Table 1.
Cohort demographics
| Whole Cohort | GBA1/LRRK2 Negativeb | GBA1 Carriers | p | LRRK2 Carriers | p | |
|---|---|---|---|---|---|---|
| N (%) | 1689 | 1483 | 159c | 44c | ||
| Variant, n (%) | ||||||
| GBA1 Risk | 94 (59) | |||||
| GBA1 Mild | 42 (26) | |||||
| GBA1 Severe | 23 (14) | |||||
| LRRK2 G2019S | 41 (93)d | |||||
| Sex, n (%)a | ||||||
| Female | 608 (36) | 517 (35) | 67 (42) | 0.081 | 23 (51) | 0.048 |
| Male | 1080 (64) | 965 (65) | 92 (58) | 21 (49) | ||
| Ethnicity, n (%) | ||||||
| Hispanic or Latino | 34 (2) | 31 (2) | 2 (1) | nt | 1 (2) | nt |
| Not Hispanic or Latino | 1654 (98) | 1451 (98) | 157 (99) | 43 (98) | ||
| Unknown or not reported | 1 (<1) | 1 (<1) | 0 (0) | 0 (0) | ||
| Race, n (%) | ||||||
| White | 1532 (91) | 1334 (90) | 155 (98) | nt | 40 (91) | nt |
| Black or African American | 78 (5) | 76 (5) | 2 (1) | 0 (0) | ||
| Am Indian/Alaska Native | 1 (<1) | 1 (<1) | 0 (0) | 0 (0) | ||
| Asian | 56 (3) | 54 (4) | 0 (0) | 2 (4) | ||
| More than one race | 9 (<1) | 6 (<1) | 2 (1) | 1 (2) | ||
| Other | 5 (<1) | 4 (<1) | 0 (0) | 1 (2) | ||
| Unknown or not reported | 8 (<1) | 8 (1) | 0 (0) | 0 (0) | ||
| Age, mean (SD) | ||||||
| At diagnosis | 62 (11) | 62 (11) | 61 (10) | 0.215 | 61 (11) | 0.347 |
| At enrollment | 69 (9) | 69 (9) | 67 (9) | 0.049 | 70 (9) | 0.683 |
| Clinical Presentation at Onset | ||||||
| Tremor | 865 (51) | 764 (52) | 77 (49) | 0.482 | 22 (50) | 0.482 |
| Gait Disorder | 191 (11) | 170 (11) | 18 (11) | 2 (5) | ||
| Mixed | 120 (7) | 101 (7) | 16 (10) | 3 (7) | ||
| Neither | 513 (31) | 448 (30) | 48 (30) | 17 (38) | ||
| 1st Degree Family History | ||||||
| None | 1401 (83) | 1241 (84) | 128 (80) | 0.225 | 30 (68) | 0.002 |
| PD | 155 (9) | 122 (8) | 20 (13) | 12 (27) | ||
| Other NDD | 108 (6) | 99 (7) | 8 (5) | 1 (2) | ||
| Both | 25 (2) | 21 (1) | 3 (2) | 1 (2) | ||
GBA1 (N = 3) and LRRK2 (N = 2) homozygotes and 1 individual carrying two different variants in GBA1 were included.
a1 missing/unreported. Nt not tested.
bIncludes 28 cases without DNA available. Box indicates corrected p < 0.05 relative to GBA1/LRRK2 Negative group. P values after Benjamini-Hochberg multiple testing correction are reported.
cThree individuals carried variants in both GBA1 and LRRK2 (all were GBA1 N409S/LRRK2 G2019S) and are excluded. NDD neurodegenerative disease.
d3 LRRK2 G2385R carriers were identified (6% of LRRK2 carriers).
Significant differences among groups are indicated in bold type.