Synaptophysin expression in the anterior horn of Werdnig-Hoffmann disease

This report concerns the study of synaptophysin (SP) expression in the anterior horn in four cases of Werdnig-Hoffmann disease (WHD). All patients had distinct anterior hom cell degeneration, and died before the age of one year. Normal spinal cords from five age-matched children served as controls. Five cases of sporadic amyotrophic lateral sclerosis (S-ALS), three cases of lower motor neuron disease (L-MND), three cases of peripheral neuropathy with axonal reaction, and six adult cases with normal spinal cords were included for comparison. Immunohistochemical techniques were used throughout. The results show that normal spinal cords of children have similar SP immunoreactivity patterns as those of normal adults. We also found that despite relatively preserved or slightly increased SP immunoreactivity on the surface of the cell body and proximal processes of the remaining neurons, there was a diffuse decrease of immunoreaction product deposits in the anterior horn neuropil of the WHD cases. The ballooned neurons in the anterior horns of patients with WHD, S-ALS, L-MND, and axonal reaction had few SP immunoreactive dots or granules around the cell bodies and proximal processes. The perikarya of some ballooned neurons of the children with WHD was diffusely stained for SP. There was no SP immunoreactive structures within the empty cell beds of these patients. The observed decrease in SP expression around ballooned neurons in these disorders is indicative of a disconnection of presynaptic terminals of afferent fibers from the proximal portion of the swollen degenerated anterior horn cells.