Familial Alzheimer disease (AD) is an extremely rare early onset form of AD that is heritable from parent to child with an autosomal dominant inheritance pattern.

In the 1990’s, linkage studies identified specific mutations in presenilin 1 (PSEN1), preseniilin 2 (PSEN2) and the Amyloid precursor protein (APP) genes to be causative for disease in a subset of AD families. Now there is evidence that pathogenic mutations in the SORL1 gene should be considered next to the pathogenic mutations in PSEN1, PSEN2 and APP, and that SORL1 should be considered as “the fourth” autosomal dominant Alzheimer gene.

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