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Genetics Home Reference: your guide to understanding genetic conditions
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Alzheimer disease

Reviewed May 2013

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.

Related Gene(s)

Changes in these genes are associated with Alzheimer disease.

  • APOE
  • APP
  • PSEN1
  • PSEN2

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 (http://alzheimer.wustl.edu/)
  • Gene Review: Alzheimer Disease Overview (http://www.ncbi.nlm.nih.gov/books/NBK1161)
  • Gene Review: Early-Onset Familial Alzheimer Disease (http://www.ncbi.nlm.nih.gov/books/NBK1236)
  • Genetic Testing Registry: Alzheimer's disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0002395)
  • Genetic Testing Registry: Alzheimer disease, type 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1863051)
  • Genetic Testing Registry: Alzheimer disease, type 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1843013)
  • Genetic Testing Registry: Alzheimer disease, type 4 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1847200)
  • MedlinePlus Encyclopedia: Alzheimer's Disease (http://www.nlm.nih.gov/medlineplus/ency/article/000760.htm)
  • Michigan Alzheimer's Disease Research Center (http://alzheimers.med.umich.edu/)
  • University of California Davis Alzheimer's Disease Center (http://www.ucdmc.ucdavis.edu/alzheimers/)

You might also find information on the diagnosis or management of Alzheimer disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/alzheimer-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/alzheimer-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) 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.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Alzheimer disease?

  • AD
  • Alzheimer dementia (AD)
  • Alzheimer sclerosis
  • Alzheimer's Disease
  • Alzheimer syndrome
  • Alzheimer-type dementia (ATD)
  • DAT
  • familial Alzheimer disease (FAD)
  • Presenile and senile dementia
  • Primary Senile Degenerative Dementia
  • SDAT

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Alzheimer disease?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Alzheimer disease?

allele ; amyloid ; amyloid plaque ; autosomal ; autosomal dominant ; cell ; chromosome ; degenerative ; dementia ; disability ; familial ; gene ; inanition ; inherit ; inheritance ; inheritance pattern ; inherited ; parkinsonism ; peptide ; plaque ; pneumonia ; protein ; sclerosis ; sign ; syndrome ; toxic ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ashford JW. APOE genotype effects on Alzheimer's disease onset and epidemiology. J Mol Neurosci. 2004;23(3):157-65. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15181244?dopt=Abstract)
  • Bird TD. Genetic aspects of Alzheimer disease. Genet Med. 2008 Apr;10(4):231-9. doi: 10.1097/GIM.0b013e31816b64dc. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18414205?dopt=Abstract)
  • Bird TD. Genetic factors in Alzheimer's disease. N Engl J Med. 2005 Mar 3;352(9):862-4. (http://www.ncbi.nlm.nih.gov/pubmed/15745976?dopt=Abstract)
  • Cummings JL. Alzheimer's disease. N Engl J Med. 2004 Jul 1;351(1):56-67. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15229308?dopt=Abstract)
  • Ertekin-Taner N. Genetics of Alzheimer's disease: a centennial review. Neurol Clin. 2007 Aug;25(3):611-67, v. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17659183?dopt=Abstract)
  • Gene Review: Early-Onset Familial Alzheimer Disease (http://www.ncbi.nlm.nih.gov/books/NBK1236)
  • Harman D. Alzheimer's disease pathogenesis: role of aging. Ann N Y Acad Sci. 2006 May;1067:454-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16804026?dopt=Abstract)
  • Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 Jan 28;60(2):235-9. (http://www.ncbi.nlm.nih.gov/pubmed/12552037?dopt=Abstract)
  • Kamboh MI. Molecular genetics of late-onset Alzheimer's disease. Ann Hum Genet. 2004 Jul;68(Pt 4):381-404. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15225164?dopt=Abstract)
  • Li Y, Grupe A. Genetics of late-onset Alzheimer's disease: progress and prospect. Pharmacogenomics. 2007 Dec;8(12):1747-55. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18086004?dopt=Abstract)
  • Lott IT, Head E. Alzheimer disease and Down syndrome: factors in pathogenesis. Neurobiol Aging. 2005 Mar;26(3):383-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15639317?dopt=Abstract)
  • Lott IT, Head E. Down syndrome and Alzheimer's disease: a link between development and aging. Ment Retard Dev Disabil Res Rev. 2001;7(3):172-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11553933?dopt=Abstract)
  • Mattson MP. Pathways towards and away from Alzheimer's disease. Nature. 2004 Aug 5;430(7000):631-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15295589?dopt=Abstract)
  • Nussbaum RL, Ellis CE. Alzheimer's disease and Parkinson's disease. N Engl J Med. 2003 Apr 3;348(14):1356-64. Review. Erratum in: N Engl J Med. 2003 Jun 19;348(25):2588. (http://www.ncbi.nlm.nih.gov/pubmed/12672864?dopt=Abstract)
  • Papassotiropoulos A, Fountoulakis M, Dunckley T, Stephan DA, Reiman EM. Genetics, transcriptomics, and proteomics of Alzheimer's disease. J Clin Psychiatry. 2006 Apr;67(4):652-70. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16669732?dopt=Abstract)
  • Rocchi A, Pellegrini S, Siciliano G, Murri L. Causative and susceptibility genes for Alzheimer's disease: a review. Brain Res Bull. 2003 Jun 30;61(1):1-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12788204?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2013
Published: September 29, 2014