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
Description
Summary: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 kindred developed late-onset cognitive decline accompanied with early presentation of psychiatric symptoms. Positive amyloid PiB PET tracing suggested presence of pathophysiological biomarker for AD. Whole genome sequencing analysis evaluated rare coding mutations in susceptible genes for various types of dementia and supported the role of PSEN1 as a causal gene. Identification of this T119I variant in PSEN1 might broaden the spectrum of genetic basis and clinical diversity of familial AD.
ISSN:1664-0640

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