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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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