What sort of diagnostics have been, and are, used to diagnose dementia in general and specifically Alzheimer’s? How effective and useful are they in enabling early treatment of the disease?
The bottom line is that we most commonly arrive upon an Alzheimer’s diagnosis when the individual is showing very clear signs, and as a result, we have been missing the opportunity to treat and slow the progress for the last 10, 15, even 20 years before the more extreme symptoms manifest.
The diagnosis process is most commonly long, drawn-out, and not definitive for a very, very long time. It usually starts with your GP Doctor and gets started earlier if you bring up the concern.
What if we could detect Alzheimer’s 10-20 years earlier with a process as simple as a blood test?
Let’s review the process today, starting with your doctor and your medical history, and then we can discuss the latest advances.
Medical History
During the medical workup, your health care provider will review your medical history, including psychiatric history and history of cognitive and behavioral changes. He or she will want to know about any current and past illnesses, as well as any medications you are taking. The doctor will also ask about key medical conditions affecting other family members, including whether they may have had Alzheimer’s disease or other dementias.
During a medical workup, you can expect the physician to:
- Ask about diet, nutrition and use of alcohol.
- Review all medications. (Bring a list or the containers of all medicines currently being taken, including over-the-counter drugs and supplements.)
- Check blood pressure, temperature and pulse.
- Listen to the heart and lungs.
- Perform other procedures to assess overall health.
- Collect blood or urine samples for laboratory testing.
Information from a physical exam and laboratory tests can help identify health issues that can cause symptoms of dementia. Common causes of dementia-like symptoms are depression, untreated sleep apnea, delirium, side effects of medications, thyroid problems, certain vitamin deficiencies and excessive alcohol consumption. Unlike Alzheimer’s and other dementias, these conditions often may be reversed with treatment.
If you are concerned about the possibility of dementia and bring this up with your doctor, then be prepared for the following sort of questions:
- What kind of symptoms have you noticed?
- When did they begin?
- How often do they happen?
- Have they gotten worse?
The doctor may also ask a family member to provide input about changes in your thinking skills and behavior. Use our Doctor Visit Checklist (PDF) to get ready for your appointment.
Alzheimer’s is not something that happens overnight, it can take 10-20 years for any of the more common and noticeable symptoms to appear. There are many risk factors that you should be aware of, as these compound their effect and conspire together to greatly increase your risk of Alzheimer’s.
This is the list of critical risk factors, most of which can be controlled fairly easily, other than age and genetics.
- Genetics
- Age
- Inadequate sleep
- Stress
- Environmental and dietary toxicants
- Sugars and food with a high glycemic index
- Smoking and tobacco use
- Alcohol
- Inflammatory food intake
- Insulin resistance
You can give yourself an honest assessment regarding these risk factors. Learn more in our article, Is Alzheimer’s an Inevitability.
Neurological Exam
During a neurological exam, the physician will closely evaluate the person for problems that may signal brain disorders other than Alzheimer’s. The doctor will look for signs of small or large strokes, Parkinson’s disease, brain tumors, fluid accumulation on the brain, and other illnesses that may impair memory or thinking.
The physician will test:
If the evaluation does not indicate Alzheimer’s disease or another dementia, but the symptoms continue to get worse over time, your doctor may need to order more tests, or you may wish to get a second opinion.
- Reflexes.
- Coordination, muscle tone and strength.
- Eye movement.
- Speech.
- Sensation.
The neurological exam may also include a brain imaging study.
Mental Status Tests
Mental status testing evaluates memory, ability to solve simple problems and other thinking skills. Such tests give an overall sense of whether a person:
- Is aware of symptoms.
- Knows the date, time, and where he or she is.
- Can remember a short list of words, follow instructions and do simple calculations.
Mini-Mental State Exam (MMSE) and the Mini-Cog Test
The MMSE and Mini-Cog test are two commonly used assessments. During the MMSE, a health professional asks a patient a series of questions designed to test a range of everyday mental skills. The maximum MMSE score is 30 points. A score of 20 to 24 suggests mild dementia, 13 to 20 suggests moderate dementia, and less than 12 indicates severe dementia. On average, the MMSE score of a person with Alzheimer’s declines about two to four points each year.
During the Mini-Cog, a person is asked to complete two tasks:
- Remember and a few minutes later repeat the names of three common objects.
- Draw a face of a clock showing all 12 numbers in the right places and a time specified by the examiner.
The results of this brief test can help a physician determine if further evaluation is needed.
Computerized Tests Cleared by the FDA
A growing area of research is the development of devices to administer computer-based tests of thinking, learning and memory, called cognitive tests.
The U.S. Food and Drug Administration (FDA) has cleared several computerized cognitive testing devices for marketing. These are the Cantab Mobile, Cognigram, Cognivue, Cognision and Automated Neuropsychological Assessment Metrics (ANAM) devices.
Some physicians use computer-based tests such as these in addition to the MMSE and Mini-Cog. Computerized tests have several advantages, including giving tests exactly the same way each time. Using both clinical tests and computer-based tests can give physicians a clearer understanding of cognitive difficulties experienced by patients.
Mood Assessment
In addition to assessing mental status, the doctor will evaluate a person’s sense of well-being to detect depression or other mood disorders that can cause memory problems, loss of interest in life, and other symptoms that can overlap with dementia.
Brain Imaging
A standard medical workup for Alzheimer’s disease often includes structural imaging with magnetic resonance imaging (MRI) or computed tomography (CT). These tests are primarily used to rule out other conditions that may cause symptoms similar to Alzheimer’s but require different treatment. Structural imaging can reveal tumors, evidence of small or large strokes, damage from severe head trauma, or a buildup of fluid in the brain.
In some circumstances, a doctor may use brain imaging tools to find out if the individual has high levels of beta-amyloid, a hallmark of Alzheimer’s; normal levels would suggest Alzheimer’s is not the cause of dementia.
Imaging technologies have revolutionized our understanding of the structure and function of the living brain. Researchers are studying other brain imaging techniques so they can better diagnose and track the progress of Alzheimer’s.
Genetic Testing
Researchers have identified certain genes that increase the risk of developing Alzheimer’s and other rare “deterministic” genes that directly cause Alzheimer’s. Although genetic tests are available for some of these genes, health professionals do not currently recommend routine genetic testing for Alzheimer’s disease. This test is performed by taking a spinal fluid sample via a spinal tap.
Risk genes: While there is a blood test for APOE-e4, the strongest risk gene for Alzheimer’s, this test is mainly used in clinical trials to identify people at higher risk of developing Alzheimer’s. Carrying this gene mutation only indicates a greater risk; it does not indicate whether a person will develop Alzheimer’s or whether a person has Alzheimer’s. Genetic testing for APOE-e4 is controversial and should only be undertaken after discussion with a physician or genetic counselor.
Deterministic genes: Testing also is available for genes that cause autosomal dominant Alzheimer’s disease (ADAD) or “familial Alzheimer’s,” a rare form of Alzheimer’s that accounts for 1 percent or less of all cases. ADAD runs strongly in families and tends to begin earlier in life, sometimes as early as one’s 30s. Many people in these families do not wish to know their genetic status, but some get tested to learn whether they will eventually develop the disease. Some ADAD families have joined clinical studies to help researchers better understand Alzheimer’s.
Learn more: Genetic Testing Fact Sheet (PDF) and Genetics and Alzheimer’s.
Isn’t there a Better Approach?
So, to date, tests have either been too expensive or invasive to warrant testing before serious symtoms begin to show. Although the disorder is not reversible, early treatment may help preserve daily functioning for some time. Early diagnosis would also enable testing of novel drugs and other treatment approaches. However, PET imaging is expensive and involves radioactive agents, and spinal fluid tests are invasive, complex, and time-consuming. Researchers are looking for simpler, more cost-effective tests.
A team led by Dr. Adam Boxer at the University of California, San Francisco investigated whether a new blood-testing technique called Simoa could be used to measure the concentrations of tau and predict the development of Alzheimer’s disease. The study was funded in part by NIH’s National Institute on Aging (NIA), National Institute of Neurological Disorders and Stroke (NINDS), and National Center for Advancing Translational Sciences (NCATS). Results were published online on March 2, 2020, in Nature Medicine.
The team collected blood samples from more than 400 people. They measured the concentration of ptau181—a modified version of tau that has been linked with Alzheimer’s disease—in blood plasma, the liquid part of blood. Their analysis showed that the ptau181 in plasma differed between healthy participants and those with Alzheimer’s pathology confirmed in autopsies. The test could also differentiate Alzheimer’s pathology from a group of rare neurodegenerative diseases known collectively as frontotemporal lobar degeneration.
The results with the plasma ptau181 test also mirrored results with two established biomarker tests for Alzheimer’s—a spinal fluid ptau181 test and a PET brain scan for beta-amyloid protein.
The Bottom Line
The bottom line is that in just a couple of years, we may have a blood test that can feasibly be performed for anybody at any time, and therefore provide for very early detection of Alzheimer’s. And as we mention earlier, even though we do not have a cure, and certainly no way to reverse the damage resulting from this disease, we can perform treatments to help slow its progression.,L
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