SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder

NEUROBIOLOGY OF AGING

卷:93

Article

Rudakou, Uladzislau^1,2  Futhey, Naomi C.²  Krohn, Lynne^1,2  Ruskey, Jennifer A.^2,3  Heilbron, Karl⁴  Cannon, Paul⁴  Alam, Armaghan²  Arnulf, Isabelle⁵  Hu, Michele T. M.^6,7  Montplaisir, Jacques Y.^8,9  Gagnon, Jean-Francois^8,10  Desautels, Alex^8,11  Dauvilliers, Yves¹²  Toffoli, Marco^13,14  Gigli, Gian Luigi^15,16  Valente, Mariarosaria^13,15  Hoegl, Birgit¹⁷  Stefani, Ambra¹⁷  Holzknecht, Evi¹⁷  Sonka, Karel^18,19,20  Kemlink, David^18,19,20  Oertel, Wolfang²¹  Janzen, Annette²¹  Plazzi, Giuseppe^22,23  Antelmi, Elena^22,23  Figorilli, Michela²⁴  Puligheddu, Monica²⁴  Mollenhauer, Brit^25,26  Trenkwalder, Claudia^25,26  Sixel-Doeringe, Friederike^21,26  De Cock, Valerie Cochen^27,28  Monaca, Christelle Charley^29,30  Heidbreder, Anna³¹  Ferini-Strambi, Luigi³²  Dijkstra, Femke^33,34  Viaene, Mineke^33,34  Abril, Beatriz³⁵  Boeve, Bradley F.³⁶  Postuma, Ronald B.^2,3,8  Rouleau, Guy A.^1,2,3  Gan-Or, Ziv^1,2,3 

[1] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[2] McGill Univ, Montreal Neurol Inst, 1033 Pine Ave West,Ludmer Pavil,Room 312, Montreal, PQ H3A 1A1, Canada

[3] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada

[4] 23andMe Inc, Sunnyvale, CA USA

[5] Sorbonne Univ, Pitie Salpetriere Hosp, Inst Cerveau & Moelle Epiniere, Sleep Disorders Unit,Ctr Rech, Paris, France

[6] Univ Oxford, Oxford Parkinsons Dis Ctr OPDC, Oxford, England

[7] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England

[8] Hop Sacre Coeur Montreal, Ctr Etud Avancees Med Sommeil, Montreal, PQ, Canada

[9] Univ Montreal, Dept Psychiat, Montreal, PQ, Canada

[10] Univ Quebec, Dept Psychol, Montreal, PQ, Canada

[11] Univ Montreal, Dept Neurosci, Montreal, PQ, Canada

[12] Univ Montpellier, Natl Reference Ctr Narcolepsy, Gui de Chauliac Hosp, CHU Montpellier,Dept Neurol,Sleep Unit,INSERM U10, Montpellier, France

[13] Univ Udine, Dept Med DAME, Udine, Italy

[14] UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England

[15] Univ Hosp Udine, Dept Neurosci, Clin Neurol Unit, Udine, Italy

[16] Univ Udine, DMIF, Udine, Italy

[17] Med Univ Innsbruck, Dept Neurol, Sleep Disorders Clin, Innsbruck, Austria

[18] Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

[19] Charles Univ Prague, Ctr Clin Neurosci, Fac Med 1, Prague, Czech Republic

[20] Gen Univ Hosp, Prague, Czech Republic

[21] Philipps Univ Marburg, Dept Neurol, Marburg, Germany

[22] Univ Bologna, Alma Mater Studiorum, Dept Biomed & Neuromotor Sci DIBINEM, Bologna, Italy

[23] Inst Neurol Sci Bologna, IRCCS, Bologna, Italy

[24] Univ Cagliari, Sleep Disorder Res Ctr, Dept Med Sci & Publ Hlth, Cagliari, Italy

[25] Paracelsus Elena Klin, Kassel, Germany

[26] Univ Med Ctr Goettingen, Dept Neurol, Gottingen, Germany

[27] Beau Soleil Clin, Sleep & Neurol Unit, Montpellier, France

[28] Univ Montpellier, EuroMov, Montpellier, France

[29] Univ Lille North France, Dept Clin Neurophysiol, Lille, France

[30] CHU Lille, Sleep Ctr, Lille, France

[31] Univ Munster, Dept Sleep Med & Neuromusc Disorders, Munster, Germany

[32] Univ Vita Salute San Raffaele, Dept Neurol Sci, Milan, Italy

[33] St Dimpna Reg Hosp, Lab Sleep Disorders, Geel, Belgium

[34] St Dimpna Reg Hosp, Dept Neurol, Geel, Belgium

[35] Univ Hosp Nimes, Caremeau Hosp, Sleep Disorder Unit, Nimes, France

[36] Mayo Clin, Dept Neurol, Rochester, MN USA

关键词: REM sleep behavior disorder;    Sphingomyelin phosphodiesterase 1;    Association study;   

DOI  :  10.1016/j.neurobiolaging.2020.04.005

来源: Elsevier

【 摘 要 】

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. (C) 2020 Elsevier Inc. All rights reserved.

【 授权许可】

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