Biochemical abnormalities in cerebrotendinous xanthomatosis

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.