경부근긴장이상증으로 발현한 6형 척수소뇌실조증Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia
- Other Titles
- Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia
- Authors
- 김형인; 고지애; 김지선; 박정호; 박선아; 이태경; 성기범
- Issue Date
- 2010
- Publisher
- 대한신경과학회
- Keywords
- Spinocerebellar ataxia 6; Cervical dystonia; Spinocerebellar ataxia 6; Cervical dystonia
- Citation
- 대한신경과학회지, v.28, no.4, pp 301 - 303
- Pages
- 3
- Journal Title
- 대한신경과학회지
- Volume
- 28
- Number
- 4
- Start Page
- 301
- End Page
- 303
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/18227
- ISSN
- 1225-7044
2288-985X
- 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 SCA6presenting with disabling cervical dystonia.
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Collections - College of Medicine > Department of Neurology > 1. Journal Articles
- College of Medicine > Department of Neurology > 1. Journal Articles
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