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Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

1 Sept 2017

Abstract excerpt

Importance: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. This extreme phenotype likely harbors highly penetrant risk variants, making it primed for discovery of novel risk genes and pathways for AD. Objective: To search for rare...

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PMID: 28738127
DOI: 10.1001/jamaneurol.2017.1518

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