{"id":1632,"date":"2021-05-08T14:21:56","date_gmt":"2021-05-08T14:21:56","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1632"},"modified":"2026-02-23T22:55:50","modified_gmt":"2026-02-23T22:55:50","slug":"genetic-testing-in-motor-neuron-disease-and-frontotemporal-dementia-a-5-year-multicentre-evaluation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/05\/08\/genetic-testing-in-motor-neuron-disease-and-frontotemporal-dementia-a-5-year-multicentre-evaluation\/","title":{"rendered":"Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation (Contributed by Dr Andrew G. L. Douglas)"},"content":{"rendered":"<p>Motor neurone disease (MND) is a neurodegenerative disorder that forms a disease spectrum with frontotemporal dementia (FTD). Affected MND\/FTD patients and their unaffected relatives are often referred to clinical genetics for genetic testing. Our service evaluation explored genetics testing practices over a five-year period and across ten UK genetics centres. 301 referrals were included, 70 affected patients and 231 unaffected relatives. When comparing our cohort with the UK Genomic Test Directory eligibility criteria, pathogenic <em>C9orf72<\/em> expansions would have been missed if the criteria were used alone. We have proposed MND\/FTD genetic testing guidelines taking into account appropriate genetic counselling. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/05\/07\/jmedgenet-2021-107776\">https:\/\/jmg.bmj.com\/content\/early\/2021\/05\/07\/jmedgenet-2021-107776<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/05\/08\/genetic-testing-in-motor-neuron-disease-and-frontotemporal-dementia-a-5-year-multicentre-evaluation\/figure_2\/\" rel=\"attachment wp-att-1633\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1633\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/05\/Figure_2-300x247.png\" alt=\"\" width=\"300\" height=\"247\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/05\/Figure_2-300x247.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/05\/Figure_2-1024x843.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/05\/Figure_2-768x632.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/05\/Figure_2-640x527.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/05\/Figure_2.png 1265w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Motor neurone disease (MND) is a neurodegenerative disorder that forms a disease spectrum with frontotemporal dementia (FTD). Affected MND\/FTD patients and their unaffected relatives are often referred to clinical genetics for genetic testing. Our service evaluation explored genetics testing practices over a five-year period and across ten UK genetics centres. 301 referrals were included, 70 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/05\/08\/genetic-testing-in-motor-neuron-disease-and-frontotemporal-dementia-a-5-year-multicentre-evaluation\/\">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-1632","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation (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\/2021\/05\/08\/genetic-testing-in-motor-neuron-disease-and-frontotemporal-dementia-a-5-year-multicentre-evaluation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation (Contributed by Dr Andrew G. L. Douglas) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Motor neurone disease (MND) is a neurodegenerative disorder that forms a disease spectrum with frontotemporal dementia (FTD). Affected MND\/FTD patients and their unaffected relatives are often referred to clinical genetics for genetic testing. Our service evaluation explored genetics testing practices over a five-year period and across ten UK genetics centres. 301 referrals were included, 70 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/05\/08\/genetic-testing-in-motor-neuron-disease-and-frontotemporal-dementia-a-5-year-multicentre-evaluation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-05-08T14:21:56+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T22:55:50+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/05\/Figure_2.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1265\" \/>\n\t<meta property=\"og:image:height\" content=\"1041\" \/>\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\\\/2021\\\/05\\\/08\\\/genetic-testing-in-motor-neuron-disease-and-frontotemporal-dementia-a-5-year-multicentre-evaluation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/05\\\/08\\\/genetic-testing-in-motor-neuron-disease-and-frontotemporal-dementia-a-5-year-multicentre-evaluation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation (Contributed by Dr Andrew G. 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