NY Times (October 3, 2011)- For the Betancur family, it was a kind of pilgrimage, an act of faith in science.
In September, four family members traveled from Medellin, Colombia, to the Banner Alzheimer’s Institute in Phoenix, along with eight distant relatives. There are many more where they came from, about 5,000 — all members of the largest extended family linked to an inherited form of Alzheimer’s disease.
“There’s no words to describe seeing a loved one decay to the point where you no longer recognize them,” said Blanca Nelly Betancur, 43, whose mother and, so far, three siblings have inherited the disease. “To see them as a cadaver.”
Banner’s researchers and a Colombian neurologist are studying the extended family, planning a clinical trial to determine whether Alzheimer’s can be prevented by giving drug treatment years before dementia begins.
The Colombian relatives are considered ideal for testing preventive treatments, because scientists can tell which family members will develop Alzheimer’s and approximately when. Those getting the disease carry a genetic mutation causing memory loss in their early to mid-40s and often loss of most cognitive functions by their early 50s.
The trial is not expected to begin until 2012 because researchers are applying for federal financing and have not yet decided which drug to test. Testing will occur in the region where most relatives live, Antioquia, which includes Medellin and many isolated mountain villages.
But last month, 12 relatives visited Phoenix so scientists could conduct PET scans that can show whether their brains have the characteristic amyloid plaques of Alzheimer’s disease. Altogether, these scans will be performed on 50 family members this fall, some with Alzheimer’s already, some with the mutation that will cause it, and some who have no mutation and will not get the disease.
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