Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

N Engl J Med. 1984 Dec 27;311(26):1649-52. doi: 10.1056/NEJM198412273112601.


We studied the effect of chenodeoxycholic acid in 17 patients with cerebrotendinous xanthomatosis. Before treatment, all subjects were symptomatic, with Achilles tendon xanthomas (in 15 of 17), cataracts (in 12 of 17), dementia (in 13 of 17), pyramidal-tract signs (in all 17), cerebellar dysfunction (in 13 of 17), mild peripheral neuropathy (in 7 of 17), electroencephalographic abnormalities (in 10 of 13), and abnormal cerebral computerized axial tomographic scans (in 10 of 12). After at least one year of chenodeoxycholic acid treatment (750 mg per day), dementia cleared in 10 subjects, and pyramidal and cerebellar signs disappeared in 5 and improved in another 8. Peripheral neuropathy was no longer detected in six. The electroencephalogram became normal in five and showed fewer abnormalities in another three subjects. Cerebral computerized axial tomographic scans improved in seven patients; the changes included the disappearance of a cerebellar xanthoma in one case. Concomitantly, mean plasma cholestanol levels declined threefold, and abnormal bile acid synthesis was suppressed. We conclude that long-term therapy with chenodeoxycholic acid may correct the biochemical abnormalities and arrest and possibly reverse the progression of cerebrotendinous xanthomatosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Bile Acids and Salts / metabolism
  • Brain / diagnostic imaging
  • Brain Diseases, Metabolic / diagnostic imaging
  • Brain Diseases, Metabolic / drug therapy*
  • Brain Diseases, Metabolic / physiopathology
  • Chenodeoxycholic Acid / therapeutic use*
  • Cholestanols / blood
  • Cholesterol / blood
  • Electroencephalography
  • Female
  • Humans
  • Lipid Metabolism, Inborn Errors / diagnostic imaging
  • Lipid Metabolism, Inborn Errors / drug therapy*
  • Lipid Metabolism, Inborn Errors / physiopathology
  • Male
  • Middle Aged
  • Tendons
  • Tomography, X-Ray Computed
  • Ursodeoxycholic Acid / therapeutic use
  • Xanthomatosis / diagnostic imaging
  • Xanthomatosis / drug therapy*
  • Xanthomatosis / physiopathology


  • Bile Acids and Salts
  • Cholestanols
  • Chenodeoxycholic Acid
  • Ursodeoxycholic Acid
  • Cholesterol