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Are you Genetically Predisposed to Alzheimer’s Disease?

I meet many people that worry they might be genetically predisposed to Alzheimer’s by birth. Some of them tell me they would like to know, others say they don’t want to know. As the number of people suffering from Alzheimer’s grows this is certain to become a major medical issue nationally.

Myriad Genetics has a genetic test for breast cancer. Their BRACAnalysis® assesses a woman’s risk of developing breast or ovarian cancer. BRACAnalysis is a genetic test that requires only a blood sample to determine whether a patient has a BRCA1 or BRCA2 gene mutation, indicating a predisposition to hereditary breast and ovarian cancer. The test is expensive but might be covered by insurance. Author note: I worked on the start-up financing for Myriad Genetics.

In a just released research study, researchers are looking at specific blood markers and may be able to detect a person’s predisposition to Alzheimer’s. This is exciting news. I know from personal experience with my mother that early detection is important and does effect outcomes. I am also aware of cases where families waited to take action and the result usually means a quicker onset of the debilitating disease. If you suspect Alzheimer’s or dementia you must take immediate action. If you had a severe chest pain you would call 9-1-1 wouldn’t you?


Related post Alzheimer’s Disease Genetics Study

Researchers Seeking to Identify Alzheimer’s Risk with New Biomarkers Make Significant Progress by Focusing on a Specific Blood Marker

Blood Test Could Give People Advance Warning of Disease, Allowing for Earlier Intervention

A simple blood test to detect whether a person might develop Alzheimer’s disease is within sight and could eventually help scientists in their quest toward reversing the disease’s onset in those likely to develop the debilitating neurological condition, Columbia University Medical Center researchers announced today.

Building on a study that started 20 years ago with an elderly population in Northern Manhattan at risk or in various stages of developing Alzheimer’s disease, the Columbia research group has yielded ground-breaking findings that could change the way the disease is treated or someday prevent it. These findings suggest that by looking at the blood doctors may be able to detect a person’s predisposition to developing the dementia-inducing disease that robs a person of their memory and ability carry out tasks essential to life.

Results presented online in the Proceedings of the National Academy of Sciences during the week of Sept. 8, 2008 suggest that individuals with elevated levels of a certain peptide in the blood plasma, Amyloid Beta 42 (Aß42), are at increased risk of developing Alzheimer’s disease and that the decline of Aß42 in the bloodstream may reflect the compartmentalization or “traffic jam” of Aß42 in the brain, which occurs in people with Alzheimer’s.

“To date, Aß42 levels have measured most reliably in the cerebrospinal fluid, which is more difficult to collect than blood,” said Nicole Schupf, Ph.D., Dr.P.H., associate professor of clinical epidemiology at Columbia University Medical Center and lead author of the paper. “Blood draws can be done with relative ease and greater frequency than spinal taps, which is typically the way cerebrospinal fluid is collected.”

In this study, researchers found that plasma levels of Aß42 appear to increase before the onset of Alzheimer’s disease and decline shortly after the onset of dementia. Researchers surmise that Aß42 may become trapped in the brain, which could account for the decrease in levels post-dementia.

The principal investigator on the Northern Manhattan study, Richard Mayeux, M.D., M.S., professor of neurology, psychiatry, and epidemiology, and co-director of the Taub Institute of Research on Alzheimer’s Disease and the Aging Brain at CUMC, likens the finding to something similar that is seen in heart attack patients, who typically have elevated lipid levels in their bloodstream prior to a heart attack, but post-heart attack lipid levels may decrease.

Using more specific antibodies developed by the Ravetch Laboratory at Rockefeller University, the researchers were able to hone in on the most detrimental form of amyloid compound, the protofibrillar form of Aß, according to Dr. Mayeux, who is the senior author of this paper.

While the cognitive impairments of Alzheimer’s can be monitored throughout the disease course, clinicians have had no reliable way to monitor the pathologic progression of the disease. Being able to reliably measure Aß levels in the blood could provide clinicians with a tool that forecasts the onset of Alzheimer’s much earlier. Earlier detection would of course be an important step in combating the disease, researchers said.

This research is supported by a Program Project Grant by the National Institutes’ of Health National Institute of Aging. Other authors on the paper from Columbia University Medical Center include Ming X. Tang, Ph.D., Jennifer Manly, Ph.D., and Howard Andrews, Ph.D. The Department of Immunology at the New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, also contributed to this research. An image of a brain tissue coated with amyloid plaque is available upon request, as is a copy of the PNAS paper.

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The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain at Columbia University Medical Center is a multidisciplinary group that has forged links between researchers and clinicians to uncover the causes of Alzheimer’s, Parkinson’s and other age-related brain diseases and discover ways to prevent and cure these diseases. Taub neuroscientists partner with researchers at the Gertrude H. Sergievsky Center at Columbia University Medical Center, which was established by an endowment in 1977 to focus on diseases of the nervous system. The Sergievsky Center integrates traditional epidemiology with genetic analysis and clinical investigation to explore all phases of diseases of the nervous system. For more information about these CUMC centers visit: http://www.cumc.columbia.edu/dept/taub/ or
http://www.cumc.columbia.edu/dept/sergievsky/.

Columbia University Medical Center provides international leadership in basic, pre-clinical and clinical research, in medical and health sciences education, and in patient care. The medical center trains future leaders and includes the dedicated work of many physicians, scientists, public health professionals, dentists, and nurses at the College of Physicians & Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions. Established in 1767, Columbia’s College of Physicians & Surgeons was the first institution in the country to grant the M.D. degree and is among the most selective medical schools in the country. Columbia University Medical Center is home to the largest medical research enterprise in New York City and state and one of the largest in the United States. For more information, please visit www.cumc.columbia.edu.

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Mental Test Spots Alzheimer’s Risk

Interesting article well worth reading.

The Everyday Cognition instrument consists of 39 questions to be answered by people who know the patient well.


Mental Test Spots Alzheimer’s Risk

A new questionnaire may help in both diagnosing older adults facing dementia and also in identifying individuals who need help with daily living.

The Everyday Cognition instrument consists of 39 questions to be answered by people who know the patient well.

“There have been a number of studies that show that people with mild cognitive impairment who have functional problems in addition to performing poorly on neuropsychological testing are more likely to progress in the near future,” said study author Sarah Tomaszewski Farias, an assistant professor of neurology at the University of California, Davis, Medical Center in Sacramento. “One of our hopes is that this instrument will be able to help identify very early on those people at increased risk for developing Alzheimer’s disease.”

That would help both patients and family members prepare for what lies ahead and identify patients who need to be more closely monitored.

In addition, Farias said, the test would also help identify “people who are having [functional] problems so that we know who needs help and who doesn’t.”

“What’s nice about this is that it is designed to pick up very early memory problems, and it’s an entirely caregiver-based survey,” said Dr. Scott Turner, incoming director of the Memory Disorders Program at Georgetown University Medical Center, in Washington, D.C. “This is something the caregiver can fill out, while the practitioner is looking at the patient. It could be used for screening, for diagnosis and for drug development, if you want to look for some proof that your drug is having some effect, so it has a lot of potential uses.”

“They want something that they could use to ask a family member about the potential patient’s everyday functioning to see if that’s sensitive to picking up the likelihood of dementia early on,” added Dr. Gary J. Kennedy, director of geriatric psychiatry at Montefiore Medical Center in New York City.

The findings were published in the July issue of Neuropsychology.

Existing neuropsychological tests tend to be very abstract. For the last 40 years, these tests have looked at two categories: so-called “basic” activities (such as grooming, feeding, dressing), which are affected in later stages of dementia, and “instrumental” activities of daily living (such as managing medication, finances, cooking, driving).

“I was interested in understanding how our neuropsychology tests translated into everyday problems, how our cognitive tests . . . translate into everyday problems that a person is experiencing and that a caregiver is concerned about,” Farias explained.

Farias and her colleagues divided everyday functioning into seven cognitive “domains:” memory, language, semantic or factual knowledge, visual and spatial abilities, planning, organization and divided attention.

An original list of 138 items was eventually culled to 39, which was then tested in 576 older adults: 174 of whom were cognitively normal, 126 who had mild cognitive impairment (MCI), and 276 who had been diagnosed with dementia.

“Informants” (people who had known the patient for an average of almost 45 years) provided details on whether the patient could remember shopping items without a list, reading a map, balancing the checkbook, and cooking or working and talking at the same time.

Not only did the instrument confirm established diagnoses, it was also able to distinguish people with MCI from those with full-blown dementia, meaning it was able to pick up on subtle differences in function.

The results also weren’t highly influenced by occupation and education levels, as are existing tests.

“This is really the first step in development the instrument,” Farias said. “What we’re really interested in doing is to track people over time to get a better understanding of the early signs of functional impairment.”

 
 
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