Interestingly, performing a high-throughput genome-wide analysis revealed a rare autosomal copy number (488kb) polymorphism in the Cdh2 gene in FAD patients reinforcing the idea that PSEN1/CDH2 signaling is an important part of AD synaptic pathogenesis (Hooli et al., 2014). The gene discussed is CDH2; the disease is familial Alzheimer disease.