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

Neurobiol Aging. 2020 Sep:93:142.e5-142.e7. doi: 10.1016/j.neurobiolaging.2020.04.005. Epub 2020 Apr 18.


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.

MeSH terms

  • Female
  • Genetic Association Studies*
  • Genetic Variation*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Negative Results*
  • Sleep Wake Disorders / genetics*
  • Sleep Wake Disorders / physiopathology*
  • Sleep, REM / genetics*
  • Sphingomyelin Phosphodiesterase / genetics*
  • Sphingomyelin Phosphodiesterase / physiology


  • SMPD1 protein, human
  • Sphingomyelin Phosphodiesterase