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Article

Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease.

Journal of the neurological sciences - 1 Mar 1996

Watanabe M, Abe K, Aoki M, Kameya T, Kaneko J, Shoji M, Ikeda M, Shizuka M, Ikeda Y, Iizuka T, Hirai S, Itoyama Y

Abstract excerpt

There are currently some types of autosomal dominant cerebellar ataxias such as Machado-Joseph disease (MJD), spinocerebellar ataxia types 1-5 (SCA1-5), or hereditary dentatorubropallidoluysian atrophy. It is very important for these ataxias to be clinically differentiated, but that is sometimes difficult. In particular, the differential diagnosis between MJD and SCA1 is thought to be the most difficult....

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PMID: 8815156
DOI: 10.1016/0022-510x(95)00307-n

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

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Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease.PMID 8815156Read ↗

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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 ↗

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 ↗

The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease.Semantic proximity Read ↗

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.Semantic proximity Read ↗

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