The Paisa mutation, nicknamed for the people of northwest Colombia’s Antioquia region in whom it is found, is associated with sticky clumps of protein in the brain called amyloid-β plaques, one of the hallmarks of Alzheimer disease.
Individuals who inherit a copy of the Paisa mutation—E280A in the presenilin 1 gene—from one of their parents develop mild cognitive impairment by 44 years of age, on average, and Alzheimer disease 5 years after that. Typically, they die within a few years after their 59th birthday.