Figure 4. Neuropathology of familial ALS.
Lewy body-like inclusion in a spinal motor neuron from a nervous system of a patient with an SOD1 A4V mutation (A). A subsequent histological section showing co-localization of misfolded SOD1 and the Lewy body-like inclusion (B). Misfolded SOD1 is not seen in spinal motor neurons of controls (C) or in the motor cortex of SOD1 patients (D). Skein-like inclusions (arrow) and dense round inclusions (arrow-head) in spinal motor neurons of lumbar spinal cord of a nervous system of a patient with repeat expanded C9orf72 using anti-TDP antibody (E). Same as (E), using an anti-phospho-TDP-43 antibody (F). Poly GA dipeptide repeat proteins in the hippocampus of a nervous system from a patient with a repeat expansion in C9orf72 (G) that are not seen in sporadic ALS (H). PolyGP dipeptide repeat proteins in the hipppcampus of a nervous system from a patient with repeat expansion in C9orf72 (I) are not seen in sporadic ALS (J). RNA foci from the sense (K) and antisense (L) directions from cultured fibroblasts of a patient with repeat expansion in C9orf72 using fluorescent in situ hybridization.