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Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family

✍ Scribed by H. Takahashi; Takeshi Ikeuchi; Yoshiaki Honma; Shintaro Hayashi; Shoji Tsuji


Publisher
Springer-Verlag
Year
1998
Tongue
English
Weight
428 KB
Volume
95
Category
Article
ISSN
0001-6322

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## 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