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A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
Biomarker and diagnostic research for early-onset autosomal dominant Alzheimer disease has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
2 clinical trials registered. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.
21 publications have been identified in PubMed for early-onset autosomal dominant Alzheimer disease. Research spans Basic Science / Preclinical (48%), Case Report / Case Series (43%), and Diagnostic / Biomarker (5%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 10 |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 10:32 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies | 9 | 43% |
Testing and diagnosis research | 1 | 5% |
Research summaries | 1 | 5% |
Funakawa K (2026). [PMID: 41967920](https://pubmed.ncbi.nlm.nih.gov/41967920/). *Rinsho Shinkeigaku*. [Case Report / Case Series]
Hua K (2026). [PMID: 42206280](https://pubmed.ncbi.nlm.nih.gov/42206280/). *NPJ Dement*. [Case Report / Case Series]
Li X (2026). [PMID: 41704171](https://pubmed.ncbi.nlm.nih.gov/41704171/). *Journal of Alzheimer's disease : JAD*. [Basic Science / Preclinical]
Hamaguchi T (2026). [PMID: 41928108](https://pubmed.ncbi.nlm.nih.gov/41928108/). *BMC Neurol*. [Case Report / Case Series]
Zapata-Restrepo LM (2025). [PMID: 41078387](https://pubmed.ncbi.nlm.nih.gov/41078387/). *NPJ dementia*. [Case Report / Case Series]
Poniah P (2025). [PMID: 40149496](https://pubmed.ncbi.nlm.nih.gov/40149496/). *Genes*. [Basic Science / Preclinical]
Ehn E (2025). [PMID: 40128233](https://pubmed.ncbi.nlm.nih.gov/40128233/). *Scientific reports*. [Basic Science / Preclinical]
Xia Y (2025). [PMID: 40583072](https://pubmed.ncbi.nlm.nih.gov/40583072/). *Neurology and therapy*. [Case Report / Case Series]
Valdez-Gaxiola CA (2025). [PMID: 40869250](https://pubmed.ncbi.nlm.nih.gov/40869250/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Rubino E (2025). [PMID: 39810256](https://pubmed.ncbi.nlm.nih.gov/39810256/). *Alzheimer's research & therapy*. [Diagnostic / Biomarker]
AI-curated news mentioning early-onset autosomal dominant Alzheimer disease
Updated Jul 9, 2026
A recent study published in PubMed explores the distribution of neurofibrillary tangles in posterior cortical atrophy compared to typical early-onset Alzheimer's disease. This research may enhance understanding of disease progression and pathology in these conditions.
Researchers identified a novel frameshift variant in the SORL1 gene linked to early-onset Alzheimer's disease (EOAD), which causes amyloid precursor protein (APP) sorting dysfunction and endolysosomal swelling. This discovery could enhance understanding of EOAD mechanisms and potential therapeutic targets.