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Article

Machado-Joseph disease in three Scandinavian families.

Journal of the neurological sciences - 1 Apr 1998

Løkkegaard T, Nielsen J E, Hasholt L, Fenger K, Werdelin L, Tranebjaerg L, Lauritzen M, Colding-Jørgensen E, Grønbech-Jensen M, Henriksen O A, Sørensen S A

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominantly inherited neurodegenerative disorder characterized by varying age of onset and pronounced phenotypic heterogeneity. The clinical core features include gait ataxia, external ophthalmoplegia, nystagmus, and bulging eyes. Recently, Kawagushi et...

Topics

Adult
Aged
Ataxin-3
Dementia
Female
Humans
Machado-Joseph Disease
Male
Middle Aged
Nerve Tissue Proteins
Nuclear Proteins
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repressor Proteins

Scandinavian and Nordic Countries

Trinucleotide Repeats

Source

Identifiers

PMID: 9588850
DOI: 10.1016/s0022-510x(98)00081-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9588850-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Machado-Joseph disease in three Scandinavian families.PMID 9588850Read ↗

Machado‐joseph disease: Clinical, molecular, and metabolic characterization in chinese kindredsSemantic proximity Read ↗

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.Semantic proximity Read ↗

Electrophysiological findings in a Danish family with Machado-Joseph disease.Semantic proximity Read ↗

A large Japanese family with Machado-Joseph disease: clinical and genetic analysis.Semantic proximity Read ↗

Machado-Joseph Disease: from first descriptions to new perspectives.Semantic proximity Read ↗

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.Semantic proximity Read ↗

CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.Semantic proximity Read ↗

A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.Semantic proximity Read ↗

Machado-Joseph disease: an autosomal dominant motor system degeneration.Semantic proximity Read ↗

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Semantic proximity Read ↗

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.Semantic proximity Read ↗

A clinical and pathologic study of a large Japanese family with Machado‐ Joseph disease tightly linked to the DNA markers on chromosome 14qSemantic proximity Read ↗

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