Infantile-Onset Alexander Disease

Abstract

Researchers at the All India Institute of Medical Sciences, New Delhi, India, and VU University Medical Center, Amsterdam report a 6-year-old Indian boy with infantile-onset Alexander disease having an unusually mild clinical course and a de novo mutation in the glial fibrillary acidic protein (GFAP) gene.

Keywords

• glial fibrillary acidic protein
• focal seizures
• brisk reflexes