Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis

J Neurol. 2004 Jan;251(1):105-7. doi: 10.1007/s00415-004-0221-x.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Letter

MeSH terms

  • Age of Onset
  • Alanine / genetics
  • Bile Acids and Salts / blood
  • Cholestanetriol 26-Monooxygenase
  • Cholestanol / blood
  • Cholesterol / blood
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Diagnostic Errors
  • Diarrhea / complications
  • Family Health
  • Female
  • Heterozygote*
  • Humans
  • Magnetic Resonance Imaging / methods
  • Middle Aged
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics
  • Mutation
  • Phenotype*
  • Proline / genetics
  • Steroid Hydroxylases / genetics*
  • Xanthomatosis, Cerebrotendinous / blood
  • Xanthomatosis, Cerebrotendinous / diagnosis
  • Xanthomatosis, Cerebrotendinous / genetics*
  • Xanthomatosis, Cerebrotendinous / pathology

Substances

  • Bile Acids and Salts
  • Cholestanol
  • Cholesterol
  • Proline
  • Steroid Hydroxylases
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase
  • Alanine