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.