Diseases & Conditions


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Cerebrotendinous Xanthomatosus


Synonyms of Cerebrotendinous Xanthomatosus
  • Cerebral Cholesterinosis
  • CTX

Disorder Subdivisions



    General Discussion
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency of the mitochondrial enzyme sterol 27-hydroxylase. The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid. Cholestanol deposits accumulate in the nerve cells and membranes, and cause damage to the brain, spinal cord, tendons, lens of the eye and arteries. Affected individuals experience cataracts in childhood, and benign, fatty tumors (xanthomas) of the tendons during adolescence. This leads to progressive neurologic problems in adulthood such as paralysis, ataxia and dementia. Coronary heart disease is common.

    Organizations related to Cerebrotendinous Xanthomatosus
    • Australian Leukodystrophy Support Group, Inc.
      10 Mitchell Street
      Mentone, Victoria None 3194
      Phone #: 001-1(0-3)9584 7070
      800 #: N/A
      e-mail: leuko@vicnet.net.au
      Home page: http://www.alds.org.au
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Hunter's Hope Foundation, Inc.
      PO Box 643
      Orchard Park NY 14127
      Phone #: 716-667-1200
      800 #: 877-984-4673
      e-mail: info@huntershope.org
      Home page: http://www.huntershope.org
    • Kennedy Krieger Institute
      707 North Broadway
      Baltimore MD 21205
      Phone #: 443-923-9200
      800 #: 800-873-3377
      e-mail: webmaster@kennedykrieger.org
      Home page: http://www.kennedykrieger.org
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • United Leukodystrophy Foundation
      2304 Highland Drive
      Sycamore IL 60178
      Phone #: 815-895-3211
      800 #: 800-728-5483
      e-mail: office@ulf.org
      Home page: http://www.ulf.org/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html