Hereditary motor and sensory neuropathy with optic atrophy. Ultrastructural and morphometric observations on nerve fibers, mitochondria, and dense-cored vesicles.
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.
Institute of Neuropathology, Hospitals of the Rheinisch Westfälische Technische Hochschule Aachen, West Germany.
C
C
Sommer
J M
JM
Schröder
D000293:Adolescent; D000328:Adult; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D015417:Hereditary Sensory and Motor Neuropathy / Q000473:pathology*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008928:Mitochondria / Q000648:ultrastructure*; D009186:Myelin Sheath / Q000648:ultrastructure; D009412:Nerve Fibers / Q000648:ultrastructure*; D009896:Optic Atrophy / Q000473:pathology*; D015388:Organelles / Q000648:ultrastructure; D012583:Schwann Cells / Q000648:ultrastructure; D013127:Spinal Nerves / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology*