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Article

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

Cerebellum (London, England) - 13 Feb 2026

Berglund Sofia, Hashim Farouk, Laffita-Mesa José, Malmgren Helena, Anderlid Britt-Marie, Granberg Tobias, Sjöström Henrik, Svenningsson Per, Paucar Martin

Abstract excerpt

Pathological CGG expansions in the FMR1 gene, encompassing premutations (55–200 repeats) and full range mutations (> 200 repeats), cause a spectrum of complex and incurable disorders. Premutation carriers (PMC), particularly men, face the risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS). Other conditions associated with premutations in FMR1 include both Fragile X-associated primary ovarian...

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Source

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Identifiers

PMID: 41686285
DOI: 10.1007/s12311-026-01968-6
PMCID: PMC12904899

Genes

FMR1
CCS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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