Table 4 Histotype classification, demographic features, and biomarker values of prion disease cases
From: The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias
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 |