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Article

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.

Movement disorders : official journal of the Movement Disorder Society - 15 Jul 2008

Stolle Catherine A, Frackelton Edward C, McCallum Jennifer, Farmer Jennifer M, Tsou Amy, Wilson Robert B, Lynch David R

Abstract excerpt

Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the FRDA gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by long-range PCR. Sequence analysis of the small allele revealed multiple, complex interruptions in the GAA repeat. These 2 patients presented...

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Source

Identifiers

PMID: 18464277
DOI: 10.1002/mds.22012

Genes

GAA

Provenance

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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