Cell-type-specific alternative splicing in spinocerebellar ataxia type 6
β Scribed by Taiji Tsunemi; Kinya Ishikawa; Honglian Jin; Hidehiro Mizusawa
- Book ID
- 116770873
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 482 KB
- Volume
- 447
- Category
- Article
- ISSN
- 0304-3940
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## Abstract Spinocerebellar ataxias are heterogeneous disorders with overlapping clinical features. Spinocerebellar ataxiaβ6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings. We report on two patient
## Abstract We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gazeβevoked nystagmus. They carried the identical mutation (the number of expanded CAG repe