Table 1.
GBA variants identified in RBD patients and controls
| Variation | RBD (n = 265) | Controls (n = 189) | P value |
|---|---|---|---|
| c.-15A>G1 | 1 (0.4%) | 0 | NA |
| p.K-27R1 | 1 (0.4%) | 0 | NA |
| p.R131L | 1 (0.4%) | 0 | NA |
| p.H255Q | 1 (0.4%) | 0 | NA |
| p.W291X | 1 (0.4%) | 0 | NA |
| p.E326K | 14 (5.3%) | 3 (1.6%) | 0.046 |
| p.T369M1 | 7 (2.6%) | 5 (2.6%) | NS |
| p.N370S | 5 (1.9%) | 2 (1.1%) | NS |
| p.W378G | 1 (0.4%) | 0 | NA |
| p.V437L | 1 (0.4%) | 0 | NA |
| p.L444P | 1 (0.4%) | 1 (0.5%) | NS |
| p.V460L1 | 1 (0.4%) | 0 | NA |
| Compound heterozygous | |||
| p.W179X/P.M361I | 1 (0.4%) | 0 | NA |
| p.L444P/p.E326K | 1 (0.4%) | 0 | NA |
| Total | 37 (14.0%) | 11 (5.8%) | 0.0052 |
| Total pathogenic | 27 (10.2%) | 6 (3.2%) | 0.0045 |
RBD, rapid eye movement sleep behavior disorder; PD, Parkinson's disease; LBD, Lewy Body Dementia.
1
These variants are with unknown clinical significance, whereas the other variants are causing Gaucher's disease or associated with PD/LBD, or represent a null mutation.