Early-onset autosomal dominant Alzheimer disease
Synonyms: EOFAD | Early-onset familial autosomal dominant Alzheimer disease | Familial Alzheimer disease
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset usually before 60 years old.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Early-onset autosomal dominant Alzheimer disease?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
Ducks For Dementia
Ducks For Dementia, founded on the profound compassion and vision of a young boy named David, aims to bring solace and understanding to individuals with dementia and their families. Our mission is rooted in the distribution of toy ducks as symbols of comfort, which serve not only as therapeutic aids but also as beacons of joy and companionship for those navigating the complexities of dementia.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Youngtimers Inc.
Youngtimers, formed in 2019, is a non-profit that is dedicated to promoting education, community, support, and research to improve the lives of individuals and families with early onset Alzheimer’s disease or dementia. Early onset familial Alzheimer’s disease is a rare genetic form of Alzheimer’s disease caused by the inheritance of autosomal dominant mutations in one of three genes: amyloid precursor protein (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2). Unlike the more common sporadic form of Alzheimer’s disease, individuals with these mutations start developing dementia and other disease-related symptoms usually in their 30s-50s. It is estimated that approximately 45,000 individuals are at-risk for this disease globally. Providing support for these patients is not only advantageous to this specific disease community, but the larger Alzheimer’s disease community as well. These patients have proven essential in understanding and elucidating how Alzheimer’s disease develops in the brain and are involved in testing investigational drugs that target Alzheimer’s disease. Helping this community continue to stay engaged in research will ultimately help the rest of the world affected by Alzheimer’s disease.
Clinical Trials
For a list of clinical trials in this disease area, please click here.