{"id":1918,"date":"2023-12-17T14:49:50","date_gmt":"2023-12-17T14:49:50","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1918"},"modified":"2026-02-22T23:47:55","modified_gmt":"2026-02-22T23:47:55","slug":"reduced-penetrance-of-gene-variants-causing-amyotrophic-lateral-sclerosis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/12\/17\/reduced-penetrance-of-gene-variants-causing-amyotrophic-lateral-sclerosis\/","title":{"rendered":"Reduced penetrance of gene variants causing amyotrophic lateral sclerosis (Contributed by Dr Andrew G. L. Douglas)"},"content":{"rendered":"<p>Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are incurable neurodegenerative diseases with shared pathology and genetics .\u00a0 We know how common ALS and FTD are, how often they run in families and how often specific genes are implicated.\u00a0 We used published literature and population-level data about genomic variation to calculate how common disease-causing variants are in four common ALS genes.\u00a0 We found more disease-causing variants in the population than expected, meaning many people carry such alterations without ever developing neurodegeneration.\u00a0 The reason for this remains unknown but it suggests existence of as-yet unidentified protective factors in the population. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/12\/16\/jmg-2023-109580\">https:\/\/jmg.bmj.com\/content\/early\/2023\/12\/16\/jmg-2023-109580<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/12\/17\/reduced-penetrance-of-gene-variants-causing-amyotrophic-lateral-sclerosis\/jmg-2023-109580-r1_graphic\/\" rel=\"attachment wp-att-1919\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1919\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/12\/jmg-2023-109580.R1_graphic-300x219.png\" alt=\"\" width=\"300\" height=\"219\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/12\/jmg-2023-109580.R1_graphic-300x219.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/12\/jmg-2023-109580.R1_graphic-768x561.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/12\/jmg-2023-109580.R1_graphic-640x468.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/12\/jmg-2023-109580.R1_graphic.png 813w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are incurable neurodegenerative diseases with shared pathology and genetics .\u00a0 We know how common ALS and FTD are, how often they run in families and how often specific genes are implicated.\u00a0 We used published literature and population-level data about genomic variation to calculate how common disease-causing variants [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/12\/17\/reduced-penetrance-of-gene-variants-causing-amyotrophic-lateral-sclerosis\/\">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-1918","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Reduced penetrance of gene variants causing amyotrophic lateral sclerosis (Contributed by Dr Andrew G. L. Douglas) - 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\/2023\/12\/17\/reduced-penetrance-of-gene-variants-causing-amyotrophic-lateral-sclerosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Reduced penetrance of gene variants causing amyotrophic lateral sclerosis (Contributed by Dr Andrew G. L. Douglas) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are incurable neurodegenerative diseases with shared pathology and genetics .\u00a0 We know how common ALS and FTD are, how often they run in families and how often specific genes are implicated.\u00a0 We used published literature and population-level data about genomic variation to calculate how common disease-causing variants [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/12\/17\/reduced-penetrance-of-gene-variants-causing-amyotrophic-lateral-sclerosis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-12-17T14:49:50+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:47:55+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/12\/jmg-2023-109580.R1_graphic.png\" \/>\n\t<meta property=\"og:image:width\" content=\"813\" \/>\n\t<meta property=\"og:image:height\" content=\"594\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2023\\\/12\\\/17\\\/reduced-penetrance-of-gene-variants-causing-amyotrophic-lateral-sclerosis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/12\\\/17\\\/reduced-penetrance-of-gene-variants-causing-amyotrophic-lateral-sclerosis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Reduced penetrance of gene variants causing amyotrophic lateral sclerosis (Contributed by Dr Andrew G. 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