Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Cerebrotendinous xanthomatosis

Other Names for this Disease
  • Cerebral cholesterinosis
  • CTX
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Newline Maker

What causes cerebrotendinous xanthomatosis?

Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene. This condition is inherited in an autosomal recessive pattern.[1]
Last updated: 9/12/2013

  1. Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. GeneReviews. August 1, 2013; Accessed 9/12/2013.