CTX and Leukodystrophy sites and information

Please note that the links on this page will take you to a site outside of the CTXInfo.org domain. The author of CTXInfo.org is not responsible for the content contained on these external sites.

Non Medical Sites

Cerebrotendinous Xanthomatosis Yahoo Health Group

Here's an abstract that was written about Ashley and her unusual presentation of possibly having both SLO and CTX.

Medical Related Sites

Genetests.com - Genetests.com is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. This is one of our favorites for giving a thorough breakdown of each disease, the symptoms, treatments, and patterns of inheritance.

Cerebrotendinous Xanthomatosis - Possible Higher Prevalence Than Previously Recognized - This link takes you to an article in the Archives of Neurology written by Dr. John Fink that indicates that the prevalance of CTX is likely much more than is currently known diagnosed. Here is a link to a PDF of this article.

CTX - This link takes you to the CTX profile page of Genetests.com.

LOVD - This link takes you to the Leiden Open Variation Datbase

Human Gene Mutation Database - This site breaks down all of the genetic mutations associated with a disorder, this link is for the CYP27A1 gene which is the gene responsible for CTX.

SLO -This link takes you the Smith-Lemli-Opitz Syndrome profile page of Genetests.com.

Krabbe Disease - This link takes you the Krabbe Disease profile page of Genetests.com.

Canavan Disease - This link takes you the Canavan Disease profile page of Genetests.com.

General Leukodystrophy sites

Hunter's Hope - Links to huntershope.com. This site was established in 1997 by Pro Football Hall of Fame member and former Buffalo Bills Quarterback, Jim Kelly, and his wife, Jill, after their infant son, Hunter, was diagnosed with Krabbe Leukodystrophy. The Foundation is the Kelly's life long commitment to increase public awareness of leukodystrophies as well as to increase the likelihood of early detection and treatment.

United Leukodystrophy Foundation - Links to The United Leukodystrophy Foundation. The United Leukodystrophy Foundation (ULF), incorporated in 1982, is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social services, and genetic counseling.

Links to articles and studies on CTX

National Center for Biotechnology Information - This site contains briefs of studies of many diseases. The links below are from the NCBI and are CTX and General Leukodystrophy related.

Cerebrotendinous xanthomatosis, a treatable metabolic disorder

Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use.

Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.

Treatment and follow-up of children with cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy. - This page has a link to the full article text. Very technical but does have some good information.

Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis.