Figure 1.

Brain imaging, family pedigree, and genetic analysis of a patient as well as prediction of the mutation-induced protein structure. (A) Axial FLAIR, coronal T2 images of brain MRI, with the arrows indicating the right hippocampal atrophy. (B) Family tree identifying the proband (arrow) with the APP and PSEN2 mutations. (C,D) Sanger sequencing of APP and PSEN2 variant. Heterozygous variants were indicated by a black arrow and red box. (E,F) The prediction of the mutation-induced alterations in the intramolecular interactions. 2D and 3D prediction of the structure and interactions between amino acids in the wild-type (E) and mutant APP (F). Green and pink dot lines represent hydrogen bond and alkyl interaction, respectively.