Figure 3

Photographs and photomicrographs of general pathology and neuropathology of the ALS patient with the VCP mutation. (a,b) In this muscle specimen from the right quadriceps muscle, large-group atrophy indicating neurogenic changes is demonstrated, whereas no evidence of IBM is observed (a). The muscle nuclei are normally immunopositive with the anti-TDP-43 antibody (b, arrows), but abnormal inclusions are not detected. (c) H&E staining of a vertebra demonstrates irregular broad trabeculae with disorganized cement lines appearing in a mosaic pattern. (d,e) Macroscopically, the brain shows no apparent atrophy. (f) A KB-stained lumbar spinal cord reveals degeneration of the corticospinal tract (f, arrow). (g) A section of cervical cord stained by H&E shows neuronal loss with gliosis in the anterior horn. (h) Typical Bunina bodies (arrow) are evident in the cytoplasm of this cervical AHC. Scale bars = 250 μm (a), 200 μm (b), 50 μm (c), 1 mm (f), 100 μm (g), and 12.5 μm (h).