ArticleGenes, brain, and behavior2012
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.
Article in Genes, brain, and behavior, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
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Who cites it
87 citing papers in PubMed, 1 synthesis or guideline pooled it, 124 citations in OpenAlex.
- Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review.Neuropsychology review · 2014Pooled it
- Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2014Trial
- Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Cognitive dysfunction in women with theJournal of Alzheimer's disease : JAD · 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
- Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome.Frontiers in molecular neuroscience · 2026Article
- Cognitive-behavioral phenotypes inFrontiers in molecular neuroscience · 2026Article
- DJ-1-mediated repression of the RNA-binding protein FMRP is predicted to impact known Alzheimer's disease-related protein networks.Journal of Alzheimer's disease : JAD · 2024Article
- FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.Annals of neurology · 2024Article
- Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation.Frontiers in neurology · 2024Article
- Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS.International journal of molecular sciences · 2023Article
- Review
- Executive Function and Working Memory Deficits in Females with Fragile X Premutation.Life (Basel, Switzerland) · 2023Article
- Sensorimotor and inhibitory control in agingFrontiers in human neuroscience · 2023Article
- Prosaccade and Antisaccade Behavior in Fragile X-Associated Tremor/Ataxia Syndrome Progression.Movement disorders clinical practice · 2022Article
- Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.Cerebellum (London, England) · 2022Article
- Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary Data.Brain sciences · 2021Article
- Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.Psychoneuroendocrinology · 2021Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males. In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post-mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur.
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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.