Table 2 Semiquantitative analysis of neurodegeneration and TDP-ir pathology in TIA1 mutation carriers
From: Clinical and neuropathological features of ALS/FTD with TIA1 mutations
| Â | Neurodegeneration | TDP-43 Immunohistochemistry | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
NWU-1 | TOR-1 | UBCU2-14 | UBCU2-1 | ALS752-1 | NWU-1 | TOR-1 | UBCU2-14 | UBCU2-1 | ALS752-1 | ||
FTD, ALS | FTD, prob. ALS | FTD, prob. ALS | ALS, early FTD | ALS | FTD, ALS | FTD, prob. ALS | FTD, prob. ALS | ALS, early FTD | ALS | ||
pyramidal motor system | motor cortex | + | + | + | ++ | + | + | ++ | + | + | +++ |
CN XII | +++ | ++ | +++ | ++ | +++ | ++ | +++ | ++ | ++ | ++ | |
CST | ++ | + | +++ | ++ | ++ | n/a | n/a | n/a | n/a | n/a | |
ant. horn | ++ | ++ | +++ | +++ | +++ | ++ | ++ | +++ | +++ | +++ | |
neocortex | prefrontal | ++ | + | +++ | ++ | – | +++ | +++ | +++ | +++ | ++ |
temporal | + | + | ++ | + | – | ++ | ++ | ++ | ++ | ++ | |
parietal | – | – | ++ | + | – | +++ | ++ | ++ | ++ | + | |
striatonigral system | caudate | + | – | ++ | + | – | + | ++ | +++ | +++ | +++ |
putamen | – | – | – | – | – | + | + | ++ | +++ | + | |
GP | – | – | – | – | – | + | + | + | + | + | |
SN | +++ | + | +++ | ++ | ++ | ++ | ++ | +++ | +++ | ++ | |
limbic system | hip. CA | – | – | – | – | – | + | + | + | + | + |
hip. dentate | ++ | + | – | – | – | ++ | +++ | ++ | ++ | ++ | |
thalamus |  | + | – | – | – | – | + | – | + | – | + |
midbrain | PAG | + | – | ++ | + | – | + | + | ++ | + | + |
cerebello-pontine system | cb cortex | – | – | – | – | – | – | – | – | – | – |
cb dentate | + | – | – | – | – | – | – | – | – | – | |
basis pontis | – | – | – | – | – | + | – | + | – | + | |