Kelly N H Nudelman, Trever Jackson, Malia Rumbaugh, Ani Eloyan, Marco Abreu, Jeffrey L Dage, Casey Snoddy, Kelley M Faber, Tatiana Foroud, Dustin B Hammers, Alexander Taurone, Maryanne Thangarajah, Paul Aisen, Laurel Beckett, Joel Kramer, Robert Koeppe, Walter A Kukull, Melissa E Murray, Arthur W Toga, Prashanthi Vemuri, Alireza Atri, Gregory S Day, Ranjan Duara, Neill R Graff-Radford, Lawrence S Honig, David T Jones, Joseph C Masdeu, Mario Mendez, Erik Musiek, Chiadi U Onyike, Meghan Riddle, Emily Rogalski, Stephen Salloway, Sharon J Sha, R Scott Turner, Thomas S Wingo, David A Wolk, Maria C Carrillo, Bradford C Dickerson, Gil D Rabinovici, Liana G Apostolova
INTRODUCTION: One goal of the Longitudinal Early-onset Alzheimer's Disease Study (LEADS) is to investigate the genetic etiology of early onset (40-64 years) cognitive impairment. Toward this goal, LEADS participants are screened for known pathogenic variants. METHODS: LEADS amyloid-positive early-onset Alzheimer's disease (EOAD) or negative early-onset non-AD (EOnonAD) cases were whole exome sequenced (N = 299). Pathogenic variant frequency in APP, PSEN1, PSEN2, GRN, MAPT, and C9ORF72 was assessed for EOAD and EOnonAD...
October 6, 2023: Alzheimer's & Dementia: the Journal of the Alzheimer's Association