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

The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1).

Genomics - 1 Jul 1992

Carson W J, Radvany J, Farrer L A, Vincent D, Rosenberg R N, MacLeod P M, Rouleau G A

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative spinocerebellar ataxia that has been described primarily in families of Azorean or Portuguese descent. MJD and chromosome 6p-linked spinocerebellar ataxia (SCA1) are difficult to differentiate clinically, and it has been suggested that they may be allelic variants of the same disorder. We have tested MJD families for linkage to six DNA...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Chromosomes, Human, Pair 6
Share to Genes, Dominant

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

Share to Genetic Markers

Share to Lod Score

Share to Spinocerebellar Degenerations

Source

Identifiers

PMID: 1639414
DOI: 10.1016/0888-7543(92)90168-r

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

The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1).PMID 1639414Read ↗

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.Semantic proximity Read ↗

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.Semantic proximity Read ↗

The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci.Semantic proximity Read ↗

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.Semantic proximity Read ↗

Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.Semantic proximity Read ↗

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.Semantic proximity Read ↗

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.Semantic proximity Read ↗

Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families.Semantic proximity Read ↗

Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD).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 ↗

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.Semantic proximity Read ↗

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