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Genetic and Rare Diseases Information Center (GARD)

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Cerebrotendinous xanthomatosis

Other Names for this Disease
  • Cerebral cholesterinosis
  • CTX
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Tests & Diagnosis

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Is genetic testing available for cerebrotendinous xanthomatosis?

Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition.
Last updated: 9/12/2013

How is cerebrotendinous xanthomatosis diagnosed?

Cerebrotendinous xanthomatosis is diagnosed by a combination of clinical features, cholestanol levels, and genetic testing. Individuals with cerebrotendinous xanthomatosis have high levels of cholestanol in their blood. Genetic testing of the CYP27A1 gene is also available and can detect mutations in about 98% of patients.[1]
Last updated: 9/12/2013

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