REM sleep behavior disorder (RBD) can convert to one of three synucleinopathies, Parkinson’s disease (PD), dementia with Lewy-bodies (DLB) and multiple system atrophy (MSA). While a lot of our focus is on the progression from RBD to PD, we are also highly interested in how genetic factors affect the progression from RBD to DLB and MSA. Of note, numerous clinicians and researchers suggest that RBD-PD and RBD-DLB are the same disease, since individuals with RBD and PD very often progress into dementia of the DLB type. MSA, on the other hand, is a completely different disease in which other types of cells are affected.
Genetic similarity / dissimilarity between RBD-PD and RBD-DLB.
Targeted next generation sequencing of genes suspected to be involved in MSA among RBD patients.
Effects of genetic variants from GWAS and NGS data on rate and type of progression from RBD to DLB and MSA.
Genetic correlations with cognitive phenotypes
Pattern of association of SNCA markers in PD vs. RBD, RBD showing similar pattern to that seen in DLB (Krohn et al. Annals of Neurology 2020)