LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME
The literature data about the association between low levels of lipids (gipoholesterinemia) with the occurrence of neurological disorders in children and adolescents at the present time remains controversial. A sharp decrease of the cholesterol, phospholipids, triglycerides, chylomicrons and apob le...
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| Format: | Article |
| Language: | Russian |
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Siberian Branch of Russian Academy of Sciences, Research Institute of Internal and Preventive Medicine, branch of the Institute of Cytology and Genetics
2016-12-01
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| Series: | Атеросклероз |
| Subjects: | |
| Online Access: | https://ateroskleroz.elpub.ru/jour/article/view/32/32 |
| _version_ | 1797965620084473856 |
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| author | A. V. Sukhanov |
| author_facet | A. V. Sukhanov |
| author_sort | A. V. Sukhanov |
| collection | DOAJ |
| description | The literature data about the association between low levels of lipids (gipoholesterinemia) with the occurrence of neurological disorders in children and adolescents at the present time remains controversial. A sharp decrease of the cholesterol, phospholipids, triglycerides, chylomicrons and apob levels or their absence leads to the development of abetalipoproteinemia (Bassen-Kornzweig syndrome). The key clinical symptoms of abetalipoproteinemia are psychomotor retardation, progressive cerebellar ataxia, pigment degeneration of the retina, peripheral neuropathy, as well as gross changes in the skeleton (severe scoliosis and pes cavus). Key laboratory signs - changes in the lipid spectrum (a sharp decrease of the blood levels of apob, total cholesterol, phospholipids, triglycerides, chylomicrons) and acanthocytes in the blood smear. The treatment is based on the replacement of fat-soluble vitamins and symptomatic therapy. |
| first_indexed | 2024-04-11T02:02:52Z |
| format | Article |
| id | doaj.art-61f0bd485e7e4afea2640ab9edd7183e |
| institution | Directory Open Access Journal |
| issn | 2078-256X |
| language | Russian |
| last_indexed | 2024-04-11T02:02:52Z |
| publishDate | 2016-12-01 |
| publisher | Siberian Branch of Russian Academy of Sciences, Research Institute of Internal and Preventive Medicine, branch of the Institute of Cytology and Genetics |
| record_format | Article |
| series | Атеросклероз |
| spelling | doaj.art-61f0bd485e7e4afea2640ab9edd7183e2023-01-03T03:39:08ZrusSiberian Branch of Russian Academy of Sciences, Research Institute of Internal and Preventive Medicine, branch of the Institute of Cytology and GeneticsАтеросклероз2078-256X2016-12-011247984LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROMEA. V. Sukhanov0Research Institute of Therapy and Preventive Medicine Russian FederationThe literature data about the association between low levels of lipids (gipoholesterinemia) with the occurrence of neurological disorders in children and adolescents at the present time remains controversial. A sharp decrease of the cholesterol, phospholipids, triglycerides, chylomicrons and apob levels or their absence leads to the development of abetalipoproteinemia (Bassen-Kornzweig syndrome). The key clinical symptoms of abetalipoproteinemia are psychomotor retardation, progressive cerebellar ataxia, pigment degeneration of the retina, peripheral neuropathy, as well as gross changes in the skeleton (severe scoliosis and pes cavus). Key laboratory signs - changes in the lipid spectrum (a sharp decrease of the blood levels of apob, total cholesterol, phospholipids, triglycerides, chylomicrons) and acanthocytes in the blood smear. The treatment is based on the replacement of fat-soluble vitamins and symptomatic therapy.https://ateroskleroz.elpub.ru/jour/article/view/32/32bassen-kornzweig syndromehypocholesterolemiaapolipoprotein bperipheral neuropathycerebellar ataxiaretinitis pigmentosa |
| spellingShingle | A. V. Sukhanov LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME Атеросклероз bassen-kornzweig syndrome hypocholesterolemia apolipoprotein b peripheral neuropathy cerebellar ataxia retinitis pigmentosa |
| title | LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME |
| title_full | LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME |
| title_fullStr | LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME |
| title_full_unstemmed | LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME |
| title_short | LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME |
| title_sort | lipoprotein metabolism disorders and hereditary neurological disease bassen kornzweig syndrome |
| topic | bassen-kornzweig syndrome hypocholesterolemia apolipoprotein b peripheral neuropathy cerebellar ataxia retinitis pigmentosa |
| url | https://ateroskleroz.elpub.ru/jour/article/view/32/32 |
| work_keys_str_mv | AT avsukhanov lipoproteinmetabolismdisordersandhereditaryneurologicaldiseasebassenkornzweigsyndrome |