Discover Community Create You

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

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).

Journal of medical genetics - 1 Jul 2022

Martin Ellenore M, Zhu Ying, Kraan Claudine M, Kumar Kishore R, Godler David E, Field Michael

Abstract excerpt

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset condition characterised by cerebellar ataxia and intention tremor, usually found in individuals with FMR1 premutation alleles (PM-CGG expansion of 55-199 repeats). Population studies estimate that between 1 in 250 and 1 in 1600 men have a PM, with up to 45% of these men suggested to develop FXTAS by age 80. We used a Bayesian approach to compare...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bayes Theorem

Share to Cerebellar Ataxia

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Tremor

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 34321326
DOI: 10.1136/jmedgenet-2021-107758

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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).PMID 34321326Read ↗

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

Size bias of fragile X premutation alleles in late-onset movement disorders.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 ↗

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

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

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

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

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

The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.Semantic proximity Read ↗

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

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