Background Information
Alzheimer’s disease is a brain disorder named for German physician Alois Alzheimer, who first described it in 1906. Scientists have learned a great deal about Alzheimer’s disease in the century since Dr. Alzheimer first drew attention to it. Alzheimer's and the brain Just like the rest of our bodies, our brains change as we age. Most of us notice some slowed thinking and occasional problems remembering certain things. However, serious memory loss, confusion and other major changes in the way our minds work are not a normal part of aging. They may be a sign that brain cells are failing.

The brain has 100 billion nerve cells (neurons). Each nerve cell communicates with many others to form networks.Nerve cell networks have special jobs. Some are involved in thinking, learning and remembering. Others help us see, hear and smell. Still others tell our muscles when to move. To do their work, brain cells operate like tiny factories. They take in supplies, generate energy, construct equipment and get rid of waste. Cells also process and store information. Keeping everything running requires coordination as well as large amounts of fuel and oxygen. In Alzheimer’s disease, parts of the cell’s factory stop running well. Scientists are not sure exactly where the trouble starts. But just like a real factory, backups and breakdowns in one system cause problems in other areas. As damage spreads, cells lose their ability to do their jobs well. Eventually, they die.


Biology of the Disease
Two abnormal structures called plaques and tangles are prime suspects in damaging and killing nerve cells. Plaques and tangles were among the abnormalities that Dr. Alois Alzheimer saw in the brain of Auguste D., although he called them different names. Plaques build up between nerve cells. They contain deposits of a protein fragment called beta-amyloid (BAY-tuh AM-uh-loyd). Tangles are twisted fibers of another protein called tau (rhymes with
“wow”). Tangles form inside dying cells. Though most people develop some plaques and tangles as they age, those with Alzheimer’s tend to develop far more. The plaques and tangles tend to form in a predictable pattern, beginning in areas important in learning and memory and then spreading to other
regions. Scientists are not absolutely sure what role plaques and tangles play in Alzheimer’s disease. Most experts believe they somehow block communication among nerve cells and disrupt activities that cells need to survive.


*Memory Loss: Forgetting important and or new information
*Difficulty Performing Familiar Tasks: Completing everyday tasks become difficult (preparing meals, playing games, etc.)
*Language Problems: Substituting wrong words into conversation or forgetting of simple words
*Disorientation of Time and Place: Easily getting lost in familiar neighborhoods or confusion of directions
*Poor Judgement: May have difficulty with common judgements like overdressing for weather conditions, or giving too much money to cashiers
*Misplacing Things: May put things in very abnormal places
*Changes in Personality: Individual may become easily confused, stressed, or have emotional changes on a regular basis
*Loss of Initiative: May suddenly become passive and lose interest in usual hobbies


There is currently no cure to Alzheimers but there are medications to assist in eliminating behavioral and cognitive problems. Memantine, Cholinesterase inhibitors, and Vitamin E are commonly used to decrease symptoms. Antidepressant and antipsychotic medications may also be used to help decrease behavioral symptoms.

Diagnostic Testing
It is important to get a diagnosis as soon as possible. Although there is no cure, treatment seems to work best when done during the first immediate stages. Diagnosis is difficult to pinpoint in this disease so many tests may be done and there may be a long process of ruling out other possible illnesses or symptoms. The tests completed will most likely include: medical history, physical examination, neuropsychological testing, laboratory tests, and possible brain-image scanning. This can be an overwhelming process but early diagnosis is recommended in order to get early treatment and to give time for the family to understand occurences.

Case A Description

Case A: Martha, age 71, has been exhibiting increasingly severe symptoms of senile dementia and has been hospitalized for testing. She is in good health otherwise. Her three children - Sam (age 43), Joan (age 41) and Robert (age 38) - want to find out the cause of the dementia and determine the prognosis for Martha's future condition. They are also concerned that Martha may have a form of familial Alzheimer disease and want to know if they are at risk. The physician decides initially to test Martha for two mutations, 693 Gly and 717 Ile, in the amyloid precursor protein (APP) gene which are associated with inherited Alzheimer disease.

Case A Testing Results

Test for the 693 Mutation
Case A Statement to Family

Your family does not carry the 717 mutation however there are some cases of the 693 mutation being present. I am sorry to tell you that both Joan and Martha are homozygous for this particular gene, meaning they do carry it. There is a predisposition to alzheimers in each of these individuals. Sam is heterozygous and may be more susceptible to giving his children this disease. Any possible offspring is advised to be checked in the future. I am happy to share with your family that Robert does not carry either the 717 or 693 mutation.

Case B Description

Case B: Lisa, age 17, and her cousin Jen age 18, were half-listening to music in the den and half-listening to their mothers discuss Grandma Eloise and her older sister Florence. Lisa and Jen loved Eli and Flo dearly but even they could tell something wasn’t quite right about their increasingly odd behavior. The teens moved into the kitchen to join the conversation. “Is Grandma’s erratic behavior and forgetfulness Alzheimer’s or just senile dementia commonly associated with old age?” They decide to talk to Eloise and Florence about DNA testing. The mothers also wonder about their risk for Alzheimer disease and decide to be tested.

Case B Testing Results

Test for the 693 mutation
Case B Statement to Family
According to our test results, it appears that the 717 mutation runs in your family. Fortunately Jen's mother does carry this gene at all. However, I am sorry to say that Florence and Lisa's mother are heterozygous. This means that in the future they could have Alzheimers and it could be past on to any offspring. Eloise carries this homozygous gene which means she is carrying the gene. Please consider that these genes are present but not all cases may actually result in the disease. It is recommended that anyone carrying this gene be aware of any possible warning signs that may result. If signs to occur in the future please see a doctor as soon as possible.

Additional Information
*It is thought that 4.5 million Americans suffer from Alzheimers.
*About 5% of individuals age 65-74 have Alzheimers.
*On average an Alzheimers patient lives from eight to ten years after being diagnosed but it can last for as many as 20.