{"id":1861,"date":"2020-08-26T09:35:43","date_gmt":"2020-08-26T09:35:43","guid":{"rendered":"https:\/\/clinlabint.3wstaging.nl\/new-gene-identified-for-dominant-congenital-spinal-muscular-atrophy-and-hereditary-spastic-paraparesis\/"},"modified":"2021-01-08T11:12:55","modified_gmt":"2021-01-08T11:12:55","slug":"new-gene-identified-for-dominant-congenital-spinal-muscular-atrophy-and-hereditary-spastic-paraparesis","status":"publish","type":"post","link":"https:\/\/clinlabint.com\/new-gene-identified-for-dominant-congenital-spinal-muscular-atrophy-and-hereditary-spastic-paraparesis\/","title":{"rendered":"New gene identified for Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraparesis"},"content":{"rendered":"<p>Researchers at the UCL Institute of Neurology together with international collaborators have identified a new gene, BICD2, which causes both dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraparesis. The team was led by Professor Mary Reilly.<br \/>\nDominant Congenital Spinal Muscular Atrophy is a disorder of developing anterior horn cells and is characterised by lower limb predominance whereas Hereditary Spastic Paraparesis develops in childhood or adult life and is also a lower limb predominant disorder but of the corticospinal motor neurons.<br \/>\nThe importance of this gene for motor nerves is underlined by the simultaneous publication of the same gene causing dominant Congenital Spinal Muscular Atrophy by two other groups.<br \/>\nThe identification of the gene by exome sequencing and the subsequent functional work to study the pathogenesis of the disorder formed a major part of the PhD of Dr. Alex Rossor, a PhD student in the MRC Centre for Neuromuscular Diseases in the Institute of Neurology.\n<link http:\/\/www.ucl.ac.uk\/ion\/articles\/news\/20130516 - external-link-new-window>UCL Institute of Neurology<\/link>\n","protected":false},"excerpt":{"rendered":"<p>Researchers at the UCL Institute of Neurology together with international collaborators have identified a new gene, BICD2, which causes both dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraparesis. The team was led by Professor Mary Reilly. Dominant Congenital Spinal Muscular Atrophy is a disorder of developing anterior horn cells and is characterised by lower [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"class_list":["post-1861","post","type-post","status-publish","format-standard","hentry","category-e-news"],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1861"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1861"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1861\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1861"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1861"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1861"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}