Predicting the Course of Alzheimer's

Jon Braud takes life in small steps.

He gets up every morning and watches Dan Patrick. He plays Hanging with Friends on his iPad. He takes out the trash if his wife gives him specific instructions on how to do it. But he can't mow the lawn anymore, or figure out how to use a can opener.

Braud is 43 years old. He has Alzheimer's disease.

Cindi Braud remembers well the date when her husband was diagnosed: May 29, 2009. For her, it was a devastating revelation. "The first year of his diagnosis, I literally called every single drug trial in this country," she said. "Everyone said, 'I am so sorry for his diagnosis, but he's too young for our study.'"

What they did learn from doctors was that Jon has a very rare form of Alzheimer's that is genetically transmitted. Parents have a 50-50 chance of passing the gene to any of their children. If children inherit the gene, they will invariably get the disease.

This form of Alzheimer's also develops much earlier; Jon's father died at 45 of the disease, and his grandmother died at 51.

Three years ago, Cindi Braud's search finally led her to a group studying precisely this form of Alzheimer's, and researchers are now following her husband, tracking his progression through the disease.

Thanks in large part to Alzheimer's patients like Jon Braud and their family members, researchers can study this form of the disease as part of the Dominantly Inherited Alzheimer's Network, or DIAN. On Wednesday, Dr. Randall Bateman and his colleagues at Washington University-St. Louis School of Medicine reported the first data from this study in the current issue of the New England Journal of Medicine, shedding new light on the timeline by which changes in the body of these patients occur, from the increase in abnormal proteins to abnormal brain scans, as well as mental dysfunction.

What this means is that now, for the first time, scientists and doctors have a clear picture of when different changes in the body come along, presenting tantalizing targets for drug research, which can be aimed at patients who have not yet developed symptoms.

Many Alzheimer's researchers say this is a big deal. ABC News heard from three dozen experts in the field; nearly half believed that the findings released today represent are landmark.

"[The new data] are significant in planning primary prevention trials, meaning starting a drug before any detectable disease [develops]," said Dr. Samuel Gandy, associate director at the Mount Sinai Alzheimer's Disease Research Center in New York.

Others were more circumspect. They pointed out that while this study represents important research, some of its findings had been presented before in other forms, although not with this level of clarity.

Dr. Murali Doraiswamy, a professor and head of the Division of Biological Psychiatry at the Duke University School of Medicine, stopped short of calling the study landmark. But he did say that he believed it would open the door to new ways of treating Alzheimer's and its progression.

"This represents incredible modeling of the baseline data," Doraiswamy said. "Everyone developing a diagnostic test in the Alzheimer's field is going to be poring over these results."

Dr. Anton Porsteinsson, a geriatric psychiatrist at the University of Rochester Medical Center, says that for experts in the field, the data released today "brings together findings that up until now we have been patching together."

Nearly all the experts contacted pointed out that while the data are valuable, the data come with an important caveat: The overwhelming majority of patients with Alzheimer's disease have the sporadic form, which is not directly inherited in the same way the familial form is. But this terrible fact has one advantage for researchers: They can study patients they know will get Alzheimer's disease, long before they show symptoms.

Knowing that the gene is a guarantee for the disease and that it can be passed along to children presented Jon Braud and his wife with an awful dilemma. They'd been married two years before Jon was diagnosed, and were planning to have children until the devastating news hit. Cindi, a casino worker in Louisiana, said she was not willing to bet on the Alzheimer's fate of their children.

"When you play roulette, do you put money on red or black?" she asked, referring to the 50 percent chance that their children would have of developing the disease. "That's not a wager I want to make: a wager on a life."

Regardless of whether they agree that this single study represents a true landmark in Alzheimer's research, most experts agree that the DIAN registry has the potential to provide a previously unseen look into the profile and progression of a disease that has proved incredibly difficult to study since so many of the bodily changes happen long before a person displays any symptoms. Some even compared it to the Framingham study, a landmark effort begun in 1948 that has led to much of our current medical knowledge about heart disease and its risk factors.

It's this potential that seems most appealing to experts in the field, regardless of whether they believe the data released today represents a true landmark occurrence.

"The Bateman study is like discovering the first gold coin on a sunken ship that signals a huge treasure trove," Duke's Doraiswamy said.

Also Read

Source: http://news.yahoo.com/predicting-course-alzheimers-170204199--abc-news-wellness.html

branson mo monkees songs danica patrick school closings top chef texas rail gun harrisburg