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

FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review.

Movement disorders clinical practice - 1 Sept 2026

Schmidmajer Amy, Páez-García Salomón, Martínez Santiago, Ramírez-Triana Jacobo, O'Hara-Veintimilla Kevin, Ricaurte-Fajardo Andrés, Cerquera-Cleves Catalina

Abstract excerpt

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by FMR1 premutation expansions (55-200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to molecular diagnostics, and scarce epidemiological data. OBJECTIVE: To...

Read the complete abstract on PubMed

Topics

Humans
Fragile X Messenger Ribonucleoprotein 1
Fragile X Syndrome
Ataxia
Phenotype
Latin America

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Tremor

Female

Source

Open in PubMed Open full text

Identifiers

PMID: 41937418
DOI: 10.1002/mdc3.70617
PMCID: PMC13339662

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review.PMID 41937418Read ↗

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 ↗

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

Fragile X syndrome: a review of clinical and molecular diagnoses.Semantic proximity Read ↗

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

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration.Semantic proximity Read ↗

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.Semantic proximity Read ↗

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

Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment.Semantic proximity Read ↗

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.Semantic proximity Read ↗

Women with Fragile X–associated Tremor/Ataxia SyndromeSemantic 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 ↗

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