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Article

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.

Acta neuropathologica - 1 Feb 1999

Klopstock T, Chahrokh-Zadeh S, Holinski-Feder E, Meindl A, Gasser T, Pongratz D, Müller-Felber W

Abstract excerpt

Friedreich's ataxia (FA) is most frequently caused by intronic trinucleotide repeat expansions in the frataxin gene on chromosome 9. The broad clinical spectrum includes late-onset FA (LOFA) and FA with retained reflexes (FARR). The size of the GAA expansions accounts for most, but not all, of the clinical variability. We report the unusual occurrence of LOFA and FARR in two siblings of patients with classical...

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Identifiers

PMID: 9928824
DOI: 10.1007/s004010050966

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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Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.PMID 9928824Read ↗

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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.Semantic proximity Read ↗

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