We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, fo
Dystonia as a presenting sign of spinocerebellar ataxia type 1
β Scribed by Yih-Ru Wu; Guey-Jen Lee-Chen; Anthony E. Lang; Chiung-Mei Chen; Hsuan-Yuan Lin; Sien-Tsong Chen
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 514 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0885-3185
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β¦ Synopsis
Abstract
We report on a 39βyearβold man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1, highlighting the importance of considering this entity in patients combining dystonia and cerebellar ataxia. Β© 2004 Movement Disorder Society
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