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Article

Spinocerebellar ataxia type 1 in Russia.

Journal of neurology - 1 Jul 1996

Illarioshkin S N, Slominsky P A, Ovchinnikov I V, Markova E D, Miklina N I, Klyushnikov S A, Shadrina M, Vereshchagin N V, Limborskaya S A, Ivanova-Smolenskaya I A

Abstract excerpt

Spinocerebellar ataxia type 1 (SCA1) is one form of autosomal dominant cerebellar ataxia (ADCA) caused by trinucleotide (CAG) repeat expansion within a mutant gene. We investigated 25 patients from 15 Russian ADCA families for SCA1 mutation and found an expanded CAG repeat in 5 families. Mutant chromosomes contained 41-51 CAG repeats (mean 46.1, SD 3.1), and normal chromosomes displayed 21-27 repeat units (mean...

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PMID: 8836939
DOI: 10.1007/BF00886871

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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