Fig. 4

Quantitative comparison of spinal cord lower motor neurons (LMN) and different types of neuronal cytoplasmic inclusions (NCI) in LMN in ALS cases with TIA1 mutations, the C9orf72 mutation (C9) and sporadic ALS (sALS). Quantitation in a-c was performed on HE stained sections; whereas d–f was based on TDP-43 immunohistochemistry. There was no difference in the number of spinal cord LMN among groups (a). Round NCI (b) and Lewy body like inclusions (c) were significantly more frequent in TIA1 mutation carriers than in either C9 or sALS cases. In c, the red circle denotes the data point corresponding to the case with only a single section of upper cervical cord available for evaluation. No differences were seen among groups in the number of granular (d) or filamentous (e) TDP-43 NCI; however, round compact NCI were more frequent in TIA1 mutation carriers (f). (** = p < 0.005, * = p < 0.05 compared to C9 and sALS groups, respectively)