Early-onset, autosomal dominant Alzheimer disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Early-onset autosomal dominant Alzheimer disease;
Congenital and Genetic Diseases; Nervous System Diseases
(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.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormal social behavior||
Abnormal social behaviour
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
[ more ]
|Deposits immunoreactive to beta-amyloid
[ more ]
[ more ]
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Abnormality of vision||
Abnormality of sight
[ more ]
Difficulty finding words
Loss of words
[ more ]
Mental retardation, nonspecific
[ more ]
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes depression and other young dementias such as frontotemporal dementia, Lewy body dementia and Huntington disease (see these terms).
Visit the Orphanet disease page for more information.
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.
Alzheimer's Disease Education and Referral Center (ADEAR)
P.O. Box 8250
Silver Spring, MD 20907-8250
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.
- The Alzheimer's Association provides information on the genetics of Alzheimer disease, including information on Early-onset, autosomal dominant Alzheimer disease
- Genetics Home Reference (GHR) contains information on Early-onset, autosomal dominant 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.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Early-onset, autosomal dominant Alzheimer disease. Click on the link to view a sample search on this topic.
- Bird TD. Early-Onset Familial Alzheimer Disease. GeneReviews. October 2012; https://www.ncbi.nlm.nih.gov/books/NBK1236/.
- Sherva N & Kowall NW. Genetics of Alzheimer disease. UpToDate. 2016; https://www.uptodate.com/contents/genetics-of-alzheimer-disease.