From the 34 index patients with pathogenic (n = 30) or likely pathogenic (n = 4) variants, 22 had AD inherited heterozygous variants (64.5%), five had AD de novo heterozygous variants (14.5%), three had autosomal recessive inheritance (one homozygous SLC4A1, two compound heterozygous SPTA1, 9%), and four had variants with unknown inheritance patterns (12%) (Table 1). Here, SPTA1 is linked to Alzheimer disease.