Cerebrotendinous xanthomatosis

Overview

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

Council for Bile Acid Deficiency Diseases.

There is also a very good article about CTX written for doctors at GeneReviews Cerebrotendinous xanthomatosis website.

References
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Are there other names for cerebrotendinous xanthomatosis?

How common is cerebrotendinous xanthomatosis?

What is the usual abbreviation for cerebrotendinous xanthomatosis?

Are there other names for cerebrotendinous xanthomatosis?

Cerebrotendinous xanthomatosis may also be known as:

  • Cerebral cholesterinosis
  • CTX
  • Sterol 27-hydroxylase deficiency
References
How common is cerebrotendinous xanthomatosis?

More than 400 people with cerebrotendinous xanthomatosis have been reported in the medical literature. Generally, the disorder is considered extremely rare. However, a study in 2015 suggested that cerebrotendinous xanthomatosis is most likely under-recognized and underdiagnosed. According to the study, researchers estimated incidence rates as ranging from: 1:134,970 to 1:461,358 in Europeans, 1:263,222 to 1:468,624 in Africans, 1:71,677 to 1:148,914 in Americans, 1:64,267 to 1:64,712 in East Asians and 1:36,072 to 1:75,601 in South Asians.

References
  • Appadurai V, DeBarber A, Chiang PW, et al. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab. 2015;116(4):298-304.
  • Fraidakis MJ. Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry. 2013;3;3:e302.
What is the usual abbreviation for cerebrotendinous xanthomatosis?

The standard medical abbreviation for cerebrotendinous xanthomatosis is CTX.

References
  • Cerebrotendinous xanthomatosis. Online Mendelian Inheritance in Man (OMIM) website. http://omim.org/entry/213700. Updated July 22, 2011. Accessed April 10, 2016.

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