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Article

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

Annals of neurology - 1 Apr 1996

Goldfarb L G, Vasconcelos O, Platonov F A, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vladimirtsev V A, Alexeev V P, Gajdusek D C

Abstract excerpt

A Siberian kindred with spinocerebellar ataxia genetically linked to the SCA1 locus on chromosome 6p has been screened for the CAG triplet expansion within the coding region of the SCA1 gene. The kindred includes 1,484 individuals, 225 affected and 656 at risk, making this collection the largest spinocerebellar ataxia type 1 (SCA1) pedigree known. Each of the studied 78 SCA1 patients carried an expanded allele...

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PMID: 8619528
DOI: 10.1002/ana.410390412

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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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