APOE and Alzheimer disease: This patient also presented the Ser10STOP variant in SORL1, which is a truncating variant absent in ExAc (Exome Aggregation Consortium, http://exac.broadinstitute.org/) and GnomAD databases, with a CADD score of 35: these types of variant are considered as definitely pathogenic and associated with a significant 12-fold increased AD risk, which is comparable with the APOE-ε4 homozygosity effect [33].