Table 1.
Profiles of the 3 cases with CJD180
| Our cases |
Previously reported1 |
||||
|---|---|---|---|---|---|
| case 1 | case 2 | case 3 | CJD180 | sCJD | |
| Age/sex | 70/F | 67/F | 70/M | 70.3 ± 3.9 | 65.3 ± 11.6 |
| Family history | − | − | − | − | − |
| Myoclonic jerk, months | 6 | 6 | 4 | 8.0 ± 4.5 | 2.7 ± 2.4 |
| Visual symptoms | − | − | − | 0% (0/4) | 24% (23/96) |
| Cerebellar symptoms | − | − | − | 0% (0/4) | 12.5% (12/96) |
| Akinetic mutism, months | 12 | 18 | 7 | 11.3 ± 2.2 | 3.5 ± 2.8 |
| Total tau, pg/ml | 3,811 | 2,325 | 3,675 | NE | 89.6% (86/96) |
| Phosphorylated tau, pg/ml | 39.4 | 40.8 | 36.1 | NE | NE |
| NSE, ng/ml | 34 | 22 | 13 | 50% (2/4) | 72.7% (48/66) |
| S100 protein, ng/ml | 0.23 | 0.35 | 0.13 | NE | NE |
| 14-3-3 protein | − | − | − | 0% | 87.7% (57/65) |
| PSD | − | − | − | 0% | 94% (110/116) |
| Codon 129 in PRNP | M/M | M/M | M/M | MM 40%; MV60% | MM 91%; MV 9% |
| Codon 219 in PRNP | E/E | E/E | E/E | E/E 100% | E/E 92%; E/K8% |
| Type of PrPSc | type 1+2 | NE | NE | NE | type 1 or type 2 |
Range of t-tau protein levels: 800–15,000 ng/ml, CJD with values >1,300 pg/ml.
Range of p-tau protein levels: 8–120 ng/ml.
Range of NSE levels: 2–200 ng/ml, CJD with values >35 ng/ml.
Range of S100 protein levels: 0.001–25 ng/ml, CJD with values >2.2 ng/ml.
We analyzed the cutoff data of t-tau protein, NSE and S100 protein of CSF among 128 CJD patients and 100 non-CJD patients (DAT, vascular dementia, Pick's disease, Parkinson's disease, corticobasal degeneration, Huntington's disease, frontotemporal dementia, progressive supranuclear palsy, mild cognitive impairment, amyotrophic lateral sclerosis, temporal epilepsy, limbic encephalopathy, paraneoplastic cerebellar degeneration/Lambert- Eaton myasthenic syndrome, MELAS and encephalopathy due to unknown etiology). The most appropriate cutoff levels of biomarkers (t-tau protein, NSE and S100 protein of CSF) in CJD patients were evaluated using the receiver-operating characteristics curve method. The sensitivities for t-tau protein, 14-3-3 protein, NSE and S100 protein of CSF in classical CJD patients (n = 128) were 95.9, 88.7, 81.5 and 33.1%, respectively (data not shown).
In all 3 patients, the polymorphism in PRNP at codon 129 was homozygous for methionine (M/M), while the polymorphism in PRNP at codon 219 was homozygous for glutamic acid (E/E).
NE = Not examined; M = methionine; V = valine; K = lysine; E = glutamic acid.
As previously reported by Jin et al. [3], the average level of ttau protein of classical CJD patients (n = 128) was 5,689 ± 169 pg/ml (average ± 1 SD).