TABLE 3.
Summary of the demographic data, genetic, instrumental and laboratory findings of the sCJD patients who underwent OM collection.
| Patient | Sex (Male) |
PRNP 129 |
Type of PrPres |
14.3.3 | p-tau (pg/mL) | t-tau (pg/mL) | Mutation | Positive MRI (Y/N) |
Dementia (Y/N) |
EEG | Age at onset (years) | Disease duration at OM collection (months) | Time to death at OM collection (months) | Disease duration (months) | OM RT-QuIC results |
CSF RT-QuIC results |
| 1 | + | MM | nd | Weakly positive | 22 | 4,261 | Y | Y | Refractory status epilepticus | 57 | 2.9 | 17.4 | 20.3 | + | + | |
| 2 | - | MM | nd | nd | nd | nd | Y | Y | Triphasic | 55 | 2.3 | 1.2 | 3.6 | + | nd | |
| 3 | - | MM | 1 | Positive | nd | 30,150 | Y | Y | Triphasic | 42 | 5.0 | 29.2 | 34.2 | + | nd | |
| 4 | - | MM | nd | Positive | 59 | 1,126 | E200K | Y | Y | Slow waves | 54 | 9.1 | 1.0 | 10.1 | + | nd |
| 5 | + | MM | nd | Negative | 27 | 292 | Y | Y | No periodic | 45 | 19.2 | 23.8 | 43.0 | + | nd | |
| 6 | + | MM | nd | Positive | 118 | 1,698 | Y | Y | Normal | 65 | 7.8 | 27.9 | 35.7 | + | + | |
| 7 | + | MM | 1 | Positive | 41 | 6,220 | Y | Y | Triphasic | 55 | 2.0 | 1.4 | 3.4 | + | nd | |
| 8 | + | MM | nd | Weakly positive | nd | 1,187 | Y | Y | Triphasic | 42 | 1.0 | 48.4 | 49.4 | + | + | |
| 9 | - | MM | nd | Weakly positive | 39 | 879 | Y | Y | Triphasic | 78 | 7.0 | 5.8 | 12.8 | + | + | |
| 10 | + | MM | nd | Positive | 42 | 7,934 | Y | Y | Triphasic | 70 | 1.8 | 0.3 | 2.0 | + | + | |
| 11 | - | MM | 1 | Positive | 86 | 2,633 | Y | Y | Triphasic | 59 | 7.3 | 22.1 | 29.4 | + | + | |
| 12 | - | MM | 1 | Positive | 46 | >2,400 | Y | Y | Triphasic | 74 | 0.9 | 1.2 | 2.0 | + | + | |
| 13 | + | MM | 1 | Positive | 25 | >2,400 | Y | Y | Triphasic | 72 | 2.3 | 2.3 | 4.6 | + | + | |
| 14 | + | MM | 1 | Positive | 31 | >2,400 | Y | Y | Triphasic | 65 | 1.2 | 0.7 | 1.9 | + | + | |
| 15 | - | MV | nd | nd | nd | nd | E200K | N | Y | Slow waves | 71 | 37.3 | 6.7 | 44.0 | + | nd |
| 16 | + | MV | 1 | Negative | 38 | 680 | Y | Y | Triphasic | 77 | 14.0 | 10.6 | 24.5 | + | + | |
| 17 | - | MV | nd | Weakly positive | 53 | 3,057 | Y | Y | Slow waves | 65 | 12.9 | 10.3 | 23.2 | + | nd | |
| 18 | + | MV | nd | Weakly positive | nd | nd | nd | nd | nd | nd | nd | 5.9 | nd | + | nd | |
| 19 | + | MV | 1 | Positive | 65 | 1,788 | Y | Y | No periodic | 69 | 8.0 | 3.2 | 11.2 | + | + | |
| 20 | - | MV | 2 | nd | 80 | 2,101 | Y | Y | Slow waves | 62 | 4.4 | 24.5 | 28.9 | + | + | |
| 21 | + | MV | 2 | Weakly positive | 16.7 | 1,076 | Y | Y | Slow waves | 64 | 5.1 | 4.8 | 9.9 | + | + | |
| 22 | - | MV | 2 | Weakly positive | 76 | 1,986 | Y | Y | Slow waves | 74 | 7.4 | 7.5 | 14.8 | + | + | |
| 23 | + | MV | 2 | Negative | 55 | 1,905 | Y | Y | Triphasic | 79 | 8.2 | 4.2 | 12.4 | + | + | |
| 24 | - | VV | nd | Positive | 92.8 | 18,470 | Y | Y | No periodic | 61 | 4.6 | 6.5 | 11.1 | + | nd | |
| 25 | + | VV | 2 | nd | nd | nd | Y | Y | Normal | 66 | 5.7 | 3.5 | 9.3 | + | nd | |
| 26 | - | VV | 2 | Positive | 75 | 15,575 | Y | Y | No periodic | 55 | 8.5 | 0.6 | 9.1 | + | nd | |
| 27 | - | VV | 2 | Positive | 81 | 15,750 | Y | Y | Slow waves | 57 | 3.3 | 1.2 | 4.5 | + | nd | |
| 28 | - | VV | nd | Positive | nd | 5,026 | Y | Y | Triphasic | 66 | 1.5 | 1.1 | 2.6 | + | nd | |
| 29 | + | VV | 2 | Positive | 61 | >2,400 | Y | N | Slow waves | 40 | 2.0 | 3.0 | 5.0 | + | + |