More than 40% of FAD is caused by mutations in one of three genes, including APP, PSEN1 and PSEN2, and still half of FAD don't carry any of above causative mutations, suggesting that besides APP, PSEN1 and PSEN2, there might be other potential genetic mutations which require scientists to detect.

Whole exome sequencing (WES) has become widely used to find causative genes or susceptibility genes of Mendelian diseases and other complex diseases. Using the combination of WES and linkage analysis to study familial Alzheimer's disease may find new causative genes and its pathogenesis.

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