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NIH Record - National Institutes of Health

Unique Case of Disease Resistance Reveals Possible AD Treatment

An older woman wearing a hat prunes flower stems in the garden.

A woman at risk for early-onset Alzheimer's did not develop signs of the disease until her 70s.

Photo: JacobLund/iStock

Defying the odds, an individual at high risk for early-onset Alzheimer’s disease remained dementia-free for many years beyond what was anticipated. A study funded in part by NIA led researchers to suggest that a gene variant may be the key, perhaps providing a new direction toward developing a treatment.

The research focused on the case of a woman who carried a gene mutation known to cause early-onset Alzheimer’s. However, she did not develop signs of the disease until her 70s, nearly three decades after her expected age of onset. The researchers suspect that she may have been protected because in addition to the gene mutation causing early-onset Alzheimer’s in her family, she also had two copies of the APOE3 Christchurch (APOE3ch) gene variant. Findings of this case study as published in Nature Medicine suggest that two copies of the APOE3ch variant, named after Christchurch, New Zealand, where it was first identified, may protect against Alzheimer’s.

“Sometimes close analysis of a single case can lead to a discovery that could have broad implications for the field,” said NIA director Dr. Richard Hodes. “We are encouraged that as part of our wide array of studies, this research in the unique genetic makeup of an exceptional individual can reveal helpful information.”

Early-onset Alzheimer’s disease is rare, representing less than 10 percent of all people who have Alzheimer’s. It typically occurs between a person’s 30s to mid-60s. Risk for both early- and late-onset Alzheimer’s disease is affected by genetic factors.

The NIH Record

The NIH Record, founded in 1949, is the biweekly newsletter for employees of the National Institutes of Health.

Published 25 times each year, it comes out on payday Fridays.

Associate Editor: Carla Garnett
Carla.Garnett@nih.gov

Staff Writers:

Eric Bock
Eric.Bock@nih.gov

Dana Talesnik
Dana.Talesnik@nih.gov

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