Topic: neurodevelopmental signature

PSEN1 mutations are the most common cause of autosomal dominant Alzheimer’s disease (ADAD). Intriguingly, children carrying a PSEN1-ADAD variant presented high plasma amyloid-β1-42 levels and brain functional hyperconnectivity, indicating a dysregulation at development stages. However, whether there is a neurodevelopmental signature in the adult ADAD brain remains unknown. We aimed to explore neurodevelopment-related genes in the postmortem brain transcriptome of adult PSEN1-ADAD carriers compared to sporadic Alzheimer’s disease (AD). We searched RNA-seq and microarray datasets deposited in GE