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Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease

DC FieldValueLanguage
dc.contributor.author류철형-
dc.contributor.author손영호-
dc.contributor.author이명식-
dc.contributor.author이필휴-
dc.date.accessioned2015-05-19T17:07:17Z-
dc.date.available2015-05-19T17:07:17Z-
dc.date.issued2008-
dc.identifier.issn1364-6745-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/107541-
dc.description.abstractMutations in five PARK genes (SNCA, PARKIN, DJ-1, PINK1, and LRRK2) are well-established genetic causes of Parkinson disease (PD). Recently, G2385R substitution in LRRK2 has been determined as a susceptibility allele in Asian PD. The objective of this study is to determine the frequency of mutations in these PARK genes in a Korean early-onset Parkinson disease (EOPD) cohort. The authors sequenced 35 exons in SNCA, PARKIN, DJ-1, PINK1, and LRRK2 in 72 unrelated EOPD (age-at-onset <or=50) recruited from ten movement disorders clinics in South Korea. Gene dosage change of the aforementioned genes was studied using multiple ligation-dependent probe amplification. We found four patients with PARKIN mutations, which were homozygous deletion of exon 4, compound heterozygous deletion of exon 2 and exon 4, heterozygous deletion of exon 4, and heterozygous nonsense mutation (Q40X). Four patients had PINK1 mutations; a compound heterozygous mutation (N367S and K520RfsX522) and three heterozygous mutations (G32R, R279H, and F385L). A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance. Nine patients (12.5%) had heterozygous G2385R polymorphism of LRRK2, whereas none had G2019S mutation. However, no mutations were detected in DJ-1 and UCHL1 in our series. We identified genetic variants in PARKIN, PINK1, LRRK2, and SNCA as a cause or genetic risk factors for PD in 25% of Korean EOPD, and mutation of PARKIN was the most common genetic cause-
dc.description.statementOfResponsibilityopen-
dc.format.extent263~269-
dc.relation.isPartOfNEUROGENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleAnalysis of PARK genes in a Korean cohort of early-onset Parkinson disease-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학)-
dc.contributor.googleauthorJung Mi Choi-
dc.contributor.googleauthorMyoung Soo Woo-
dc.contributor.googleauthorHyeo-Il Ma-
dc.contributor.googleauthorSuk Yun Kang-
dc.contributor.googleauthorYoung-Hee Sung-
dc.contributor.googleauthorSeok Woo Yong-
dc.contributor.googleauthorSun Ju Chung-
dc.contributor.googleauthorJoong-Seok Kim-
dc.contributor.googleauthorHae-won Shin-
dc.contributor.googleauthorChul Hyoung Lyoo-
dc.contributor.googleauthorPhil Hyu Lee-
dc.contributor.googleauthorJong Sam Baik-
dc.contributor.googleauthorSang-Jin Kim-
dc.contributor.googleauthorMee Young Park-
dc.contributor.googleauthorYoung Ho Sohn-
dc.contributor.googleauthorJin-Ho Kim-
dc.contributor.googleauthorJae Woo Kim-
dc.contributor.googleauthorMyung Sik Lee-
dc.contributor.googleauthorMyoung Chong Lee-
dc.contributor.googleauthorDong-Hyun Kim-
dc.contributor.googleauthorYun Joong Kim-
dc.identifier.doi10.1007/s10048-008-0138-0-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01333-
dc.contributor.localIdA01982-
dc.contributor.localIdA02753-
dc.contributor.localIdA03270-
dc.relation.journalcodeJ02330-
dc.identifier.eissn1364-6753-
dc.identifier.pmidParkinson disease ; Genetics of Parkinson disease ; Mutation of Mendelian genes ; Susceptibility genes of Parkinson disease ; Early-onset Parkinson disease-
dc.identifier.urlhttp://link.springer.com/article/10.1007%2Fs10048-008-0138-0-
dc.subject.keywordParkinson disease-
dc.subject.keywordGenetics of Parkinson disease-
dc.subject.keywordMutation of Mendelian genes-
dc.subject.keywordSusceptibility genes of Parkinson disease-
dc.subject.keywordEarly-onset Parkinson disease-
dc.contributor.alternativeNameLyoo, Chul Hyoung-
dc.contributor.alternativeNameSohn, Young Ho-
dc.contributor.alternativeNameLee, Myung Sik-
dc.contributor.alternativeNameLee, Phil Hyu-
dc.contributor.affiliatedAuthorLyoo, Chul Hyoung-
dc.contributor.affiliatedAuthorSohn, Young Ho-
dc.contributor.affiliatedAuthorLee, Myung Sik-
dc.contributor.affiliatedAuthorLee, Phil Hyu-
dc.rights.accessRightsnot free-
dc.citation.volume9-
dc.citation.number4-
dc.citation.startPage263-
dc.citation.endPage269-
dc.identifier.bibliographicCitationNEUROGENETICS, Vol.9(4) : 263-269, 2008-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

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