ArticleAmerican journal of medical genetics. Part A2008
Expanded clinical phenotype of women with the FMR1 premutation.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 191 papers, 1 of them a synthesis that pooled it.
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Who cites it
191 citing papers in PubMed, 1 synthesis or guideline pooled it, 348 citations in OpenAlex.
- Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature.Frontiers in genetics · 2019Pooled it
- FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Trial
- Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial.The Journal of clinical psychiatry · 2014Trial
- FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review.Movement disorders clinical practice · 2026Article
- Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype.Neurobiology of disease · 2026Article
- Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.Cerebellum (London, England) · 2026Article
- Essential tremor-like phenotype in Fragile X carrier women.Clinical parkinsonism & related disorders · 2026Article
- Chronic pain, fatigue, and emotional distress in femaleFrontiers in molecular neuroscience · 2026Article
- Parental report-based assessment of sleep problems and mental health in an unreferred cohort of children with a fragile X premutation.Frontiers in molecular neuroscience · 2026Article
- Use of the Behavioral Dyscontrol Scale-2 (BDS-2) to measure executive dysfunction in FXTAS.Frontiers in molecular neuroscience · 2026Article
- Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice.Brain : a journal of neurology · 2025Article
- Premutation Females with preFXTAS.International journal of molecular sciences · 2025Article
- Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.Molecular genetics & genomic medicine · 2024Article
- Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.Orphanet journal of rare diseases · 2024Article
- Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation.Frontiers in neurology · 2024Article
- Review
- Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.Experimental brain research · 2023Article
- An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers ofFrontiers in neurology · 2023Article
- Social and physical predictors of mental health impact in adult women who have anGenetics in medicine open · 2023Article
131 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, we evaluated 146 female carriers (mean, 42.3 years; range, 20-75 years) with and without core features of FXTAS (tremor; gait ataxia), and 69 age-matched controls (mean, 45.8 years; range, 21-78 years). Compared with controls, carriers with definite or probable FXTAS had greater medical co-morbidity, with increased prevalence of thyroid disease (P = 0.0096), hypertension (P = 0.0020), seizures (P = 0.0077), peripheral neuropathy (P = 0.0040), and fibromyalgia (P = 0.0097), in addition to the typical symptoms of FXTAS-tremor (P < 0.0001) and ataxia (P < 0.0001). The non-FXTAS premutation group had more complaints of chronic muscle pain (P = 0.0097), persistent paraesthesias in extremities (P < 0.0001), and history of tremor (P < 0.0123) than controls. The spectrum of clinical involvement in female carriers with FXTAS is quite broad, encompassing a number of medical co-morbidities as well as the core movement disorder. The remarkable degree of thyroid dysfunction (17% in the non-FXTAS group and 50% in the FXTAS group) warrants consideration of thyroid function studies in all female premutation carriers, particularly those with core features of FXTAS.
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Registered trials
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.