Table 1.
Pathologically confirmed MM2 cortical-type sporadic Creutzfeldt-Jakob disease and ocular disease.
| Case number | Author | Pathological type of CJD | Age of onset (y) | Age of death (y) | Sex | Disease duration (mo.) | Clinical diagnosis for prion disease after the onset (mo.) | Initial symptoms | Cortical hyperintensities in the initial DW-MRI | Initial DW-MRI perfoemd after the onset (mo.) | Duration between the diagnosis and the initial DW-MRI (mo.) | Ocular disease accompaniment | Initial diagnosis or diagnosis before prion disease |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Hamaguchi13) | MM2C | 65 | Alive (diagnosis confirmed by brain biopsy) | F | >13 | 7 | Dementia | + | 7 | 0 | N.D. | CJD |
| 2 | Hamaguchi13) | MM2C | 75 | Alive (diagnosis confirmed by brain biopsy) | F | >28 | 16 | Dementia | + | 16 | 0 | N.D. | CJD |
| 3 | Hamaguchi13) | MM2C+T | 65 | N.D. | M | 14 | 4 | Fall | + | 4 | 0 | N.D | CJD |
| 4 | Nozaki14) | MM2C | 65 | N.D. | F | 20 | 7 | Blurred vision | + | 7 | 0 | N.D. | CJD |
| 5 | Niimi15), Akagi16) | MM2C | 67 | 68 | M | 5 | 2 | Dementia | + | 2 | 0 | N.D. | CJD |
| 6 | Saito17) | MM2C+T | 59 | 62 | M | 32 | 24 | Visual disturbance, depression | + | 24 | 0 | N.D | Depression, SCD |
| 7 | Fernández-Vega18) | MM2C+T | N.D. | 80 | M | 27 | 24 | Dementia | + | 24 | 0 | N.D. | AD-like dementia |
| 8 | Sherstha19) | MM2C | 42 | N.D. | F | 30 | 9 | Dementia | + | 3 | 6 | N.D. | autoimmune encephalopathy suspected |
| 9 | Akagi16) | MM2C | 68 | 68 | M | 5 | 5 | Dementia | + | 5 | 0 | N.D | CJD |
| 10 | Baiardi20) | MM2C+1 | 70 | N.D. | F | 26 | N.D. | Visual disturbance, campimetric deficit | N.E. | N.E. | N.E. | N.D. | N.D. |
| 11 | Baiardi20) | MM2C+1 | 54 | N.D. | M | 44 | 12 | Visual hallucinations, environmental agnosia, dyscalulia | + | 12 | 0 | N.D. | CJD |
| 12 | Baiardi20) | MM2C | 48 | N.D. | M | 6 | 2.5 | Visual disturbance | + | 2.5 | 0 | N.D. | CJD |
| 10 | Attaripour Isfahani21) | MM2C | 49 | N.D. | M | 8 | 1 | Confusion, dementia | + | 1 | 0 | None | CJD |
| 14 | Present patient | MM2C | 83 | 85 | M | 30 | 15 | Visual disturbance | + | 15 | 0 | Graucoma and age-related macular degeneration | AD |
| AVG ± SD [range] | 62.3 ± 11.5 [42–83] | 20.6 ± 12.8 [5–44] | 9.9 ± 7.8 [1–24] | 9.4 ± 8.1 [1–24] | 0.5 ± 1.7 [0–6] |
MM2C: MM2 cortical-type of sporadic Creutzfeldt-Jakob disease, MM2C+T: MM2 cortical + thalamic-type sporadic Creutzfelldt-Jakob disease; MM2C+1: MM2 cortical (predominantly) + 1-type sporadic Creutzfeldt-Jakob disease; N.D.; not described; Creutzfeldt-Jakob disease;
DWI: diffusion-weighted MR imge, AD: Alzheimer’s disease; SCD: spinocerebellar degeneration; y: year-old; mo. Months; F: female; M: male; N.E.: not examined; AVG: average; SD: standard deviation.