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Related Concept Videos

REM Sleep Behavior Disorder01:15

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REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
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Dynamic Digital Biomarkers of Motor and Cognitive Function in Parkinson's Disease
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Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder.

Yuri L Sosero1,2, Eric Yu1,2, Mehrdad A Estiar1,2

  • 1Department of Human Genetics, McGill University, Montréal, QC, Canada.

Journal of Parkinson'S Disease
|October 25, 2021
PubMed
Summary
This summary is machine-generated.

Rare mutations in PSAP, a gene linked to saposin C, were found in patients with REM sleep behavior disorder (RBD). These findings suggest PSAP variants may contribute to RBD and interact with GBA mutations.

Keywords:
GBAPSAPParkinson’s diseaseREM sleep behavior disordergeneticsglucocerebrosidasesaposin C

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Area of Science:

  • Genetics
  • Neurology
  • Sleep Medicine

Background:

  • Idiopathic REM sleep behavior disorder (iRBD) is a prodromal stage of synucleinopathy.
  • PSAP encodes saposin C, a crucial co-activator for glucocerebrosidase (encoded by GBA).
  • GBA mutations are known risk factors for iRBD.

Purpose of the Study:

  • To investigate the potential role of PSAP mutations in the development of iRBD.
  • To explore possible genetic interactions between PSAP and GBA in iRBD patients.

Main Methods:

  • Whole-genome sequencing of the PSAP gene in 1,113 iRBD patients and 2,324 controls.
  • Optimized Sequence Kernel Association Test (OSKAT) was employed for statistical analysis.
  • In silico analysis was used to assess the functional impact of identified mutations.

Main Results:

  • Loss-of-function (LoF) mutations in PSAP were identified in three iRBD patients, but none in controls (p=0.018).
  • Two identified variants were stop mutations (p.Gln260Ter, p.Glu166Ter) and one was an in-frame deletion (p.332_333del), all predicted to be deleterious.
  • Two patients with PSAP LoF mutations also carried GBA variants, a co-occurrence statistically unlikely in the general population.

Conclusions:

  • PSAP variants may play a role in iRBD pathogenesis.
  • A potential genetic interaction between PSAP and GBA warrants further investigation.
  • Identified iRBD patients with PSAP LoF mutations showed prodromal synucleinopathy markers, suggesting a possible link to neurodegenerative disease progression.