Demographic and clinical features of the Parkinson’s disease (PD) cohort classified by GBA mutation carrier status
| Variable | GD-causing variants (group 1) n=44 | E326K and T369M carriers (group 2) n=98 | Non-carriers (group 3) n=1584 | P value* Group 1 vs 3 | P value* Group 2 vs 3 | P value* Groups 1 and 2 vs 3 |
| Age (years) | 62.9 (12.3) | 66.8 (8.7) | 67.6 (9.2) | <0.001† | 0.50† | 0.018† |
| Age at diagnosis (years) | 61.4 (12.3) | 65.6 (8.7) | 66.2 (9.2) | <0.001† | 0.50† | 0.018† |
| Duration from diagnosis (years) | 1.5 (1.1) | 1.2 (0.9) | 1.3 (0.9) | 0.15‡ | 0.075‡ | 0.49‡ |
| Gender, male (%) | 28 (63.6%) | 65 (66.3%) | 1036 (65.4%) | 0.93§ | 0.83§ | 0.90§ |
| HY stage | ||||||
| 0–1.5 (%) | 17 (38.6%) | 48 (49.0%) | 774 (49.3%) | 0.015 | 0.81 | 0.14 |
| 2 or 2.5 (%) | 21 (47.7%) | 47 (48.0%) | 704 (44.9%) | |||
| 3+ (%) | 6 (13.6%) | 3 (3.1%) | 91 (5.8%) | |||
| UPDRS 3 | 24.2 (13.0) | 21.8 (11.5) | 22.6 (12.2) | 0.26¶ | 0.72¶ | 0.76¶ |
| LEDD (mg/day) | 370 (219) | 303 (183) | 292 (206) | 0.028 | 0.17 | 0.020 |
| Education≤12 years (%) | 14 (34.1%) | 29 (31.2%) | 483 (32.5%) | 0.47 | 0.91 | 0.78 |
| Motor subtype | ||||||
| TD | 12 (30.0%) | 38 (41.3%) | 688 (47.7%) | |||
| PIGD | 20 (50.0%) | 41 (44.6%) | 566 (39.3%) | 0.061 | 0.14 | 0.027 |
| Indeterminate | 8 (20.0%) | 13 (14.1%) | 187 (13.0%) | 0.057 | 0.44 | 0.10 |
| Anxiety (%) | 14 (33.3%) | 24 (25.3%) | 355 (23.5%) | 0.35 | 0.76 | 0.44 |
| Depression (%) | 10 (24.4%) | 27 (28.1%) | 338 (22.3%) | 0.98 | 0.20 | 0.28 |
| QOL score | 6.2 (4.9) | 6.0 (5.0) | 5.7 (4.7) | 0.91 | 0.42 | 0.46 |
| Family history of PD | ||||||
| First degree (%) | 5 (11.4%) | 8 (8.2%) | 194 (12.3%) | 0.82 | 0.20 | 0.24 |
| Second degree (%) | 6 (13.6%) | 4 (4.1%) | 155 (9.9%) | 0.55 | 0.063 | 0.23 |
| Any (%) | 9 (20.5%) | 12 (12.2%) | 319 (20.3%) | 0.87 | 0.048 | 0.087 |
| Ethnicity | ||||||
| White | 44 (100%) | 98 (100%) | 1531 (98.0%) | NA | NA | NA |
| Asian or Asian British | – | – | 15 (1.0%) | – | – | – |
| Black or black British | – | – | 12 (0.8%) | – | – | – |
| Mixed | – | – | 3 (0.2%) | – | – | – |
| Others | – | – | 2 (0.1%) | – | – | – |
| RBD symptoms (%) | 17 (43.6%) | 46 (49.5%) | 638 (43.1%) | 0.92 | 0.20 | 0.31 |
| Olfactory loss | 33 (86.8%) | 69 (80.2%) | 968 (71.0%) | 0.047 | 0.062 | 0.009 |
Data are shown as mean and SD unless expressed otherwise.
*Adjusted for age, gender and disease duration (except where otherwise noted).
†Adjusted for gender and disease duration.
‡Adjusted for gender and age.
§Adjsuted for age and disease duration.
¶Adjusted for age, gender, disease duration and LEDD.
GD, Gaucher’s disease; HY, Hoehn and Yahr stage; LEDD, levodopa-equivalent daily dose; NA, not available; PIGD, postural instability gait difficulty; QOL, quality of life based on PDQ8 scale; RBD, rapid eye movement sleep behaviour disorder; TD, tremor dominant; UPDRS 3, Movement Disorder Society Unified Parkinson’s Disease Rating Scale part 3.