Detailed Information
Cited 0 time in 
Cited 0 time in 
Cited 0 time in
Metadata Downloads
Analysis of dementia-related gene variants in APOE epsilon 4 noncarrying Korean patients with early-onset Alzheimer's disease
- Authors
- Park, Jong Eun; Kim, Hee Jin; Kim, Young-Eun; Jang, Hyemin; Cho, Soo Hyun; Kim, Seung Joo; Na, Duk L.; Won, Hong-Hee; Ki, Chang-Seok; Seo, Sang Won
- Issue Date
- Jan-2020
- Publisher
- ELSEVIER SCIENCE INC
- Keywords
- Early-onset Alzheimer' s disease; APOE epsilon 4 non-carriers; Exome sequencing
- Citation
- NEUROBIOLOGY OF AGING, v.85, pp.155.e5 - 155.e8
- Indexed
- SCIE
SCOPUS
- Journal Title
- NEUROBIOLOGY OF AGING
- Volume
- 85
- Start Page
- 155.e5
- End Page
- 155.e8
- ISSN
- 0197-4580
- Abstract
- There is a genetic overlap among various neurodegenerative diseases that cause dementia. We analyzed dementia-related gene variants in 60 apolipoprotein E epsilon 4 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 epsilon 4 noncarrying Korean patients with early-onset Alzheimer's disease.
- Files in This Item
- Go to Link
- Appears in
Collections - 서울 의과대학 > 서울 진단검사의학교실 > 1. Journal Articles
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
Related Researcher
- Kim, Young Eun
- COLLEGE OF MEDICINE (DEPARTMENT OF LABORATORY MEDICINE)