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Article

Clinical and genetic abnormalities in patients with Friedreich's ataxia.

The New England journal of medicine - 17 Oct 1996

Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel J L, Brice A, Koenig M

Abstract excerpt

BACKGROUND: Friedreich's ataxia, the most common inherited ataxia, is associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin gene on chromosome 9, which encodes a protein of unknown function. METHODS: We studied 187 patients with autos...

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Source

Identifiers

PMID: 8815938
DOI: 10.1056/NEJM199610173351601

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8815938-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Clinical and genetic abnormalities in patients with Friedreich's ataxia.PMID 8815938Read ↗

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Somatic instability of the expanded GAA repeats in Friedreich’s ataxiaSemantic proximity Read ↗

Clinical features of Friedreich ataxia.Semantic proximity Read ↗

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.Semantic proximity Read ↗

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.Semantic proximity Read ↗

Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates.Semantic proximity Read ↗

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The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.Semantic proximity Read ↗

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