Peripheral nerve involvement in Werdnig-Hoffmann disease

The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of larger myelinated fibers. The ultrastructural findings of the nerves were similar to those seen in Wallerian degeneration including axonal degeneration, myelin breakdown with phagocytosis, Schwann cell proliferation forming Schwann cell columns, axonal sprouting and probable remyelination. The earlier and more striking peripheral nerve involvement than that previously believed was not different from that seen in amyotrophic lateral sclerosis (ALS). The earlier damage to the peripheral nerves probably resulted from a degeneration of the anterior horn cells or anterior spinal roots as in ALS rather than from a dying-back process.