Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid

J Neurol. 1990 Jun;237(3):216-9. doi: 10.1007/BF00314598.


A 30-year-old patient with cerebrotendinous xanthomatosis was studied over a 6-year period. The clinical manifestations were cataracts, intellectual deterioration, ataxia, palatal and pharyngeal myoclonus, corticospinal tract damage and an electrophysiologically demonstrated sensorimotor peripheral neuropathy. Peripheral motor and sensory nerve conduction velocity was slowed. Sural nerve biopsy revealed reduced densities of both myelinated and unmyelinated axons and teased fibres showed evidence of axonal regeneration and some remyelination. The loss of myelinated nerve fibres particularly affected those of larger diameter, thus contributing to the slowing of nerve conduction. Chenodeoxycholic acid treatment for two separate periods of 10 and 6 months each increased nerve conduction velocity. This electrophysiological improvement was not matched by detectable clinical neurological improvement.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Biopsy
  • Brain Diseases / drug therapy
  • Brain Diseases / pathology
  • Brain Diseases / physiopathology*
  • Chenodeoxycholic Acid / therapeutic use*
  • Electrophysiology
  • Humans
  • Male
  • Muscular Diseases / drug therapy
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology
  • Nerve Fibers, Myelinated / pathology
  • Neural Conduction
  • Peripheral Nerves / physiopathology
  • Spinal Nerves / pathology*
  • Sural Nerve / pathology*
  • Tendons*
  • Xanthomatosis / drug therapy
  • Xanthomatosis / pathology
  • Xanthomatosis / physiopathology*


  • Chenodeoxycholic Acid