{"id":4627,"date":"2020-09-01T12:20:17","date_gmt":"2020-09-01T16:20:17","guid":{"rendered":"https:\/\/ccna-ccnv.ca\/ccna_publication\/gba-variants-in-rem-sleep-behavior-disorder-a-multicenter-study-2\/"},"modified":"2024-12-03T14:57:12","modified_gmt":"2024-12-03T19:57:12","slug":"gba-variants-in-rem-sleep-behavior-disorder-a-multicenter-study-2","status":"publish","type":"ccna_publication","link":"https:\/\/ccna-ccnv.ca\/fr\/ccna_publication\/gba-variants-in-rem-sleep-behavior-disorder-a-multicenter-study-2\/","title":{"rendered":"GBA variants in REM sleep behavior disorder: a multicenter study"},"content":{"rendered":"

Abstract<\/h2>\n
\n

Objective<\/strong>\u00a0To study the role of\u00a0GBA<\/em>\u00a0variants in the risk for isolated REM sleep behavior disorder (iRBD) and conversion to overt neurodegeneration.<\/p>\n<\/div>\n

\n

Methods<\/strong>\u00a0A total of 4,147 individuals were included: 1,061 patients with iRBD and 3,086 controls.\u00a0GBA<\/em>\u00a0was fully sequenced using molecular inversion probes and Sanger sequencing. We analyzed the effects of\u00a0GBA<\/em>\u00a0variants on the risk of iRBD, age at onset (AAO), and conversion rates.<\/p>\n<\/div>\n

\n

Results<\/strong>\u00a0GBA<\/em>\u00a0variants were found in 9.5% of patients with iRBD compared to 4.1% of controls (odds ratio, 2.45; 95% confidence interval [CI], 1.87\u20133.22;\u00a0p<\/em>\u00a0= 1 \u00d7 10\u221210<\/sup>). The estimated OR for mild p.N370S variant carriers was 3.69 (95% CI, 1.90\u20137.14;\u00a0p<\/em>\u00a0= 3.5 \u00d7 10\u22125<\/sup>), while for severe variant carriers it was 17.55 (95% CI, 2.11\u2013145.9;\u00a0p<\/em>\u00a0= 0.0015). Carriers of severe\u00a0GBA<\/em>\u00a0variants had an average AAO of 52.8 years, 7\u20138 years earlier than those with mild variants or noncarriers (p<\/em>\u00a0= 0.029). Of the\u00a0GBA<\/em>\u00a0variant carriers with available data, 52.5% had converted, compared to 35.6% of noncarriers (p<\/em>\u00a0= 0.011), with a trend for faster conversion among severe\u00a0GBA<\/em>\u00a0variant carriers. However, the results on AAO and conversion were based on small numbers and should be interpreted with caution.<\/p>\n<\/div>\n

\n

Conclusions<\/strong>\u00a0GBA<\/em>\u00a0variants robustly and differentially increase the risk of iRBD. The rate of conversion to neurodegeneration is also increased and may be faster among severe\u00a0GBA<\/em>\u00a0variant carriers, although confirmation will be required in larger samples. Screening for RBD in healthy carriers of\u00a0GBA<\/em>\u00a0variants should be studied as a potential way to identify\u00a0GBA<\/em>\u00a0variant carriers who will develop a synucleinopathy in the future.<\/p>\n

(Team 1)<\/p>\n<\/div>\n","protected":false},"author":19,"featured_media":0,"template":"","meta":{"_acf_changed":false},"studies-relation":[],"class_list":["post-4627","ccna_publication","type-ccna_publication","status-publish","hentry"],"acf":[],"yoast_head":"\nGBA variants in REM sleep behavior disorder: a multicenter study - 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\/gba-variants-in-rem-sleep-behavior-disorder-a-multicenter-study-2\/\" \/>\n<meta property=\"og:locale\" content=\"fr_CA\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"GBA variants in REM sleep behavior disorder: a multicenter study - CCNA - CCNV\" \/>\n<meta property=\"og:description\" content=\"Abstract Objective\u00a0To study the role of\u00a0GBA\u00a0variants in the risk for ...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ccna-ccnv.ca\/fr\/ccna_publication\/gba-variants-in-rem-sleep-behavior-disorder-a-multicenter-study-2\/\" \/>\n<meta property=\"og:site_name\" content=\"CCNA - 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