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Thousands to take part in Alzheimer's study: Families offer DNA in hopes of finding cure for cruel disease

  [ 112 votes ]   [ Discuss This Article ] • March 23, 2004

By Dawn Fratangelo, Correspondent NBC News

Ten siblings belonging to the Weiss family may help unlock important scientific secrets. Six are still alive, including 89-year-old Helen Marinaro. Even so, her daughter, Brenda Goldfine, feels that a part of her mother is gone. “I tell her things about my children and my grandchildren and I know she’s not getting it,” says Goldfine. Just nine years ago at her grandson’s wedding, Marinaro was able to hold a microphone and tell him, “I love you and we’re having a heck of a good time here.” But today, at the doctor’s office with her daughter, when the doctor points to Goldfine and asks, “What’s her name?” Marinaro responds, “my sister Brenda.”

Marinaro has probable late-onset Alzheimer’s -- probable because a true diagnosis can only be made after death. She’s not alone. Two of her deceased siblings had the disease while her surviving brother, David, and sister, Anne, share the same diagnosis.

Search for genetic clues This entire extended family has become part of a nationwide study. One thousand families in all will be recruited in an effort researchers hope will yield critical clues to Alzheimer's. “When you see a family that has three or four people who have Alzheimer’s who are in their 80s, that’s a family we have to get a hold of because they can tell us a lot about the genetics of this disease," says Dr. Richard Mayeux of the Columbia University Medical Center.

Alzheimer's is a degenerative brain disease that usually begins gradually, causing a person to forget recent events or familiar tasks. How rapidly it advances varies from person to person, but the disease eventually leads to confusion, personality and behavior changes and impaired judgment. Communication becomes more difficult as the disease progresses, leaving those affected struggling to find words, finish thoughts or follow directions.

Eventually, most people with Alzheimer's disease become unable to care for themselves. One in 10 people over 65 and nearly half of those over 85 suffer from Alzheimer's disease. Today, 4 million Americans have the condition. That number could jump to 14 million by the year 2050 unless prevention methods are developed.

Scientists still are not certain of the disease's cause. Advancing age and family history are risk factors. Researchers are exploring the role of genetics in the disease, but most agree it's caused by a variety of factors. There is no single, comprehensive diagnostic test for Alzheimer's disease. Instead, doctors rule out other conditions through a process of elimination. They usually conduct physical, psychological and neurological exams and take a thorough medical history. Diagnosis is about 90 percent accurate, but the only way to confirm it is through autopsy.

There is no medical treatment currently available to cure or stop the progression of Alzheimer's disease. There are currently four FDA-approved Alzheimer's drugs -- Cognex, Aricept, Exelon and Reminyl -- that may temporarily relieve some symptoms of the disease. Several other drugs are in development. One defective gene has already been located, but researchers are certain more crucial ones can be found to identify and even treat those at risk.

While the exact cause of Alzheimer's is not yet known, some things are evident. Those who have a parent with late onset Alzheimer’s are twice as likely to get the disease and the more relatives affected, the greater the odds. Still, Goldfine remains upbeat. “I just remind my children that when I start acting more weirdly than they think I do now, that I’m not doing it to them, that it’s happening to me.”

But the genetic link may go on to affect her grown sons and even the next generation -- her grandchildren. Goldfine says her family is taking part in the study and offering their DNA in the hopes that their efforts may one day help find a cure for the cruel disease. “I’m hopeful we’ll be able to do something. I truly, truly am," says Goldfine. "(It's) in my genes. It’s part of my family.”

If you would like to learn more or get more involved in the study, contact: National Alzheimer's Disease Genetics Initiative (800) 526-2839, email: Source: MSNBC ( © 2004 MSNBC Interactive

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