Spinal cord motor neurons of the two patients with p.E117G variants lack PFN1
inclusions (A, E). Temporal cortex for these two patients does not demonstrate
neuronal PFN1 inclusions either (C, G). Two patients without the p.E117G
variant, one of whom was diagnosed with ALS (I) and one with FTLD-TDP (K), who
were photographed as controls for this variant, display the same pattern as
patients with p.E117G variants in the spinal cord and temporal cortex,
respectively. For the two patients with p.E117G variants, TDP-43 staining is
shown both in the spinal cord (B, F) and temporal cortex (D, H): the ALS patient
demonstrates TDP-43 positive inclusions in the spinal cord (TDP-43 type 3, B),
whereas the FTLD-TDP patient shows TDP-43 positive inclusions in the temporal
cortex (TDP-43 type 2, H). TDP-43 positive inclusions are also present in the
spinal cord of the wild-type ALS patient (TDP-43 type 3, J), and in the temporal
cortex of the wild-type FTLD-TPD patient (TDP-43 type 1, L). Magnification:
40×.