Article
Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.
Neurogenetics - 1 Jul 2016
Platonov Fedor A, Tyryshkin Kathrin, Tikhonov Dmitriy G, Neustroyeva Tatyana S, Sivtseva Tatyana M, Yakovleva Natalya V, Nikolaev Valerian P, Sidorova Oksana G, Kononova Sardana K, Goldfarb Lev G, Renwick Neil M
Abstract excerpt
Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100,000 rural population. The age at death correlates closely with the number of CAG triplet repeats in the mutant ATXN1 gene (r = -0.81); most patients with...
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