Figure 1
From: A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
Brain MRI and genetic testing. (a–d) Axial fluid-attenuated inversion recovery (a–c) and sagittal T2-weighted (d) brain MR images showed atrophy and abnormal signals of the medulla oblongata (a,d), abnormal hyperintensities in the dentate nuclei and middle cerebellar peduncles (b), and frontal dominant periventricular white matter lesions (c). (e) Chromatograms of genomic DNA (upper), the subcloned mutant allele (middle), and the wild-type allele (lower). There was a heterozygous c.726_728dupAGG (red box) mutation in GFAP gene exon 4 that resulted in E243dup. (f) Summary of the GFAP protein structure and the location of insertion/deletion mutations (references cited in http://www.waisman.wisc.edu/alexander-disease). The alignment of the amino acid sequence of the coil 2A domain among species is also shown. The onset ages of the reported cases are in parentheses. Our case is underlined. The amino acid number is shown. m, months; MRI, magnetic resonance imaging; NA, not available; y, years.
