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Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.

Alzheimer's research & therapy - 27 Feb 2025

Nan Haitian, Chu Min, Jiang Deming, Liang Wenping, Li Yu, Wu Yiming, Wang Zhe, Wu Liyong

Abstract excerpt

Variants in PSEN1, PSEN2, and APP are major genetic causes of early-onset Alzheimer's disease (EOAD). Our study aimed to identify the genotypic and phenotypic spectrums in a Chinese EOAD cohort and confirm their pathogenicity by functional analysis. This study included 304 unrelated clinically diagnosed EOAD participants of Chinese Han ancestry. Whole-exome sequencing revealed that 26 out of 304 individuals...

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Source

Open in PubMed Open full text

Identifiers

PMID: 40016812
DOI: 10.1186/s13195-025-01702-0
PMCID: PMC11866898

Genes

PSEN1
APP
PSEN2

Variants

Provenance

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