Peripheral nerve involvement in familial chorea-acanthocytosis

Myelinated fibers and neuronal cell bodies of the ventral spinal outflow and primary sensory neurons were histopathologically examined in a patient with familial chorea-acanthocytosis and age-matched controls. The patient exhibited a marked loss of large myelinated axons and their neuronal cell bodies in the ventral spinal outflow, while there was frequent occurrence of axonal sprouts. Large myelinated fibers in sensory afferents were also decreased in number. Segmental de- and remyelination was markedly increased in teased fiber preparations of both motor and sensory peripheral nerves.