APOE Christchurch: Alternative mechanisms of protection
Paula Perez, Mazzarino Randall, Claudia Marino, Guido Vacano, Said Arevalo-Alquichire, William Miller, Timothy Vanderleest, Robert Obar, Joseph Arboleda-Velasquez · FENS Forum 2024
Presenilin1 (PSEN1) E280A mutation causes early onset Alzheimer’s disease (AD) in the world’s largest familial AD kindred. We previously published a case report of a carrier from this kindred who was remarkably protected from cognitive decline for thirty years. Positron emission tomography (PET) brain analysis showed lower levels of Tau pathology relative to typical PSEN1 E280A carriers. Whole-genome sequencing revealed homozygosity for an Apolipoprotein E mutation (Christchurch, APOECh). As the ApoECh mutation is found within the heparan sulfate proteoglycan (HSPG) binding domain, we hypothes
ePoster · Neuroscience