ReviewThe Lancet. Neurology2013
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.
Review in The Lancet. Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 204 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
204 citing papers in PubMed, 3 syntheses or guidelines pooled it, 309 citations in OpenAlex.
- Pooled it
- Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.Frontiers in psychiatry · 2021Pooled it
- Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review.Neuropsychology review · 2014Pooled 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 Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial.Scientific reports · 2016Trial
- 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
- The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery.Stem cells translational medicine · 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
- FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review.Movement disorders clinical practice · 2026Article
- Using Multinodal Deep Brain Stimulation for Treatment of Complex Movement Disorders: Initial Case Series.Operative neurosurgery (Hagerstown, Md.) · 2026Article
- Autonomic Nervous System Function and Sensory Sensitivity in 12-Month-Old Infants with theInternational journal of molecular sciences · 2026Article
- The role of FMR1 mRNA structure on the efficiency of non-canonical translation of toxic polyglycine protein.Nucleic acids research · 2026Article
- Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan.BMC genomic data · 2026Article
- The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.Neurobiology of disease · 2026Article
- Semantic and Syntactic Language Differences Associated with theJournal of neurolinguistics · 2026Article
- Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.International journal of molecular sciences · 2026Review
- Involvement of the Cerebellar Peduncles inInternational journal of molecular sciences · 2025Review
- Beyond Repetition: The Role of Gray Zone Alleles in the Upregulation ofInternational journal of molecular sciences · 2025Article
- Mitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers-Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways.Current issues in molecular biology · 2025Review
- MR-Guided Focused Ultrasound for the Treatment of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome.Movement disorders clinical practice · 2025Article
144 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (>200 repeats) of a non-coding CGG-repeat element. Smaller, so-called premutation expansions (55-200 repeats) can cause a family of neurodevelopmental phenotypes (attention deficit hyperactivity disorder, autism spectrum disorder, seizure disorder) and neurodegenerative (fragile X-associated tremor/ataxia syndrome [FXTAS]) phenotypes through an entirely distinct molecular mechanism involving increased FMR1 mRNA production and toxicity. Results of basic cellular, animal, and human studies have helped to elucidate the underlying RNA toxicity mechanism, while clinical research is providing a more nuanced picture of the range of clinical manifestations. Advances of knowledge on both mechanistic and clinical fronts are driving new approaches to targeted treatment, but two important necessities are emerging: to define the extent to which the mechanisms contributing to FXTAS also contribute to other neurodegenerative and medical disorders, and to redefine FXTAS in view of its differing presentations and associated features.
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What OpenQuestion holds
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.