SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

doi:10.1016/s0022-510x(98)00009-4

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Article

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

Journal of the neurological sciences - 1 Jan 1998

Yabe I, Sasaki H, Matsuura T, Takada A, Wakisaka A, Suzuki Y, Fukazawa T, Hamada T, Oda T, Ohnishi A, Tashiro K

Abstract excerpt

Spinocerebellar ataxia type 6 (SCA6) is caused by small CAG repeat expansion in the gene encoding the alpha1A-voltage-dependent-calcium channel subunit (CACNLIA4) on chromosome 19p13, and is a subgroup of the late-onset pure cerebellar ataxia (ADCA III). To investigate the prevalence of SCA6 in t...

Topics

Adult
Age of Onset
Aged
Alleles
Ataxin-1
Ataxins
Calcium Channels
Cerebellar Ataxia
Chromosomes, Human, Pair 19
Cohort Studies
DNA Mutational Analysis
Female
Gene Frequency
Humans
Japan
Male
Middle Aged
Nerve Tissue Proteins

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Open in PubMed

Identifiers

PMID: 9559993
DOI: 10.1016/s0022-510x(98)00009-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9559993-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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