UK DRI at UCL Guest Seminar: Carlos Alberto Rueda Pérez

Neuropathological Insights into Early-Onset Alzheimer's Disease: PSEN1 Gene Variants and Protective Mutations

Early-onset Alzheimer's disease is often associated with genetic mutations, with variants in the PSEN1 gene being the most common culprits. In this talk, we will delve into the neuropathological characteristics of these PSEN1 mutations. However, the story of early-onset dementia is not solely one of vulnerability. Recent research has unveiled two intriguing mutations, ApoE3 Christ-Church and Reelin-COLBOS, which appear to act as protective factors against the onset of this devastating disease. Join us as we explore the complexities of Alzheimer's genetics and the potential for these protective mutations to guide future research and therapeutic strategies.