Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy

K. Ramesh, S. Sharma, A. Kumar, G.S. Salomons, M.S. van der Knaap, S. Gulati

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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
Original languageEnglish
Pages (from-to)396-398
JournalJournal of child neurology
Volume28
Issue number3
DOIs
Publication statusPublished - 2013

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