What is cerebrotendinous xanthomatosis?
Cerebrotendinous xanthomatosis (CTX) is a genetic condition in which cholesterol and a similar fatty substance called cholestanol build up in the brain, nerves, spinal cord, tendons, lenses of the eyes, and arteries. In the brain, cholestanol can build up and damage the white matter (myelin) leading to worsening intellectual ability (progressive neurological deterioration). In CTX, the cholesterol and cholestanol build up as people with this disorder do not have enough of an enzyme called sterol 27-hydroxylase to break down cholesterol and cholestanol. The symptoms may be very different among different people. This is because the organ systems that become affected in one person might be different from those affected in another. The age when symptoms first appear, whether neurological problems occur, how quickly the disease gets worse, and the overall severity can all be very different among individuals with this disorder. People with this disorder can be treated with chenodeoxycholic acid. Early diagnosis and prompt treatment is critical. Sometimes, the damage from the disease can be stopped or even reversed. CTX occurs because of changes in a gene called CYP72A1. This gene change is inherited from the parents.
There are support groups and organizations for CTX that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. These groups for cerebrotendinous xanthomatosis include the United Leukodystrophy Foundation and
There is also a very good article about CTX written for doctors at GeneReviews Cerebrotendinous xanthomatosis website.
Federico A, Dotti MT, Gahl W. Cerebrotendinous Xanthomatosis. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1409/ Updated August 1, 2013. Accessed April 10, 2016.
Cerebrotendinous Xanthomatosis. National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/cerebrotendinous-xanthomatosiss/. Updated 2014. Accessed April 10, 2016.