The Hospice Foundation of America estimates that there are some four and a half million Americans stricken with Alzheimer’s Disease (Doka 1). The Alzheimer’s Association however puts this number closer to 5.2 million, with statistics that claim that 1 out of every 8 persons over the age of 65 suffers from this genetic disorder and someone else is diagnosed with the condition every 71 seconds. Though it is true that Alzheimer’s seems to strike more women than men, more African-Americans than Caucasians, and those who have less education versus those with higher education, in reality the disease knows no gender or ethnicity and could care less about environment or social classes.
Alzheimer’s Disease is devastating, progressive and irreversible. It can take away years of memories, a lifetime of language, and the very identity of its victim. It is the third most costly disease behind only heart disease and cancer, placing a burden on our health care system in excess of 100 billion dollars each year (Coste xi). As many as eighty percent of those diagnosed with dementia, are also given a diagnoses of Alzheimer’s, making it the most common cause of the mental state. It is also the 7th leading cause of death among the nations population (Ham)
Patients with Alzheimer’s lose motor functions and mental capacities making them unable to speak coherently, make sound judgments or execute physical tasks. They may have difficulty swallowing. Many don’t recognize people, objects or surroundings which can lead to unsafe wandering and socially inappropriate behavior.
The specifics for what makes a person susceptible to Alzheimer’s Disease is still unknown, though scientists believe that multiple factors are at fault, rather than one single cause (Rabins 23).
In 1901, Dr. Alois Alzheimer, a physician in Germany was asked to take the case of 51 year old Aguste D. This wife and mother had begun to exhibit signs of mental deficiencies, including extreme paranoia, memory loss and difficulty speaking and understanding what was being said to her. Her conditions deteriorated quickly, and within months she was completely bedridden, requiring 24-7 care. When Aguste died in the Spring of 1906, Dr. Alzheimer asked for permission to perform an autopsy.
What he found was severe shrinkage in the outer cortex, the part of the brain involved in memory development. There was widespread fatty deposits in the small blood vessels as well as dead and dying cells with abnormal deposits in and around those cells (Doka). In November of that year, Dr. Alzheimer presented his findings to a scientific meeting and in 1907 he published the data in medical literature. It wasn’t until 1910 that Dr. Erick Kraepelin; a psychiatrist who is most noted for his work in classifying brain disorders; suggested that the disease be named after the physician who discovered it.
In the last 100 years, advancements in the research has gone way beyond Dr. Alzheimer’s simple autopsy. Unfortunately, that research does not include a cure, though there are strides being made in that direction. The FDA has now approved five drugs that will slow the symptoms for half of the patients who take them for 6-12 months. Clinical studies are in various stages with human volunteers as their subjects. So what have we learned?
A healthy adult brain has 100 billion nerve cells or neurons, with extensions branching out to 100 trillion different points. At these connections known as synapses, information flows in tiny chemical pulses released on the neurons and then picked up by the receiving cells. Each has it’s own strength and pattern of signals. These move constantly through the brain creating memories, thoughts and skills.
In Alzheimer’s patients, the transfers at the synapses breaks down and begins to fail. Over time, these pulses decline, and eventually the cells die. In a brain with advanced Alzheimer’s Disease, there is a massive shrinkage from cell loss and much debris from dead or dying neurons. There is also evidence of inflammation and high oxidation in the cells metabolism.
The materials that Dr. Alzheimer saw during Aguste’s autopsy have since been identified as twists of tiny protein fragments of Beta Amyloid which accumulate among neurons as plaque. This blockage is believed to be what causes the break down in the synapses. In addition, there are tangled strands of the protein Tau inside the dead and dying cells. Though most of us develop the twists and tangles as we age, those with Alzheimer’s Disease tend to develop far more.
One of my favorite books/movies is “The Notebook” Before Allie Calhoun succumbs to the dementia of her Alzheimer’s Disease, she writes in a notebook, the love story of she and husband Noah.
She gives it to him with instructions to read it to her on the days she can’t remember. You can’t help but share in the joy as she realizes that the story is about her and then her mind comes out of the dark and she recognizes an aging Noah. Then your heart falls to pieces when the shutter closes once again. Allie gets agitated and fearful when she doesn’t recognize anyone or anything. What I found in my research is that the saga that Nicholas Sparks wove into the book is one that millions of families face every day while dealing with Alzheimer’s patients.
Testing to diagnose Alzheimer’s begins with a physician gathering a comprehensive medical and family history. He/she will test mental status asking questions to determine if the patient knows the time, date and where they are. The patient will be asked to follow simple instructions or recall a short list of words after several minutes have passed.
Because there is no single test to prove Alzheimer’s, a set of neurological tests will be performed to check reflexes, coordination and balance. Eye movement, speech and sensation, muscle tone and strength are also measured.
There are three specific imaging techniques that can be used to help diagnose Alzheimer’s.
Structural information such as shape, position or volume of the brain tissue can be found by performing an MRI (Magnetic Resonance Imaging) or a Computed Tomography (CT scan). The physician may also choose to do a functional MRI or a PET scan (Positron Emission Tomography. These tests will reveal how cells in each region of the brain are working to use sugar or oxygen.
A new route to detection is a home screening test that many health care facilities are marketing for early dementia diagnosis. However, most physicians and the Alzheimer’s Association are not endorsing this process, believing that it can cause undue stress with families when patients are misdiagnosed.
SIGNIFICANCE TO THE FIELD OF GENETICS
As was mentioned earlier in this paper, there is no cure for Alzheimer’s Disease at this point in time. Research is being done by many different facilities to change this fact. Despite the lack of a cure, many strides have been made in drug therapy, early detection, patient care and family education. This research is being conducted by such agencies as the Hospice Foundation of America, GlaxoSmithKline Pharmaceutical Company, The Alzheimer’s Association, Harvard Medical Center, and an Intra Agency Neurology Working Group put together by the Food and Drug Administration.
Much of what we know about Alzheimer’s has been learned in the last 15 years. For instance, the plaque around the neurons is caused by an overproduction of Beta Amyloid. When these particles build up, it blocks communication to the nerve cells and disrupts the activities that the cells need to survive.
Scientists involved in finding a cure for this debilitating genetic disorder consider the emerging field of prevention the most exciting development in dementia research. They believe that the health of the brain is linked to the overall health of the heart and blood vessels. Many are calling for more complex management of cardiovascular risk factors such as high cholesterol, type 2 diabetes, high blood pressure, and weight issues in diagnosed Alzheimer’s patients. Some studies have shown that when combined with regular physical exercise, regulating these components have delayed or reduced cognitive decline!
Although researchers know that the disease is linked to the genetic make-up of our bodies, there is currently no information that they can use to calculate from birth the risk of a person developing Alzheimer’s.
Despite a lack of therapies that would modify the disease itself, the symptoms can be managed with such things as drug treatments, counseling, educational activities and adult day programs. We have learned that signs of Alzheimer’s usually begins in the regions of the brain that form new memories. Many in the health care profession believe this is why the symptoms of the disease usually begin with the difficulty in remembering what the patient had for lunch two hours earlier but can remember minute details of something that occurred in 1962.
But perhaps the most exciting discovery in Alzheimer’s research is the development of tracer compounds that will attach themselves to abnormal brain deposits that are key to the detection of the disease. The one that has received the most success in the lab is “Pittsburgh Compound B”. In some cases, the tracer has attached to Beta Amyloid and when a patient undergoes a PET scan…the deposits of the protein light up.
For those families whose loved ones are suffering from Alzheimer’s, it is breakthrough’s like this one that give them hope for a future that now seems dark.
- Coste, Joanne Koenig and Robert Butler. Learning to Speak Alzheimer’s. Boston: Houghton-Mifflin. 2004.
- Doka, Kenneth J. Living with Grief: Alzheimer’s Disease. Washington, DC: The Hospice Foundation of America. 2004.
- Ham, Jerry. This Stranger in Our House. Spokane: The Inland Northwest Chapter of the Alzheimer’s Association. 1999.
- Rabins, Nancy L . and Peter V .The 36-Hour Day. Baltimore: Johns Hopkins University, 1991.
**Unless otherwise noted, all research information came from the pages of the Alzheimer’s Association Website**