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Article

Somatic instability of the expanded GAA repeats in Friedreich’s ataxia

19 Dec 2017

Abstract excerpt

Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. FRDA manifests with multiple symptoms, which may include ataxia, cardiomyopathy and diabetes mellitus. Expanded GAA tracts are genetically unstable, exhibiting both expansions and contractions. GAA length correlates with severity of FRDA...

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PMID: 29261783
DOI: 10.1371/journal.pone.0189990

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