Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance

Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance

Alzheimer’s disease (AD) is the most common form of neurodegenerative dementia. In this study, whole genome sequencing identifies one rare and likely pathogenic mutation in the presenilin 1 (PSEN1) gene (c.356C > T, p.T119I) associated with a frontal variant of AD. Affected individuals in the...

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Bibliographic Details
Main Authors: Shouzi Zhang, Xiang Li, Li Zhang, Xiangyan Meng, Li Ma, Guangze Zhang, Haiyan Wu, Ling Liang, Meng Cao, Fan Mei
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Psychiatry
Subjects:
Alzheimer’s disease
behavioral disturbance
PSEN1 mutation
whole genome sequencing
rare coding variants
Online Access:https://www.frontiersin.org/article/10.3389/fpsyt.2020.00347/full

Internet

https://www.frontiersin.org/article/10.3389/fpsyt.2020.00347/full

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