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

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

Abstract 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 clinica...

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Bibliographic Details
Main Authors: Haitian Nan, Min Chu, Deming Jiang, Wenping Liang, Yu Li, Yiming Wu, Zhe Wang, Liyong Wu
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Alzheimer’s Research & Therapy
Subjects:
Alzheimer’s disease
EOAD
Amyloid β
APP
PSEN1
PSEN2
Online Access:https://doi.org/10.1186/s13195-025-01702-0
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