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Article

Phenotype variation correlates with CAG repeat length in SCA2--a study of 28 Japanese patients.

Journal of the neurological sciences - 14 Aug 1998

Sasaki H, Wakisaka A, Sanpei K, Takano H, Igarashi S, Ikeuchi T, Iwabuchi K, Fukazawa T, Hamada T, Yuasa T, Tsuji S, Tashiro K

Abstract excerpt

Spinocerebellar ataxia-2 (SCA2) is an autosomal dominant ataxia caused by an abnormal CAG repeat expansion in a novel gene on chromosome 12q24.1. The size of the mutant allele is unstable during transmission, and correlates inversely with age at onset. We studied eight Japanese SCA2 families, inc...

Topics

Adolescent
Adult
Age of Onset
Analysis of Variance
Chromosomes, Human, Pair 12
Female
Genes, Dominant
Genetic Variation
Humans
Japan
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Spinocerebellar Degenerations

Trinucleotide Repeats

Source

Identifiers

PMID: 9741408
DOI: 10.1016/s0022-510x(98)00166-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9741408-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Phenotype variation correlates with CAG repeat length in SCA2--a study of 28 Japanese patients.PMID 9741408Read ↗

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