The PET scan of the Colombian man's brain shows little tau in the entorhinal cortex (blue), a region that normally accumulates the damaging protein early in Alzheimer's disease. (Credit: Mass General Brigham)
Colombian man's genetics should have doomed him to Alzheimer's. Instead, a rare mutation offers clue to protection
The man from Colombia was a medical mystery. Thousands of people in the country are born with a devastating mutation that causes Alzheimer’s disease, and others like him typically developed mild cognitive impairment around age 44 and dementia by 49.
But the man had remained healthy until his late 60s, only developing mild dementia at 72 and dying from pneumonia two years later. When his brain was examined, researchers found amyloid and tau — proteins long-linked to Alzheimer’s — scattered throughout.
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