ArticleFrontiers in aging neuroscience2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Article in Frontiers in aging neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.Human molecular genetics · 2026Article
- CSF1R mutations in an Italian population of early-onset dementia: a case series.Journal of neurology · 2026Article
- IsmedRxiv : the preprint server for health sciences · 2026Article
- Screen, Sample, Stratify: Biomarkers and Machine Learning Compress Dementia Pathways.Biomedicines · 2026Article
- Article
- The innate immune response in tauopathies.European journal of immunology · 2023Review
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Authors and funding
16 authors at 6 institutions in 1 country.
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Abstract
Early-onset Alzheimer's disease (EOAD) is the most common form of early-onset dementia. Although three major genes have been identified as causative, the genetic contribution to the disease remains unsolved in many patients. Recent studies have identified pathogenic variants in genes representing a risk factor for developing Alzheimer's disease (AD) and in causative genes for other degenerative dementias as responsible for EOAD. To study them further, we investigated a panel of candidate genes in 102 Italian EOAD patients, 45.10% of whom had a positive family history and 21.74% with a strong family history of dementia. We found that 10.78% of patients carried pathogenic or likely pathogenic variants, including a novel variant, in
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