Patient | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 |
---|---|---|---|---|---|---|
Age at death | 77 | 55 | 81 | 74 | 62 | 80 |
Duration of illness | 12 | 12 | 2 | 7 | 9 | 7 |
Sex | F | F | M | F | M | F |
Codon 129 | MM | MM | MM | MV | NA | NA |
Symptoms | ||||||
Progressive dementia | + | + | + | + | + | + |
Ataxia (Gait or Limb) | + | + | + | + | + | + |
Parkinsonism | - | + | - | + | + | - |
Myoclonus | + | + | + | + | - | - |
Chorea | - | + | - | - | - | - |
Pyramidal signs | + | + | - | - | - | - |
Oculomotor disturbance | - | - | - | - | - | + |
Cortical blindness | - | - | + | - | - | - |
Clinical suspicion | CJD | CJD | CJD | CJD | DLB + ALC | WE/CJD |
WHO Criteria (CJD) | Prob | Poss | Prob | Prob | * | - |
Examinations | ||||||
CSF 14-3-3 | + | NA | + | + | NA | NA |
MRI | No | No | Yes | Yes | Yes | Yes |
CDI (PM) | Yes | Yes | NA | Yes | NA | NA |
WB (PM) | Yes | Yes | NA | Yes | NA | NA |
Neuropathology | ||||||
BB stage | 2 | 2 | 2 | 0 | 0 | 2 |
Thal Phase | No | 1 | 1 | No | No | 1 |
Lewy body (B Stage) | No | No | No | No | No | No |
phTDP-43 | No | No | No | No | No | CA1 syn |
Other | No | No | AG, MH | No | No | No |