Article
A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.
Journal of human genetics - 1 Jan 2004
Takahashi Hiroki, Ishikawa Kinya, Tsutsumi Takeshi, Fujigasaki Hiroto, Kawata Akihiro, Okiyama Ryoichi, Fujita Tsuneo, Yoshizawa Kazuo, Yamaguchi Shigeki, Tomiyasu Hitoshi, Yoshii Fumihito, Mitani Kazuko, Shimizu Natsue, Yamazaki Mineo, Miyamoto Tomoyuki, Orimo Tomoyuki, Shoji Shin'ichi, Kitamura Ken, Mizusawa Hidehiro
Abstract excerpt
In order to clarify the clinical and genetic features of SCA6, we retrospectively analyzed 140 patients. We observed an inverse correlation between the age of onset and the length of the expanded allele, and also between the age of onset and the sum of CAG repeats in the normal and the expanded alleles. The ages of onset of four homozygous patients correlated better with the sum of CAG repeats in both alleles...
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