Other Names for this Disease
- Cerebral cholesterinosis
- Sterol 27-hydroxylase deficiency
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Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. They are also effective in decreasing cholestanol concentration and improving clinical symptoms, however these treatments can induce muscle damage. Coenzyme Q10 may improve muscle weakness, and cataract surgery may also be required.
Last updated: 10/17/2013
- Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. GeneReviews. August 1, 2013; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctx. Accessed 9/12/2013.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- ClinicalTrials.gov lists trials that are studying or have studied Cerebrotendinous xanthomatosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.