title: Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations.
abstract: 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.
authors.affiliation: Healthy Heart Program, St Paul's Hospital, Suite 180, 1081 Burrard St, Vancouver, British Columbia, Canada V6Z 1Y6. mhmoghad@interchange.ubc.ca
authors.forename: Mohammed H
authors.initials: MH
authors.lastname: Moghadasian
authors.forename: Gerald
authors.initials: G
authors.lastname: Salen
authors.forename: Jiri J
authors.initials: JJ
authors.lastname: Frohlich
authors.forename: Charles H
authors.initials: CH
authors.lastname: Scudamore
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D004083:Cholestanol / Q000378:metabolism*; D003937:Diagnosis, Differential; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis; D009140:Musculoskeletal Diseases / Q000175:diagnosis; D012855:Sitosterols / Q000097:blood; D013710:Tendons / Q000503:physiopathology; D014973:Xanthomatosis / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology
chemical_list: D012855:Sitosterols; D002635:Chenodeoxycholic Acid; C025473:gamma-sitosterol; D004083:Cholestanol