Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare recessive inherited lipid storage disease that was first described by Van Bogaert. Although the principal clinical presentation affects the nervous system with dementia, spinal cord paresis, cerebellar ataxia and peripheral neuropathy, the liver is is the organ where the major biochemical abnormalities are expressed. The following sections deal with the pathogenesis and treatment of the biochemical problems in CTX.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
-
Review
MeSH terms
-
Bile Acids and Salts / biosynthesis
-
Bile Acids and Salts / deficiency*
-
Brain / metabolism
-
Brain Diseases, Metabolic / diagnosis
-
Brain Diseases, Metabolic / drug therapy
-
Brain Diseases, Metabolic / genetics
-
Brain Diseases, Metabolic / metabolism*
-
Brain Diseases, Metabolic / pathology
-
Chenodeoxycholic Acid / therapeutic use
-
Cholestanol / metabolism*
-
Cholesterol / biosynthesis
-
Genes, Recessive
-
Humans
-
Lipid Metabolism, Inborn Errors / diagnosis
-
Lipid Metabolism, Inborn Errors / drug therapy
-
Lipid Metabolism, Inborn Errors / genetics
-
Lipid Metabolism, Inborn Errors / metabolism*
-
Lipid Metabolism, Inborn Errors / pathology
-
Liver / metabolism
-
Liver / pathology
-
Tendons / pathology*
-
Xanthomatosis / diagnosis
-
Xanthomatosis / drug therapy
-
Xanthomatosis / genetics
-
Xanthomatosis / metabolism*
-
Xanthomatosis / pathology
Substances
-
Bile Acids and Salts
-
Chenodeoxycholic Acid
-
Cholestanol
-
Cholesterol