Table 1.
Cases included in the present study
| Case | Age (years) | Gender | Neuropathological diagnosis | Mutation in PRNP or other gene | Codon 129 genotype | PrP type | Braak stage NFTa | Disease duration (months) | PMI (hours) | Cause of death |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 51 | F | Ctrl | - | - | - | - | - | <24 | Traffic accident |
| 2 | 66 | F | Ctrl | - | - | - | - | - | <48 | Haemorrhagic shock |
| 3 | 82 | F | Ctrl | - | - | - | - | - | NA | Myocardial infarct |
| 4 | 52 | M | Ctrl | - | - | - | - | - | <24 | Suicide |
| 5 | 70 | M | Ctrl | - | - | - | - | - | <48 | Asphyxia |
| 6 | 60 | F | Ctrl | - | - | - | - | - | 7.30 | Infection |
| 7 | 60 | F | Ctrl | - | - | - | - | - | 6.50 | Metastasized mamma carcinoma |
| 8 | 55 | M | Ctrl | - | - | - | - | - | 7.30 | Euthanasia with oesophageal carcinoma |
| 9 | 57 | F | Ctrl | - | - | - | - | - | 7.40 | Metastasized bladder carcinoma |
| 10 | 59 | M | GSS | 7-OPRI [59] | MV | 1 | NA | 7 | NA | Cerebral pathology |
| 11 | 57 | M | GSS | 7-OPRI [59] | VV | 1 | I | 65 | <48 | Cerebral pathology |
| 12 | 42 | F | GSS | 5-OPRI [60] | MM | 1/2 | 0 | 92 | <24 | Cerebral pathology |
| 13 | 52 | M | GSS | G131V [61] | MV | Not 1 or 2 | III | 192 | 5.45 | Cerebral pathology |
| 14 | 45 | F | GSS | Q227X [39] | MV | Not 1 or 2 | VI | 72 | <6 | Cerebral pathology |
| 15 | 57 | F | PrP-CAA | Y226X [39] and D178N | MV | NA | 0 | 27 | NA | Cerebral pathology |
| 16 | 36 | F | FFI | D178M | MM | 2 | NA | 48 | <24 | Cerebral pathology |
| 17 | 61 | M | FFI | D178N | MM | 2 | III | 7 | <48 | Cerebral pathology |
| 18 | 58 | M | FFI [62] | D178N | MM | 2 | NA | 6 | <24 | Cerebral pathology |
| 19 | 16 | M | vCJD | - | MM | 2 | 0 | 9 | <144 | Cerebral pathology |
| 20 | 26 | F | vCJD [63] | - | MM | 2 | 0 | 20 | <24 | Cerebral pathology |
| 21 | 49 | F | vCJD | - | MM | 2 | NA | 15 | <48 | Cerebral pathology |
| 22 | 54 | M | iCJD | - | MM | 1 | 0 | 4 | <72 | Cerebral pathology |
| 23 | 66 | M | iCJD | - | MV | 1 | NA | 9 | NA | Cerebral pathology |
| 24 | 58 | M | iCJD | - | MV | 1 | I | 4 | <24 | Cerebral pathology |
| 25 | 55 | F | sCJD | - | MV | 2 | 0-I | 16 | <120 | Cerebral pathology |
| 26 | 75 | F | sCJD | - | MM | 1/2 | III-IV | 12 | NA | Cerebral pathology |
| 27 | 64 | F | sCJD | - | MV | 2 | 0 | 8 | <144 | Cerebral pathology |
| 28 | 61 | F | sCJD | - | MV | 2 | 0 | 20 | NA | Cerebral pathology |
| 29 | 68 | F | sCJD | - | MV | 2 | 0 | 26 | <216 | Cerebral pathology |
| 30 | 59 | F | sCJD | - | MV | 2 | 0 | 22 | <216 | Cerebral pathology |
| 31 | 52 | F | sCJD | - | VV | 1 | I-II | 3 | <72 | Cerebral pathology |
| 32 | 60 | M | sCJD | - | VV | 2 | 0 | 6 | <48 | Cerebral pathology |
| 33 | 79 | F | sCJD | - | MV | 2 | III | 12 | <24 | Cerebral pathology |
| 34 | 50 | F | sCJD | - | MM/MV | 1/2 | 0 | 4 | <48 | Cerebral pathology |
| 35 | 68 | M | sCJD | - | MM/MV | 1 | 0 | 1 | <24 | Cerebral pathology |
| 36 | 81 | M | sCJD | - | MM/MV | 1 | I | 2 | <24 | Cerebral pathology |
| 37 | 62 | F | sCJD | - | MM/MV | 1/2 | I-II | 1 | <24 | Cerebral pathology |
| 38 | 62 | F | sCJD | - | VV | 2 | I-II | 4 | <20 | Cerebral pathology |
| 39 | 60 | F | sCJD | - | MV | 2 | I | 20 | <5 | Cerebral pathology |
| 40 | 62 | M | sCJD | - | MV | 2 | I-II | 16 | <24 | Cerebral pathology |
| 41 | 77 | F | sCJD | - | VV | 2 | II | 5 | <48 | Cerebral pathology |
| 42 | 81 | M | sCJD | - | MM | 2 | I-II | 36 | <24 | Cerebral pathology |
| 43 | 73 | F | sCJD | - | MV | 2 | I | 10 | <120 | Cerebral pathology |
| 44 | 70 | F | sCJD | - | VV | 2 | I-II | 6 | <24 | Cerebral pathology |
| 45 | 73 | F | sCJD | - | MM/MV | 1/2 | 0 | 2 | <24 | Cerebral pathology |
| 46 | 57 | F | sCJD | - | MM/MV | NA | I | 24 | <192 | Cerebral pathology |
| 47 | 52 | F | sCJD | - | MV | 2 | 0 | 7 | <24 | Cerebral pathology |
| 48 | 67 | F | sCJD | - | MM | 1/2 | 0 | 2 | <24 | Cerebral pathology |
| 49 | 82 | F | sCJD | - | MM | 1 | III | 2 | <96 | Cerebral pathology |
| 50 | 62 | M | sCJD | - | VV | 2 | 0 | 5 | <24 | Cerebral pathology |
| 51 | 83 | F | sCJD | - | MM | 1 | II | 2 | <24 | Cerebral pathology |
| 52 | 59 | F | sCJD | - | MV | 1/2 | I | 36 | <24 | Cerebral pathology |
| 53 | 76 | M | sCJD | - | MV | 2 | I | 4 | <24 | Cerebral pathology |
| 54 | 63 | F | sCJD (p.enceph.) [64] | - | MV | 2 | 0 | 36 | NA | Cerebral pathology |
| 55 | 64 | F | sCJD (p.enceph.) [64] | - | MM | 1 | 0 | 12 | <96 | Cerebral pathology |
| 56 | 47 | M | VPSPr [65] | - | VV | Not 1 or 2 | I | 20 | <120 | Cerebral pathology |
| 57 | 65 | F | Sporadic AD | - | - | - | VI | 48 | <24 | Cerebral pathology |
| 58 | 69 | M | Sporadic AD | - | - | - | V-VI | 48 | <48 | Cerebral pathology |
| 59 | 29 | F | Familial AD | S170F in PSEN1 | - | - | VI | 72 | <48 | Cerebral pathology |
| 60 | 83 | M | Sporadic AD (Hip) | - | - | - | III | 120 | <12 | Cerebral pathology |
| 61 | 84 | F | Sporadic AD (Hip) | - | - | - | VI | 84 | <12 | Cerebral pathology |
For this study the frontal lobe was used unless indicated otherwise
Abbreviations: M Male, F Female, Ctrl Control, GSS Gerstmann–Sträussler–Scheinker syndrome, PrP-CAA PrP-Cerebral amyloid angiopathy, FFI Fatal Familial Insomnia, vCJD Variant CJD, iCJD Iatrogenic CJD, sCJD Sporadic CJD, sCJD (p.enceph.) Sporadic CJD panencephalopathic subtype, VPSPr variably protease-sensitive prionopathy, AD Alzheimer’s disease, OPRI Octapeptide repeat insertion, M Methionine, V Valine, PMI Post-mortem interval, Hip Hippocampal sections used instead of frontal sections, NA Not available
aBraak stage for NFT was used to describe the severity of tau pathology. However, since in prion diseases tau pathology can also be secondary to PrPSc amyloidosis instead of Aβ amyloidosis, this staging does not represent real Braak and Braak classification, but rather an indication of the severity of tau pathology, described as if it were an AD patient. Additionally, tau and Aβ pathology in the frontal cortex were assessed by our own immunohistochemical stainings