Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual carrying the presenilin 2 (PSEN2) p.Asn141Ile mutation, a genetic variant known to cause dominantly inherited Alzheimer’s disease (DIAD). The high risk individual, despite being 18 years past the expected age of clinical onset, has remained cognitively intact. Researchers investigated genetic, neuroimaging, and biomarker data to understand potential protective mechanisms.
This article was originally published on MedicalXpress.com