The link between Down syndrome and Alzheimer’s

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Chromosome 21?: UCI researchers studying link between Down syndrome and Alzheimer’s

May 24, 2016   Updated May 25, 2016  By COURTNEY PERKES

Gerard Fobes, 45, participates in research at UCI looking at why people with Down syndrome are more likely to develop Alzheimer's disease and do so at younger ages. SAM GANGWER, STAFF PHOTOGRAPHER

Gerard Fobes, 45, participates in research at UCI looking at why people with Down syndrome are more likely to develop Alzheimer’s disease and do so at younger ages. SAM GANGWER, STAFF PHOTOGRAPHER

When Ruth Russi was born with Down syndrome in 1959, her parents were told she would die before her fifth birthday. By the time Ruth turned 50, John and June Russi of Costa Mesa began to prepare for her outliving them.

But as she aged, Ruth’s behavior changed. She would stare at her crayons, unable to color, or walk out of church still clutching a dollar bill for the offering.

John, 85, and June, 79, were devastated to learn that Alzheimer’s disease, a condition they worried about for themselves, had inhabited their daughter’s brain. Ruth died last fall, a week before her 56th birthday.

“We’d always been able to make her happy one way or another,” John Russi said. “At the end we couldn’t make her happy. That hurt.”

Alzheimer’s disease

A 45-year-old adult with Down syndrome has a 20 percent to 25 percent risk of developing Alzheimer’s disease. At age 55, the risk is 50 percent. By age 65, the risk is 75 percent.

In the general population, the risk of developing Alzheimer’s doubles every five years after age 65. By age 85, the risk is nearly 50 percent.

Source: UCI, Alzheimer’s Association

Those with Down syndrome are not only more susceptible to Alzheimer’s, but they experience onset at younger ages. Longer lifespans are creating caregiving burdens for families like the Russis and driving more research into the genetic connection between the developmental disorder and degenerative brain disease.

UC Irvine has received $4.7 million from the National Institute on Aging to launch a five-year study this summer aimed at identifying who with Down syndrome is most at risk for developing dementia.

“I think the urgency in part reflects the urgency of Alzheimer’s research,” said Dr. Ira Lott, a pediatric neurologist and lead researcher. “Alzheimer’s is a tremendous national problem. Many people with Down syndrome live productive and happy lives. To have that cut off prematurely by Alzheimer’s disease is a tragedy that we’re trying to prevent.”

The findings could result in better treatment options and yield discoveries that would also benefit the general population.

“Anytime we can shine a light on any aspect of this disease, that is massively important,” said Jim McAleer, CEO of Alzheimer’s Orange County. “It’s vitally important for those people and their families that we learn how to treat this disease and cure it in that population. Science might learn more about the disease because of the genetic difference in that population. I think it actually can move science forward.”

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