Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia.
- Author:
Hyung In KIM
1
;
Ji Ae KO
;
Ji Sun KIM
;
Jeong Ho PARK
;
Sun Ah PARK
;
Tae Kyeong LEE
;
Ki Bum SUNG
Author Information
1. Department of Neurology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea. parkgene@schbc.ac.kr
- Publication Type:Case Report
- Keywords:
Spinocerebellar ataxia 6;
Cervical dystonia
- MeSH:
Adult;
Alleles;
Ataxia;
Atrophy;
Brain;
Dysarthria;
Gait;
Head;
Humans;
Magnetic Resonance Imaging;
Mothers;
Neurologic Examination;
Spinocerebellar Ataxias;
Torticollis
- From:Journal of the Korean Neurological Association
2010;28(4):301-303
- CountryRepublic of Korea
- Language:Korean
-
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.
