Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6)
β Scribed by Hirotsugu Harada; Akira Tamaoka; Masahiko Watanabe; Kinnya Ishikawa; Shin'ichi Shoji
- Book ID
- 119470121
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 204 KB
- Volume
- 160
- Category
- Article
- ISSN
- 0022-510X
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## 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
## Abstract SCA6 is a slowly progressive, lateβonset cerebellar ataxia due to a trinucleotide expansion in the __CACNA1A__ gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was Lβdopaβresponsive with a pattern of ^18^Fβdopa uptake similar to Park