Cerebrotendineous xanthomatosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis, with one fewer ‘e’, or Van Bogaert-Scherer-Epstein syndrome, or cerebrotendinous cholesterosis) is a form of xanthomatosis associated with the CYP27A1 gene on chromosome 2.

An inherited disorder associated with the deposition of a form of cholesterol in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, and tendineous or tuberous xanthomas.

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