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.
Keywords: Association study; REM sleep behavior disorder; Sphingomyelin phosphodiesterase 1.
Copyright © 2020 Elsevier Inc. All rights reserved.
Electroencephalogram slowing predicts neurodegeneration in rapid eye movement sleep behavior disorder.Neurobiol Aging. 2016 Jan;37:74-81. doi: 10.1016/j.neurobiolaging.2015.10.007. Epub 2015 Oct 23. Neurobiol Aging. 2016. PMID: 26545633
Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.Parkinsonism Relat Disord. 2018 May;50:94-98. doi: 10.1016/j.parkreldis.2018.02.034. Epub 2018 Feb 21. Parkinsonism Relat Disord. 2018. PMID: 29487000
Delayed emergence of a parkinsonian disorder or dementia in 81% of older men initially diagnosed with idiopathic rapid eye movement sleep behavior disorder: a 16-year update on a previously reported series.Sleep Med. 2013 Aug;14(8):744-8. doi: 10.1016/j.sleep.2012.10.009. Epub 2013 Jan 22. Sleep Med. 2013. PMID: 23347909
Rapid eye movement sleep behavior disorder: devising controlled active treatment studies for symptomatic and neuroprotective therapy--a consensus statement from the International Rapid Eye Movement Sleep Behavior Disorder Study Group.Sleep Med. 2013 Aug;14(8):795-806. doi: 10.1016/j.sleep.2013.02.016. Epub 2013 Jul 22. Sleep Med. 2013. PMID: 23886593
Neuroimaging of Rapid Eye Movement Sleep Behavior Disorder.Int Rev Neurobiol. 2019;144:185-210. doi: 10.1016/bs.irn.2018.10.006. Epub 2018 Nov 8. Int Rev Neurobiol. 2019. PMID: 30638454 Review.