Article
Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Nov 2023
Nudelman Kelly N H, Jackson Trever, Rumbaugh Malia, Eloyan Ani, Abreu Marco, Dage Jeffrey L, Snoddy Casey, Faber Kelley M, Foroud Tatiana, Hammers Dustin B, Taurone Alexander, Thangarajah Maryanne, Aisen Paul, Beckett Laurel, Kramer Joel, Koeppe Robert, Kukull Walter A, Murray Melissa E, Toga Arthur W, Vemuri Prashanthi, Atri Alireza, Day Gregory S, Duara Ranjan, Graff-Radford Neill R, Honig Lawrence S, Jones David T, Masdeu Joseph C, Mendez Mario, Musiek Erik, Onyike Chiadi U, Riddle Meghan, Rogalski Emily, Salloway Stephen, Sha Sharon J, Turner R Scott, Wingo Thomas S, Wolk David A, Carrillo Maria C, Dickerson Bradford C, Rabinovici Gil D, Apostolova Liana G
Abstract excerpt
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)....
Topics
- Humans
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- C9orf72 Protein
- Genetic Testing
- Longitudinal Studies