The researchers believe that the woman’s brain could provide important information about treating dementia.Due to a rare genetic mutation, Aliria Rosa Piedrahita de Villegas should have hadHer brain is now providing important information on the pathology of dementia and potential treatments for Alzheimer’s disease since she lived dementia-free into her 70s.
“This is a ground-breaking case for Alzheimer’s disease and has already opened new paths for treatment and prevention, which we’re currently pursuing with some collaborators. This work is now bringing light into some of the mechanisms of resistance to Alzheimer’s disease” says investigator Yakeel T. Quiroz, Ph.D.
The APOE2 variant is known to be protective against Alzheimer’s dementia, while the APOE4 variant is linked to an increased risk for the disease. “This patient gave us a window into many competing forces — abnormal protein accumulation, inflammation, lipid metabolism, homeostatic mechanisms — that either promote or protect against disease progression, and begin to explain why some brain regions were spared while others were not,” says Justin Sanchez, AB, co-first author, and an investigator at MGH Neurology.
Instead, the tau pathology involved the occipital cortex, the area of the brain at the back of the head that controls visual perception.
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