Literature DB >> 31217084

Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.

Jong Eun Park1, Hee Jin Kim2, Young-Eun Kim3, Hyemin Jang2, Soo Hyun Cho4, Seung Joo Kim5, Duk L Na6, Hong-Hee Won7, Chang-Seok Ki8, Sang Won Seo9.   

Abstract

There is a genetic overlap among various neurodegenerative diseases that cause dementia. We analyzed dementia-related gene variants in 60 apolipoprotein E ε4 non-carrying Korean patients with early-onset Alzheimer's disease. Thirty-one dementia-related genes were screened by exome sequencing. Among the 60 patients, three likely pathogenic variants (LPVs) and 1 variant of uncertain significance (VUS) were identified in PSEN1. In addition, two LPVs in TYROBP (c.141del) and PINK1 (c.1220G>A) and 17 VUS were found in other dementia-causing genes. Two variants in SORL1 and TREM2 were identified that were associated with Alzheimer's disease. In this study, we identified 5 (8.3%) LPVs and 18 (30%) VUSs in known dementia-related genes in apolipoprotein E ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  APOE ε4 non-carriers; Early-onset Alzheimer's disease; Exome sequencing

Year:  2019        PMID： 31217084     DOI： 10.1016/j.neurobiolaging.2019.05.009

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  6 in total

1.  Heterozygous TREM2 Mutation in Semantic Variant of Primary Progressive Aphasia.

Authors:  Min Jin Ji; Sungwon Jung; Ha Eun Seo; Sang Young Kim; Woo Ram Kim; Sora Kim; Jin Sook Lee; Young Noh
Journal:  J Clin Neurol       Date:  2020-04       Impact factor: 3.077

2.  Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.

Authors:  Li-Hong Han; Yan-Yan Xue; Yi-Cen Zheng; Xiao-Yan Li; Rong-Rong Lin; Zhi-Ying Wu; Qing-Qing Tao
Journal:  Clin Interv Aging       Date:  2020-10-02       Impact factor: 4.458

3.  Dementia in Southeast Asia: influence of onset-type, education, and cerebrovascular disease.

Authors:  Ashwati Vipin; Vaynii Satish; Seyed Ehsan Saffari; Wilbur Koh; Levinia Lim; Eveline Silva; Mei Mei Nyu; Tanya-Marie Choong; Esther Chua; Linda Lim; Adeline Su Lyn Ng; Hui Jin Chiew; Kok Pin Ng; Nagaendran Kandiah
Journal:  Alzheimers Res Ther       Date:  2021-11-30       Impact factor: 6.982

4.  Protect Effects of Seafood-Derived Plasmalogens Against Amyloid-Beta (1-42) Induced Toxicity via Modulating the Transcripts Related to Endocytosis, Autophagy, Apoptosis, Neurotransmitter Release and Synaptic Transmission in SH-SY5Y Cells.

Authors:  Junli Feng; Gongshuai Song; Qing Shen; Xi Chen; Qingcheng Wang; Shunyuan Guo; Manman Zhang
Journal:  Front Aging Neurosci       Date:  2021-11-26       Impact factor: 5.750

Review 5.  Dissecting the clinical heterogeneity of early-onset Alzheimer's disease.

Authors:  Daniel W Sirkis; Luke W Bonham; Taylor P Johnson; Renaud La Joie; Jennifer S Yokoyama
Journal:  Mol Psychiatry       Date:  2022-04-07       Impact factor: 13.437

6.  Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Authors:  Anna Bartoletti-Stella; Martina Tarozzi; Giacomo Mengozzi; Francesca Asirelli; Laura Brancaleoni; Nicola Mometto; Michelangelo Stanzani-Maserati; Simone Baiardi; Simona Linarello; Marco Spallazzi; Roberta Pantieri; Elisa Ferriani; Paolo Caffarra; Rocco Liguori; Piero Parchi; Sabina Capellari
Journal:  Front Aging Neurosci       Date:  2022-09-05       Impact factor: 5.702
  6 in total

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