Table 1.
Baseline demographics of N4PB and RT-QuIC cohorts
| PRNP c129 | ||||||||
|---|---|---|---|---|---|---|---|---|
| Cohorts/cohort subgroups | Number of samples | Unique individuals | Mean age at sample, y (SD) | F/M | MM | MV | VV | PRNP untested/unknown |
| Plasma N4PB | ||||||||
| IPD-AR | 217 | 69 | 43.9 (13.3) | 128/89 | 96 | 57 | 0 | 64 |
| ȃIPD-AR >2 y | 198 | 66 | 49.0 (13.2) | 115/83 | 82 | 52 | 0 | 64 |
| ȃIPD-AR <2 y | 19 | 14 | 43.4 (13.3) | 13/6 | 14 | 5 | 0 | 0 |
| ȃP102L | 100 | 33 | 43.7 (10.4) | 68/32 | 26 | 25 | 0 | 49 |
| ȃE200K | 59 | 22 | 52.2 (15.9) | 23/36 | 44 | 7 | 0 | 8 |
| ȃMiscellaneous IPD | 58 | 15 | 35.9 (9.17) | 37.0/21 | 31 | 25 | 0 | 2 |
| c-hGH iCJD-AR | 3 | 2 | 55.7 (0.6) | 1/2 | 1 | 0 | 0 | 1 |
| Symptomatic IPD | 62 | 26 | 50.9 (11.8) | 40/22 | 33 | 29 | 0 | 0 |
| CJD | 40 | 18 | 52.0 (14.5) | 12/28 | 16 | 19 | 5 | 0 |
| Healthy controls | ||||||||
| ȃGFAP and NfL | 132 | 84 | 49.7 (13.5) | 66/66 | 0 | 0 | 0 | 127 |
| ȃTau and UCH-L1 | 89 | 41 | 51.9 (13.1) | 38/51 | 0 | 0 | 0 | 89 |
| CSF N4PB | ||||||||
| IPD-AR | 67 | 40 | 46.9 (12.4) | 36/31 | 29 | 15 | 0 | 21 |
| ȃIPD-AR >2 y | 64 | 37 | 47.0 (12.2) | 33/31 | 26 | 15 | 0 | 21 |
| ȃIPD-AR <2 y | 3 | 3 | 46.4 (19.2) | 3/0 | 3 | 0 | 0 | 0 |
| ȃP102L | 30 | 16 | 46.0 (12.1) | 18/12 | 6 | 5 | 0 | 19 |
| ȃE200K | 23 | 16 | 54.1 (10.7) | 11/12 | 16 | 5 | 0 | 2 |
| ȃMiscellaneous IPD | 14 | 8 | 37.3 (8.4) | 7/7 | 7 | 5 | 0 | 2 |
| c-hGH iCJD-AR | 5 | 4 | 53.8 (3.0) | 1/4 | 1 | 0 | 0 | 4 |
| Symptomatic IPD | 22 | 21 | 48.4 (13.6) | 14/8 | 14 | 8 | 0 | 0 |
| CJD | 17 | 17 | 60.6 (10.7) | 10/7 | 7 | 9 | 0 | 1 |
| Healthy controls | 24 | 24 | 69.1 (6.8) | 12/12 | 0 | 1 | 0 | 23 |
| CSF RT-QuIC | ||||||||
| IPD-AR | 61 | 39 | 46.5 (12.3) | 31/30 | 28 | 13 | 0 | 20 |
| ȃIPD-AR >2 y | 58 | 36 | 46.5 (12.1) | 28/30 | 25 | 13 | 0 | 20 |
| ȃIPD-AR <2 y | 3 | 3 | 46.4 (19.2) | 3/0 | 3 | 0 | 0 | 0 |
| ȃP102L | 27 | 16 | 45.4 (11.7) | 17/10 | 6 | 5 | 0 | 16 |
| ȃE200K | 22 | 16 | 53.5 (10.8) | 10/12 | 15 | 5 | 0 | 2 |
| ȃMiscellaneous IPD | 12 | 7 | 36.2 (8.6) | 5/7 | 7 | 3 | 0 | 2 |
| c-hGH iCJD-AR | 4 | 4 | 53.3 (3.1) | 1/3 | 1 | 0 | 0 | 3 |
| Symptomatic IPD | 20 | 20 | 48.9 (13.4) | 13/7 | 12 | 8 | 0 | 0 |
| CJD | 17 | 17 | 59.4 (10.5) | 10/7 | 7 | 10 | 0 | 0 |
| Non-prion controls | 59 | 59 | 65.4 (14.5) | 28/31 | 0 | 1 | 0 | 58 |
c129 = codon 129; F/M = female/male; MM = methionine homozygous; MV = methionine-valine heterozygous; SD = standard deviation; VV = valine homozygous.