Fig. 2.

Neuropathology observed in SQSTM1 mutation carriers. Immunostaining for phospho-TDP-43 in the temporal cortex (a, b) and in the granule cells of the dentate gyrus (c, d) in a patient with a SQSTM1 p.(Glu396*) mutation (a, c) and a second patient with a SQSTM1 p.Arg212Cys—C9orf72 double mutation (b, d). Notably, p62 immunoreactivity is less in the dentate gyrus (e, f) and lacking in the cerebellar granule cell layer (g, h) in the p.(Glu396*) case (e, g) as compared to the p.Arg212Cys patient with the additional C9orf72 repeat expansion mutation (f, h). Scale bar represents 25 µm for all