Neurologist exploring link between Down Syndrome and Alzheimer's

SOUTH BEND, Ind.--- More than five million Americans live with Alzheimer’s.

Of those, more than 400,000 also have Down Syndrome.

But what do the two have in common?

Quite a bit if you ask one neurologist who is behind a program exploring the links between the two.

Jonathan Shirley has Down Syndrome, but he's never let what he can't do hold him back.

"I don't look at disabilities at all. I look at what I can do," said Jonathan.

His dad, Jerry, says Jonathan is always finding ways to help others.

"Jonathan is an amazing guy. He's been an inspiration," said Jerry.

Now Jonathan is helping doctors at UC San Diego not only learn more about his condition, but also about Alzheimer’s disease.

"These individuals, when they hit the age of 40, 100 percent of them have the pathological changes of Alzheimer’s disease in their brain," said Dr. Michael Rafii, a Neurologist at U.C.S.D.

As part of a clinical trial, Dr. Michael Rafii has found Down Syndrome brains look very much like Alzheimer’s brains.

Both have higher levels of the protein Beta Amyloid.

In fact, Down Syndrome patients develop the protein at double the rate.

“We may be able to translate those discoveries into therapies for the general population,” said Dr. Rafii. “People with Down Syndrome represent the world's largest population of predetermined Alzheimer’s disease from a genetic perspective."

Lisa Goldberg, 61, has Down Syndrome, and her sister says she is now showing some signs of dementia also.

"Something that happened five minutes ago, you know, it's hit or miss what she recalls," said Lisa’s sister, April Hinson.

But Lisa still works, and like Jonathan, she doesn't let her disability get in her way.

"Never say ‘I can't’," said Lisa.

"We are all special in our own way," said Jonathan.

Dr. Raifi is now focusing on the differences Amyloid Plaques have on the brain.

He wants to know why these plaques cause some to have full blown dementia, and others to never experience the disease.

Dr. Rafii believes there is something in the brain that makes certain people resilient to Alzheimer’s.


TOPIC: Down Syndrome and Alzheimer's
REPORT: #3800

BACKGROUND: Down syndrome is caused when the nucleus of a cell has either a part of or a full extra copy of chromosome 21. The syndrome affects one in every 691 babies born in the U.S. which makes it the most common of all genetic defects. Approximately 400,000 Americans currently suffer from Down syndrome and 6,000 American babies are born with it each year. People with Down syndrome live on average 55 to 60 years, putting them at increased risk of developing early Alzheimer's. By the age of 40, people with Down syndrome have higher levels of plaques and tangles in the brain, which are commonly linked with Alzheimer's. (Sources:,
SYMPTOMS: Early symptoms of Alzheimer's in Down syndrome adults may include:
* Seizures that begin in adulthood
* Changes in coordination and walking
* Decline in ability to pay attention
If you'd like to share the facts of Alzheimer's disease, please visit to watch the Facts and Figures video, send information about the disease to a friend and learn more. The Alzheimer's Association also offers a 24/7 helpline that has helped millions. Since 2007, the helpline has received nearly two million calls, with a 48 percent increase in calls over the last four years and 300,000 coming in 2013 alone. The helpline can be reached at 1.800.272.3900. (Source:
MORE FROM DR. MICHAEL RAFFI: 50 percent of Down syndrome adults will go on to develop Alzheimer's disease in their 50's. By understanding more about beta amyloid, a precursor protein formed in the brain, doctors may be able to determine more effective treatments for Alzheimer's in patients with Down syndrome. The syndrome causes an overproduction of beta amyloid; therefore treatments that reduce this protein may help patients suffering from both Alzheimer's and Down syndrome. (Source: Dr. Michael Raffi)

Hannah Wishnek
Down Syndrome Research Center
Phone (858) 246-1300

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