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Article

[Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes].

Rinsho shinkeigaku = Clinical neurology - 1 Dec 1993

Sasaki H

Abstract excerpt

To study gene loci and disease phenotypes, 18 families with dominant OPCA were subjected for linkage analysis to SCA1- or SCA2-linked microsatellites. Total individuals consisted of 190. Among them, 77 were affected. Consequently, 10 families were 6p-linked, 7 were 12q-linked, and one was type-undetermined. These results indicate that the majority of dominant OPCA in Japan are composed with these two genotypes....

Topics

Chromosome Mapping
Female
Genetic Linkage
Haplotypes
Humans
Male
Olivopontocerebellar Atrophies
Phenotype
Spinocerebellar Degenerations

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8174326

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8174326-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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