Article
Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.
Cerebellum (London, England) - 1 Mar 2009
Yoshida Kunihiro, Shimizu Yusaku, Morita Hiroshi, Okano Tomomi, Sakai Haruya, Ohata Takako, Matsumoto Naomichi, Nakamura Katsuya, Tazawa Ko-ichi, Ohara Shinji, Tabata Kenichi, Inoue Atsushi, Sato Shunichi, Shimojima Yasuhiro, Hattori Takeshi, Ushiyama Masao, Ikeda Shu-ichi
Abstract excerpt
16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of the main island of Japan, 16q-ADCA and spinocerebellar ataxia type 6 (SCA6) are the most and second most prevalent subtypes of ADCA, respectively. Both subtypes...
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