Table 2.
Clinicopathological findings of the three patients with MM1 type and two patients with MM2C type sporadic Creutzfeldt–Jakob disease.
| |
Patient 7 |
Patient 8 |
Patient 9 |
Patient 10 |
Patient 11 |
|---|---|---|---|---|---|
| Type of CJD | MM1 | MM1 | MM1 | MM2C | MM2C |
| Clinical features | |||||
| Age at onset | 88 | 82 | 80 | 68 | 67 |
| Age at death | 88 | 82 | 81 | 68 | 67 |
| Sex | Female | Male | Female | Male | Male |
| Family history | − | − | − | − | − |
| Total disease duration | 4 months | 5 months | 5 months | 5 months | 5 months |
| Initial symptoms | Left hemiparesis | Disorientation | Aphasia, right hemiparesis | Dementia | Dementia |
| Major symptoms and signs | Dementia, dysbasia | Dementia | Right hemiparesis, dementia | Dementia | Dementia |
| Cerebral cortical dysfunction at early disease stage | + | + | + | + | + |
| Visual symptoms at early disease stage | − | − | − | − | − |
| Parkinsonism at early disease stage | − | − | − | − | − |
| Cerebellar symptoms at early disease stage | − | − | − | − | − |
| Myoclonus | + | + | + | + | + |
| Akinetic mutism state (Time to reach) | + (1 month) | + (3 month) | + (2 month) | + (5 months) | + (5 months) |
| Cause of death | Pneumonia | Pneumonia | Respiratory failure | Respiratory failure | Respiratory failure |
| MRI study | |||||
| MRI study | + (2 months after the onset) | + (1 months after the onset) | + (3 months after the onset) | + (5 months after the onset) | + (2 months after the onset) |
| DWI hyperintensity (Observed region) | + (cerebral cortex) | + (cerebral cortex) | + (cerebral cortex) | + (cerebral cortex) | + (cerebral cortex) |
| Cerebral white matter lesion | − | − | − | − | − |
| CSF study | |||||
| NSE (ng/mL) | 29.9 | 145.4 | 126.3 | N.E. | 22.4 |
| 14-3-3 protein (μg/mL) | 4044 | 4014 | 12250 | N.E. | N.E. |
| Tau (pg/mL) | 2400 | > 1200 | 27870 | N.E. | N.E. |
| EEG study | |||||
| PSWC | + | + | + | + | + |
| Slowing | + | + | + | + | + |
| PrP gene analysis | |||||
| Codon 129 polymorphism | Met/Met | Met/Met | Met/Met | Met/Met | Met/Met |
| Codon 219 polymorphism | Glu/Glu | Glu/Glu | Glu/Glu | Glu/Glu | Glu/Glu |
| Pathological findings | |||||
| Brain weight (g) | 910 | 960 | 940 | 1300 | 1385 |
| Spongiform degeneration | Widely | Widely | Widely | Widely | Widely |
| in the cerebral cortex | observed | observed | observed | observed | observed |
| PrP immunostaining | synaptic | synaptic | synaptic | perivacuolar and coarse plaques | perivacuolar and coarse plaques |
| Neurofibrillary tangles | Braak stage II/III | Braak stage II/III | Braak stage II | Braak stage I | Braak stage I |
| Senile plaques | CERAD C | CERAD 0 | CERAD 0 | CERAD 0 | CERAD 0 |
| Western blot analysis of PrP | Type 1 | Type 1 | Type 1 | Type 2 | Type 2 |
DWI, diffusion-weighted image; NE, not examined; NSE, neuron-specific enolase; EEG, electroencephalogram; PSWC, periodic sharp-wave complexes; Met, methionine; Val, valine; Glu, glutamic acid; CJD, Creutzfeldt–Jakob disease; CSF, cerebrospinal fluid; MRI, magnetic resonance imaging; PrP, prion protein; CERAD, Consortium to Establish a Registry for Alzheimer's disease