ArticleTremor and other hyperkinetic movements (New York, N.Y.)2012
Current Gaps in Understanding the Molecular Basis of FXTAS.
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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.
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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
19 citing papers in PubMed, 27 citations in OpenAlex.
- Involvement of the Cerebellar Peduncles inInternational journal of molecular sciences · 2025Review
- Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome.Frontiers in genetics · 2022Review
- Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome.Movement disorders clinical practice · 2020Article
- ATP11B deficiency leads to impairment of hippocampal synaptic plasticity.Journal of molecular cell biology · 2019Article
- Repeat-associated non-AUG (RAN) translation: insights from pathology.Laboratory investigation; a journal of technical methods and pathology · 2019Review
- Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation.Neurobiology of aging · 2017Article
- Article
- Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics.Frontiers in cellular neuroscience · 2017Review
- Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS.Cerebellum (London, England) · 2016Article
- Fragile X-associated tremor/ataxia syndrome.Annals of the New York Academy of Sciences · 2015Review
- Visual motion processing deficits in infants with the fragile X premutation.Journal of neurodevelopmental disorders · 2014Article
- The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.Journal of neurodevelopmental disorders · 2014Review
- Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.The Lancet. Neurology · 2013Review
- Phenotypes of hypofrontality in older female fragile X premutation carriers.Annals of neurology · 2013Article
- Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.JAMA neurology · 2013Article
- Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Acta neuropathologica · 2013Review
- Intranuclear inclusions in a fragile X mosaic male.Translational neurodegeneration · 2013Article
- Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice.Human molecular genetics · 2013Article
- Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles.NeuroImage · 2013Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with defining clinical features that include kinetic tremor, gait ataxia, and parkinsonism, with associated features spanning medical, cognitive, and psychiatric clinical domains. The emerging model for the pathogenesis of FXTAS is that of RNA toxicity as a consequence of the sequestration of RNA binding proteins by the expanded CGG-repeat element within the FMR1 message, thus compromising the normal functions of those proteins. A principal challenge at this point is to determine precisely which proteins are involved in FXTAS pathogenesis and how to prevent or reverse this process. A second challenge is to determine why there is incomplete penetrance of FXTAS among premutation carriers with identical CGG-repeat lengths, and what the protective factors are in some carriers. Finally, the discovery in premutation mice of early neurodevelopmental abnormalities, some occurring even during late embryogenesis, raises the question of whether FXTAS is the end-stage of a life-long process of neuronal dysregulation. If an extended pre-clinical phase precedes the development of FXTAS, there is great potential for therapeutic intervention, years or even decades before its clinical features are manifest.
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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.