Table 1.
Demographics, GBA mutation status and glucocerebrosidase enzymatic activity in Parkinson’s disease cases and controls
| Parkinson’s cases (n = 517) | Controls (n = 252) | P-value | ||
|---|---|---|---|---|
| Mean age in years, (SD) | 66.0 (10.5) | 65.3 (9.6) | 0.324 | |
| Males, % (n) | 63.4 (328) | 33.3 (84) | <0.001 | |
| Subjects with at least one Ashkenazi Jewish grandparent, % (n) | 44.7 (231) | 38.5 (97) | 0.327 | |
| Subjects with family history of Parkinson’s disease in first-degree relative, % (n)a | 18.2 (92) | 4.8 (12) | <0.001 | |
| LRRK2 G2019S carriers, % (n) | 7.5 (39) | 0.8 (2) | <0.001 | |
| GBA mutation/variant status, % (n) | 2 mutations/variants | 1.4 (7)b | 0.0 (0) | <0.001 |
| 1 mutation/variant | 15.7 (81) | 6.7 (17) | ||
| 0 mutations/variants | 83.0 (429) | 93.3 (235) | ||
| Mean glucocerebrosidase enzymatic activity in µmol/l/h, (SD) | 11.14 (3.77) | 11.85 (3.40) | 0.011 | |
| Education in years, (SD) | 16.6 (2.9) | 16.7 (2.7) | 0.746 | |
| UPDRS part III, (SD) | 18.0 (10.6) | 1.0 (1.9) | <0.001 | |
| Montreal Cognitive Assessment, (SD) | 25.2 (3.7) | 27.0 (2.2) | <0.001 | |
| Mean Parkinson’s age-at-onset, (SD) | 59.2 (11.6) | |||
| Levodopa equivalent daily dose in mg, (SD) | 539 (461) | |||
aFamily history information was not available on 12 Parkinson’s disease cases and four controls.
bTwo of the Parkinson’s disease cases with two mutations/variants carried the T369M variant in addition to the N370S or 84GG mutations.