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Cerebrotendinous Xanthomatosis

Abstract

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NORD is very grateful to Antonio Federico, MD, Director, Neurology and Neurometabolic Diseases, University of Siena Medical School, Siena, Italy, for assistance in the preparation of this report.

Synonyms of Cerebrotendinous Xanthomatosis

  • cerebral cholesterinosis
  • CTX
  • sterol 27-hydroxylase deficiency

Disorder Subdivisions

  • No subdivisions found.

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 Xanthomatosis

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