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) |