A rare mutation helped one man stave off Alzheimer’s for decades

A rare genetic mutation never seen before protected a man with an inherited form of Alzheimer’s from developing the disease for decades.. Both mutations may have staved off the disease for years by acting in similar ways in the brain, an insight that could lead toBut some researchers are cautious about concluding too much from just two cases.

The woman stayed sharp into her 70s, while the man described in the new study was still mentally healthy at 67. “That means they were protected, because they should have gotten the disease 30 years earlier, and they didn’t,” says Diego Sepulveda-Falla, a neurologist at the University Medical Center Hamburg-Eppendorf in Germany.. This mutation is known as the Christchurch variant, after the city in New Zealand where it was first found.

The researchers compared the two cases, finding striking similarities and differences. Amyloid plaques, thought by many researchers to be deeply involved in Alzheimer’s, were abundant in both patients’ brains. But the woman had low levels of another possible Alzheimer’s culprit, clusters of proteins called tau tangles. The researchers think this is what spared her from dementia for decades, as tau is more tightly linked to symptoms than amyloid, researchers suspect.

In the Colombian man’s brain, the researchers found a different picture for tau. “Unlike the Christchurch case, this case was severely affected by tau,” Sepulveda-Falla says. “This shocked us initially, then we figured out we needed to roll our sleeves up and dig deeper.” Some brain regions, notably the entorhinal cortex, which is important for memory and one of the earliest areas affected in Alzheimer’s, had been spared from the tau buildup, the team found.

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