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Article

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

Archives of neurology - 1 Jun 2005

Biancalana Valérie, Toft Mathias, Le Ber Isabelle, Tison François, Scherrer Elisabeth, Thibodeau Stephen, Mandel Jean Louis, Brice Alexis, Farrer Matthew J, Dürr Alexandra

Abstract excerpt

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS), a novel disorder in male carriers of premutations of the fragile X mental retardation 1 gene (FMR1), was recently described. The clinical presentation of FXTAS most closely resembles multiple system atrophy (MSA) because both disorders manifest with cerebellar ataxia, intention tremor, autonomic dysfunction, and parkinsonism. It has been proposed...

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Source

Identifiers

PMID: 15956167
DOI: 10.1001/archneur.62.6.962

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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