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Article

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

European journal of human genetics : EJHG - 1 Jan 2005

Van Esch Hilde, Dom Rene, Bex Dorien, Salden Ivo, Caeckebeke Jo, Wibail Alain, Borghgraef Martine, Legius Eric, Fryns Jean-Pierre, Matthijs Gert

Abstract excerpt

Recently, Hagerman et al described the occurrence of a late-onset neurological disorder in five male carriers of the fragile-X (FMR-1) premutation. The major characteristics of this disorder, designated the Fragile-X Tremor Ataxia Syndrome (FXTAS), are progressive intention tremor, cerebellar ataxia and cognitive decline. Most cases of FXTAS published thus far were ascertained through families with a known...

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Identifiers

PMID: 15483640
DOI: 10.1038/sj.ejhg.5201312

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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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Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.PMID 15483640Read ↗

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