Alzheimer disease (AD) is the most common cause of dementia. In the past decade, many advances in the understanding of the etiology of AD have been reported. Familial early onset AD is a heterogeneous disorder that can be caused by mutations in at least three different genes. Current studies are focused on identifying genetic risk factors for late onset AD. In this article, the authors will review the progress in understanding the pathogenic implications of the genes mutated in familial early onset AD and the mapping studies to identify additional genes involved in late-onset AD.