Early-onset, autosomal dominant Alzheimer disease

Title

Other Names:

EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Early-onset autosomal dominant Alzheimer disease; EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Early-onset autosomal dominant Alzheimer disease; Familial Alzheimer disease See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Subtypes:

Alzheimer disease type 1; Alzheimer disease type 3; Alzheimer disease type 4

This disease is grouped under:

Alzheimer disease; Familial Alzheimer disease

Summary Summary

Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially.^[1]^[2]

There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes:^[1]^[2]

(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.

All subtypes are inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.^[1]

Last updated: 5/5/2017

Symptoms Symptoms

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal social behavior	Abnormal social behaviour	0012433
Agitation		0000713
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Confusion	Disorientation Easily confused Mental disorientation [ more ]	0001289
Deposits immunoreactive to beta-amyloid protein		0003791
Hallucinations	Hallucination Sensory hallucination [ more ]	0000738
Hypertonia		0001276
Language impairment		0002463
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Myoclonus		0001336
Neurofibrillary tangles		0002185
Parkinsonism		0001300
Seizures	Seizure	0001250
30%-79% of people have these symptoms
Disinhibition		0000734
5%-29% of people have these symptoms
Abnormality of vision	Abnormality of sight Vision issue [ more ]	0000504
Aphasia	Difficulty finding words Losing words Loss of words [ more ]	0002381
Ataxia		0001251
Dysgraphia		0010526
Finger agnosia		0010525
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Oculomotor apraxia		0000657
Semantic dementia		0030219

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2019

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner.^[1] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with this condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated: 11/2/2015

Diagnosis Diagnosis

Early-onset, autosomal dominant Alzheimer disease is diagnosed in families that have more than one member with AD in which the age of onset is before age 60 to 65 years. Genetic testing and identification of a mutation in one of the implicated genes (PSEN1, APP, or PSEN2) in an affected family member can assist in confirming the diagnosis. Not all families with early-onset, autosomal dominant Alzheimer disease are found to have mutations in one of the three known genes; therefore there may be other genes involved that have not yet been reported.^[1]

Last updated: 3/10/2017

Testing Resources

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.

Treatment Treatment

Unfortunately, there is no cure for Alzheimer disease in general; however, there are medications that may assist in temporarily helping with memory and thinking problems, such as Exelon, Galantamine, and Aricept. Physical and occupational therapy can be helpful in managing problems with walking and activities of daily living. Depression and seizures may be treated with appropriate medications.^[1]

Last updated: 3/10/2017

Related Diseases Related Diseases

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.

Research Research

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 Early-onset, autosomal dominant 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.

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.

Organizations Organizations

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

Alzheimer's Association
225 N. Michigan Ave., Fl. 17
Chicago, IL 60601-7633
Toll-free: 1-800-272-3900 (24/7 Helpline)
TTY: 1-866-403-3073
Fax: 1-866-699-1246
E-mail: info@alz.org
Website: https://www.alz.org/
Alzheimer's Disease Education and Referral Center (ADEAR)
P.O. Box 8250
Silver Spring, MD 20907-8250
Toll-free: 1-800-438-4380
Telephone: +1-301-495-3311
Fax: +1-301-495-3334
E-mail: adear@nia.nih.gov
Website: https://www.nia.nih.gov/health/alzheimers
Alzheimer's Foundation of America
322 Eighth Avenue
7th Floor
New York, NY 10001
Toll-free: 1-866-232-8484 (National Helpline)
Fax: +1-646-638-1546
E-mail: info@alzfdn.org
Website: https://alzfdn.org/

Do you know of an organization? We want to hear from you.

Living With Living With

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.

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.

Learn More Learn More

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

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.

In-Depth Information

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.

News & Events News & Events

News

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

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