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Article

Premutation Females with preFXTAS.

International journal of molecular sciences - 20 Mar 2025

Liani Valentina, Torrents Carme, Rolleri Elisa, Yusoff Nor Azyati, Likhitweerawong Narueporn, Moore Sydney, Tassone Flora, Schneider Andrea, Santos Ellery, Biag Hazel M B, Bourgeois James A, Unruh Kathryn E, Mosconi Matthew W, Hagerman Randi J

Abstract excerpt

Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial symptoms of FXTAS typically manifest in males around the age of 60 with motor symptoms and cognitive deficits, the presentation and progression in females differ. Women, in fact,...

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Identifiers

PMID: 40141467
DOI: 10.3390/ijms26062825
PMCID: PMC11942631

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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