Table 2.
Demographics and pathologic features of FTLD-TDP type A and type B cases split by mutation
| Mutation | FTLD-TDP type A | FTLD-TDP type B | ||
|---|---|---|---|---|
| GRN + (n = 4) | GRN – (N = 4) | C9+ (n = 4) | C9 – (n = 4) | |
| Demographics | ||||
| Female Sex % | 1 (25%) | 0 | 3 (75%) | 2 (50%) |
| Age at death | 67 (60, 76) | 74 (61, 78) | 62 (55, 67) | 68 (60, 79) |
| Clinical diagnosis | ||||
| bvFTD | 2 (50%) | 1 (25%) | 2 (50%) | 1 (25%) |
| PPA | 1 (25%) | 0 | 0 | 0 |
| FTD-MND/ALS | 0 | 1 (25%) | 2 (50%) | 3 (75%) |
| Other | 1 (25%) | 2 (50%) | 0 | 0 |
| Co-pathologies | ||||
| Hippocampal sclerosis | 4 (100%) | 4 (100%) | 2 (50%) | 0 |
| Braak NFT stage | 1 (0.0, 2.0) | 1.0 (1.0, 1.5) | 2.0 (2.0, 3.0) | 1.5 (1.0, 3.0) |
| Thal Phases | 0.5 (0.0, 1.0) | 1.0 (0.0, 3.0) | 1.0 (0.0. 2.0) | 0.0 (0.0, 4.0) |
| Pathological results | ||||
| ERC/CA1/Sub | ||||
| Phosphorylated TDP-43 (pTDP-43) | 2.5 (2.0–3.0) | 1.5 (1.0, 3.0) | 3.0 (1.0, 3.0) | 2.0 (2.0, 3.0) |
| C-Terminal specie TDP-43 (cTDP-43) | 2.0 (1.0–3.0) | 1.0 (0.5–2.0) | 0.0 (0.0, 1.0) | 1.0 (0.0, 3.0) |
| Full length TDP-43 (nTDP-43) | 1.0 (1.0, 1.0) | 1.0 (0.5, 2.0) | 1.5 (0.0, 2.0) | 2.0 (1.0, 3.0) |
| Dentate nucleus of hippo | ||||
| Phosphorylated TDP-43 (pTDP-43) | 2.5 (2.0, 3.0) | 2.0 (1.0, 3.0) | 3.0 (2.0, 3.0) | 3.0 (2.0, 4.0) |
| C-Terminal specie TDP-43 (cTDP-43) | 2.0 (1.0, 3.0) | 1.5 (1.0, 2.0) | 2.0 (1.0, 3.0) | 2.0 (1.0, 4.0) |
| Full length TDP-43 (nTDP-43) | 1.0 (0.0, 1.0) | 0.75 (0.0, 1.0) | 2.0 (0.0, 3.0) | 1.0 (1.0, 4.0) |
Data shown as median (range) and percentages
bvFTD Behavioral variant frontotemporal dementia, FTD-MND/ALS Frontotemporal dementia with motor neuron disease/amyotrophic lateral sclerosis, PPA Primary progressive aphasia, GRN progranulin, C9 C9ORF72, NFT neurofibrillary tangle