Abstract:Alexander disease is a genetically-induced leukodystrophy, due to dominant mutations in the glial fibrillary acidic protein (GFAP) gene, causing dysfunction of astrocytes. We have identified a novel GFAP mutation, associated with a novel phenotype for Alexander disease. A boy with global developmental delay and hypertonia was found to have a leukodystrophy. Genetic analysis revealed a heterozygous point mutation in exon 6 of the GFAP gene. The guanine-to-adenine change causes substitution of the normal glutami… Show more
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