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.
SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder / Rudakou, U.; Futhey, N. C.; Krohn, L.; Ruskey, J. A.; Heilbron, K.; Cannon, P.; Alam, A.; Arnulf, I.; M. T. M., Hu; Montplaisir, J. Y.; Gagnon, J. -F.; Desautels, A.; Dauvilliers, Y.; Toffoli, M.; Gigli, G. L.; Valente, M.; Hogl, B.; Stefani, A.; Holzknecht, E.; Sonka, K.; Kemlink, D.; Oertel, W.; Janzen, A.; Plazzi, G.; Antelmi, E.; Figorilli, M.; Puligheddu, M.; Mollenhauer, B.; Trenkwalder, C.; Sixel-Doring, F.; De Cock, V. C.; Monaca, C. C.; Heidbreder, A.; Ferini-Strambi, L.; Dijkstra, F.; Viaene, M.; Abril, B.; Boeve, B. F.; Postuma, R. B.; Rouleau, G. A.; Gan-Or, Z.. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 93:(2020), pp. 142-142.e7. [10.1016/j.neurobiolaging.2020.04.005]
SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder
Ferini-Strambi L.;
2020-01-01
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
