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September 1989

Hereditary Motor and Sensory Neuropathy With Optic Atrophy: Ultrastructural and Morphometric Observations on Nerve Fibers, Mitochondria, and Dense-Cored Vesicles

Author Affiliations

From the Institute of Neuropathology, Hospitals of the Rheinisch Westfälische Technische Hochschule Aachen, Aachen, West Germany.

Arch Neurol. 1989;46(9):973-977. doi:10.1001/archneur.1989.00520450043017

• Nerve biopsy specimens from three cases of hereditary motor and sensory neuropathy with optic atrophy were studied by light and electron microscopy and by morphometry. All cases had a chronic neuropathy of the neuronal/axonal type with little, presumably secondary, demyelination. There was predominant reduction of the large-caliber population of myelinated and unmyelinated nerve fibers. The number of dense-cored vesicles in unmyelinated and small myelinated fibers was increased. Abnormal mitochondria in Schwann cells with paracrystalline inclusions, prominent cristae including paracrystalline material (cases 1 and 2), and axonal mitochondria with presumable hydroxyapatite crystals (case 3) were found. The morphologic results suggest that hereditary motor and sensory neuropathy with optic atrophy should be regarded as a separate entity within the hereditary motor and sensory neuropathy group.

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