{"id":945,"date":"2016-11-03T18:53:59","date_gmt":"2016-11-03T18:53:59","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=945"},"modified":"2016-11-03T18:53:59","modified_gmt":"2016-11-03T18:53:59","slug":"the-cerebellum-and-embodied-semantics-evidence-from-a-case-of-genetic-ataxia-due-to-stub1-mutations","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/11\/03\/the-cerebellum-and-embodied-semantics-evidence-from-a-case-of-genetic-ataxia-due-to-stub1-mutations\/","title":{"rendered":"The cerebellum and embodied semantics: Evidence from a case of genetic ataxia due to STUB1 mutations"},"content":{"rendered":"<p>Damage to movement-related brain networks distinctively impairs processing of action verbs (words denoting bodily motion). Can genetically-based deterioration of relevant regions involve similar deficits? To address this question, we assessed lexical processing in a unique patient with cerebellar ataxia due to mutations in the <em>STUB1<\/em> gene. By combining structural and functional MRI with genetic and behavioral analysis, we found that such genetic abnormalities are related to selective action-verb impairments, further showing the distinct role of the cerebellum and its connections to semantic- and motor-related cortical regions in processing those words. Our study opens new windows into the role of cerebellar structures and their genetic underpinnings in high-order domains. (By Dr. Agust\u00edn Ib\u00e1\u00f1ez, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/03\/jmedgenet-2016-104148\">http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/03\/jmedgenet-2016-104148<\/a> )<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/11\/Fig-1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-946\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/11\/Fig-1-300x196.jpg\" alt=\"fig-1\" width=\"300\" height=\"196\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/11\/Fig-1-300x196.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/11\/Fig-1-768x501.jpg 768w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/11\/Fig-1-1024x668.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Behavioral and imaging results of the patient relative to controls. (A) Behavioral performance.\u00a0 Lexical decision results indicate a selective deficit for action verbs. AcV: action verbs (p = .03); AbV:\u00a0 abstract verbs (p = .18); MaN manipulable nouns (p = .23); AbN: abstract nouns (p = .26). (B) Atrophy\u00a0 pattern. Voxel-based morphometry results revealed a global atrophy pattern markedly involving the left and\u00a0 right cerebella, in addition to insular, frontal, and temporal regions. (C) Functional connectivity alterations.\u00a0 Functional connectivity results revealed altered connectivity between peak atrophy site in the cerebellum (x\u00a0 = -17, y = -60, z = -20) and both temporo-parietal and frontal regions. (D) Gene-atrophy overlap. Overlap\u00a0 between atrophied areas and sites of expression of the STUB1 gene. Overlap was marked in multiple\u00a0 cerebellar locations, and also in the fusiform and superior temporal gyri.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Damage to movement-related brain networks distinctively impairs processing of action verbs (words denoting bodily motion). Can genetically-based deterioration of relevant regions involve similar deficits? To address this question, we assessed lexical processing in a unique patient with cerebellar ataxia due to mutations in the STUB1 gene. By combining structural and functional MRI with genetic and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/11\/03\/the-cerebellum-and-embodied-semantics-evidence-from-a-case-of-genetic-ataxia-due-to-stub1-mutations\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-945","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/945","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=945"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/945\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=945"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=945"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=945"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}