Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations

J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):115. doi: 10.1136/jnnp.2010.218586. Epub 2010 Dec 2.
No abstract available

Publication types

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

MeSH terms

  • 5,10-Methylenetetrahydrofolate Reductase (FADH2) / genetics*
  • Disease Progression
  • Electron Transport Complex I / deficiency*
  • Genes, Recessive / genetics
  • Homocysteine / blood
  • Homozygote
  • Humans
  • Mutation, Missense / genetics*
  • Paraparesis, Spastic / genetics*
  • Siblings
  • Young Adult

Substances

  • Homocysteine
  • 5,10-Methylenetetrahydrofolate Reductase (FADH2)
  • Electron Transport Complex I