerebellar ataxia type II;
Torticollis
- MeSH:
Adult;
Ataxia;
Cerebellar Ataxia;
Female;
Genes, vif;
Humans;
Neurodegenerative Diseases;
Spinocerebellar Ataxias*;
Torticollis*;
Trinucleotide Repeats
- From:Journal of the Korean Neurological Association
2003;21(6):663-666
- CountryRepublic of Korea
- Language:Korean
-
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.
