Overview
Early-onset autosomal dominant Alzheimer disease (EOAD), also known as familial Alzheimer disease, is a rare inherited form of Alzheimer disease in which symptoms of progressive dementia begin before the age of 65, often between the ages of 30 and 60. It is caused by pathogenic variants in one of three genes: APP (amyloid precursor protein) on chromosome 21, PSEN1 (presenilin 1) on chromosome 14, or PSEN2 (presenilin 2) on chromosome 1. Mutations in PSEN1 are the most common cause and tend to produce the earliest onset, sometimes as young as the late 20s to early 30s. The disease primarily affects the central nervous system, with progressive neurodegeneration driven by abnormal accumulation of amyloid-beta plaques and neurofibrillary tau tangles in the brain. The hallmark clinical features include progressive memory loss, impaired judgment and reasoning, language difficulties (aphasia), visuospatial dysfunction, and changes in personality and behavior. As the disease advances, patients develop severe cognitive decline, loss of ability to perform daily activities, motor dysfunction, and eventually become fully dependent on caregivers. Some patients, particularly those with certain PSEN1 mutations, may also develop myoclonus, seizures, spastic paraparesis, cerebellar ataxia, or extrapyramidal signs. The rate of progression varies but is often more rapid than in late-onset sporadic Alzheimer disease. Currently, there is no cure for early-onset autosomal dominant Alzheimer disease. Treatment is primarily symptomatic and supportive, including cholinesterase inhibitors (donepezil, rivastigmine, galantamine) and the NMDA receptor antagonist memantine, which may provide modest temporary improvement in cognitive symptoms. Recently, anti-amyloid monoclonal antibodies such as lecanemab have been approved for Alzheimer disease and are being studied in familial forms, including through the landmark Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU) prevention trials. Genetic counseling is strongly recommended for affected families, and predictive genetic testing is available for at-risk relatives. Multidisciplinary care involving neurologists, neuropsychologists, social workers, and palliative care specialists is essential for managing the disease and supporting patients and families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
10 eventsGeneral Hospital of Shenyang Military Region — NA
CKD Bio Corporation — NA
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Duke University — NA
Indiana University — NA
Universidad Católica San Antonio de Murcia — NA
Imperial College London
Rune Skovgaard Rasmussen — PHASE2
University Hospital, Strasbourg, France — NA
University of California, Los Angeles — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Early-onset autosomal dominant Alzheimer disease.
20 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Early-onset autosomal dominant Alzheimer disease.
Community
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Start the conversation →Latest news about Early-onset autosomal dominant Alzheimer disease
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Early-onset autosomal dominant Alzheimer disease
What is Early-onset autosomal dominant Alzheimer disease?
Early-onset autosomal dominant Alzheimer disease (EOAD), also known as familial Alzheimer disease, is a rare inherited form of Alzheimer disease in which symptoms of progressive dementia begin before the age of 65, often between the ages of 30 and 60. It is caused by pathogenic variants in one of three genes: APP (amyloid precursor protein) on chromosome 21, PSEN1 (presenilin 1) on chromosome 14, or PSEN2 (presenilin 2) on chromosome 1. Mutations in PSEN1 are the most common cause and tend to produce the earliest onset, sometimes as young as the late 20s to early 30s. The disease primarily aff
How is Early-onset autosomal dominant Alzheimer disease inherited?
Early-onset autosomal dominant Alzheimer disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Early-onset autosomal dominant Alzheimer disease typically begin?
Typical onset of Early-onset autosomal dominant Alzheimer disease is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Early-onset autosomal dominant Alzheimer disease?
Yes — 20 recruiting clinical trials are currently listed for Early-onset autosomal dominant Alzheimer disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Early-onset autosomal dominant Alzheimer disease?
25 specialists and care centers treating Early-onset autosomal dominant Alzheimer disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.