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Article

Friedreich ataxia: the clinical picture.

Journal of neurology - 1 Mar 2009

Pandolfo Massimo

Abstract excerpt

Friedreich ataxia (FRDA) is a rare autosomal recessive hereditary disorder that affects approximately 1 in 50,000 Caucasians. It is caused by hyperexpansion of GAA repeats in the first intron of the frataxin gene. Initial symptoms of FRDA usually appear around the beginning of the second decade o...

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Identifiers

PMID: 19283344
DOI: 10.1007/s00415-009-1002-3

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19283344-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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