National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial Alzheimer disease


Other Names:
Familial Alzheimer disease; FAD
Subtypes:
This disease is grouped under:
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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Familial Alzheimer disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Familial Alzheimer disease. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Familial Alzheimer disease:
    Alzheimer's Prevention Registry
     

General Clinical Trials & Research

  • The Dominantly Inherited Alzheimer Network (DIAN) is an international partnership of leading scientists determined to understand dominantly inherited Alzheimer disease (DIAD). The Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU), the clinical research arm of DIAN, is dedicated to designing and managing interventional therapeutic trials for individuals with, and at risk of, DIAD. Click on the link to learn about their research efforts and see enrollment information for individuals and families who are impacted by DIAD or who are at risk for developing the disease.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • Alzheimer's Association Senior Housing FinderSM, powered by SNAPforSeniors®, is an online senior housing search tool that enables consumers and professionals to:
    • Access a current list of all licensed care facilities 
    • View detailed listings for facilities offering services specific to the needs of residents with Alzheimer's or dementia.
    • Find facilities that match the needs and preferences identified through the Alzheimer's Association CareFinder™.
  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I once heard that Alzheimers Disease skips generations.  For example, my mother's father suffered from this illness. Does my mother have a higher chance of developing the condition than my brother and I? See answer


  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.