Table 1.
Clinical course of patients with V180I genetic Creutzfeldt-Jakob disease except for patients with V180I/M232R combined mutation.
| Case No. | Author (y) | Onset of Age (yrs) | sex | Polymorphism at the codon 129 in the PRNP gene | Oral intake or Tube-feeding (Duration between onset and starting tube-fed) (m) | Duration of oral intake after onset (m) | Duration between onset and akinetic mutism (m) | Duration of oral intake after deteriorating akinetic mutism (m) | Cause of death (Duration between onset and death) (m) | MRI findings | Autopsy finding of brainstem | Evaluation of brainstem function | Evaluation of swallowing function |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Iwasaki (2019) [14] | 87 | F | M/M | Oral intake | 22 | 18 | 4 | Alive | Cerebral hyperintensity Brainstem preserved |
- | N.D. | N.D. |
| 2 | Iwasaki (2018) [15] | 86 | F | M/M | Oral intake | 10 | - | N.D. | General weakness (10) | Cerebral hyperintensity | No apparent atrophy | N.D. | N.D. |
| 3 | Iwasaki (2017) [16] | 78 | F | M/M | Gastrostomy (30) | 30 | 16 | 14 | Respiratory failure (33) | Cerebral hyperintensity | N.D. | N.D. | N.D. |
| 4 | Iwasaki (2017) [16] | 76 | F | M/M | Gastrostomy (38) |
34 | 17 | 17 | Alive >77 months |
Cerebral hyperintensity | - | N.D. | N.D. |
| 5 | Iwasaki (2017) [16] | 69 | F | M/M | Gastrostomy (14) |
14 | 13 | 1 | Alive >49 months |
Cerebral hyperintensity | - | N.D. | N.D. |
| 6 | Hayashi (2016, 2020) [6,8] | 78 | F | M/M | Tube-fed (47) | 14 | 14 | 0 | Pneumonia (61) |
Cerebral hyperintensity Cerebral atrophy Brainstem preserved |
No apparent atrophy | N.D. | N.D. |
| 7 | Hayashi (2016) [8] | 74 | F | M/V | Tube-fed (20) | 20 | 20 | 0 | Alive | Cerebral hyperintensity Cerebral atrophy Brainstem preserved |
- | N.D. | N.D. |
| 8 | Deguchi (2012) [17] | 79 | F | N.D. | Oral intake | 60 | 18 | 42 | Alive | Cerebral hyperintensity Cerebral atrophy Brainstem preserved |
- | N.D. | N.D. |
| 9 | Iwasaki (2011) [12] | 73 | F | M/M | Tube-fed | 22 | 22 | 0 | Respiratory failure (102) | Cerebral hyperintensity Cerebral atrophy Brainstem preserved |
No apparent atrophy | N.D. | N.D. |
| 10 | Current patient | 69 | F | M/M | Gastrostomy (42) | 83 | 12 | 71 | Alive | Cerebral hyperintensity Cerebral atrophy Brainstem preserved |
- | VE | VE, VF |
| AVG ± SD (range) | 77.0 ± 5.8 (69–87) |
F (10/10) | 29.3 ± 13.6 (14–47) (n = 6) |
30.9 ± 23.2 (10–83) (n = 10) |
16.6 ± 3.3 (12–22) (n = 9) |
16.6 ± 24.6 (0–71) (n = 9) |
y: year, FILS: Food Intake LEVEL Scale, F: female, N.D.: not described, VE: videoendoscopic examination of swallowing, VF: videofluoroscopic examination of swallowing, AVG: average, SD: standard deviation