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SMPD1 variants do not have a major role in REM sleep behavior disorder
Neurobiology of Aging ( IF 4.2 ) Pub Date : 2020-09-01 , DOI: 10.1016/j.neurobiolaging.2020.04.005
Uladzislau Rudakou 1 , Naomi C Futhey 2 , Lynne Krohn 1 , Jennifer A Ruskey 3 , Karl Heilbron 4 , Paul Cannon 4 , 4 , Armaghan Alam 2 , Isabelle Arnulf 5 , Michele T M Hu 6 , Jacques Y Montplaisir 7 , Jean-François Gagnon 8 , Alex Desautels 9 , Yves Dauvilliers 10 , Marco Toffoli 11 , Gian Luigi Gigli 12 , Mariarosaria Valente 13 , Birgit Högl 14 , Ambra Stefani 14 , Evi Holzknecht 14 , Karel Sonka 15 , David Kemlink 15 , Wolfang Oertel 16 , Annette Janzen 16 , Giuseppe Plazzi 17 , Elena Antelmi 17 , Michela Figorilli 18 , Monica Puligheddu 18 , Brit Mollenhauer 19 , Claudia Trenkwalder 19 , Friederike Sixel-Döring 20 , Valérie Cochen De Cock 21 , Christelle Charley Monaca 22 , Anna Heidbreder 23 , Luigi Ferini-Strambi 24 , Femke Dijkstra 25 , Mineke Viaene 25 , Beatriz Abril 26 , Bradley F Boeve 27 , Ronald B Postuma 28 , Guy A Rouleau 29 , Ziv Gan-Or 29
Affiliation  

Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson's disease and dementia with Lewy bodies. In the current study, we aimed to evaluate the role of SMPD1 variants in isolated rapid eye movement sleep behavior disorder (iRBD). SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients and 1287 controls from European descent. Our study reports no statistically significant association of SMPD1 variants and iRBD. It is hence unlikely that SMPD1 plays a major role in iRBD.

中文翻译:

SMPD1 变体在 REM 睡眠行为障碍中没有主要作用

据报道,鞘磷脂磷酸二酯酶 1 (SMPD1) 基因突变与帕金森病和路易体痴呆有关。在当前的研究中,我们旨在评估 SMPD1 变体在孤立性快速眼动睡眠行为障碍 (iRBD) 中的作用。在 959 名 iRBD 患者和 1287 名来自欧洲血统的对照中,使用靶向下一代测序对 SMPD1 及其非翻译区域进行了测序。我们的研究报告 SMPD1 变体和 iRBD 之间没有统计学上显着的关联。因此,SMPD1 不太可能在 iRBD 中发挥主要作用。
更新日期:2020-09-01
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