This condition has been associated with one or two pathogenic variants in either gene (AD/AR, OMIM phenotype number 220100 for SLC3A1 (Font-Llitjós et al., 2005), OMIM phenotype number 220100 for SLC7A9 (Dello Strologo et al., 2002)), one pathogenic variant in each gene (DR) (Font-Llitjós et al., 2005), or two pathogenic variants in one gene with one pathogenic variant in the other gene (triallelic inheritance) (Rhodes et al., 2015). This evidence concerns the gene AR and Alzheimer disease.