Non-carriers | All GBA1 variants | P value | GBA1 non-pathogenic variant carriers | Pathogenic GBA1 mutation carriers | P value | |
Number | 214 | 48 | – | 31 | 17 | – |
Sex M:F | 127:87 | 32:16 | 0.348 | 22:9 | 10:7 | 0.459 |
Age at diagnosis | 69.2 (9.8) | 68.3 (8.9) | 0.569 | 68.7 (10.1) | 67.5 (6.3) | 0.785 |
Years of follow-up | 6.9 (4.2) | 6.1 (3.4) | 0.255 | 6.8 (3.6) | 6.2 (2.8) | 0.791 |
Years in education | 11.9 (3.1) | 11.3 (2.5) | 0.253 | 11.3 (2.5) | 11.5 (2.7) | 0.510 |
Total UPDRS at baseline | 51.8 (19.6) | 54.2 (16.8) | 0.431 | 56.2 (18.3) | 50.0 (15.2) | 0.452 |
Motor UPDRS at baseline | 31.6 (12.5) | 35.1 (12.0) | 0.072 | 35.7 (12.1) | 35.1 (13.2) | 0.168 |
Hoehn and Yahr at baseline | 1.7 (0.7) | 2.0 (0.8) | 0.02 | 2.0 (0.74) | 2.0 (0.8) | 0.067 |
PIGD score at baseline | 0.75 (0.55) | 0.85 (0.47) | 0.225 | 0.86 (0.52) | 0.79 (0.34) | 0.563 |
Tremor score at baseline | 0.59 0.41) | 0.61 (0.41) | 0.744 | 0.75 (0.42) | 0.51 (0.35) | 0.119 |
Baseline levodopa equivalent dose | 185.9 mg (238.7) | 204.4 mg (241.1) | 0.594 | 166.1 mg (214.1) | 274.1 mg (277.0) | 0.290 |
MMSE at baseline | 28.5 (1.4) | 28.2 (1.9) | 0.274 | 27.9 (2.1) | 28.6 (1.4) | 0.150 |
BDI at baseline | 7.3 (5.3) | 6.8 (5.0) | 0.629 | 7.8 (5.6) | 4.9 (2.9) | 0.180 |
NART at baseline | 116.1 (61.9) | 111.3 (11.3) | 0.609 | 109.7 (10.7) | 113.2 (12.0) | 0.873 |
PDQ-39 at baseline | 24.7 (19.8) | 26.4 (19.8) | 0.602 | 32.5 (22.3) | 17.5 (9.2) | 0.057 |
SDs shown in brackets.
P values are shown for comparison between non-carriers and all variant carriers as determined by independent samples t-tests and χ2 tests, and for comparison between non-carriers, ‘non-pathogenic’ variant carriers and pathogenic variant carriers, as determined by one-way analysis of variance and χ2 tests. Statistically significant results highlighted in bold.
BDI, Beck Depression Inventory; F, female; M, male; MMSE, Mini-Mental State Examination; NART, National Adult Reading Test; PDQ-39, Parkinson’s Disease Questionnaire 39; PIGD, postural instability and gait disability; UPDRS, Unified Parkinson’s Disease Rating Scale.