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Article

Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia.

Journal of the neurological sciences - 15 Feb 2002

Berciano J, Mateo I, De Pablos C, Polo J M, Combarros O

Abstract excerpt

Around a quarter of Friedreich ataxia (FA) patients, despite being homozygous for GAA expansion within the FRDA gene, show atypical presentations. Our aim is to describe the case of three brothers with long-term follow-up suffering from late onset FA manifested with spastic ataxia. The three pati...

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Source

Identifiers

PMID: 11809170
DOI: 10.1016/s0022-510x(01)00681-5

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11809170-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

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