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Article

Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles.

Annals of neurology - 1 Dec 2004

Sharma Rajesh, De Biase Irene, Gómez Mariluz, Delatycki Martin B, Ashizawa Tetsuo, Bidichandani Sanjay I

Abstract excerpt

Friedreich ataxia patients are homozygous for expanded GAA triplet-repeats containing 66 to 1,700 triplets. We report two patients with delayed-onset, hyperreflexia and gradually progressive disease. Both were heterozygous for large expansions and also carried alleles with 44 and 66 triplet-repeats, respectively. Due to somatic instability, 15% (GAA-44) and 75% (GAA-66) of cells contained alleles with >/=66...

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Source

Identifiers

PMID: 15562408
DOI: 10.1002/ana.20333

Genes

GAA

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.

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