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

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

International journal of molecular sciences - 20 Jun 2020

Cabal-Herrera Ana Maria, Tassanakijpanich Nattaporn, Salcedo-Arellano Maria Jimena, Hagerman Randi J

Abstract excerpt

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in older premutation (55-200 CGG repeats) carriers of FMR1. The premutation has excessive levels of FMR1 mRNA that lead to toxicity and mitochondrial dysfunction. The clinical features usually begin in the 60 s with an action or intention tremor followed by cerebellar ataxia, although 20% have only ataxia. MRI features...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Atrophy

Share to Early Diagnosis

Share to Fragile X Syndrome

Share to Sex Characteristics

Share to Tremor

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 32575683
DOI: 10.3390/ijms21124391
PMCID: PMC7352421

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.PMID 32575683Read ↗

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

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

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

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

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

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

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

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

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.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 (FXTAS) with dementia in a female harbouring FMR1 premutation.Semantic proximity Read ↗

Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates.Semantic proximity Read ↗

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