Data di Pubblicazione:
2020
Citazione:
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]
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.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Association study; REM sleep behavior disorder; Sphingomyelin phosphodiesterase 1; Female; High-Throughput Nucleotide Sequencing; Humans; Male; Sleep Wake Disorders; Sleep, REM; Sphingomyelin Phosphodiesterase; Genetic Association Studies; Genetic Variation; Negative Results
Elenco autori:
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.
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