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Article

The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes?

Journal of the American College of Nutrition - 1 Dec 2004

Purdey Mark

Abstract excerpt

The origin of the progressive spinocerebellar ataxic disorder 'Machado Joseph Disease (MJD)' has been attributed solely to an expansion mutation resulting from an autosomal dominant inheritance of an unstable CAG repeat in chromosome 14q32.1 of the MJD gene that encodes for the synthesis of ataxin 3. The faulty gene has purportedly been disseminated since the Middle Ages into Azorean, Dutch and Makassan...

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Identifiers

PMID: 15637221
DOI: 10.1080/07315724.2004.10719415

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes?PMID 15637221Read ↗

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