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

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...

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Publicado en:JAMA Neurol
Autores principales: Kunkle, Brian W., Vardarajan, Badri N., Naj, Adam C., Whitehead, Patrice L., Rolati, Sophie, Slifer, Susan, Carney, Regina M., Cuccaro, Michael L., Vance, Jeffery M., Gilbert, John R., Wang, Li-San, Farrer, Lindsay A., Reitz, Christiane, Haines, Jonathan L., Beecham, Gary W., Martin, Eden R., Schellenberg, Gerard D., Mayeux, Richard P., Pericak-Vance, Margaret A.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Medical Association 2017
Materias:
Original Investigation
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5691589/
https://ncbi.nlm.nih.gov/pubmed/28738127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2017.1518
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