An unusual GFAP mutation in a Taiwanese child with infantile Alexander disease

Alexander disease (AD) is a rare progressive leukoencephalopathy which typically involves the frontal lobes. The disease spectrum comprises macrocephaly, progressive pyramidal signs, and seizures. It can be divided into infantile, juvenile, and adult subtypes according to the age of clinical presentation. AD is a not a primary disease of myelin, oligodendrocytes, or axons, but a disease of astrocytes. The disease is caused by mutations in the glial fibrillary acidic protein (GFAP) gene, which encodes a type III intermediate filament predominantly found in astrocytes in the central nervous system.

Source: Pediatrics and Neonatology - January 12, 2018 Category: Perinatology & Neonatology Authors: Jao-Shwann Liang, Li-Ju Lin, Haung-Chi Lin, Ming-Tao Yang, Jinn-Shyan Wang, Jyh-Feng Lu Tags: Short Communication Source Type: research