Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

JAMA - 28 Jan 2004

Jacquemont Sébastien, Hagerman Randi J, Leehey Maureen A, Hall Deborah A, Levine Richard A, Brunberg James A, Zhang Lin, Jardini Tristan, Gane Louise W, Harris Susan W, Herman Kristin, Grigsby James, Greco Claudia M, Berry-Kravis Elizabeth, Tassone Flora, Hagerman Paul J

Abstract excerpt

CONTEXT: Premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are frequent in the general population, with estimated prevalences of 1 per 259 females and 1 per 813 males. Several articles have recently described the presence of late-onset neurological symp...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ataxia
Share to California

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repeat Expansion

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Neurologic Examination

Share to Tremor

Source

Identifiers

PMID: 14747503
DOI: 10.1001/jama.291.4.460

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14747503-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.PMID 14747503Read ↗

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

[Fragile X-associated tremor/ataxia syndrome].Semantic proximity Read ↗

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

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

Expanded clinical phenotype of women with the FMR1 premutation.Semantic proximity Read ↗

The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.Semantic proximity Read ↗

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

Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.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 ↗

Women with Fragile X–associated Tremor/Ataxia SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.