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Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia.

Alzheimer's research & therapy - 9 Aug 2025

Nan Haitian, Chu Min, Yue Ailing, He Qianqian, Li Jieying, Liu Yanchen, Chi Lijun, Liu Xiaoyan, Peng Guoping, Wu Liyong

Abstract excerpt

BACKGROUND: A pathogenic variant in the NOTCH3 gene has been identified as the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Studies focusing on variants in NOTCH3 in Alzheimer's disease (AD) and frontotemporal dementia (FTD) cohorts have been limited. We aim to screen clinically diagnosed AD and FTD patients with unknown etiology for pathogenic...

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Source

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Identifiers

PMID: 40783530
DOI: 10.1186/s13195-025-01836-1
PMCID: PMC12335043

Genes

NOTCH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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