Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6
✍ Scribed by Hidetaka Watanabe; Fumiaki Tanaka; Michiyo Matsumoto; Manabu Doyu; Tetsuo Ando; Terunori Mitsuma; Gen Sobue
- Book ID
- 110887719
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 995 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0009-9163
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## Abstract The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Ser
## Abstract Autosomal dominant spinocerebellar ataxias (AD‐SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5′‐untranslated region of the __puratrophin‐1__ gene was found to be associated with one type of A