{"id":4863,"date":"2021-08-05T20:52:07","date_gmt":"2021-08-06T00:52:07","guid":{"rendered":"https:\/\/ccna-ccnv.ca\/ccna_publication\/clinical-and-genetic-analysis-of-costa-rican-patients-with-parkinsons-disease-2\/"},"modified":"2024-12-03T14:57:53","modified_gmt":"2024-12-03T19:57:53","slug":"clinical-and-genetic-analysis-of-costa-rican-patients-with-parkinsons-disease-2","status":"publish","type":"ccna_publication","link":"https:\/\/ccna-ccnv.ca\/fr\/ccna_publication\/clinical-and-genetic-analysis-of-costa-rican-patients-with-parkinsons-disease-2\/","title":{"rendered":"Clinical and genetic analysis of Costa Rican patients with Parkinson&rsquo;s disease"},"content":{"rendered":"<p class=\"mb15\"><strong>Background:<\/strong>\u00a0Most research in genomics of Parkinson&rsquo;s disease (PD) has been done in subjects of European ancestry, leading to sampling bias and leaving Latin American populations underrepresented. We sought to clinically characterize PD patients of Costa Rican origin and to sequence familial PD and atypical parkinsonism-associated genes in cases and controls.<\/p>\n<p class=\"mb15\"><strong>Methods:<\/strong>\u00a0We enrolled 118 PD patients with 97 unrelated controls. Collected information included demographics, exposure to risk and protective factors, and motor and cognitive assessments. We sequenced coding and untranslated regions in familial PD and atypical parkinsonism-associated genes including\u00a0<i>GBA, SNCA, VPS35, LRRK2, GCH1, PRKN, PINK1, DJ-1, VPS13C<\/i>, and\u00a0<i>ATP13A2<\/i>.<\/p>\n<p class=\"mb15\"><strong>Results:<\/strong>\u00a0Mean age of PD probands was 62.12 \u00b1 13.51 years; 57.6% were male. The frequency of risk and protective factors averaged ~45%. Physical activity significantly correlated with better motor performance despite years of disease. Increased years of education were significantly associated with better cognitive function, whereas hallucinations, falls, mood disorders, and coffee consumption correlated with worse cognitive performance. We did not identify an association between tested genes and PD or any damaging homozygous or compound heterozygous variants. Rare variants in\u00a0<i>LRRK2<\/i>\u00a0were nominally associated with PD; six were located between amino acids p.1620 and 1623 in the C-terminal-of-ROC (COR) domain of Lrrk2. Non-synonymous\u00a0<i>GBA<\/i>\u00a0variants (p.T369M, p.N370S, and p.L444P) were identified in three healthy individuals. One PD patient carried a pathogenic\u00a0<i>GCH1<\/i>\u00a0variant, p.K224R.<\/p>\n<p class=\"mb0\"><strong>Discussion:<\/strong>\u00a0This is the first study that describes sociodemographics, risk factors, clinical presentation, and genetics of Costa Rican patients with PD, adding information to genomics research in a Latino population.<\/p>\n","protected":false},"author":19,"featured_media":0,"template":"","meta":{"_acf_changed":false},"studies-relation":[],"class_list":["post-4863","ccna_publication","type-ccna_publication","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Clinical and genetic analysis of Costa Rican patients with Parkinson&#039;s disease - 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\/clinical-and-genetic-analysis-of-costa-rican-patients-with-parkinsons-disease-2\/\" \/>\n<meta property=\"og:locale\" content=\"fr_CA\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical and genetic analysis of Costa Rican patients with Parkinson&#039;s disease - 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