What is Alzheimer disease?
Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.
Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.
As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease. Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Death usually results from pneumonia, malnutrition, or general body wasting (inanition).
Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear before age 65, while the late-onset form appears after age 65. The early-onset form is much less common than the late-onset form, accounting for less than 5 percent of all cases of Alzheimer disease.
How common is Alzheimer disease?
Alzheimer disease currently affects an estimated 2.4 million to 4.5 million Americans. Because the risk of developing Alzheimer disease increases with age and more people are living longer, the number of people with this disease is expected to increase significantly in coming decades.
What genes are related to Alzheimer disease?
Most cases of early-onset Alzheimer disease are caused by gene mutations that can be passed from parent to child. Researchers have found that this form of the disorder can result from mutations in one of three genes: APP, PSEN1, or PSEN2. When any of these genes is altered, large amounts of a toxic protein fragment called amyloid beta peptide are produced in the brain. This peptide can build up in the brain to form clumps called amyloid plaques, which are characteristic of Alzheimer disease. A buildup of toxic amyloid beta peptide and amyloid plaques may lead to the death of nerve cells and the progressive signs and symptoms of this disorder.
Some evidence indicates that people with Down syndrome have an increased risk of developing Alzheimer disease. Down syndrome, a condition characterized by intellectual disability and other health problems, occurs when a person is born with an extra copy of chromosome 21 in each cell. As a result, people with Down syndrome have three copies of many genes in each cell, including the APP gene, instead of the usual two copies. Although the connection between Down syndrome and Alzheimer disease is unclear, the production of excess amyloid beta peptide in cells may account for the increased risk. People with Down syndrome account for less than 1 percent of all cases of Alzheimer disease.
The causes of late-onset Alzheimer disease are less clear. The late-onset form does not clearly run in families, although clusters of cases have been reported in some families. This disorder is probably related to variations in one or more genes in combination with lifestyle and environmental factors. A gene called APOE has been studied extensively as a risk factor for the disease. In particular, a variant of this gene called the e4 allele seems to increase an individual’s risk for developing late-onset Alzheimer disease. Researchers are investigating many additional genes that may play a role in Alzheimer disease risk.
Read more about Down syndrome.
How do people inherit Alzheimer disease?
The early-onset form of Alzheimer disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent.
The inheritance pattern of late-onset Alzheimer disease is uncertain. People who inherit one copy of the APOE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk. It is important to note that people with the APOE e4 allele inherit an increased risk of developing Alzheimer disease, not the disease itself. Not all people with Alzheimer disease have the e4 allele, and not all people who have the e4 allele will develop the disease.
Where can I find information about diagnosis or management of Alzheimer disease?
These resources address the diagnosis or management of Alzheimer disease and may include treatment providers.
- Alzheimer’s Disease Research Center, Washington University School of Medicine
- Gene Review: Alzheimer Disease
- Gene Review: Early-Onset Familial Alzheimer Disease
- Gene Tests: Alzheimer Disease Risk Factor (APOE Genotype)
- Gene Tests: Alzheimer Disease Type 1
- Gene Tests: Alzheimer Disease Type 3
- Gene Tests: Alzheimer Disease Type 4
- Lab Tests Online
- Mayo Clinic
- MedlinePlus Encyclopedia: Alzheimer’s Disease
- Michigan Alzheimer’s Disease Research Center
- University of California Davis Alzheimer’s Disease Center
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about Alzheimer disease?
You may find the following resources about Alzheimer disease helpful. These materials are written for the general public.
MedlinePlus - Health information (3 links)
Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (5 links)
Additional NIH Resources - National Institutes of Health (6 links)
Educational resources - Information pages (9 links)
Patient support - For patients and families (6 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Reviews - Clinical summary (2 links)
Gene Tests - DNA tests ordered by healthcare professionals (4 links)
- ClinicalTrials.gov - Linking patients to medical research
- PubMed - Recent literature
- Online Books – Medical and science texts
OMIM - Genetic disorder catalog (4 links)
What if I still have specific questions about Alzheimer disease?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
- What does it mean if a disorder seems to run in my family?
- What are the different ways in which a genetic condition can be inherited?
- If a genetic disorder runs in my family, what are the chances that my children will have the condition?
- Why are some genetic conditions more common in particular ethnic groups?
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding Alzheimer disease?
allele ; amyloid ; amyloid plaque ; autosomal ; autosomal dominant ; cell ; chromosome ; degenerative ;dementia ; familial ; gene ; inanition ; inheritance ; inheritance pattern ; mutation ; nerve cell ;neurofibrillary tangles ; parkinsonism ; peptide ; plaque ; pneumonia ; protein ; risk factors ; sclerosis ;sign ; stage ; symptom ; syndrome ; tau proteins ; toxic ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.