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KMID : 0359720100280040301
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Journal of the Korean Neurological Association
2010 Volume.28 No. 4 p.301 ~ p.303
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Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia
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Kim Hyung-In
Ko Ji-Ae
Kim Ji-Sun
Park Jeong-Ho
Park Sun-Ah
Lee Tae-Kyeong
Sung Ki-Bum
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Abstract
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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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KEYWORD
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Spinocerebellar ataxia 6, Cervical dystonia
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