Table 1.
Clinicopathological findings of the six patients with V180I genetic Creutzfeldt–Jakob disease.
| |
Patient 1 |
Patient 2 |
Patient 3 |
Patient 4 |
Patient 5 |
Patient 6 |
|---|---|---|---|---|---|---|
| Clinical features | ||||||
| Age at onset | 87 | 84 | 80 | 78 | 73 | 73 |
| Age at death | 87 | 85 | 82 | 81 | 81 | 81 |
| Sex | Female | Female | Male | Female | Female | Female |
| Family history | − | − | − | − | − | − |
| Total disease duration | 10 months | 20 months | 21 months | 33 months | 101 months | 102 months |
| Initial symptoms | Slow reaction | Numbness, tremor | Right hemiparesis, motor aphasia, | Disorientation | Disorientation | Aphasia |
| Major symptoms and signs | Dementia, gait disturbance | Dementia | Dementia, tremor | Dementia, abnormal behavior | 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) | − | + (5 months) | + (9 months) | + (16 months) | + (20 months) | + (22 months) |
| Cause of death | Respiratory failure | Respiratory failure | Pneumonia | Respiratory failure | Respiratory failure | Respiratory failure |
| MRI study | ||||||
| MRI study | + (1 months after the onset) | + (4 months after the onset) | + (10 months after the onset) | + (8 months after the onset) | N.E. | + (42 months after the onset) |
| Swelling of the cerebral cortex (T2-weighted image) | + | + | + | + | N.E. | + |
| DWI hyperintensity (Observed region) | + (cerebral cortex, basal ganglia) | + (cerebral cortex, basal ganglia) | N.E. | + (cerebral cortex, basal ganglia) | N.E. | + (cerebral cortex) |
| Cerebral white matter lesion | − | − | − | + | N.E. | − |
| CSF study | ||||||
| NSE (ng/mL) | N.E. | N.E. | 29.9 | 25 | N.E. | 17.8 |
| 14-3-3 protein (μg/mL) | N.E. | 697 | N.E. | 1435 | N.E. | 3423 |
| Total tau (pg/mL) | N.E. | > 1200 | N.E. | 1370 | N.E. | 5474 |
| EEG study | ||||||
| PSWC | − | − | − | − | − | − |
| Slowing | + | + | + | + | + | + |
| PrP gene analysis | ||||||
| Codon 129 polymorphism | Met/Met | Met/Met | Met/Val | Met/Met | Met/Met | Met/Met |
| Codon 219 polymorphism | Glu/Glu | Glu/Glu | Glu/Glu | Glu/Glu | Glu/Glu | Glu/Glu |
| Pathological findings | ||||||
| Brain weight (g) | 1050 | 1150 | 1060 | 750 | 600 | 720 |
| Spongiform degeneration | Widely | Widely | Widely | Widely | Widely | Widely |
| in the cerebral cortex | observed | observed | observed | observed | observed | observed |
| PrP immunostaining | Very weak and synaptic | Very weak and synaptic | Very weak and synaptic | Very weak and synaptic | Very weak and synaptic | Very weak and synaptic |
| Neurofibrillary tangles | Braak stage II | Braak stage I | Braak stage II | Braak Stage II | Braak stage II | Braak stage IV |
| Senile plaques | CERAD stage C | CERAD stage B | CERAD stage 0 | CERAD stage 0 | CERAD stage 0 | CERAD stage A |
| Western blot analysis of PrP | Characteristic pattern | Characteristic pattern | Characteristic pattern | Characteristic pattern | Characteristic pattern | Characteristic pattern |
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; CSF, cerebrospinal fluid; MRI, magnetic resonance imaging; PrP, prion protein; CERAD, Consortium to Establish a Registry for Alzheimer's disease