Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia
Our findings expand the mutational and phenotypic spectrum associated with NOTCH3. NOTCH3 pathogenic variants are present in clinically diagnosed AD and FTD patients. However, the absence of biomarkers to confirm AD or FTD diagnoses limits the interpretation of whether these cases represent comorbid conditions or phenotypic overlaps with CADASIL. Clinical identification of dementia patients with these variants at an early stage is challenging.
Authors
- Min Kyung Chu (ORCID: https://orcid.org/0000-0001-6221-1346)
- Liyong Wu (ORCID: https://orcid.org/0000-0002-1251-6130)
- Lijun Chi
- Jieying Li (ORCID: https://orcid.org/0000-0002-0576-1891)
- Ailing Yue
- Guoping Peng
- Haitian Nan (ORCID: https://orcid.org/0000-0002-1185-5464)
- Xiaoyan Liu (ORCID: https://orcid.org/0000-0002-1732-5923)
- Qianqian He (ORCID: https://orcid.org/0009-0006-6489-3989)
- Yanchen Liu (ORCID: https://orcid.org/0000-0001-9431-6919)
Institutions
- University of Electronic Science and Technology of China (CN)
- Harbin Medical University (CN)
- Capital Medical University (CN)
- First Affiliated Hospital of Harbin Medical University (CN)
- Second Affiliated Hospital of Zhejiang University (CN)
Publication Details
- Journal
- Alzheimer s Research & Therapy
- Published
- 2025-08-09
- DOI
- https://doi.org/10.1186/s13195-025-01836-1
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China