Also known as "the long goodbye," Alzheimer's isn't always a disease for the old. For a small number of individuals, it strikes while they are in the prime of life — sometimes as early as their 30s.
Early onset Alzheimer's disease, designated by its incidence under the age of 60, afflicts about 200,000 Americans or about 5 percent of the estimated four million who suffer from AD.
ABCNEWS asked several Alzheimer's experts to discuss early onset Alzheimer's detection and diagnosis as well as the challenges that those diagnosed with the disease may face.
How is early onset Alzheimer's diagnosed?
The diagnosis of dementia is the same as in the late form of AD. This involves ruling out other forms of dementia and diseases that cause secondary dementia (brain tumor, for example). Imaging has assisted the diagnosis. Inherited forms of AD can be detected by genetic testing. — Dr. Sid Gilman, William J. Herdman professor and chair of the department of neurology at the University of Michigan in Ann Arbor.
What role does genetics play in early onset Alzheimer's?
There's a lot of focus on the genetic angle because there are now three known genes that are mutated in some families, leading to the occurrence of early-onset AD. These genes are enormously important because we know what they are and, to some degree now, what they do. So this gives us important clues to how the disease develops. But the mutations are rare! There are almost certainly other genes, as yet unknown, that can cause early onset AD in some families. The problem is, they are probably even more rare than the ones that are known, so it's even harder to find them. — Dr. John C. S. Breitner, professor and head, of the division of geriatric psychiatry at the University of Washington School of Medicine in Seattle.
Are there any challenges to detecting early onset Alzheimer's?
Unless there is a strong family history — present in probably no more than half of these cases — the disease is somewhat harder to diagnose. Unlike late-onset AD, which is the predominant form of late-life dementia, early-onset AD is only one of many causes of dementia in middle life or before. All are rare, so one can't rely on such dictums as 'if it's dementia, its Alzheimer's disease until proven otherwise.' — Dr. John C. S. Breitner, professor and head, of the division of geriatric psychiatry at the University of Washington School of Medicine in Seattle.
What medications are currently available to treat Alzheimer's sufferers? How do they work?
The two big ones are Aricept and Exelon. Those are the two most widely prescribed ones. The chemical in the brain that is used for learning and memory is called Acetylcholine and the nerve cells produce it and then transmit it amongst each other to create circuitry for learning and memory. Therefore we call it a neurotransmitter. In Alzheimer's many of the neurons that die are those that are involved in the transmission of Acetylcholine. The idea that is if you have less Acetylcholine around because you have less nerve cells around to make it, you try to preserve what you got. The mechanism of these drugs is to block the [enzyme that breaks down] Acetylcholine so as to preserve what you have left. — Rudolph E. Tanzi, director of the Genetics and Aging Research Unit at Massachusetts General Hospital in Boston, Mass. and author of Decoding Darkness: The Search for the Genetic Causes of Alzheimer's Disease.
What special challenges do individuals and families face when given an early onset Alzheimer's diagnosis?
I think the biggest challenge is that fact that they tend to get the disease at an early stage. And if they know that they have early onset AD, it affects the whole family. It affects the children, siblings — because they are all worried that they will get the disease. But the other side is that the earlier they are diagnosed, the more time they will have to be able to put their life order. — Dr. Zaven Khachaturian, former director of Alzheimer's Research at the National Institutes of Health and Senior Advisor to the Chicago, Ill-based Alzheimer's Association.
Are there any resources available to help those who receive such a diagnosis cope and manage their personal affairs?
The Alzheimer's Association maintains a nationwide network of chapters and support groups for the affected individuals and for the members of their families. The National Institute on Aging supports a national network of Alzheimer Disease Clinical and Research Centers, all of which provide community outreach, education and support. — Dr. Sam Gandy, director of the Farber Institute for Neurosciences at Thomas Jefferson University in Philadelphia, Pa..