Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김희태 | - |
dc.date.accessioned | 2019-09-05T00:45:17Z | - |
dc.date.available | 2019-09-05T00:45:17Z | - |
dc.date.issued | 2019-03 | - |
dc.identifier.citation | NEUROBIOLOGY OF AGING, v. 75, 224.e9 | en_US |
dc.identifier.issn | 0197-4580 | - |
dc.identifier.issn | 1558-1497 | - |
dc.identifier.uri | https://www.sciencedirect.com/science/article/pii/S0197458018303944?via%3Dihub | - |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/110236 | - |
dc.description.abstract | Early-onset Parkinson's disease (EOPD) can be linked to different genetic backgrounds depending on the disease characteristics. In Korean patients with EOPD, however, only 5 PARK genes have been tested. We recruited 70 patients with EOPD from 4 hospitals in Korea, and 12 PARK genes were screened via multigene panel sequencing. Large insertions or deletions were confirmed by multiplex ligation-dependent probe amplification. We found 20 rare variants (2 in SNCA, 2 in PRKN, 6 in LRRK2, 3 in PINK1, 1 in DJ1, 4 in FBX07, 1 in HTRA2, and 1 in EIG4G1) in 20 subjects regardless of heterogeneity. Two pathogenic variants (SNCA in 2 subjects and DJ1 in one) were from 3 subjects, and 7 likely pathogenic variants (SNCA, LRRK2, FBXO7, and 2 in PINK1 and PRKN) from 7. Akinetic-rigid subtype and dystonia were more common in patients with EOPD with rare variants than in those without rare variants. Multigene panel tests can be effective at identifying genetic variants in patients with EOPD. In addition, we suggest there are different genetic backgrounds in patients with EOPD. (C) 2018 Elsevier Inc. All rights reserved. | en_US |
dc.description.sponsorship | This research was financially sponsored by Yuhan Co, Ltd, through Foundation for Industry Cooperation, University of Ulsan (2017-0253). However, the study was investigator initiated, and the sponsor had no involvement in the study design; in the collection, analysis, and interpretation of data; and in writing the manuscript. Yuhan Co also had no input into the decision to submit this article for publication. The authors had full access to all the data in the study, and the corresponding author had the final responsibility to submit the manuscript for publication. | en_US |
dc.language.iso | en | en_US |
dc.publisher | ELSEVIER SCIENCE INC | en_US |
dc.subject | Early-onset Parkinson's disease | en_US |
dc.subject | Young-onset Parkinson's disease | en_US |
dc.subject | Age of onset | en_US |
dc.subject | Genetic | en_US |
dc.subject | PARK | en_US |
dc.title | Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease | en_US |
dc.type | Article | en_US |
dc.relation.volume | 75 | - |
dc.identifier.doi | 10.1016/j.neurobiolaging.2018.10.030 | - |
dc.relation.page | 22409-22415 | - |
dc.relation.journal | NEUROBIOLOGY OF AGING | - |
dc.contributor.googleauthor | Youn, Jinyoung | - |
dc.contributor.googleauthor | Lee, Chung | - |
dc.contributor.googleauthor | Oh, Eungseok | - |
dc.contributor.googleauthor | Park, Jinse | - |
dc.contributor.googleauthor | Kim, Ji Sun | - |
dc.contributor.googleauthor | Kim, Hee-Tae | - |
dc.contributor.googleauthor | Cho, Jin Whan | - |
dc.contributor.googleauthor | Park, Woong-Yang | - |
dc.contributor.googleauthor | Jang, Wooyoung | - |
dc.contributor.googleauthor | Ki, Chang-Seok | - |
dc.relation.code | 2019038102 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | kimht | - |
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