Adult onset spinocerebellar ataxia linked to HLA in a South African kindred of mixed ancestry.

doi:10.1111/j.1399-0039.1992.tb02101.x

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Article

Adult onset spinocerebellar ataxia linked to HLA in a South African kindred of mixed ancestry.

Tissue antigens - 1 Sept 1992

Bryer A, Martell R W, du Toit E D, Beighton P

Abstract excerpt

Hereditary spinocerebellar ataxia (SCA) is a relatively common disorder in the Western Cape region of South Africa. At present there are no genetic markers available for prenatal or presymptomatic diagnosis. A large kindred of mixed ancestry with late onset SCA was studied in which the disorder segregated in an autosomal dominant fashion. HLA typing was undertaken on 44 family members, and the HLA haplotypes were...

Topics

Adolescent
Adult
Chromosomes, Human, Pair 6
Female
Genes, Dominant
Genetic Markers
Genetic Predisposition to Disease
HLA Antigens
Haplotypes
Humans
Lod Score
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Pedigree

Racial Groups

Recombination, Genetic

South Africa

Spinocerebellar Degenerations

Source

Open in PubMed

Identifiers

PMID: 1440565
DOI: 10.1111/j.1399-0039.1992.tb02101.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1440565-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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