Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families.

Human genetics - 1 Jul 1997

Ramesar R S, Bardien S, Beighton P, Bryer A

Abstract excerpt

The autosomal dominant late onset spinocerebellar ataxias (SCAs) are genetically heterogeneous. Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been isolated for SCA1, SCA2 and Machado-Joseph disease (MJD), respectively. In these three autosomal dominant disorders the mutation is an expanded CAG repeat. Evidence for heterogeneity in families not linked to the SCA1, SCA2 and MJD loci is provided by the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 6
Share to Haplotypes
Share to Lod Score

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Microsatellite Repeats

Share to Mutation

Share to Pedigree

Share to Recombination, Genetic

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 9225982
DOI: 10.1007/s004390050478

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families.PMID 9225982Read ↗

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?Semantic proximity Read ↗

The hereditary adult-onset ataxias in South Africa.Semantic proximity Read ↗

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageSemantic proximity Read ↗

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.Semantic proximity Read ↗

Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms.Semantic proximity Read ↗

A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci.Semantic proximity Read ↗

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.Semantic proximity Read ↗

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles.Semantic proximity Read ↗

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.Semantic proximity Read ↗

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.Semantic proximity Read ↗

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

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.