The full content of Annals is available to subscribers

Subscribe/Learn More  >
Articles |

Cholestanol Deposition in Cerebrotendinous Xanthomatosis: A Possible Mechanism

[+] Article, Author, and Disclosure Information

Supported in part by U.S. Public Health Service grant HE06222, National Heart Institute; and U.S. Public Health Service grant FR-00102, General Clinical Research Centers Branch, Division of Research Facilities and Resources; National Institutes of Health, Bethesda, Md. Dr. Salen was awarded a Clinical Investigatorship, Veterans Administration, Washington, D.C.

▸Requests for reprints should be addressed to Gerald Salen, M.D., Medical Service, Veterans Administration Hospital, 408 First Ave., New York, N.Y. 10010

New York, New York

Ann Intern Med. 1971;75(6):843-851. doi:10.7326/0003-4819-75-6-843
Text Size: A A A

The relationship between tissue steroid measurements and clinical findings was examined in six individuals with cerebrotendinous xanthomatosis. Tendon xanthomas (six of six patients), neurologic dysfunction (four of six), pulmonary insufficiency (four of six), premature atherosclerosis (three of six), cataracts (two of six), and endocrine hypofunction (one of six) were encountered with decreasing frequency. Plasma cholestanol concentrations were elevated and were associated with low plasma cholesterol levels. Fifteen tissues obtained at postmortem contained 10 to 400 times more cholestanol and 30% more cholesterol. In bile, 10 times more cholestanol and substantial quantities of cholesterol precursors were found, but virtually no chenodeoxycholic acid was secreted. These findings indicate that symptoms develop at a variable pace and probably result from tissue accumulation of both sterols. The secretion of cholesterol percursors in the bile and elevated tissue sterol concentrations suggest overactive hepatic sterol synthesis, which we believe is related to a block in chenodeoxycholic acid production.





Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).


Submit a Comment/Letter
Submit a Comment/Letter

Summary for Patients

Clinical Slide Sets

Terms of Use

The In the Clinic® slide sets are owned and copyrighted by the American College of Physicians (ACP). All text, graphics, trademarks, and other intellectual property incorporated into the slide sets remain the sole and exclusive property of the ACP. The slide sets may be used only by the person who downloads or purchases them and only for the purpose of presenting them during not-for-profit educational activities. Users may incorporate the entire slide set or selected individual slides into their own teaching presentations but may not alter the content of the slides in any way or remove the ACP copyright notice. Users may make print copies for use as hand-outs for the audience the user is personally addressing but may not otherwise reproduce or distribute the slides by any means or media, including but not limited to sending them as e-mail attachments, posting them on Internet or Intranet sites, publishing them in meeting proceedings, or making them available for sale or distribution in any unauthorized form, without the express written permission of the ACP. Unauthorized use of the In the Clinic slide sets will constitute copyright infringement.


Buy Now for $42.00

to gain full access to the content and tools.

Want to Subscribe?

Learn more about subscription options

Topic Collections
PubMed Articles
Forgot your password?
Enter your username and email address. We'll send you a reminder to the email address on record.