Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Bagyinszky, Eva | - |
dc.contributor.author | Giau, Vo Van | - |
dc.contributor.author | Youn, Young Chul | - |
dc.contributor.author | An, Seong Soo A. | - |
dc.contributor.author | Kim, SangYun | - |
dc.date.available | 2020-02-27T15:43:49Z | - |
dc.date.created | 2020-02-06 | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 1178-2021 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/5293 | - |
dc.description.abstract | Abnormal prion proteins are responsible for several fatal neurodegenerative diseases in humans and in animals, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker disease, and fatal familial insomnia. Genetics is important in prion diseases, but in the most cases, cause of diseases remained unknown. Several mutations were found to be causative for prion disorders, and the effect of mutations may be heterogeneous. In addition, different prion mutations were suggested to play a possible role in additional phenotypes, such as Alzheimer's type pathology, spongiform encephalopathy, or frontotemporal dementia. Pathogenic nature of several prion mutations remained unclear, such as M129V and E219K. These two polymorphic sites were suggested as either risk factors for different disorders, such as Alzheimer's disease (AD), variant CJD, or protease-sensitive prionopathy, and they can also be disease-modifying factors. Pathological overlap may also be possible with AD or progressive dementia, and several patients with prion mutations were initially diagnosed with AD. This review also introduces briefly the diagnosis of prion diseases and the issues with their diagnosis. Since prion diseases have quite heterogeneous phenotypes, a complex analysis, a combination of genetic screening, cerebrospinal fluid biomarker analysis and imaging technologies could improve the early disease diagnosis. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | DOVE MEDICAL PRESS LTD | - |
dc.relation.isPartOf | NEUROPSYCHIATRIC DISEASE AND TREATMENT | - |
dc.subject | CREUTZFELDT-JAKOB-DISEASE | - |
dc.subject | GERSTMANN-STRAUSSLER-SCHEINKER | - |
dc.subject | FATAL FAMILIAL INSOMNIA | - |
dc.subject | CODON 210 MUTATION | - |
dc.subject | PROTEIN GENE | - |
dc.subject | PATHOGENIC MUTATIONS | - |
dc.subject | POINT MUTATION | - |
dc.subject | ALZHEIMERS-DISEASE | - |
dc.subject | V180I MUTATION | - |
dc.subject | R208H MUTATION | - |
dc.title | Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000441728500001 | - |
dc.identifier.doi | 10.2147/NDT.S165445 | - |
dc.identifier.bibliographicCitation | NEUROPSYCHIATRIC DISEASE AND TREATMENT, v.14, pp.2067 - 2085 | - |
dc.identifier.scopusid | 2-s2.0-85057568590 | - |
dc.citation.endPage | 2085 | - |
dc.citation.startPage | 2067 | - |
dc.citation.title | NEUROPSYCHIATRIC DISEASE AND TREATMENT | - |
dc.citation.volume | 14 | - |
dc.contributor.affiliatedAuthor | Bagyinszky, Eva | - |
dc.contributor.affiliatedAuthor | Giau, Vo Van | - |
dc.contributor.affiliatedAuthor | An, Seong Soo A. | - |
dc.type.docType | Review | - |
dc.subject.keywordAuthor | genetics | - |
dc.subject.keywordAuthor | mutation | - |
dc.subject.keywordAuthor | prion | - |
dc.subject.keywordAuthor | PRNP gene | - |
dc.subject.keywordAuthor | Creutzfeldt-Jakob disease | - |
dc.subject.keywordAuthor | Gerstmann-Straussler-Scheinker disease | - |
dc.subject.keywordAuthor | fatal familial insomnia | - |
dc.subject.keywordAuthor | Alzheimer&apos | - |
dc.subject.keywordAuthor | s disease | - |
dc.subject.keywordAuthor | diagnosis | - |
dc.subject.keywordPlus | CREUTZFELDT-JAKOB-DISEASE | - |
dc.subject.keywordPlus | GERSTMANN-STRAUSSLER-SCHEINKER | - |
dc.subject.keywordPlus | FATAL FAMILIAL INSOMNIA | - |
dc.subject.keywordPlus | CODON 210 MUTATION | - |
dc.subject.keywordPlus | PROTEIN GENE | - |
dc.subject.keywordPlus | PATHOGENIC MUTATIONS | - |
dc.subject.keywordPlus | POINT MUTATION | - |
dc.subject.keywordPlus | ALZHEIMERS-DISEASE | - |
dc.subject.keywordPlus | V180I MUTATION | - |
dc.subject.keywordPlus | R208H MUTATION | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalResearchArea | Psychiatry | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Psychiatry | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
1342, Seongnam-daero, Sujeong-gu, Seongnam-si, Gyeonggi-do, Republic of Korea(13120)031-750-5114
COPYRIGHT 2020 Gachon University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.