MINIMAL PATHOLOGIC EXPRESSION OF A MUTANT-GENE FOR HEREDITARY MOTOR AND SENSORY NEUROPATHY

  • 1 January 1983
    • journal article
    • research article
    • Vol. 58  (7) , 419-425
Abstract
Transverse sections of the sural nerve of a 46-yr-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-yr-old daughter had long-standing hypertrophic neuropathy with diffusely distributed large onion bulbs. Computer-imaging reconstruction on 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 was reported. An inherited neuropathy may be minimally expressed by a pathologic alteration of only selected neurons (axons).

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