Table 3.
Glucocerebrosidase enzymatic activity by GBA and LRRK2 G2019S mutation statusa
| Mutation status | n | Mean glucocerebrosidase enzymatic activity in µmol/l/h (SD) | Range | P-value (compared to non-carriers) |
|---|---|---|---|---|
| GBA homozygotes and compound heterozygotes | 7 | 0.85 (1.11) | 0.005–3.00 | <0.001 |
| N370S | 40 | 6.42 (1.72) | 3.23–11.72 | <0.001 |
| L444P | 8 | 7.66 (2.28) | 4.88–11.26 | <0.001 |
| 84GG | 4 | 7.13 (1.29) | 5.46–8.47 | 0.003 |
| R496H | 4 | 8.10 (2.52) | 4.83–10.92 | 0.018 |
| IVS2+1 | 2 | 7.97 (1.00) | 7.26–8.67 | 0.082 |
| E326K | 16 | 9.81 (2.87) | 5.2–16.37 | 0.009 |
| T369M | 9 | 7.64 (1.71) | 6.12–11.10 | <0.001 |
| LRRK2 G2019Sb | 36 | 13.69 (4.84) | 8.70–30.30 | 0.002 |
| Non-GBA and non-LRRK2 carriers | 628 | 11.93 (3.21) | 4.17–25.95 |
aIncluding both Parkinson’s disease and control participants.
bFour LRRK2 G2019S carriers that carried the N370S mutation and one that carried the R44C variant were removed from the analysis. Their glucocerebrosidase enzymatic activity was similar to other GBA mutation carriers (mean 7.3 ± 2.7 µmol/l/h).