title: Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy.
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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Konanki
authors.initials: K
authors.lastname: Ramesh
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.forename: Atin
authors.initials: A
authors.lastname: Kumar
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
mesh_terms: D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002648:Child; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D012720:Severity of Illness Index
chemical_list: D005904:Glial Fibrillary Acidic Protein