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Article

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.

Molecular neurobiology - 1 Jun 2007

Rodriguez-Revenga Laia, Gómez-Anson Beatriz, Muñoz Esteban, Jiménez Dolores, Santos Monica, Tintoré Mar, Martín Gisela, Brieva Luis, Milà Montserrat

Abstract excerpt

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder characterized by progressive action tremor and ataxia that occurs in premutation carriers of the FMR1 gene. The incidence of FMR1 premutated carriers in the general population is relatively high, and therefore FXTAS might explain a considerable number of sporadic, late-onset ataxias. To better establish the prevalence of FXTAS among...

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Source

Identifiers

PMID: 17917121
DOI: 10.1007/s12035-007-0020-3

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.

Related research

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FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.PMID 17917121Read ↗

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.Semantic proximity Read ↗

[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].Semantic proximity Read ↗

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.Semantic proximity Read ↗

[Tremor/ataxia syndrome related to Fragile X premutation].Semantic proximity Read ↗

Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation.Semantic proximity Read ↗

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.Semantic proximity Read ↗

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.Semantic proximity Read ↗

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FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.Semantic proximity Read ↗

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