Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

Brain. 1999 Aug:122 ( Pt 8):1589-95. doi: 10.1093/brain/122.8.1589.

Abstract

We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord. Post-mortem examination of one of the patients showed extensive myelin loss in these columns. An array of genotypes was found in these patients. We conclude that 'spinal xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic myelopathy'.

MeSH terms

  • Adult
  • Age of Onset
  • Cerebellum / pathology
  • Cholestanetriol 26-Monooxygenase
  • Cytochrome P-450 Enzyme System / genetics*
  • Exons
  • Female
  • Genotype
  • Humans
  • Introns
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Point Mutation
  • Spinal Cord / pathology
  • Spinal Cord Diseases / genetics*
  • Spinal Cord Diseases / pathology*
  • Steroid Hydroxylases / genetics*
  • Xanthomatosis, Cerebrotendinous / genetics*
  • Xanthomatosis, Cerebrotendinous / pathology*

Substances

  • Cytochrome P-450 Enzyme System
  • Steroid Hydroxylases
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase