‚ÄčProgression from RBD to synucleinopathies.

Taken from Postuma RB et al., Neurology, 2015

In our RBD genetics project, we collaborate with numerous centers from around the world, and have collected the world's largest genetic cohort of patients with RBD. These patients are being followed up by our collaborators, and their progression to overt synucleinopathies is documented. In our project on RBD and PD, we examine how genetics affect the risk for RBD and progression to PD. This project includes various sub-projects including:

  • Lysosomal genes in RBD

  • MAPT in RBD

  • GWAS of RBD and modifiers identification

  • Targeted next generation sequencing of multiple PD genes in RBD

  • Polygenic risk score and heritability of RBD

  • Digenic inheritance in RBD

  • Copy number variations in RBD

  • Whole genome sequencing of RBD

  • Genetic stratification of RBD patients towards future clinical trials

  • Nicotine receptor genes and interaction with smoking in PD and RBD

  • SMPD1 in PD

  • HIP1R in PD

  • Generating iPSCs from RBD and PD patients with genetic variants in PD-related genes

Selected publications on RBD and PD

  • RBD genetics only partially overlaps PD genetics - PubMed

  • GBA mutations are important in RBD - PubMed

  • APOE e4 allele does not affect risk for RBD - PubMed

  • PINK1 heterozygous variants may be associated with RBD - PubMed

Parkinson's disease and REM sleep behavior disorder

Parkinson's disease (PD) is the second most common neurodegenerative disorder, affecting 1-2% of the population older than 60 years. As the world's population is aging, the burden of PD is expected to dramatically increase in the next decades. PD is a progressive disease, characterized by a variety of motor and non-motor symptoms, which typically manifest after the age of 60, but can occur at a much earlier stage. One of those non motor symptoms, is REM sleep behavior disorder (RBD). Individuals with RBD, during REM sleep, lose their muscle inhibition, and enact their dreams. In average, about 10 years after the onset of RBD, these individuals may develop PD or another synucleinopathy (see page on RBD and other synucleinopathies).

    1033 Pine Avenue West

    Ludmer Pavilion, room 312

    Montreal, QC, H3A 1A1

    Lab: +1-514-398-5845

    e-mail: ziv.gan-or@mcgill.ca