Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene

Neurology. 2003 Oct 14;61(7):1014-5. doi: 10.1212/01.wnl.0000082440.42354.d0.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Respiratory / etiology
  • Alexander Disease / diagnosis*
  • Alexander Disease / genetics*
  • Alexander Disease / metabolism
  • Basal Ganglia / metabolism
  • Basal Ganglia / pathology
  • Choline / metabolism
  • Creatine / metabolism
  • DNA Mutational Analysis
  • Disease Progression
  • Electroencephalography
  • Fatal Outcome
  • Frontal Lobe / metabolism
  • Frontal Lobe / pathology
  • Glial Fibrillary Acidic Protein / genetics*
  • Head / abnormalities
  • Humans
  • Infant
  • Lactic Acid / metabolism
  • Lipid Metabolism
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Male
  • Mutation
  • Seizures / etiology

Substances

  • Glial Fibrillary Acidic Protein
  • Lactic Acid
  • Creatine
  • Choline