title: [Lipid metabolism disorder in ataxia-telangiectasia].
abstract: A clinico-morphological study of ataxia-teleangiectasia permits to establish the depth and distribution of lesions. Morphological findings indicate to lesions mainly in the extrapyramidal system, cerebellum, subcortical structures and in the stem structures and spinal cord. Besides, there were changes in the hemispheres in the form of cell atrophy, demyelinization, degeneration and gliosis. Demyelinization was found in the posterior and lateral columns of the spinal cord; in the extrapyramidal conductive paths. A study of lipid metabolism in 14 patients with ataxia-teleangiectasia also demonstrated an increase of lipid content in myelin, free cholesterol, etherconnected cholesterol, triglycerides and diglycerides in the plasma. There was  a correlation between the degree of the nervous system demyelinization and an increased level of the main fractions in the lipid spectrum. In some patients following a transplantation of a neonatal thymus-sternum complex there was a drop in the previously increased content of the lipid fractions. The authors discuss some problems of the pathogenesis of ataxiateleangiectasia.
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D050356:Lipid Metabolism; D008055:Lipids / Q000097:blood / Q000134:cerebrospinal fluid
chemical_list: D008055:Lipids
vernacular_title: Narushenie obmena lipidov pri ataksii-teleangiéktazii