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Article

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2001

McDaniel D O, Keats B, Vedanarayanan V V, Subramony S H

Abstract excerpt

Friedreich's ataxia, the most common autosomal recessive inherited ataxia, is characterized by progressive gait and limb ataxia. Friedreich's ataxia is known for its occurrence within the first or second decade of life and is associated with hypertrophic cardiomyopathy, and in some cases with diabetes. Genetically, it is identified by the expression of an unstable trinucleotide GAA repeat expansion located in the...

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PMID: 11748752
DOI: 10.1002/mds.1210

Genes

GAA

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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.

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