Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy

J Child Neurol. 2013 Mar;28(3):396-8. doi: 10.1177/0883073812444313. Epub 2012 May 7.

Abstract

Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene.

Publication types

  • Case Reports

MeSH terms

  • Alexander Disease / diagnosis*
  • Alexander Disease / genetics
  • Alexander Disease / pathology
  • Brain / pathology*
  • Child
  • Glial Fibrillary Acidic Protein / genetics*
  • Humans
  • India
  • Male
  • Nerve Fibers, Myelinated / pathology*
  • Severity of Illness Index

Substances

  • Glial Fibrillary Acidic Protein