Fig. 1. Brain images and the pedigree of the AD patient with APP-V715M mutation. (A) Left: Fluid-attenuated inversion recovery MR images showing the generalized cortical atrophy, including medical temporal lobes in the patient with APP mutation. 18F-Florbetaben (FBB) amyloid PET images showed increased amyloid uptakes in the cerebral cortices and the bilateral striatum in the patient. Right: Control subject showing normal brain MRI findings without cortical atrophy and non-specific subcortical amyloid uptakes, which is normal in elderly subjects. Standardized uptake value ratio (SUVR) was measured using cerebellar grey matter as the reference region. (B) Pedigree of the APP-V715M family. Autosomal-dominant pattern of inheritance was observed on the patient marked with an arrow.
