{"id":1649,"date":"2021-08-01T15:08:36","date_gmt":"2021-08-01T15:08:36","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1649"},"modified":"2026-02-23T21:15:23","modified_gmt":"2026-02-23T21:15:23","slug":"men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/01\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\/","title":{"rendered":"Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor\/ataxia syndrome (FXTAS) (Contributed by Elle Martin)"},"content":{"rendered":"<p>Fragile X-associated tremor\/ataxia syndrome (FXTAS) is a late-onset neurodegenerative condition, predominantly affecting males with a Fragile X premutation (CGG expansion in the FMR1 gene of 55-199 repeats).<\/p>\n<p>Current penetrance estimates are based on data from premutation carriers with larger than average CGG repeat size (&gt;70) and suggest up to 45% of males will develop FXTAS by age 80. We used a Bayesian approach to further stratify risk based on repeat size, finding an estimated penetrance of less than 1% for males with \u226470 CGGs.<\/p>\n<p>Our findings contribute to the understanding of FXTAS risk, and may aid in more accurate genetic counselling for premutation carriers. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/07\/28\/jmedgenet-2021-107758\">https:\/\/jmg.bmj.com\/content\/early\/2021\/07\/28\/jmedgenet-2021-107758<\/a> )<\/p>\n<p>&nbsp;<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Fragile X-associated tremor\/ataxia syndrome (FXTAS) is a late-onset neurodegenerative condition, predominantly affecting males with a Fragile X premutation (CGG expansion in the FMR1 gene of 55-199 repeats). Current penetrance estimates are based on data from premutation carriers with larger than average CGG repeat size (&gt;70) and suggest up to 45% of males will develop FXTAS [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/01\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1649","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor\/ataxia syndrome (FXTAS) (Contributed by Elle Martin) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/01\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor\/ataxia syndrome (FXTAS) (Contributed by Elle Martin) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Fragile X-associated tremor\/ataxia syndrome (FXTAS) is a late-onset neurodegenerative condition, predominantly affecting males with a Fragile X premutation (CGG expansion in the FMR1 gene of 55-199 repeats). Current penetrance estimates are based on data from premutation carriers with larger than average CGG repeat size (&gt;70) and suggest up to 45% of males will develop FXTAS [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/01\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-08-01T15:08:36+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:15:23+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/01\\\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/01\\\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor\\\/ataxia syndrome (FXTAS) (Contributed by Elle Martin)\",\"datePublished\":\"2021-08-01T15:08:36+00:00\",\"dateModified\":\"2026-02-23T21:15:23+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/01\\\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\\\/\"},\"wordCount\":137,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/01\\\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/01\\\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/01\\\/men-with-fmr1-premutation-alleles-of-less-than-71-cgg-repeats-have-low-risk-of-being-affected-with-fragile-x-associated-tremor-ataxia-syndrome-fxtas\\\/\",\"name\":\"Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor\\\/ataxia syndrome (FXTAS) (Contributed by Elle Martin) - 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