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cerebrotendinous xanthomatosis

   Also found in: Acronyms 0.22 sec.
cer·e·bro·ten·di·nous xanthomatosis (sr-br-tnd-ns, s-rbr-)
n.
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 tendinous or tuberous xanthomas.

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Patient 2--Cerebellar Dysfunction Due to Cerebrotendinous Xanthomatosis
The discovery came in a study of Cerebrotendinous Xanthomatosis, or CTX, a rare and often fatal disorder caused by excessive cholesterol metabolites.
 
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