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Cerebrotendinous xanthomatosis

Amy T Waldman, MD
Alan K Percy, MD
Section Editors
Francisco Gonzalez-Scarano, MD
Marc C Patterson, MD, FRACP
Deputy Editor
John F Dashe, MD, PhD


Cerebrotendinous xanthomatosis (CTX; MIM 213700) is an autosomal recessive lipid storage disease caused by disruption of bile acid synthesis that was first described in 1937 [1]. A deficiency of the enzyme sterol 27-hydroxylase causes the accumulation of cholesterol and cholestanol in virtually all tissues [2]. Fat deposition leads to the formation of xanthomas, nodules, and plaques in the central nervous system, tendons, skin, lungs, and bones.

CTX is one of a group of neurologic disorders, collectively referred to as leukodystrophies, which predominantly affect the central nervous system white matter. These disorders are caused by defects in the synthesis or maintenance of the myelin sheath that insulates the nerves.

The main neurologic features of CTX are cerebellar ataxia, pyramidal tract signs, and intellectual decline. One or more of these is usually apparent by late childhood or early adulthood. The syndrome is slowly progressive, and while there is no cure, its course can be altered with treatment.

This topic will review the pathogenesis, clinical features, diagnosis, and treatment of CTX.


The pathogenesis of cerebrotendinous xanthomatosis (CTX) involves a genetic defect in the CYP27A1 gene that causes derangements of lipid metabolism.


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Literature review current through: Sep 2016. | This topic last updated: Feb 20, 2015.
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