An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

J Neurol. 2009 Apr;256(4):679-82. doi: 10.1007/s00415-009-0147-4. Epub 2009 Apr 27.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Alexander Disease / genetics*
  • Alexander Disease / pathology*
  • Brain / pathology
  • Cell Line, Tumor
  • DNA Mutational Analysis
  • Female
  • Glial Fibrillary Acidic Protein / genetics*
  • Glial Fibrillary Acidic Protein / metabolism
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Mutation, Missense
  • Protein Multimerization / genetics

Substances

  • Glial Fibrillary Acidic Protein