Minimal pathologic expression of a mutant gene for hereditary motor and sensory neuropathy.

Transverse sections of the sural nerve of a 46-year-old woman without neuropathic symptoms or abnormalities on nerve conduction, electromyography, or computer-assisted sensory examination contained minute regions with large onion bulbs intermingled with normal-appearing myelinated fibers and surrounded by fields of normal myelinated fibers. This woman's 19-year-old daughter had long-standing hypertrophic neuropathy with diffusely distributed large onion bulbs. Computer-imaging reconstruction of myelinated fibers and teased myelinated fiber studies of fascicles containing focal regions with onion bulbs of the mother's nerve provided evidence that onion bulbs surrounded atrophic axons with short internodes and demyelination. This is the least expression for inherited neuropathy which has been reported. These findings therefore suggest that an inherited neuropathy may be minimally expressed by a pathologic alteration of only selected neurons (axons).