Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene

Neurology. 2002 May 28;58(10):1541-3. doi: 10.1212/wnl.58.10.1541.


Early-onset (infantile) Alexander disease is associated with mutations in the glial fibrillary acidic protein (GFAP) gene and two hot spots correlate to the severe phenotype. No molecular mechanisms have been elucidated in late-onset (juvenile) Alexander disease. The authors report a novel GFAP mutation in a patient with juvenile Alexander disease. The authors discuss similar molecular mechanisms in another intermediate filament disease and propose a possible molecular pathogenesis in juvenile Alexander disease.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Age of Onset
  • Central Nervous System Diseases / genetics*
  • Glial Fibrillary Acidic Protein / genetics*
  • Humans
  • Male
  • Pedigree
  • Point Mutation / genetics*


  • Glial Fibrillary Acidic Protein