Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene

Acta Neuropathol. 2007 Nov;114(5):543-5. doi: 10.1007/s00401-007-0292-8. Epub 2007 Sep 6.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alexander Disease / genetics*
  • Alexander Disease / pathology*
  • Alexander Disease / physiopathology
  • Amino Acid Substitution / genetics
  • Astrocytes / metabolism
  • Astrocytes / pathology*
  • Atrophy / genetics
  • Atrophy / pathology
  • Atrophy / physiopathology
  • Autopsy
  • Brain / metabolism
  • Brain / pathology
  • Brain / physiopathology
  • DNA Mutational Analysis
  • Disease Progression
  • Fatal Outcome
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Glial Fibrillary Acidic Protein / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscular Atrophy / genetics
  • Muscular Atrophy / pathology
  • Muscular Atrophy / physiopathology
  • Mutation / genetics
  • Nerve Fibers, Myelinated / metabolism
  • Nerve Fibers, Myelinated / pathology*
  • Occipital Lobe / metabolism
  • Occipital Lobe / pathology*
  • Occipital Lobe / physiopathology
  • Phenotype
  • Spinal Cord / metabolism
  • Spinal Cord / pathology
  • Spinal Cord / physiopathology

Substances

  • Genetic Markers
  • Glial Fibrillary Acidic Protein