描述
Cerebrotendinous Xanthomatosis is caused by mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase. This enzyme catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Cerebrotendinous Xanthomatosis is a rare, inherited lipid-storage disease with large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Symptoms include progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts.