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May 22, 2011
A family in Colombia, who has early Alzheimer's, hereditary, participates in a trial of new drugs that doctors hope could lead to a cure for patients worldwide.
Johnhaider, sitting in a wheelchair, his legs moving and is compulsively stare. Can no longer speak. Do not know where he is and does not recognize his sister Patricia.
Johnhaider is in the final stages of Alzheimer's disease-the most common form of dementia.
Is only 53 years (most patients in the same terminal stage of the disease are older than 60) and is a member of a Colombian family, half of whom contract the disease of Alzheimer's at an early age, according to medical researchers who have closely followed the onset of illness in the family.
Now there is hope that research on this family, which have been described by one scientist as a "natural laboratory" - will help accelerate the discovery of a cure for this devastating disease.
Currently the clan is made up of about 5,000 people scattered in remote hunting in the Andes mountains surrounding the northern city of Medellin. All are descendants of a family of Basque origin, who settled there in the early eighteenth century.
The man who discovered the cruel history of this family is Dr. Francisco Lopera, behavioral neurologist at the University of Antioquia.
Lopez came across this phenomenon in the early eighties.
"I saw a man of 47 with dementia that was very similar to Alzheimer's disease. It was strange because he was very young," he said.
Then, Lopez learned that the man's father, grandfather and several siblings had also suffered from dementia.
"I saw three generations affected, and in each generation, half of the children were affected. Was hereditary."
Lopez and his small team of university toured the region, despite the presence in the area of drug traffickers and rebels from the Revolutionary Armed Forces of Colombia (FARC).
In late 1980, had assembled a family tree dating back nearly 300 years, large enough to cover the wall of an auditorium.
It took another decade to isolate the cause: A gene thought to trigger the early onset of the disease.
If a parent has the gene, there is a 50% chance that your children will have. Half of the Colombian family members carry the gene, called "mutation paisa.
The rare "mutation paisa" present in the isolated town attracted scientists from the Banner of Phoenix, Arizona, a world leader in dementia research.
The neurologist at the institute, Adam Fleisher, said that Alzheimer's is like "a pandemic is coming."
With life expectancy increasing and the number of patients with dementia rising exponentially, the disease has the potential to devastate public health systems in developed countries, he said.
"The truth is that going to affect us all and our ability to obtain medical care, have Alzheimer's disease or not. We must find a cure," said Fleisher.
Banner Institute scientists provide the family drugs that are designed to target the neural plate that accumulates in the brains of all Alzheimer's patients.
The adhesive-plate type of chewing gum, is caused by a malfunction which causes a protein no longer occurs starch, called amyloid.
The hope is that through the use of experimental drugs, the growth of the amyloid plaque is inhibited before it reaches the disease.
The Colombian family gives the opportunity for researchers to work with healthy before developing dementia.
After lumbar injections, brain scans and other techniques, it will monitor and measure the results in those receiving the drug and those receiving a placebo.
The hope is that the resources in place, testing can begin in late 2012.
If the family is delayed onset of Alzheimer's disease, or stops, then researchers would have reached the mother lode - a potential cure for patients worldwide.
But that's still just a big possibility.
Nobody knows yet whether the amyloid plaque is the cause or an effect of Alzheimer's disease. Jose Arboleda, a Harvard researcher who works with Lopez, says the experiment will test this hypothesis.
It is possible that the drugs inhibit the brain plate, however, the family continue to develop dementia. Such results would be devastating to the current investigation.
"It would be a huge setback for everyone," says Arboleda. "Patients, scientists ... This is the best we have. If it fails we would all be in trouble," he said.
For the family, however, the burden of medical care, the terrible knowledge that half of them the disease is inevitable and that the "mutation paisa" airs half of their children is much greater than the risk of experimenting with unproven drugs.
Johnhaider was in the middle of his forty years old when the symptoms started. By then his mother had died of the disease. She also had begun to show symptoms when I was a little over 40 years of age.
Johnhaider's sister, Patricia, do not know if she carries the gene. At 49, and with no obvious symptoms, is hopeful but concerned. And she is willing to be part of the experiment.
"I have no choice," she says as she settles gently thin blanket covering the legs of his brother.
"I'm a little worried," says Patricia. "But I want to participate in this, for me, my family and for the rest of the world."