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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial Alzheimer disease


Other Names for this Disease
  • Familial Alzheimer disease
  • FAD
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Overview

Familial Alzheimer disease (familial AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.[1][2]

There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes:[1]
(1) Alzheimer disease, type 1 is caused by mutations in the APP gene
(2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene    
(3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene.  
  
The condition known as late-onset familial AD includes only the subtype Alzheimer disease, type 2 and is associated with the APOE*4 allele on chromosome 19. This condition results in an increased risk of having AD.[1]
Last updated: 11/2/2015

References

  1. Alzheimer Disease Overview. GeneReviews. September 24, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1161/. Accessed 9/30/2015.
  2. Alzheimer disease. OMIM. Sepbember 9, 2014; http://omim.org/entry/104300. Accessed 9/30/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Familial Alzheimer disease. This website is maintained by the National Library of Medicine.
  • The National Institute on Aging (NIA) leads a national program of research on the biomedical, social, and behavioral aspects of the aging process; the prevention of age-related diseases and disabilities; and the promotion of a better quality of life for all older Americans. Click on the link to view information on this topic. 
  • The National Institutes of Health (NIH) has developed a fact sheet on Alzheimer's disease.  To view this fact sheet, click on the link above.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial Alzheimer disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial Alzheimer disease
  • FAD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.