title: [Pathogenesis and pathomorphology of human leukodystrophies].
abstract: A review of foreign literature on the pathogenesis and pathomorphology of hereditary diseases of the human nervous system with the myelin involvement is presented. Five forms of leukodystrophies are mainly dealt with: (1) metachromatic, with the defect of their deposition in the form of a metachromatic substance; (2) globoid, with deficiency of galactoceramide beta-galactase enzyme catabolizing cerebrozides and with accumulation of the latter, particularly in the forming "globoid" cells; (3) sudanophilic, with sudanophilic degeneration of the myelin and obscure defect of the enzyme; (4) Pelizaeus-Merzbacher disease with insularly intact myelin; and (5) adrenoleukodystrophy with sudanophilic degeneration of the myelin and involvement of the adrenals. All the forms of leukodystrophies by the time of the onset of the disease are divided into prenatal, late infantile, juvenile, and adult.
mesh_terms: D000293:Adolescent; D000328:Adult; D002490:Central Nervous System / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000201:enzymology / Q000209:etiology / Q000473:pathology; D005333:Fetus / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D009186:Myelin Sheath / Q000378:metabolism; D010525:Peripheral Nerves / Q000378:metabolism; D013433:Sulfoglycosphingolipids / Q000378:metabolism
chemical_list: D013433:Sulfoglycosphingolipids
vernacular_title: Patogenez i patomorfologiia leĭkodistrofiĭ cheloveka.