Look carefully to the heels! A potentially treatable cause of spastic paraplegia

J Inherit Metab Dis. 2015 Mar;38(2):363-4. doi: 10.1007/s10545-014-9745-0. Epub 2014 Aug 12.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Achilles Tendon / drug effects*
  • Achilles Tendon / pathology
  • Adult
  • Chenodeoxycholic Acid / therapeutic use*
  • Cholestanetriol 26-Monooxygenase / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense
  • Paraplegia / diagnosis
  • Paraplegia / drug therapy*
  • Paraplegia / genetics
  • Phenotype
  • Treatment Outcome
  • Xanthomatosis, Cerebrotendinous / complications
  • Xanthomatosis, Cerebrotendinous / diagnosis
  • Xanthomatosis, Cerebrotendinous / drug therapy*
  • Xanthomatosis, Cerebrotendinous / genetics

Substances

  • Chenodeoxycholic Acid
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase