Table 4.
Histotype classification, demographic features, and biomarker values of prion disease cases
| No. of subjects | Time from onset to LP (months ± SD) | Disease duration (months ± SD) | NfL, pg/ml, median (IQR) | t-taua, pg/ml, median (IQR) | p-tau, pg/ml, median (IQR) | 14-3-3 (positive) | RT-QuIC (positive) | |
|---|---|---|---|---|---|---|---|---|
| Definite sCJD | 97 | |||||||
| MM(V)1 | 37 | 2.0 ± 2.0 | 3.6 ± 2.8 | 9600 (6507–14,750) | 6388 (2255–9258) | 47 (37–59) | 33/37 | 32/37 |
| VV2 | 26 | 3.8 ± 1.2 | 5.5 ± 2.2 | 22,800 (14,050–30,550) | 9729 (5334–14,850) | 71 (62–95) | 25/26 | 22/26 |
| MV2K | 22 | 7.3 ± 4.2 | 18.8 ± 13.5 | 16,100 (9650–24,275) | 1972 (1454–2789) | 55 (43–88) | 12/22 | 18/22 |
| MM2C | 8 | 10.4 ± 7.1 | 22.8 ± 14.0 | 8808 (6558–9908) | 1457 (821–2488) | 37 (19–64) | 3/8 | 4/8 |
| MM2T | 2 | 12; 13 | 24; 36 | 12,100; 7959 | 630; 102 | 20; 25 | 0/2 | 1/2 |
| VV1 | 1 | 10 | 13.5 | 31,800 | 3790 | 49 | 1/1 | 1/1 |
| VPSPr (VV) | 1 | 3 | 36 | 3212 | 1273 | 140 | 1/1 | 0/1 |
| Definite gCJD | 16 | |||||||
| E200K-129M | 11 | 3.2 ± 2.5 | 15.3 ± 15 | 9088 (5976–15,000) | 1881 (892–2955) | 34 (26–48) | 7/11 | 11/11 |
| V210I-129M | 4 | 4.1 ± 4.0 | 7.0 ± 6.0 | 5587 (4438–6772) | 4907 (2316–7148) | 36 (30–36) | 3/4 | 4/4 |
| D178N-129V | 1 | 3.5 | Alive | 4909 | 2206 | 44 | 1/1 | 0/1 |
| Probable CJD | 27 | |||||||
| MM | 4 | 2.7 ± 2.6 | – | 8345 (5345–18,323) | 3393 (797–4633) | 44 (34–62) | 2/4 | 3/4 |
| MV | 14 | 11.0 ± 8.2 | – | 14,700 (6163–23,425) | 2042 (1260–3709) | 68 (47–87) | 5/14 | 10/14 |
| VV | 9 | 2.8 ± 1.0 | – | 27,400 (16,500–35,200) | 13,300 (4544–16,350) | 82 (58–103) | 9/9 | 7/9 |
| GSS | 1 | 18 | Alive | 5221 | 566 | NA | 0/1 | 0/1 |
Abbreviations: CJD Creutzfeldt-Jakob disease, gCJD Genetic Creutzfeldt-Jakob disease, GSS Gerstmann-Sträussler-Scheinker syndrome, LP Lumbar puncture, MM(V)1 Methionine homozygosity (valine) and scrapie prion protein type 1, MM2C Methionine homozygosity and scrapie prion protein type 2, cortical type, MM2T Methionine homozygosity and scrapie prion protein type 2, thalamic type, MV2K Methionine/valine heterozygosity and scrapie prion protein type 2, kuru type, NfL Neurofilament light chain protein, p-tau Phosphorylated tau protein, RT-QuIC Real-time quaking-induced conversion, sCJD Sporadic Creutzfeldt-Jakob disease, t-tau Total tau protein, VPSPr Variably protease-sensitive prionopathy, VV1 Valine homozygosity and scrapie prion protein type 1, VV2 Valine homozygosity and scrapie prion protein type 2
at-tau: VV2 vs. MV2K or MM2C (p < 0.001); MM(V)1 vs. MV2K or MM2C (p < 0.001)