Table 1.
Clinical features of sporadic Creutzfeldt‐Jakob patients and Controls.
| Controls n = 26 | sCJD all n = 40 | sCJD included in VBM n = 22 | sCJD excluded from VBM* n = 18 | |
|---|---|---|---|---|
| Age at first evaluation, years, mean ± SD (median, range) | 66 ± 10 (67, 50‐77) | 63 ± 9 (66, 43‐80) | 64 ± 10 (68, 43‐80) | 63 ± 8 (64, 46‐75) |
| Sex, female (%) | 42 | 45 | 36 | 56 |
| Right‐handed (%) | 83 | 94 | 95 | 94 |
| Disease duration at the time of MRI, months, M ± SD (Md, r) | 8 ± 6 (7, 1‐32) | 8 ± 5 (8, 2‐23) | 7 ± 8 (6, 1‐32) | |
| Total disease duration, months, M ± SD (Md, r) | 14 ± 9 (14, 1‐32) | 16 ± 7 (18, 4‐28) 5 | 12 ± 10 (8, 3‐38) | |
| Interval from neuroimaging to death, months, M ± SD (Md, r) | 6 ± 2 (3, 0‐21) | 8 ± 2 (5, 0‐19) | 5 ± 2 (2, 2‐38) | |
| Clinical characteristics 1 (%) | ||||
| Cognitive difficulties | 90 | 86 | 94 | |
| Visual disturbance | 44 | 45 | 41 | |
| Ataxia | 31 | 45 6 | 12 | |
| Hallucinations | 36 | 31 | 41 | |
| Myoclonus | 44 | 31 | 59 | |
| MMSE score, M ± SD (Md, r, n) | 14 ± 10 (16, 0‐29, 38) | 18 ± 8 (19, 1‐29, 22) 7 | 8 ± 9 (5, 0‐29, 16) | |
| NPI score, M ± SD (Md, r, n) | 33 ± 24 (29, 0‐93, 33) | 27 ± 22 (20, 0‐79, 18) | 42 ± 25 (35, 8‐93, 15) | |
| UPDRS motor, M ± SD (Md, r, n) | 17 ± 16 (18, 0‐63, 29) | 16 ± 13 (11, 0‐42, 15) | 26 ± 17 (20, 0‐63, 14) | |
| Barthel index M ± SD (Md, r, n) | 66 ± 37 (80, 0‐100, 33) | 86 ± 23 (95, 15‐100, 19) 7 | 40 ± 38 (25, 0‐100, 14) | |
| CSF t‐tau (pg/mL) M ± SD (Md, r, n) 2 | 3870 ± 4172 (1800, 326‐15308, 29) | 2720 ± 3748 (1429, 326‐15308, 17) 6 | 5497 ± 4517 (4408, 1022‐13597, 12) | |
| CSF NSE (ng/mL) M ± SD (Md, r, n) 3 | 48 ± 47 (31, 4‐180, 26) | 46 ± 47 (31,18‐178, 13) | 49 ± 48 (31,4‐180, 13) | |
| CSF protein 14‐3‐3 | n = 34 | n = 19 | n = 15 | |
| Positive (%) | 44 | 25 6 | 67 | |
| Negative (%) | 18 | 35 6 | 0 | |
| Inconclusive (%) | 38 | 40 | 33 | |
| EEG | n = 36 | n = 21 | n = 15 | |
| Periodic epileptiform discharges (PED) (%) | 25 | 19 | 33 | |
| Slowing without PEDs (%) | 53 | 47 | 60 | |
| Normal (%) | 22 | 34 | 7 | |
| Diffusion‐weighted image pattern (%) | ||||
| Cortical‐subcortical | 55 | 45 | 67 | |
| Cortical‐only | 28 | 41 | 11 | |
| Subcortical‐only | 18 | 14 | 22 | |
| PRNP gene codon 129 genotype (n (%)) | 40 (100) | 22 (100) | 18 (100) | |
| MM (%) | 11 (28) | 6 (27) | 5 (28) | |
| MV (%) | 22 (55) | 14 (64) | 8 (44) | |
| VV (%) | 7 (17) | 2 (9) | 5 (28) | |
| Pathologically confirmed cases (n (%)) | 32 (80) | 18 (82) | 14 (77) | |
| Molecular Classification | ||||
| Prion typing not available (n (%)) | 10 (25)# | 4 (18) | 6 (33)# | |
| Prion typing available (n (%)) | 30 (75)# | 18 (81) | 12 (66) | |
| Fast‐progressors (n (%)) | 11 (35) (2 MM1, 5 MV1, 4 VV2) | 5 (27) (3 MV1, 2 VV2) | 6 (46) (2 MM1, 2 MV1, 2 VV2) | |
| Total disease duration, months, M ± SD, (Md, r) | 7 ± 4 (7, 3‐13) | 8 ± 6 (7, 4‐13) | 6 ± 3 (5.5, 3‐9) | |
| Slow‐progressors (n (%)) | 12 (38) (5 MM2, 6 MV2, 1 VV1) | 9 (50) (4 MM2, 5 MV2) | 3 (23) (1 MM2, 1 MV2, 1 VV1) | |
| Total disease duration, months, M ± SD (Md, r) | 19 ± 6 (20, 7‐27) | 20 ± 5 (20, 9‐27) | 18 ± 5 (23, 7‐24) | |
| Mixed Classification type (n (%)) | 7 (22) (3 MM1‐2, 4 MV1‐2) | 4 (22) (2 MM1‐2, 2 MV1‐2) | 3 (23) (1 MM1‐2, 2 MV1‐2 ) | |
| Total disease duration, months, M ± SD (Md, r) | 9 ± 7 (12, 3‐28) | 18 ± 9 (18, 10‐28) | 14 ± 7 (12, 3‐28) | |
| MRI‐based volume (corrected for TIV) | ||||
| Whole brain (mm 3 × 10 5 ) M (±SD) | 4.7 (±0.6) | 4.2 (±0.4) | ||
| Gray matter (mm 3 × 10 5 ) M (±SD) | 1.8 (±0.1) | 1.7 (±0.1) 4 | ||
| White matter (mm 3 × 10 5 ) M (±SD) | 1.4 (±0.2) | 1.2 (±0.1) | ||
| CSF (mm 3 × 10 5 ) M (±SD) | 1.4 (±0.2) | 1.2 (±0.1) |
CSF, cerebrospinal fluid; TIV, Total Intracranial Volume; MMSE, Mini‐mental state examination; M, Mean; d, median; t‐tau, total tau; NSE, neuronal‐specific enolase; r, range, NPI, Neuropsychiatric inventory; UPDRS, Unified Parkinson’s Disease Rating Scale motor; * = excluded due to poor‐quality MRI. Percentages might not sum to 100% due to rounding. # = 1 pathology‐proven patient had variably protease‐sensitive prion disease which by definition has no prion type identified.
Includes signs and symptoms up until around the time of UCSF MRI.
Abnormal value ≥ 1150 ng/mL.
Abnormal value > 30 ng/mL. Comparisons between all sCJD, sCJD included in VBM, sCJD excluded from VBM, and Controls were done for all the variables in the tables and significant results are noted as below
Compared to Controls, P < 0.01
Compared to sCJD excluded from VBM analysis, P < 0.001
Compared to sCJD excluded from VBM analysis, P < 0.05
Compared to sCJD excluded from VBM analysis, P < 0.01