{"id":447,"date":"2024-01-16T17:00:14","date_gmt":"2024-01-16T17:00:14","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=b04e02391f42b9c7ce01e70557f5fc7d"},"modified":"2024-01-16T17:00:14","modified_gmt":"2024-01-16T17:00:14","slug":"grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2024\/01\/16\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\/","title":{"rendered":"GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort"},"content":{"rendered":"<sec><st>Background<\/st><p><\/p><\/sec><sec><st>Methods<\/st><p>The <I>GRN<\/I> mutations, especially of the loss of function type, are causative of frontotemporal dementia (FTD). However, several <I>GRN<\/I> variants can be found in other neurodegenerative diseases, such as Alzheimer&rsquo;s disease (AD) and Parkinson&rsquo;s disease. So far, there have been over 300 <I>GRN<\/I> mutations reported globally. However, the genetic spectrum and phenotypic characteristics have not been fully elucidated in Chinese population.<\/p><p>The participants were from the dementia cohort of Peking Union Medical College Hospital (n=1945). They received history inquiry, cognitive evaluation, brain imaging and exome sequencing. The dementia subjects carrying the rare variants of the <I>GRN<\/I> were included in this study. Those with the pathogenic or likely pathogenic variants of other dementia-related genes were excluded.<\/p><\/sec><sec><st>Results<\/st><p>14 subjects carried the rare variants of <I>GRN<\/I>. They were clinically diagnosed with behavioural variant of FTD (n=2), non-fluent\/agrammatic variant primary progressive aphasia (PPA, n=3), semantic variant PPA (n=1), AD (n=6) and mixed dementia (n=2). 13 rare variants of <I>GRN<\/I> were found, including 6 novel variants (W49X, S226G, M152I, A91E, G79E and A303S). The most prevalent symptom was amnesia (85.7%, 12\/14), followed by psychiatric and behavioural disorder (78.6%, 11\/14). In terms of lobar atrophy, temporal atrophy\/hypometabolism was the most common (85.7%, 12\/14), followed by parietal atrophy\/hypometabolism (78.6%, 11\/14).<\/p><\/sec><sec><st>Conclusion<\/st><p>The novel <I>GRN<\/I> variants identified in this study contribute to enrich the <I>GRN<\/I> mutation repertoire. There is phenotypic similarity and diversity among Chinese patients with the <I>GRN<\/I> mutations.<\/p><\/sec>","protected":false},"excerpt":{"rendered":"<p>BackgroundMethodsThe GRN mutations, especially of the loss of function type, are causative of frontotemporal dementia (FTD). However, several GRN variants can be found in other neurodegenerative diseases, such as Alzheimer&rsquo;s disease (AD) and Park&#8230;<\/p>\n","protected":false},"author":98,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,8],"tags":[],"class_list":["post-447","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg-first"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/447","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/98"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=447"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/447\/revisions"}],"predecessor-version":[{"id":448,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/447\/revisions\/448"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=447"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=447"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=447"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}