Chromatolytic neurons in Werdnig-Hoffmann disease contain phosphorylated neurofilaments

Two cases of Werdnig-Hoffman disease are described. Chromatolytic neurons were found within the ventral horns of the spinal cord as well as in dorsal root ganglia, Clarke's column, cranial nerve nuclei and thalamus. Immunohistochemical staining demonstrated phosphorylated neurofilament antigen within the cytoplasm of the chromatolytic neurons. This finding suggests that a defect in slow axonal transport or in the regulation of neurofilament phosphorylation may play a role in the pathogenesis of this disorder.