Article
[The molecular genetic approach to the study of dominant spinocerebellar ataxias].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 1996
Illarioshkin S N, Ovchinnikov I V, Ivanova-Smolenskaia I A, Vereshchagin N V, Markova E D, Miklina N I, Kliushnikov S A
Abstract excerpt
At least 5 different genes of autosomal dominant spinocerebellar ataxias (SCA) were revealed recently. Their discovery permitted to elaborate the most perfect classification of this heterogeneous group of diseases. In two forms of ataxias (SCA1 and SCA3) the mutations consist in the expansion of CAG-trinucleotides repetitions. The Russian population of patients with dominant SCA (13 families) was examined for the...
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