From: Low activity of complement in the cerebrospinal fluid of the patients with various prion diseases
Clinical features | non-CJD | sCJD | gCJD | FFI | |
---|---|---|---|---|---|
T188K | E200K | ||||
Number (n) | 145 | 136 | 25 | 14 | 22 |
Gender (M/F) | 71/74 | 72/64 | 16/9 | 7/7 | 9/13 |
Median age at onset (range) (y) | 61 (45–89) | 65 (47–81) | 50 (40–85) | 56 (44–68) | 47.5 (19–63) a |
Age at onset <50 years (%) | 7(4.8) | 3 (2.2) | 2 (8) | 4 (28.6) | 12 (54.5) |
Age at onset 50–70 years (%) | 114 (78.6) | 96 (70.6) | 17 (68) | 10 (71.4) | 10 (45.5) |
Age at onset >70 years (%) | 24 (16.6) | 37 (27.2) | 6 (24) | 0 (0) | 0 (0) |
Patients with PRNP gene sequenced (%) | 145 (100) | 136 (100) | 25 (100) | 14 (100) | 22 (100) |
Codon 129 genotype | |||||
Met-Met/Total (%) | 143/145 (98.6) | 133/136 (97.8) | 13/25 (100) | 14/14 (100) | 22/22 (100) |
Met-Val/Total (%) | 2/145 (1.4) | 3/136 (2.2) | 0/25 (0) | 0/14 (0) | 0/22 (0) |
Val-Val/Total (%) | 0/145 (0) | 0/136 (0) | 0/25 (0) | 0/14 (0) | 0/22 (0) |
EEG Typical/Total (%) | 9/145 (6.2) | 92/136 (67.6) b | 3/25 (12) | 8/14 (57.1) b | 0/22 (0) |
14–3–3 Positive/Total (%) | 29/145 (20) | 99/136 (72.8) b | 18/25 (72) b | 14/14 (100) b | 6/22 (27.2) |
Progressive dementia/Total (%) | 121/145 (83.4) | 128/136 (94.1) b | 20/25 (80) | 13/14 (92.9) | 17/22 (77.3) |
Myoclonus (%) | 33/145 (22.8) | 106/136 (77.9) b | 15/25 (60) b | 10/14 (71.4) b | 12/22 (54.5) b |
Visual or cerebellar disturbance (%) | 22/145 (15.2) | 88/136 (64.7) b | 18/25 (72) b | 11/14 (78.6) b | 11/22 (50) b |
Pyramidal or extramidal dysfunction (%) | 70/145 (48.3) | 104/136 (76.5) b | 19/25 (76)c | 12/14 (85.7) c | 13/22 (59.1) |
Akinetic mutism (%) | 24/145 (16.6) | 66/136 (48.5) b | 10/25 (40)c | 8/14 (57.1) b | 3/22 (13.6) |