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Article

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

Brain : a journal of neurology - 1 Dec 1997

Schöls L, Amoiridis G, Przuntek H, Frank G, Epplen J T, Epplen C

Abstract excerpt

Friedreich's ataxia is an autosomal recessively inherited neurodegenerative disorder caused by expansions of an unstable GAA trinucleotide repeat in the STM7/X25 gene on chromosome 9q. We studied the (GAA)n polymorphism in 178 healthy controls and 102 patients with idiopathic ataxia. The repeat size ranged from 7 to 29 (GAA)n motifs on normal chromosomes and from 66 to 1360 trinucleotide repetitions in...

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Identifiers

PMID: 9448568
DOI: 10.1093/brain/120.12.2131

Genes

GAA

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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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