PDwildtype n = 107 | PDGBA_risk n = 53 | PDGBA_mild n = 17 | PDGBA_severe n = 29 | PDLRRK2 n = 9 | PDrecessive_heterozygous n = 17 | PDrecessive_bi-allelic n = 3 | p value | |
---|---|---|---|---|---|---|---|---|
Male sex % | 70 | 70 | 65 | 66 | 33 | 41 | 33 | 0.096 |
Age (y) | 65 ± 8 | 65 ± 9 | 66 ± 9 | 59 ± 10 | 65 ± 13 | 62 ± 13 | 63 ± 9 | 0.070 |
Age at onset (y) | 61 ± 8 | 58 ± 10 | 57 ± 9 | 51 ± 10 | 53 ± 14 | 51 ± 13 | 36 ± 6 | ≤ 0.001 |
Disease Duration (y) | 5 ± 3 | 8 ± 5 | 8 ± 6 | 9 ± 7 | 12 ± 7 | 11 ± 10 | 27 ± 2 | ≤ 0.001 |
UPDRS III | 23 ± 10 | 28 ± 11 | 28 ± 13 | 27 ± 13 | 27 ± 9 | 27 ± 11 | 22 ± 1 | 0.265 |
MoCA | 26 ± 3 | 24 ± 5 | 25 ± 6 | 24 ± 5 | 24 ± 4 | 26 ± 3 | 27 ± 5 | 0.005 |
LEDD | 389 ± 259 | 595 ± 363 | 626 ± 252 | 701 ± 545 | 802 ± 399 | 830 ± 1241 | 1497 ± 1481 | |
RT-QuIC positive (%) | 97 (91) | 48 (91) | 11 (65) | 27 (93) | 7 (78) | 10 (59) | 0 (0) | ≤ 0.001 |
RT-QuIC 0/4 positive (%) | 10 (9) | 5 (9) | 6 (35) | 2 (7) | 2 (22) | 7 (41) | 3 (100) | ≤ 0.001 |
RT-QuIC 2/4 positive (%) | 13 (12) | 1 (2) | 1 (6) | 0 (0) | 0 (0) | 3 (18) | 0 (0) | |
RT-QuIC 3/4 positive (%) | 29 (27) | 11 (21) | 3 (18) | 5 (17) | 3 (33) | 3 (18) | 0 (0) | |
RT-QuIC 4/4 positive (%) | 55 (52) | 36 (68) | 7 (41) | 22 (76) | 4 (45) | 4 (23) | 0 (0) | |
RT-QuIC AUC | 713 ± 238 | 795 ± 281 | 797 ± 157 | 858 ± 179 | 843 ± 191 | 702 ± 202 | n.a | 0.048 |
RT-QuIC Imax | 68 ± 14 | 71 ± 15 | 72 ± 12 | 71 ± 10 | 75 ± 7 | 67 ± 12 | n.a | 0.378 |
RT-QuIC LAG | 21 ± 3 | 20 ± 3 | 20 ± 2 | 19 ± 2 | 19 ± 3 | 21 ± 2 | n.a | 0.009 |
CSF total α-Syn pg/ml | 578 ± 279 | 560 ± 212 | 489 ± 220 | 512 ± 273 | 712 ± 319 | 567 ± 221 | 840 ± 487 | 0.171 |
CSF Aβ1–42 pg/ml | 679 ± 249 | 684 ± 268 | 706 ± 214 | 779 ± 248 | 972 ± 302 | 753 ± 299 | 854 ± 262 | 0.208 |
CSF t-Tau pg/ml | 232 ± 127 | 265 ± 152 | 241 ± 100 | 203 ± 86 | 334 ± 190 | 261 ± 144 | 179 ± 19 | 0.191 |
CSF p-Tau pg/ml | 41 ± 16 | 39 ± 12 | 43 ± 15 | 36 ± 16 | 54 ± 21 | 45 ± 20 | 42 ± 6 | 0.227 |
NFL pg/ml | 894 ± 633 | 1042 ± 1320 | 1099 ± 965 | 839 ± 635 | 832 ± 311 | 720 ± 419 | 571 ± 87 | 0.816 |