FIGURE 2.

Neuropathology of a patient with Y374X mutation. Microscopic examination of the spinal cord reveals: Motor neuron loss (A) with Bunina bodies in occasional residual neurons (arrow, B, H&E); neuronal cytoplasmic inclusions (arrows) and pre‐inclusions (arrow heads) (C and D) on immunohistochemistry for total TDP‐43 (C) and phosphorylated TDP‐43 (D); a microglial reaction (anti‐CD68) in the anterior horns (E) and lateral columns (F), that is not seen in the dorsal columns (G). Examination of the motor cortex is essentially normal on H&E (H) with minimal microglial reaction on CD68 immunohistochemistry (K) and an absence of glial or neuronal cytoplasmic inclusions on immunohistochemistry for TDP‐43 (J) or p62 (I); bar = 100 μm throughout