Case of hereditary neuropathy with liability to pressure palsies presenting progressive muscular atrophy with lower motor neuron degeneration in the spinal cord and the brainstem

Abstract

We present a case of hereditary neuropathy with liability to pressure palsies developing progressive muscular atrophy, caused by the deletion of peripheral myelin protein-22. The patient had a history of episodic peripheral nerve palsies during adolescence, and later manifested progressive bulbar palsy and muscular atrophy in all extremities in his 70s. Peripheral myelin protein-22 is known to be expressed in Schwann cells, and its messenger ribonucleic acid is also expressed in lower motor neurons in the spinal cord and the brainstem. Therefore, the presented case suggests that the deletion of peripheral myelin protein-22 facilitated impairment of peripheral nerves and lower motor neurons with aging and/or genetic stress, which could contribute to the pathogenesis of progressive muscular atrophy.