SynthesisJournal of medical genetics2006
Size bias of fragile X premutation alleles in late-onset movement disorders.
Synthesis in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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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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Who cites it
46 citing papers in PubMed, 116 citations in OpenAlex.
- Tandem repeat disorders: from diagnosis to emerging therapeutic strategies.Encephalitis (Seoul, Korea) · 2025Article
- Advances in human pluripotent stem cell reporter systems.iScience · 2024Review
- Review
- Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.Cerebellum (London, England) · 2022Article
- Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.Cerebellum (London, England) · 2022Article
- Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Study of telomere length in men who carry a fragile X premutation or full mutation allele.Human genetics · 2020Article
- Women with Fragile X-associated Tremor/Ataxia Syndrome.Movement disorders clinical practice · 2020Article
- Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series.Biomedicines · 2020Article
- Fragile X syndrome carrier screening in pregnant women in Chinese Han population.Scientific reports · 2019Observational
- Prevalence of fragile X-associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs.Brain and behavior · 2019Article
- Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers.Journal of neurodevelopmental disorders · 2019Article
- [Genetics of tremor].Der Nervenarzt · 2018Review
- Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.American journal of medical genetics. Part A · 2017Article
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.Cerebellum (London, England) · 2016Review
- Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.Genes · 2016Article
- A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
- Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.Human molecular genetics · 2013Article
- RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome.Brain research · 2012Review
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundFragile X-associated tremor/ataxia syndrome (FXTAS), caused by premutation expansions (55-200 CGG repeats) of the FMR1 gene, shares clinical features with other movement disorders, particularly in the domains of gait ataxia, intention tremor and parkinsonism. However, the prevalence of FXTAS within other diagnostic categories is not well defined.
methodsA meta-analysis was conducted of all published (n = 14) genetic screens for expanded FMR1 alleles to assess the prevalence and CGG-repeat size bias of FMR1 premutation alleles in those populations.
resultsIn men with late-onset cerebellar ataxia, the prevalence of premutation alleles (1.5%; 16/1049) was 13 times greater than expected based on its prevalence in the general population (2%; 16/818 for age of onset >50 years; odds ratio 12.4; 95% confidence interval 1.6 to 93.5). Meta-analysis of CGG-repeat data for screened patients with premutation alleles shows a shift to larger repeat size than in the general population (p<0.001). 86% (19/22) of premutation alleles were larger than 70 repeats in the patients screened, whereas only approximately 22% of premutation alleles are larger than 70 repeats in the general population.
conclusionsExpanded FMR1 alleles contribute to cases of late-onset sporadic cerebellar ataxia, suggesting that FMR1 genetic testing should be carried out in such cases. The biased distribution of FMR1 allele sizes has substantial implications for genetic counselling of carriers with smaller alleles who are at a low risk of developing FXTAS, and suggests that the estimated prevalence of FXTAS among men >50 years of age in the general population may be two to threefold lower than the initial figure of 1 in 3000.
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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.