People who inherit a single copy of a familial Alzheimer’s disease (FAD) genetic mutation are almost guaranteed to develop Alzheimer’s symptoms around the same age their parent did. But there are a few seemingly miraculous people who have an FAD mutation who have not developed the disease, decades after their anticipated age of symptom onset. These individuals are known as “escapees.”
Doug, carries an FAD mutation that has plagued his family, but he is living well past his family’s age of onset. Watch this video to learn more about Doug’s story as an escapee:
“Escapees” offer scientists an incredibly rare opportunity - to learn how people’s bodies may naturally resist Alzheimer’s.
If researchers can uncover the factors that protect escapees from memory decline, they may be able to mimic that protection to develop better treatments or even prevent Alzheimer's disease. This could help FAD families, but may also benefit those who would otherwise develop sporadic Alzheimer’s.
Recently, an escapee in Colombia helped scientists identify one potential way to protect against Alzheimer’s disease. This escapee lived well into her 70s without developing Alzheimer’s, which was decades past her family’s normal age of FAD onset (usually in their 40s). Researchers discovered that she was protected from FAD by another rare genetic mutation known as the “Christchurch” mutation. This discovery inspired new investigations to understand how we might mimic the protective effects of the Christchurch mutation for others.
Researchers also now know that other escapees don’t have this same protective factor, meaning there could be multiple avenues for escaping FAD.