Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation

Eur J Neurol. 2012 Nov;19(11):e127-9. doi: 10.1111/j.1468-1331.2012.03838.x. Epub 2012 Aug 27.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Agenesis of Corpus Callosum / genetics*
  • Agenesis of Corpus Callosum / pathology*
  • Amino Acid Sequence
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mixed Function Oxygenases / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Paraparesis, Spastic / genetics*
  • Paraparesis, Spastic / pathology*
  • Pedigree
  • Siblings

Substances

  • Mixed Function Oxygenases
  • fatty acid alpha-hydroxylase