(or cerebrotendinous xanthomatosis
, with one fewer 'e', or cerebrotendinous cholesterosis
) is a form of xanthomatosis
It is autosomal recessive, and 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
It is also known as "Van Bogaert-Scherer-Epstein syndrome".