The 29272 and the 41950 patients from the same family carried two different previously described AD pathogenic variants in two different genes: c.2751dup/p.(Gln918Thrfs *24) in MYO6 and c.2230G > A/p.(Asp744Asn) in ESPN. These two patients belong to a large family with more affected members, but these were geographically dispersed, and it was not possible to segregate these two variants with all family members in order to definitely elucidate the genetic basis and the inheritance pattern of HL in this case (Figure 2). Here, ESPN is linked to Alzheimer disease.