ArticleClinical genetics2014
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.
Article in Clinical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
35 citing papers in PubMed.
- FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review.Movement disorders clinical practice · 2026Article
- Personalized Follow Up and Genetic Diagnosis Update ofInternational journal of molecular sciences · 2025Article
- Long-read sequencing reveals extensivebioRxiv : the preprint server for biology · 2025Article
- Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.Genes · 2024Article
- Review
- High performing male with fragile X syndrome with an unmethylatedClinical case reports · 2023Article
- Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.Nature reviews. Neurology · 2022Review
- Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.The application of clinical genetics · 2021Review
- The RNA-binding fragile-X mental retardation protein and its role beyond the brain.Biophysical reviews · 2020Review
- FMR1 mRNA from full mutation alleles is associated with ABC-CScientific reports · 2020Article
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.International journal of molecular sciences · 2020Review
- A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS.BMC neurology · 2020Review
- A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis.Nature neuroscience · 2020Article
- Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles.American journal of medical genetics. Part A · 2019Article
- Significantly ElevatedInternational journal of molecular sciences · 2019Article
- General Anesthetic Use in Fragile X Spectrum Disorders.Journal of neurosurgical anesthesiology · 2019Review
- Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis.Journal of neurodevelopmental disorders · 2019Article
- Pharmacological Reactivation of the SilencedBrain sciences · 2019Review
- CRISPR to the Rescue: Advances in Gene Editing for theBrain sciences · 2019Review
- Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.Molecular autism · 2019Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated full mosaic allele, who presented with a fast progressing FXTAS. This case suggests that the definition of FXTAS may need to be broadened to not only include those with a premutation but also those with an expanded allele in FM range with a lack of methylation leading to elevated FMR1-mRNA expression levels and subsequent RNA toxicity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.