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Article

Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.

Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2004

Badhwar Amanpreet, Jansen An, Andermann Frederick, Pandolfo Massimo, Andermann Eva

Abstract excerpt

We report on a Friedreich's ataxia (FA) family with 3 affected siblings with markedly different phenotypic presentations, including one with spastic paraplegia. Molecular analysis showed midsize GAA repeat expansion sizes in all 3 individuals. Gait spasticity in FA, although rare, has been descri...

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Source

Identifiers

PMID: 15514925
DOI: 10.1002/mds.20264

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15514925-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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