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...

Full description

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

Similar Items

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer’s Disease
by: YoungSoon Yang, et al.
Published: (2022-11-01)

APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines
by: Xuewen Xiao, et al.
Published: (2021-06-01)

Orchestration of Genetic Alterations in <i>PSEN1</i> and <i>PSEN2</i> Genes in Development of Alzheimer's Disease through Computational Analysis
by: Asif Mir, et al.
Published: (2024-01-01)

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2
by: Simon Hsu, et al.
Published: (2020-06-01)

PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea
by: Bagyinszky E, et al.
Published: (2016-10-01)

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease
by: Vo Van Giau, et al.
Published: (2019-08-01)

Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer’s Disease in Korea
by: Kyu Hwan Shim, et al.
Published: (2022-12-01)

A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer’s Disease in a Large Italian Family
by: Rosanna Tortelli, et al.
Published: (2021-06-01)

Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease
by: Zhihou Liang, et al.
Published: (2023-03-01)

Pathogenic <i>PSEN1</i> Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease
by: Eva Bagyinszky, et al.
Published: (2020-06-01)

Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease
by: Viorica Chelban, et al.
Published: (2021-01-01)

Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer’s Disease
by: YoungSoon Yang, et al.
Published: (2023-10-01)

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease
by: Laura Ibanez, et al.
Published: (2018-04-01)

Familial Alzheimer’s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis
by: Charles Arber, et al.
Published: (2021-01-01)

PSEN1 c.1292C<A Variant and Early-Onset Alzheimer’s Disease: A Scoping Review
by: Maribel Orozco-Barajas, et al.
Published: (2022-07-01)

<i>PSEN1</i> His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine–Tryptophan Interactions in TM-4 Stability
by: Eva Bagyinszky, et al.
Published: (2023-12-01)

A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer’s Disease
by: Kyu-Hwan Shim, et al.
Published: (2022-03-01)

Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer’s Disease
by: Vorapun Senanarong, et al.
Published: (2020-03-01)

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa
by: Chunlin You, et al.
Published: (2020-05-01)

Antidepressant sertraline increases thioflavin-S and Congo red deposition in APPswe/PSEN1dE9 transgenic mice
by: Ming-Hsuan Liao, et al.
Published: (2024-01-01)

A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report
by: Ke Wan, et al.
Published: (2021-07-01)

PSEN1 is associated with colon cancer development via potential influences on PD-L1 nuclear translocation and tumor-immune interactions
by: Wangzhi Wei, et al.
Published: (2022-08-01)

miR-3940-5p reduces amyloid β production via selectively targeting PSEN1
by: Yanmei Qi, et al.
Published: (2024-03-01)

Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)
by: Paola Bisceglia, et al.
Published: (2022-05-01)

(−)-Epigallocatechin-3-Gallate Diminishes Intra-and Extracellular Amyloid-Induced Cytotoxic Effects on Cholinergic-like Neurons from Familial Alzheimer’s Disease PSEN1 E280A
by: Viviana Soto-Mercado, et al.
Published: (2021-12-01)

Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease
by: Hsiang-Han Chen, et al.
Published: (2022-03-01)

<em>PSEN1</em> Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype
by: Ilaria Palmieri, et al.
Published: (2021-04-01)

Discovery and validation of autosomal dominant Alzheimer’s disease mutations
by: Simon Hsu, et al.
Published: (2018-07-01)

miR-27-3p Enhances the Sensitivity of Triple-Negative Breast Cancer Cells to the Antitumor Agent Olaparib by Targeting PSEN-1, the Catalytic Subunit of Γ-Secretase
by: Meng Zhao, et al.
Published: (2021-06-01)

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia
by: Mascha Schönfeld, et al.
Published: (2020-05-01)

The <i>APOE</i> ε4 Allele Affects Cognitive Functions Differently in Carriers of <i>APP</i> Mutations Compared to Carriers of <i>PSEN1</i> Mutations in Autosomal-Dominant Alzheimer’s Disease
by: Ove Almkvist, et al.
Published: (2021-12-01)

MiR-654-3p Constrains Proliferation, Invasion, and Migration of Sinonasal Squamous Cell Carcinoma via CREB1/PSEN1 Regulatory Axis
by: Xiao Cui, et al.
Published: (2022-01-01)

New Insights into the Molecular Bases of Familial Alzheimer’s Disease
by: Valeria D’Argenio, et al.
Published: (2020-04-01)

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds
by: Kilan Le Guennec, et al.
Published: (2017-08-01)

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing
by: Xing Junyue, et al.
Published: (2023-05-01)

Cleavage and Sub-Cellular Redistribution of Nuclear Pore Protein 98 by Coxsackievirus B3 Protease 2A Impairs Cardioprotection
by: Paul J. Hanson, et al.
Published: (2019-07-01)

Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium
by: Bridget M Lin, et al.
Published: (2021-01-01)

Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology
by: Nicolas Gomez-Sequeda, et al.
Published: (2023-08-01)

Nosustrophine: An Epinutraceutical Bioproduct with Effects on DNA Methylation, Histone Acetylation and Sirtuin Expression in Alzheimer’s Disease
by: Olaia Martínez-Iglesias, et al.
Published: (2022-11-01)

A Comprehensive Machine Learning Framework for the Exact Prediction of the Age of Onset in Familial and Sporadic Alzheimer’s Disease
by: Jorge I. Vélez, et al.
Published: (2021-05-01)