For Alzheimer’s, Detection Advances Outpace Treatment Options

Joshua Lott for The New York Times

Awilda Jimenez got a scan for Alzheimer’s after she started forgetting things. It was positive.

Published: November 15, 2012 24 Comments

When Awilda Jimenez started forgetting things last year, her husband, Edwin, felt a shiver of dread. Her mother had developedAlzheimer’s in her 50s. Could his wife, 61, have it, too?

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He learned there was a new brain scan to diagnose the disease and nervously agreed to get her one, secretly hoping it would lay his fears to rest. In June, his wife became what her doctor says is the first private patient in Arizona to have the test.

“The scan was floridly positive,” said her doctor, Adam S. Fleisher, director of brain imaging at the Banner Alzheimer’s Institute in Phoenix.

The Jimenezes have struggled ever since to deal with this devastating news. They are confronting a problem of the new era of Alzheimer’s research: The ability to detect the disease has leapt far ahead of treatments. There are none that can stop or even significantly slow the inexorable progression to dementia and death.

“I was hoping the scan would be negative,” Mr. Jimenez said. “When I found out it was positive, my heart sank.”

The new brain scan technology, which went on the market in June, is spreading fast. There are already more than 300 hospitals and imaging centers, located in most major metropolitan areas, that are ready to perform the scans, according to Eli Lilly, which sells the tracer used to mark plaque for the scan.

The scans show plaques in the brain — barnaclelike clumps of protein, beta amyloid — that, together with dementia, are the defining feature of Alzheimer’s disease. Those who have dementia but do not have excessive plaques do not have Alzheimer’s. It is no longer necessary to wait until the person dies and has an autopsy to learn if the brain was studded with plaques.

Many insurers, including Medicare, will not yet pay for the new scans, which cost several thousand dollars. And getting one comes with serious risks. While federal law prevents insurers and employers from discriminating based on genetic tests, it does not apply to scans. People with brain plaques can be denied long-term care insurance.

The Food and Drug Administration, worried about interpretations of the scans, has required something new: Doctors must take a test showing they can read them accurately before they begin doing them. So far, 700 doctors have qualified, according to Eli Lilly. Other kinds of diagnostic scans have no such requirement.

In another unusual feature, the F.D.A. requires that radiologists not be told anything about the patient. They are generally trained to incorporate clinical information into their interpretation of other types of scans, said Dr. R. Dwaine Rieves, director of the drug agency’s Division of Medical Imaging Products.

But in this case, clinical information may lead radiologists to inadvertently shade their reports to coincide with what doctors suspect is the underlying disease. With Alzheimer’s, Dr. Rieves said, “clinical impressions have been misleading.”

“This is a big change in the world of image interpretation,” he said.

Like some other Alzheimer’s experts, Dr. Fleisher used the amyloid scan for several years as part of a research study that led to its F.D.A. approval. Subjects were not told what the scans showed. Now, with the scan on the market, the rules have changed.

At Mount Sinai Medical Center in New York, Dr. Samuel E. Gandy found that his patients — mostly affluent — were unfazed by the medical center’s $3,750 price for the scan. He has been ordering at least one a week for people with symptoms ambiguous enough to suggest the possibility of brain plaques.

Most of his patients want their names kept confidential, fearing an inability to get long-term care insurance, or just wanting privacy.

A woman from New Zealand was told by one doctor that she had Alzheimer’s and by another that she had frontotemporal dementia, a rare brain disease that strikes people at younger ages than Alzheimer’s and progresses faster. She had a scan. The result was clear — no significant accumulation of plaques. She had frontotemporal dementia. Unfortunately, Dr. Gandy said, there was nothing he could offer her, not even a clinical drug trial.

A man given a diagnosis of Parkinson’s disease was totally immobile and demented. Could he have had Alzheimer’s all along?

A scan showed he did.

Dr. Gandy’s first patient, Alexander Dreyfoos, an 80-year-old electronics engineer and businessman, was one of the very few willing to be open about his experience. He is independently wealthy and was not worried about privacy or insurance.

But he was very worried about Alzheimer’s. His mother, who died at age 79, had it. “I watched her deteriorate to the point where she couldn’t even recognize me,” Mr. Dreyfoos said. And he had begun seeing signs that his memory was slipping.

“A few years ago, I realized I wasn’t at the top of my game,” he said.

Mr. Dreyfoos had his DNA sequenced by a commercial company and learned that he had a gene, ApoE4, that increases the risk of Alzheimer’s. At Massachusetts General Hospital, he learned he had shrinkage of his brain — typical of Alzheimer’s. After doctors tested his memory and reasoning, he said, they told him he was right to worry.

Finally, Mr. Dreyfoos went to Dr. Gandy at Mount Sinai, looking for an experimental treatment for the Alzheimer’s he was sure he had. Dr. Gandy also suspected he had the disease, but suggested a scan.

The scan did not show an abnormal accumulation of amyloid. As far as Dr. Gandy is concerned, Mr. Dreyfoos does not have Alzheimer’s.

Mr. Dreyfoos was surprised, “wonderfully so,” he said.

Dr. Gandy said that as many as 30 percent of people who seem to have Alzheimer’s turn out not to have it when they get the scan. But those who get bad news struggle to cope.

Desperate to slow the progression of his wife’s disease, Mr. Jimenez is now giving her turmeric, coenzyme Q10, astaxanthin, krill oil, ginkgo biloba and coconut oil — remedies he found on the Internet. There is no good evidence they work, and each costs about $5 to $15 a month. But, Mr. Jimenez says: “What am I going to do? People feel so helpless with this disease that they are willing to try anything.”

He worries about the future and how they will survive financially. He wonders if it might have been better not to know the diagnosis.

“It is financially, emotionally and spiritually draining,” Mr. Jimenez said. “Everything hangs by a thread.
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Alzheimer’s Precursors Evident in Brain at Early Age

Scientists studying Alzheimer’s disease are increasingly finding clues that the brain begins to deteriorate years before a person shows symptoms of dementia.

Now, research on a large extended family of 5,000 people in Colombiawith a genetically driven form of Alzheimer’s has found evidence that the precursors of the disease begin even earlier than previously thought, and that this early brain deterioration occurs in more ways than has been documented before.

The studies, published this month in the journal Lancet Neurology, found that the brains of people destined to develop Alzheimer’s clearly show changes at least 20 years before they have any cognitive impairment. In the Colombian family, researchers saw these changes in people ages 18 to 26; on average, members of this family develop symptoms of mild cognitive impairment at 45 and of dementia at 53.

These brain changes occur earlier than the first signs of plaques made from a protein called beta amyloid or a-beta, a hallmark of Alzheimer’s. Researchers detected higher-than-normal levels of amyloid in the spinal fluid of these young adults. They found suggestions that memory-encoding parts of the brain were already working harder than in normal brains. And they identified indications that brain areas known to be affected by Alzheimer’s may be smaller than in those who do not have the Alzheimer’s gene.

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