{"id":1829,"date":"2023-02-23T03:41:39","date_gmt":"2023-02-23T03:41:39","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1829"},"modified":"2026-02-23T00:19:09","modified_gmt":"2026-02-23T00:19:09","slug":"frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/02\/23\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\/","title":{"rendered":"Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 (Contributed by Dr Agust\u00edn Ib\u00e1\u00f1ez)"},"content":{"rendered":"<p>This study examined three separate Latin American families with frontotemporal dementia (FTD) and found that they all had the same genetic variation (p.H157Y) in the TREM2 gene. Compared to both sporadic FTD cases and healthy controls, the three patients displayed early behavioral changes, worse cognitive impairments, and more severe brain atrophy, particularly in areas where the TREM2 gene is expressed. One case also had motor neuron disease, with extensive TDP-43 type B pathology in the brain. These results suggest that the p.H157Y variation in TREM2 may contribute to FTD, particularly in populations that are underrepresented in research. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/02\/22\/jmg-2022-108627\">https:\/\/jmg.bmj.com\/content\/early\/2023\/02\/22\/jmg-2022-108627<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/02\/23\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\/untitled-65\/\" rel=\"attachment wp-att-1832\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1832\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/02\/Untitled-300x211.jpg\" alt=\"\" width=\"300\" height=\"211\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/02\/Untitled-300x211.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/02\/Untitled-1024x719.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/02\/Untitled-768x539.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/02\/Untitled-1536x1078.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/02\/Untitled-640x449.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/02\/Untitled.jpg 1573w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This study examined three separate Latin American families with frontotemporal dementia (FTD) and found that they all had the same genetic variation (p.H157Y) in the TREM2 gene. Compared to both sporadic FTD cases and healthy controls, the three patients displayed early behavioral changes, worse cognitive impairments, and more severe brain atrophy, particularly in areas where [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/02\/23\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\/\">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-1829","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>Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 (Contributed by Dr Agust\u00edn Ib\u00e1\u00f1ez) - 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\/02\/23\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 (Contributed by Dr Agust\u00edn Ib\u00e1\u00f1ez) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"This study examined three separate Latin American families with frontotemporal dementia (FTD) and found that they all had the same genetic variation (p.H157Y) in the TREM2 gene. Compared to both sporadic FTD cases and healthy controls, the three patients displayed early behavioral changes, worse cognitive impairments, and more severe brain atrophy, particularly in areas where [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/02\/23\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-02-23T03:41:39+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:19:09+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/02\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1573\" \/>\n\t<meta property=\"og:image:height\" content=\"1104\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/02\\\/23\\\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/02\\\/23\\\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 (Contributed by Dr Agust\u00edn Ib\u00e1\u00f1ez)\",\"datePublished\":\"2023-02-23T03:41:39+00:00\",\"dateModified\":\"2026-02-23T00:19:09+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/02\\\/23\\\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\\\/\"},\"wordCount\":129,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/02\\\/23\\\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/02\\\/Untitled-300x211.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/02\\\/23\\\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/02\\\/23\\\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/02\\\/23\\\/frontotemporal-dementia-presentation-in-patients-with-heterozygous-p-h157y-variant-of-trem2\\\/\",\"name\":\"Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 (Contributed by Dr Agust\u00edn Ib\u00e1\u00f1ez) - 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