Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment

Neurology. 2009 Dec 15;73(24):2127-9. doi: 10.1212/WNL.0b013e3181c679df.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Brain / metabolism*
  • Carrier Proteins / genetics*
  • Child, Preschool
  • DNA Mutational Analysis
  • Disease Progression
  • Dose-Response Relationship, Drug
  • Folate Receptor 1
  • Folate Receptors, GPI-Anchored
  • Humans
  • Leucovorin / administration & dosage
  • Male
  • Mutation*
  • Nervous System Diseases / congenital*
  • Nervous System Diseases / drug therapy
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / physiopathology
  • RNA / genetics
  • Receptors, Cell Surface / genetics*
  • Tetrahydrofolates / cerebrospinal fluid
  • Tetrahydrofolates / deficiency*
  • Treatment Outcome

Substances

  • Carrier Proteins
  • FOLR1 protein, human
  • Folate Receptor 1
  • Folate Receptors, GPI-Anchored
  • Receptors, Cell Surface
  • Tetrahydrofolates
  • RNA
  • Leucovorin
  • 5-methyltetrahydrofolate