{"id":4062,"date":"2016-11-07T14:10:53","date_gmt":"2016-11-07T19:10:53","guid":{"rendered":"https:\/\/ccna-ccnv.ca\/ccna_publication\/c9orf72-atxn2-repeat-expansions-coexist-family-ataxia-dementia-parkinsonism-2\/"},"modified":"2024-12-03T12:18:43","modified_gmt":"2024-12-03T17:18:43","slug":"c9orf72-atxn2-repeat-expansions-coexist-family-ataxia-dementia-parkinsonism-2","status":"publish","type":"ccna_publication","link":"https:\/\/ccna-ccnv.ca\/fr\/ccna_publication\/c9orf72-atxn2-repeat-expansions-coexist-family-ataxia-dementia-parkinsonism-2\/","title":{"rendered":"C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism."},"content":{"rendered":"<div class=\"grid\">\n<div class=\"col twelve_col nomargin shadow\">\n<form id=\"EntrezForm\" action=\"\/pubmed\" enctype=\"application\/x-www-form-urlencoded\" method=\"post\" name=\"EntrezForm\">\n<div id=\"maincontent\" class=\"col nine_col\">\n<div class=\"content\">\n<div class=\"rprt_all\">\n<div class=\"rprt abstract\">\n<div class=\"abstr\">\n<p>R\u00c9SUM\u00c9<\/p>\n<div>\n<p>BACKGROUND: Intermediate interrupted ataxin 2 (ATXN2) alleles (27-33 CAG-repeats) increase the risk for amyotrophic lateral sclerosis and are reported as modifiers in chromosome 9 open reading frame 72 (C9orf72) carriers, rendering susceptibility to amyotrophic lateral sclerosis rather than frontotemporal lobar degeneration. The clinical presentation of C9orf72 patients with pathogenic ATXN2 alleles (\u226535 CAG-repeats) is unknown.<\/p>\n<p>METHODS: Blood samples were collected from a family affected by ataxia, dementia, and parkinsonism, but not amyotrophic lateral sclerosis. Mutation analyses of the proband included C9orf72 and 14 ataxia genes, followed by segregation analyses in family members.<\/p>\n<p>RESULTS: Both affected siblings carry an uninterrupted 37-repeat expansion in ATXN2 and a methylated G<sub>4<\/sub> C<sub>2<\/sub> -repeat allele in C9orf72 that is typical of large pathogenic expansions.<\/p>\n<p>CONCLUSIONS: The CAG-expansion in ATXN2 likely caused the ataxia, whereas the dementia may be linked to both C9orf72 and ATXN2 repeat expansions. The pathological uninterrupted ATXN2 repeat may not have the same modifying effect as intermediate interrupted alleles. \u00a9 2016 International Parkinson and Movement Disorder Society.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/form>\n<\/div>\n<\/div>\n","protected":false},"author":19,"featured_media":0,"template":"","meta":{"_acf_changed":false},"studies-relation":[],"class_list":["post-4062","ccna_publication","type-ccna_publication","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism. - CCNA - CCNV<\/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:\/\/ccna-ccnv.ca\/fr\/ccna_publication\/c9orf72-atxn2-repeat-expansions-coexist-family-ataxia-dementia-parkinsonism-2\/\" \/>\n<meta property=\"og:locale\" content=\"fr_CA\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism. - 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