| Present patient | Patient with p.D40G [6] | Patient with p.G38R [7] |
---|---|---|---|
Clinical features | |||
Age at onset (years) | 57 | 72 | 60’sa |
Disease duration (months) | 19 | 36 | naa |
Initial symptom | Limb | Bulbar | Limb |
Cognitive impairment or FTD | − | − | + |
Neuropathologic phenotype | ALS-TDP | ALS-TDP | ALS-TDP with FTLD-TDP type A |
Neuronal loss | |||
Motor cortex | + | na | + |
Lower motor neurons | + | + | na |
Frontotemporal cortex | − | na | + |
Degeneration of CST | + | + | + |
Bunina body | + | na | + |
pTDP-43-ir NCIs/GCIs | +/+ | +/na | +/+ |
Annexin A11-ir NCIs/GCIs | +/few | +/na | +/na |
Morphology of annexin A11-ir NCIs | Skein-like, filamentous, small round | Skein-like, filamentous, large-caliber and tube-shaped, large basket-like | Tube-shaped, large conglomerate, large round |
Co-localization of pTDP-43 and annexin A11 | − or + | − | − or + |