Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort.

ABSTRACT:

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. Gene burden testing was performed in cases compared to similar-age cognitively normal controls in the Parkinson's Progression Markers Initiative (PPMI) study.

Results

Previously reported pathogenic variants in the six genes were identified in 1.35% of EOA

SUBMITTER: Nudelman KNH 

PROVIDER: S-EPMC10783439 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature