{"id":1977,"date":"2024-06-18T14:11:45","date_gmt":"2024-06-18T14:11:45","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1977"},"modified":"2026-02-22T01:44:05","modified_gmt":"2026-02-22T01:44:05","slug":"novel-tfg-mutation-causes-autosomal-dominant-spastic-paraplegia-and-defects-in-autophagy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/06\/18\/novel-tfg-mutation-causes-autosomal-dominant-spastic-paraplegia-and-defects-in-autophagy\/","title":{"rendered":"Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy (Contributed by Dr. Ling Xu)"},"content":{"rendered":"<p>Mutations in the tropomyosin receptor kinase fused (TFG) have been identified as contributing to several neurological disorders: hereditary spastic paraplegia (HSP), hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we describe a novel heterozygous TFG variant (p.R42Q) responsible for pure HSP. We have further confirmed that the well-documented, recessively inherited spastic paraplegia, previously attributed to homozygous TFG mutations, also exists in a dominantly inherited form. Notably, despite the distinct clinical features and muscle pathologies between HSP and HMSN-P patients, shared cellular phenotypes across different clinical manifestations caused by TFG mutations were observed. Our research suggests that targeting autophagy may facilitate the development of a uniform treatment for TFG-related neurological disorders. (<a href=\"https:\/\/jmg.bmj.com\/content\/61\/4\/325\">https:\/\/jmg.bmj.com\/content\/61\/4\/325<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/06\/18\/novel-tfg-mutation-causes-autosomal-dominant-spastic-paraplegia-and-defects-in-autophagy\/unnamed-15\/\" rel=\"attachment wp-att-1978\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1978\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/06\/unnamed-300x197.jpg\" alt=\"\" width=\"300\" height=\"197\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/06\/unnamed-300x197.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/06\/unnamed-1024x674.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/06\/unnamed-768x505.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/06\/unnamed-640x421.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/06\/unnamed.jpg 1293w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Dr. Ling Xu (left) and Professor Pengfei Lin (right)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutations in the tropomyosin receptor kinase fused (TFG) have been identified as contributing to several neurological disorders: hereditary spastic paraplegia (HSP), hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we describe a novel heterozygous TFG variant (p.R42Q) responsible for pure HSP. We have further confirmed that [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/06\/18\/novel-tfg-mutation-causes-autosomal-dominant-spastic-paraplegia-and-defects-in-autophagy\/\">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-1977","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>Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy (Contributed by Dr. Ling Xu) - 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\/2024\/06\/18\/novel-tfg-mutation-causes-autosomal-dominant-spastic-paraplegia-and-defects-in-autophagy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy (Contributed by Dr. Ling Xu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mutations in the tropomyosin receptor kinase fused (TFG) have been identified as contributing to several neurological disorders: hereditary spastic paraplegia (HSP), hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we describe a novel heterozygous TFG variant (p.R42Q) responsible for pure HSP. 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