Parkinson’s Disease Genetic Variants in Sporadic Early Onset Dementia: Results from the Longitudinal Early Onset Alzheimer’s Disease Study

Background Much of the genetic etiology of sporadic early onset Alzheimer’s disease and frontotemporal dementia is largely unknown. Genetic investigation using whole exome sequencing (WES) data in the Longitudinal Early Onset Alzheimer’s Disease Study (LEADS) aims to address this gap, with the hypothesis that some individuals with early onset cognitive impairment may carry pathogenic, potentially causative variants in Parkinson’s disease (PD) genes. Methods Whole exome sequencing data for cognitively impaired LEADS participants (N = 301) was processed using the GATK best practices pipeline with Sentieon software; joint‐called VCFs were annotated with Annovar, and the results were filtered to prioritize amino acid code‐altering variants with minor allele frequencies