TABLE 1.
Clinical characteristics of the cases of V180I Creutzfeldt-Jakob disease receiving gastrostomy.
| Case 1 | Case 2 | Case 3 | |
|---|---|---|---|
| Clinical features | |||
| Age at onset | 78 | 76 | 69 |
| Age at death | 81 | Alive | Alive |
| Sex | Female | Female | Female |
| Family history | − | − | − |
| Past history (age) | Cerebral infarction (73) Pituitary gland adenoma operation (65) | N. P. | Femoral neck fracture operation (50) |
| Comorbidity at clinical onset | Hypertension, Hyperlipidemia | N. P. | N. P. |
| Initial symptom | Disorientation | Abnormal behavior | Speech disturbance |
| Major symptoms and signs | Dementia, abnormal behavior | Dementia, disorientation | Dementia, disorientation |
| Cerebral cortical dysfunction | + | + | + |
| Visual symptoms | − | − | − |
| Parkinsonism | + | + | + |
| Cerebellar symptoms | − | − | − |
| Myoclonus | + | + | + |
| Startle reaction | + | + | + |
| Pathological laughing | + | + | + |
| MRI study | |||
| T2 cortical swelling | + | + | + |
| DWI hyperintensity | + | + | + |
| EEG study | |||
| PSWCs | − | − | − |
| Slowing | + | + | + |
| Akinetic mutism (Onset, months after admission) | 16 months | 17 months | 13 months |
| Complications before gastrostomy* | N. P. | once aspiration pneumonia, twice sepsis | twice aspiration pneumonia |
| Disease duration until gastrostomy | 30 months | 38 months | 14 months |
| Post-operative complications and treatment (Total episodes; total duration) | Bronchitis; Transluminal administration of antibiotic (2; 14 days) No episode of the intravenous administration | Bronchitis, folliculitis, and phlegmon; Transluminal (13; 127 days) and intravenous (1; 5 days) administrations of antibiotic | Bronchitis and phlegmon; Transluminal administrations of antibiotic (6; 65 days) |
| Episodes of tube feeding discontinuation | None Tube feeding was continued until death | None | None |
| Cause of death | Respiratory failure | Alive | Alive |
| Total disease duration | 33 months | > 77 months | > 49 months |
| PrP gene analysis | |||
| Codon 129 polymorphism | Met/Met | Met/Met | Met/Met |
| Codon 219 polymorphism | Glu/Glu | Glu/Glu | Glu/Glu |
+, present; —, absent; MRI, magnetic resonance imaging; DWI, diffusion-weighted imaging; EEG, electroencephalogram; PSWCs, periodic sharp-wave complexes; PrP, prion protein, Met, methionine; Glu, glutamic acid.
N. P., not present, PrP, prion protein. *Duration between onset of akinetic mutism and gastrostomy