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  Vol. 59 No. 4, April 2002 TABLE OF CONTENTS
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Cerebrotendinous Xanthomatosis

A Rare Disease With Diverse Manifestations

Mohammed H. Moghadasian, PhD; Gerald Salen, MD; Jiri J. Frohlich, MD; Charles H. Scudamore, MD

Arch Neurol. 2002;59:527-529.

This mini-review deals with a new appraisal of cerebrotendinous xanthomatosis. In addition to neurologic symptoms, patients with cerebrotendinous xanthomatosis develop cataracts, diarrhea, Achilles tendon xanthoma, atherosclerotic vascular disease, and many other abnormalities. Although the pathophysiology of the disease is not completely understood, excess production and consequent accumulation of cholestanol in tissues may play a crucial role. Chenodeoxycholic acid is the most effective therapy. The causative role and detrimental effects (at a low plasma level) of cholestanol merit further investigation.


From the Departments of Pathology and Laboratory Medicine (Drs Moghadasian and Frohlich) and Surgery (Dr Scudamore), University of British Columbia, Vancouver; and Departments of Medicine, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark (Dr Salen), and Veterans Affairs Medical Center, East Orange, NJ (Dr Salen).


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