Table 2.
PPMI (cohort at enrollment) | PASADENA | SPARK | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NSD | Sporadic PD (N = 507) |
LRRK2 PD (N = 87) |
GBA PD (N = 56) |
SNCA PD (N = 9) |
PRKN PD (N = 2) |
RBD (N = 61) |
Hyposmia (N = 40) |
LRRK2 NMC (N = 12) |
GBA NMC (N = 11) |
SNCA NMC (N = 3) |
HC (N = 15) |
Early PD (N = 61) |
Early PD (N = 110) |
Age (Years), Mean (SD) | 62.4 (9.2) | 60.1 (8.8) | 60.7 (10.3) | 46.3 (8.9) | 70.0 (12.4) | 69.8 (5.4) | 67.5 (5.1) | 66.9 (8.9) | 63.3 (6.1) | 43.6 (1.4) | 67.2 (8.4) | 60.2 (9.8) | 61.1 (8.2) |
Sex, n (%) | |||||||||||||
Male | 336 (66%) | 52 (60%) | 36 (64%) | 4 (44%) | 2 (100%) | 47 (77%) | 20 (50%) | 8 (67%) | 5 (45%) | 0 | 10 (67%) | 42 (69%) | 71 (65%) |
Female | 171 (34%) | 35 (40%) | 20 (36%) | 5 (56%) | 0 | 14 (23%) | 20 (50%) | 4 (33%) | 6 (55%) | 3 (100%) | 5 (33%) | 19 (31%) | 39 (35%) |
Years Since PD Diagnosis, Mean (SD) | 0.7 (0.6) | 3.0 (2.2) | 2.6 (2.4) | 3.0 (2.2) | 0.3 (0.0) | NA | NA | NA | NA | NA | NA | 0.9 (0.5) | 0.6 (0.6) |
MDS-UPDRS Item 1.1 Score, n (%) | |||||||||||||
0: Normal | 378 (75%) | 58 (67%) | 36 (64%) | 5 (56%) | 2 (100%) | 36 (59%) | 28 (70%) | 8 (67%) | 9 (82%) | 3 (100%) | 15 (100%) | 48 (79%) | 98 (89%) |
1: Slight | 116 (23%) | 24 (28%) | 18 (32%) | 3 (33%) | 0 | 19 (31%) | 12 (30%) | 4 (33%) | 2 (18%) | 0 | 0 | 9 (15%) | 8 (7%) |
2–4: Mild to Severe | 13 (3%) | 5 (6%) | 2 (4%) | 1 (11%) | 0 | 6 (10%) | 0 | 0 | 0 | 0 | 0 | 4 (7%) | 4 (4%) |
MDS-UPDRS Part I, Mean (SD) | 5.6 (4.1) | 8.2 (5.7) | 8.4 (5.0) | 9.1 (5.3) | 4.5 (3.5) | 7.9 (4.4) | 5.0 (3.6) | 3.9 (3.8) | 5.8 (6.0) | 3.7 (3.8) | 3.0 (1.8) | 4.6 (4.0) | 4.0 (3.8) |
MDS-UPDRS Part II, Mean (SD) | 5.7 (4.2) | 7.8 (6.0) | 8.5 (5.8) | 9.9 (5.2) | 2.5 (0.7) | 2.2 (2.8) | 1.7 (2.4) | 0.9 (1.2) | 2.2 (4.4) | 0.0 (0.0) | 0.3 (0.6) | 5.0 (3.6) | 4.8 (3.6) |
MDS-UPDRS Part III (OFF), Mean (SD) | 21.4 (8.9) | 23.9 (12.0) | 27.3 (11.1) | 14.9 (10.7) | 9.5 (0.7) | 4.6 (3.7) | 2.8 (3.4) | 2.8 (4.6) | 2.9 (4.9) | 0.0 (0.0) | 1.0 (2.0) | 22.6 (9.2) | 23.7 (8.9) |
Missing | 1 | 19 | 5 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Subthreshold Parkinsonisma, n (%) | 505 (>99%) | 67 (99%) | 51 (100%) | 9 (100%) | 2 (100%) | 17 (28%) | 6 (15%) | 2 (17%) | 2 (18%) | 0 | 0 | 59 (97%) | 110 (100%) |
MOCA Total Score, Mean (SD) | 27.0 (2.4) | 26.9 (2.6) | 26.5 (2.2) | 25.1 (6.4) | 28.5 (0.7) | 26.3 (3.7) | 26.6 (2.2) | 26.1 (3.0) | 27.3 (2.2) | 26.7 (2.3) | 27.7 (1.8) | 28.1 (1.8) | 27.6 (1.7) |
On PD Treatment, n (%) | 0 | 71 (82%) | 42 (75%) | 8 (89%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 60 (98%)b | 0 |
UPSIT Percentile ≤15, n (%) | 406 (82%) | 63 (76%) | 53 (96%) | 9 (100%) | 2 (100%) | 58 (97%) | 40 (100%) | 3 (25%) | 6 (55%) | 3 (100%) | 9 (60%) | NA | NA |
Age/Sex-Expected Lowest Putamen SBR <75%, n (%) | 505 (>99%) | 87 (100%) | 56 (100%) | 9 (100%) | 2 (100%) | 42 (69%) | 30 (75%) | 5 (42%) | 1 (9%) | 0 | 1 (7%) | 61 (100%) | 96 (87%) |
Hoehn and Yahr Stage, n (%) | |||||||||||||
0: Asymptomatic | 0 | 0 | 0 | 0 | 0 | NA | NA | NA | NA | NA | NA | NA | 0 |
1: Unilateral Involvement only | 198 (39%) | 17 (25%) | 15 (31%) | 4 (44%) | 2 (100%) | NA | NA | NA | NA | NA | NA | NA | 40 (36%) |
2: Bilateral Involvement without impairment of balance | 309 (61%) | 47 (69%) | 32 (65%) | 4 (44%) | 0 | NA | NA | NA | NA | NA | NA | NA | 65 (59%) |
3: Mild to Moderate Involvement | 0 | 4 (6%) | 2 (4%) | 1 (11%) | 0 | NA | NA | NA | NA | NA | NA | NA | 2 (2%) |
Missing | 0 | 19 | 7 | 0 | 0 | NA | NA | NA | NA | NA | NA | NA | 3 (3%) |
One sporadic PD participant was missing a score for MDS-UPDRS Part I. Three sporadic PD and one LRRK2 PD participants were missing a MoCA score. Ten sporadic PD, 4 LRRK2 PD, 1 GBA PD, and 1 RBD participant were missing an UPSIT score.
HC Healthy controls. MDS-UPDRS Movement Disorder Society Unified Parkinson’s Disease Rating Scale.
MoCA Montreal Cognitive Assessment, NMC non-manifesting carriers, PD Parkinson’s disease, RBD REM sleep behavior disorder, SBR Striatal Binding Ratio, UPSIT University of Pennsylvania Smell Identification Test.
aMDS-UPDRS Part III >4 excluding postural and action tremor.
bParticipants in PASADENA study were allowed to be on a stable dose of monoamine oxidase inhibitors B (MAOB) at enrollment.