J Korean Neurol Assoc.  2003 Dec;21(6):663-666.

A Case of Spinocerebellar Ataxia Type 7 with Torticollis

• Lee JG
• Kim HS
• Lee MS

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.

Keyword

Spinocerebellar ataxia type 7; Autosomal dominant cerebellar ataxia type II; Torticollis

MeSH Terms

Adult
Ataxia
Cerebellar Ataxia
Female
Genes, vif
Humans
Neurodegenerative Diseases
Spinocerebellar Ataxias*
Torticollis*
Trinucleotide Repeats