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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