Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction

Ment Retard Dev Disabil Res Rev. 2006;12(2):113-22. doi: 10.1002/mrdd.20101.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Alexander Disease / genetics*
  • Alexander Disease / pathology
  • Alexander Disease / physiopathology*
  • Astrocytes / pathology
  • Astrocytes / physiology*
  • Brain / pathology
  • Brain / physiopathology*
  • Chromosomes, Human, Pair 17 / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Glial Fibrillary Acidic Protein / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Membrane Proteins / genetics*
  • Molecular Biology / methods
  • Point Mutation / genetics

Substances

  • Glial Fibrillary Acidic Protein
  • MLC1 protein, human
  • Membrane Proteins