Introduction
Materials and methods
Case material
Clinical phenotyping
Neuropathological methods
Quantitative analysis of tau load
Cell loss in substantia nigra
Secondary pathologies
Subgroup quantitative analysis
Cellular lesion types
Neuronal loss
Genetic analysis
Statistical analysis
Results
Overview
Disease groups | Number of cases | Gender (F:M) | Mean age at onset (years ± SD) | Mean age at death (years ± SD) | Mean disease duration (years ± SD) |
---|---|---|---|---|---|
Preclinical CBD | 4 | 2:2 | NA | 76.5 ± 10.7 | NA |
RP-CBD | 6 | 0:6 | 70.0 ± 12.0 | 72.3 ± 12.7 | 2.5 ± 0.9 |
Int-CBD | 4 | 1:3 | 78.5 ± 3.3 | 81.5 ± 3.0 | 3.0 ± 1.8 |
ES-CBD | 110 | 45:65 | 63.9 ± 7.5 | 70.6 ± 7.8 | 6.7 ± 2.3 |
Rapidly progressive CBD (RP-CBD)
Case no | Clinical phenotype | Gender | Age at onset (years) | Age at death (years) | Duration (years) | Antemortem clinical diagnosis of prion disease | Causes of death |
---|---|---|---|---|---|---|---|
RP-Case 1 | CBS | Male | 80 | 83 | 3 | No | Bronchopneumonia |
RP-case 2 | RS | Male | 56 | 59 | 2.6 | Yes | Cardiorespiratory failure |
RP-case 3 | GCD | Male | 71 | 73 | 2 | No | Bronchopneumonia |
RP-case 4 | GCD | Male | 57 | 57 | 0.7 | Yes | Respiratory insufficiency |
RP-case 5 | CBS | Male | 70 | 73 | 3 | No | Cardiorespiratory failure |
RP-case 6 | RS | Male | 86 | 89 | 3 | Yes | Cardiorespiratory failure |
Case illustration (RP-case 2)
Quantitative analysis of tau load
Total, cortical and basal ganglia tau load
Regional tau load
Cell loss in substantia nigra
Secondary pathologies
Case no | Hippo-campal sclerosis | Grains* | TDP-43** | CAA*** | Thal phase**** | Braak and braak NFT Stage | ABC score (level of AD change)# | MAPT H1/H2 haplotype | Known pathogenic MAPT mutations | APOE allele |
---|---|---|---|---|---|---|---|---|---|---|
RP-case 1 | No | 2 | 0 | 1 | 2 | II | A1, B1, C1 (low) | H1/H2 | Nil | E3/E3 |
RP-case 2 | No | 0 | 0 | 0 | 0 | I | A0, B1, C0 (not) | H1/H1 | Nil | E3/E3 |
RP-case 3 | No | 1 | 1 (P) | 0 | 2 | 0 | A1, B0, C2 (low) | H1/H1 | Nil | E3/E3 |
RP-case 4 | No | 1 | 0 | 0 | 0 | II | A0, B1, C0 (not) | H1/H1 | Nil | E3/E3 |
RP-case 5 | Yes | 0 | 1 (H, A) | 0 | 0 | III | A0, B2, C0 (not) | H1/H1 | Nil | E3/E4 |
RP-case 6 | No | 0 | 1 (H, A) | 3 | 5 | IV | A3, B2, C3 (intermediate) | H1/H1 | Nil | E3/E3 |