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Article

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.

American journal of human genetics - 1 May 2004

Hagerman R J, Leavitt B R, Farzin F, Jacquemont S, Greco C M, Brunberg J A, Tassone F, Hessl D, Harris S W, Zhang L, Jardini T, Gane L W, Ferranti J, Ruiz L, Leehey M A, Grigsby J, Hagerman P J

Abstract excerpt

We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS). Unlike their male counterparts with FXTAS, none of the women had dementia. Females ha...

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Source

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Identifiers

PMID: 15065016
DOI: 10.1086/420700
PMCID: PMC1181968

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15065016-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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