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• W2150101606 abstract "<b>Background:</b> Fragile X-associated tremor/ataxia syndrome (FXTAS), caused by premutation expansions (55–200 CGG repeats) of the <i>FMR1</i> 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. <b>Methods:</b> A meta-analysis was conducted of all published (n = 14) genetic screens for expanded <i>FMR1</i> alleles to assess the prevalence and CGG-repeat size bias of <i>FMR1</i> premutation alleles in those populations. <b>Results:</b> In 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. <b>Conclusions:</b> Expanded <i>FMR1</i> alleles contribute to cases of late-onset sporadic cerebellar ataxia, suggesting that <i>FMR1</i> genetic testing should be carried out in such cases. The biased distribution of <i>FMR1</i> 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." @default.
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• W2150101606 date "2006-03-29" @default.
• W2150101606 modified "2023-10-16" @default.
• W2150101606 title "Size bias of fragile X premutation alleles in late-onset movement disorders" @default.
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• W2150101606 doi "https://doi.org/10.1136/jmg.2006.042374" @default.
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