| cerebrotendinous cholesterinosis | A disorder with deposition of cholestanol in the brain and other tissues and high levels in plasma but with normal cholesterol level; characterised by progressive cerebellar ataxia beginning after puberty, juvenile cataracts, spinal cord involvement, and tendinous or tuberous xanthomata; autosomal recessive inheritance. Probably due to a defect in hepatic mitochondrial 26-hydroxylase in bile acid biosynthesis. Synonym: cerebrotendinous cholesterinosis. (05 Mar 2000) |
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| cholesterinosis | Synonym: cholesterolosis. (05 Mar 2000) |
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| cerebrotendinous xanthomatosis | A disorder with deposition of cholestanol in the brain and other tissues and high levels in plasma but with normal cholesterol level; characterised by progressive cerebellar ataxia beginning after puberty, juvenile cataracts, spinal cord involvement, and tendinous or tuberous xanthomata; autosomal recessive inheritance. Probably due to a defect in hepatic mitochondrial 26-hydroxylase in bile acid biosynthesis. Synonym: cerebrotendinous cholesterinosis. (05 Mar 2000) |
| xanthomatosis, cerebrotendinous | A lipid storage disease, inherited as an autosomal recessive trait, characterised by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol. (12 Dec 1998) |