Link Between Down Syndrome and Alzheimer's Disease

Published 07/14 2014 02:23PM

Updated 07/14 2014 05:35PM

More than five million Americans are living with Alzheimer’s. More than 400,000 of them also have Down syndrome. What does a condition seen at birth have in common with a disease typically diagnosed in the elderly? Quite a bit!

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.” Jonathan said.

Jerry Shirley, his dad, says Jonathan’s always finding ways to help others. “Jonathan is an amazing guy. He’s been an inspiration.” He said.

Shirley is now helping doctors at the University of California 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.” Dr. Michael Rafii, MD, PhD, neurologist at UCSD said.

As part of a clinical trial, Dr. Rafii has found Down syndrome brains look very much like Alzheimer’s brains. Both have higher levels of the protein beta amyloid. Down syndrome patients develop the protein at double the rate.

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

61 year old Lisa Goldberg has Down syndrome and her sister says she is now showing some signs of dementia also. “Something that happened five minutes ago, it’s hit or miss whether she recalls.”  April Hinson, Goldberg’s sister said.

Goldberg still works and doesn’t let her disability get in her way. And Shirley agrees, saying, “We are all special in our own way.”
It just may be that Down patients like Shirley and Goldberg hold the key to finding the answer to Alzheimer’s.

Dr. Raffi’s research is now focusing on how somebody can have amyloid plaques in their brain and have full dementia, whereas someone else has the same amyloid plaque but no dementia.  Rafii believes there is something some patients have in their brains that makes them resilient to it.

Copyright 2016 Nexstar Broadcasting, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.

Top Videos