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Article

Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia.

Journal of neurogenetics - 1 Jan 2000

Adams Sara A, Steenblock Kelle J, Thibodeau Stephen N, Lindor Noralane M

Abstract excerpt

To determine the prevalence of Fragile X-associated Tremor Ataxia Syndrome (FXTAS) among men with undiagnosed ataxic disorders. PCR amplification of CGG repeats in the FMR1 gene and a chart review of clinical features were performed for 286 male subjects who had non diagnostic genetic testing for spinocerebellar ataxia between November 1998 and October 2002 prior to widespread clinical testing of FXTAS. Chart...

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Source

Identifiers

PMID: 18363164
DOI: 10.1080/01677060701686242

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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Click a neighbor to travelStep 1 · 12 closest

Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia.PMID 18363164Read ↗

Premutations in the FMR1 gene in Serbian patients with undetermined tremor, ataxia and parkinsonism.Semantic proximity Read ↗

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

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

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.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 ↗

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

Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS).Semantic proximity Read ↗

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

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

Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.Semantic proximity Read ↗

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.Semantic proximity Read ↗

Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism.Semantic proximity Read ↗

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