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SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder
- Source :
- Neurobiology of Aging, Neurobiology of Aging, 2020, 93, pp.142.e5-142.e7. ⟨10.1016/j.neurobiolaging.2020.04.005⟩
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
Abstract
- International audience; 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.
- Subjects :
- Male
0301 basic medicine
Aging
REM sleep behavior disorder
Disease
Bioinformatics
European descent
Behavior disorder
0302 clinical medicine
Medicine
MESH: Genetic Variation
MESH: High-Throughput Nucleotide Sequencing
MESH: Genetic Association Studies
education.field_of_study
General Neuroscience
sphingomyelin phosphodiesterase 1
High-Throughput Nucleotide Sequencing
MESH: Negative Results
MESH: Sleep Wake Disorders
Association study
Sphingomyelin Phosphodiesterase
Female
Sphingomyelin phosphodiesterase 1
Sleep Wake Disorders
Rapid eye movement sleep
Sleep, REM
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
association study
03 medical and health sciences
Humans
education
Genetic Association Studies
MESH: Humans
business.industry
Dementia with Lewy bodies
[SCCO.NEUR]Cognitive science/Neuroscience
[SCCO.NEUR] Cognitive science/Neuroscience
Genetic Variation
medicine.disease
MESH: Sleep, REM
MESH: Male
030104 developmental biology
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
MESH: Sphingomyelin Phosphodiesterase
Neurology (clinical)
Geriatrics and Gerontology
business
MESH: Female
Negative Results
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- ISSN :
- 01974580
- Volume :
- 93
- Database :
- OpenAIRE
- Journal :
- Neurobiology of Aging
- Accession number :
- edsair.doi.dedup.....497fa60de2d26c431051e9e9957327f8
- Full Text :
- https://doi.org/10.1016/j.neurobiolaging.2020.04.005