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Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families

✍ Scribed by Yusaku Shimizu; Kunihiro Yoshida; Tomomi Okano; Shinji Ohara; Takao Hashimoto; Yoshimitsu Fukushima; Shu-ichi Ikeda

Publisher: Nature Publishing Group
Year: 2004
Tongue: English
Weight: 449 KB
Volume: 49
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s10038-004-0196-6

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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