Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 김영은 | - |
dc.date.accessioned | 2021-04-06T02:02:48Z | - |
dc.date.available | 2021-04-06T02:02:48Z | - |
dc.date.issued | 2020-02 | - |
dc.identifier.citation | SCIENTIFIC REPORTS, v. 10, no. 1, article no. 3480 | en_US |
dc.identifier.issn | 2045-2322 | - |
dc.identifier.uri | https://www.nature.com/articles/s41598-020-59829-z | - |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/161203 | - |
dc.description.abstract | Pathogenic variants in the PSEN1 gene are known to be the most common cause of early-onset Alzheimer's disease but there are few data on the frequency and spectrum of PSEN1 variants in Korea. In this study, we investigated PSEN1 variants in a consecutive series of clinically suspicious early-onset familial AD (EOFAD) Korean patients and their clinical characteristics and imaging findings. From January 2007 to December 2013, EOFAD patients with very early onset AD (<50 yr), early onset AD (<60 yr) with two or more relatives with AD, and early onset AD (<60 yr) with one or more first-degree relatives with very early onset AD (<50 yr) were enrolled in this study. Sequence analysis of the PSEN1 gene was performed by Sanger sequencing. Neuroimaging data and conventional brain MRIs and FDG-PET and/or [C-11] PiB-PET scans were analyzed in patients with PSEN1 variants. Among the 28 patients with EOFAD, six (21.4%, 6/28) patients had pathogenic or likely pathogenic variants in the PSEN1 gene. Two pathogenic variants were p.Glu120Lys and p.Ser170Phe and four likely pathogenic variants were p.Thr119Ile, p.Tyr159Cys, p.Leu282Pro, and p.Ala285Ser. Two patients had variants of unknown significance, p.Tyr389His and p.Tyr389Ser. EOFAD patients with PSEN1 variants showed early AD onset, frequent visuospatial dysfunction, movement disorders, and rapid disease progression. Brain MRIs revealed diffuse cortical atrophy, including parietal lobe atrophy, and/or hippocampal atrophy. FDG-PET scans also revealed significant hypometabolism in the bilateral temporo-parietal regions. Our findings provide insight to better understand the genetic background of Korean EOFAD patients. | en_US |
dc.description.sponsorship | This study was supported by the Basic Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF-2013R1A1A2065365), the Korean Healthcare Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Ministry for Health and Welfare Affairs (HIC120713 & HI14C2768), a Korean Science and Engineering Foundation (KOSEF) NRL program grant funded by the Korean government (MEST; 20110028333), a Samsung Medical Center Clinical Research Development Program grant (CRL108011 & CRS 110-14-1), the Korea Ministry of Environment (MOE) as the Environmental Health Action Program (2014001360002), and the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (HI19C1132). | en_US |
dc.language.iso | en | en_US |
dc.publisher | NATURE PUBLISHING GROUP | en_US |
dc.subject | PRESENILIN-1 MUTATION | en_US |
dc.subject | MISSENSE MUTATIONS | en_US |
dc.subject | PHENOTYPE | en_US |
dc.subject | GENETICS | en_US |
dc.subject | ASSOCIATION | en_US |
dc.subject | DEMENTIA | en_US |
dc.subject | HETEROGENEITY | en_US |
dc.subject | GUIDELINES | en_US |
dc.subject | DIAGNOSIS | en_US |
dc.subject | GENES | en_US |
dc.title | PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer’s disease | en_US |
dc.type | Article | en_US |
dc.relation.no | 1 | - |
dc.relation.volume | 10 | - |
dc.identifier.doi | 10.1038/s41598-020-59829-z | - |
dc.relation.page | 3480-3480 | - |
dc.relation.journal | SCIENTIFIC REPORTS | - |
dc.contributor.googleauthor | Kim, Young-Eun | - |
dc.contributor.googleauthor | Cho, Hanna | - |
dc.contributor.googleauthor | Kim, Hee Jin | - |
dc.contributor.googleauthor | Na, Duk L. | - |
dc.contributor.googleauthor | Seo, Sang Won | - |
dc.contributor.googleauthor | Ki, Chang-Seok | - |
dc.relation.code | 2020051242 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | young0eun | - |
dc.identifier.orcid | http://orcid.org/0000-0002-4082-7630 | - |
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