TY - JOUR
T1 - SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder
AU - The 23andMe Research Team
AU - Rudakou, Uladzislau
AU - Futhey, Naomi C.
AU - Krohn, Lynne
AU - Ruskey, Jennifer A.
AU - Heilbron, Karl
AU - Cannon, Paul
AU - Alam, Armaghan
AU - Arnulf, Isabelle
AU - Hu, Michele T.M.
AU - Montplaisir, Jacques Y.
AU - Gagnon, Jean François
AU - Desautels, Alex
AU - Dauvilliers, Yves
AU - Toffoli, Marco
AU - Gigli, Gian Luigi
AU - Valente, Mariarosaria
AU - Högl, Birgit
AU - Stefani, Ambra
AU - Holzknecht, Evi
AU - Sonka, Karel
AU - Kemlink, David
AU - Oertel, Wolfang
AU - Janzen, Annette
AU - Plazzi, Giuseppe
AU - Antelmi, Elena
AU - Figorilli, Michela
AU - Puligheddu, Monica
AU - Mollenhauer, Brit
AU - Trenkwalder, Claudia
AU - Sixel-Döring, Friederike
AU - De Cock, Valérie Cochen
AU - Monaca, Christelle Charley
AU - Heidbreder, Anna
AU - Ferini-Strambi, Luigi
AU - Dijkstra, Femke
AU - Viaene, Mineke
AU - Abril, Beatriz
AU - Boeve, Bradley F.
AU - Postuma, Ronald B.
AU - Rouleau, Guy A.
AU - Gan-Or, Ziv
N1 - Publisher Copyright:
© 2020 Elsevier Inc.
PY - 2020/9
Y1 - 2020/9
N2 - 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.
AB - 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.
KW - Association study
KW - REM sleep behavior disorder
KW - Sphingomyelin phosphodiesterase 1
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UR - http://www.scopus.com/inward/citedby.url?scp=85084384201&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2020.04.005
DO - 10.1016/j.neurobiolaging.2020.04.005
M3 - Article
AN - SCOPUS:85084384201
SN - 0197-4580
VL - 93
SP - 142.e5-142.e7
JO - Neurobiology of aging
JF - Neurobiology of aging
ER -