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Diseases

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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Cause


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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

References
  1. 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.