J Korean Neurol Assoc.
2010 Nov;28(4):301-303.
Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia
- Affiliations
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- 1Department of Neurology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea. parkgene@schbc.ac.kr
Abstract
- 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 SCA6 presenting with disabling cervical dystonia.
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