Alzheimer's 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's 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's 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's 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 Alzheimer's disease usually require total care during the advanced stages of the disease.

Individuals with Alzheimer's disease usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. In Alzheimer's disease, death usually results from pneumonia, malnutrition, or general body wasting (inanition).

Alzheimer's disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form of Alzheimer's disease is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer's disease.

Alzheimer's disease currently affects more than 5 million Americans. Because the risk of developing Alzheimer's 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.

Some cases of early-onset Alzheimer's disease are caused by gene variants (also called mutations) that can be passed from parent to child. This results in what is known as early-onset familial Alzheimer's disease (FAD). Researchers have found that this form of the disorder can result from variants in the APP, PSEN1, or PSEN2 genes. 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's 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. Other cases of early-onset Alzheimer's disease may be associated with changes in different genes, some of which have not been identified.

Some evidence indicates that people with Down syndrome have an increased risk of developing Alzheimer's 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's 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's disease. This type of Alzheimer's disease is not inherited.

The causes of late-onset Alzheimer's disease are less clear. The late-onset form does not clearly run in families, although clusters of cases have been reported in some families. Alzheimer's disease 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's disease.

Many more genes have been associated with Alzheimer's disease, and researchers are investigating the role that additional genes may play in Alzheimer's disease risk.

Genetic Testing Information

• Genetic Testing Registry: Alzheimer disease
• Genetic Testing Registry: Alzheimer disease 2
• Genetic Testing Registry: Alzheimer disease 3
• Genetic Testing Registry: Alzheimer disease 4

Genetic and Rare Diseases Information Center

• Alzheimer disease 2
• Early-onset autosomal dominant Alzheimer disease

Patient Support and Advocacy Resources

• National Organization for Rare Disorders (NORD)

Clinical Trials

• ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

• ALZHEIMER DISEASE, FAMILIAL, 1; AD1
• ALZHEIMER DISEASE 2; AD2
• ALZHEIMER DISEASE 4; AD4
• ALZHEIMER DISEASE 3; AD3

Scientific Articles on PubMed

• PubMed

• Atri A. The Alzheimer's Disease Clinical Spectrum: Diagnosis and Management. Med Clin North Am. 2019 Mar;103(2):263-293. doi: 10.1016/j.mcna.2018.10.009. Citation on PubMed
• Bird TD. Genetic aspects of Alzheimer disease. Genet Med. 2008 Apr;10(4):231-9. doi: 10.1097/GIM.0b013e31816b64dc. Citation on PubMed or Free article on PubMed Central
• Chen YG. Research Progress in the Pathogenesis of Alzheimer's Disease. Chin Med J (Engl). 2018 Jul 5;131(13):1618-1624. doi: 10.4103/0366-6999.235112. Citation on PubMed or Free article on PubMed Central
• Eratne D, Loi SM, Farrand S, Kelso W, Velakoulis D, Looi JC. Alzheimer's disease: clinical update on epidemiology, pathophysiology and diagnosis. Australas Psychiatry. 2018 Aug;26(4):347-357. doi: 10.1177/1039856218762308. Epub 2018 Apr 3. Citation on PubMed
• Ertekin-Taner N. Genetics of Alzheimer's disease: a centennial review. Neurol Clin. 2007 Aug;25(3):611-67, v. doi: 10.1016/j.ncl.2007.03.009. Citation on PubMed or Free article on PubMed Central
• Harman D. Alzheimer's disease pathogenesis: role of aging. Ann N Y Acad Sci. 2006 May;1067:454-60. doi: 10.1196/annals.1354.065. Citation on PubMed
• Hebert LE, Weuve J, Scherr PA, Evans DA. Alzheimer disease in the United States (2010-2050) estimated using the 2010 census. Neurology. 2013 May 7;80(19):1778-83. doi: 10.1212/WNL.0b013e31828726f5. Epub 2013 Feb 6. Citation on PubMed or Free article on PubMed Central
• Kemle K, Ackermann RJ. Issues in Geriatric Care: Alzheimer Disease. FP Essent. 2018 May;468:26-34. Citation on PubMed
• Li Y, Grupe A. Genetics of late-onset Alzheimer's disease: progress and prospect. Pharmacogenomics. 2007 Dec;8(12):1747-55. doi: 10.2217/14622416.8.12.1747. Citation on PubMed
• Sun BL, Li WW, Zhu C, Jin WS, Zeng F, Liu YH, Bu XL, Zhu J, Yao XQ, Wang YJ. Clinical Research on Alzheimer's Disease: Progress and Perspectives. Neurosci Bull. 2018 Dec;34(6):1111-1118. doi: 10.1007/s12264-018-0249-z. Epub 2018 Jun 28. Citation on PubMed or Free article on PubMed Central