We are analyzing https://link.springer.com/article/10.1007/s10048-008-0138-0.

Title:
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease | Neurogenetics
Description:
Mutations 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 ≤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.
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Keywords {🔍}

article, disease, google, scholar, pubmed, kim, mutations, earlyonset, parkinson, neurology, korea, parkinsons, cas, parkin, university, park, pink, south, gene, mutation, department, medicine, lee, lrrk, patients, neurol, korean, college, woo, genetic, genes, heterozygous, parkinsonism, analysis, yun, tan, hedrich, privacy, cookies, content, choi, myoung, snca, exon, sca, genet, author, information, publish, research,

Topics {✒️}

jong sam baik phil hyu lee month download article/chapter yun joong kim sporadic early-onset parkinson sporadic early-onset parkinsonism suk yun kang myoung chong lee early-onset parkinson disease sang-jin kim sun ju chung joong-seok kim myung sik lee young ho sohn myoung soo woo jin-ho kim seok woo yong jae woo kim young-hee sung full article pdf early-onset parkinson early-onset parkinsonism hae-won shin mee young park article neurogenetics aims south korea privacy choices/manage cookies author information authors original park8 family identified genetic variants hyeo-il ma article choi autosomal dominant inheritance wu-chou yh parkinson disease mutation movement disorders genes heterozygous g2385r polymorphism disease gene rearrangements alpha-synuclein gene lewy body parkinson european economic area chul hyoung lyoo variable park2 mutations gwinn-hardy asan medical center heterozygous nonsense mutation compound heterozygous mutation gene dosage studies conditions privacy policy large german family

Questions {❓}

Gwinn-Hardy K (2004) When is ataxia not ataxia?
Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K et al (2006) Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?

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         headline:Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
         description:Mutations 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 ≤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.
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            Molecular Medicine
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      headline:Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
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         Molecular Medicine
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      affiliation:
            name:Yonsei University
            address:
               name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
               type:PostalAddress
            type:Organization
      name:Chul Hyoung Lyoo
      affiliation:
            name:Yonsei University
            address:
               name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
               type:PostalAddress
            type:Organization
      name:Phil Hyu Lee
      affiliation:
            name:Yonsei University
            address:
               name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
               type:PostalAddress
            type:Organization
      name:Jong Sam Baik
      affiliation:
            name:Inje University
            address:
               name:Department of Neurology, College of Medicine, Inje University, Gimhae, South Korea
               type:PostalAddress
            type:Organization
      name:Sang-Jin Kim
      affiliation:
            name:Inje University
            address:
               name:Department of Neurology, College of Medicine, Inje University, Gimhae, South Korea
               type:PostalAddress
            type:Organization
      name:Mee Young Park
      affiliation:
            name:Yeungnam University
            address:
               name:Department of Neurology, College of Medicine, Yeungnam University, Gyeongsan, South Korea
               type:PostalAddress
            type:Organization
      name:Young Ho Sohn
      affiliation:
            name:Yonsei University
            address:
               name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
               type:PostalAddress
            type:Organization
      name:Jin-Ho Kim
      affiliation:
            name:Chosun University
            address:
               name:Department of Neurology, College of Medicine, Chosun University, Gwangju, South Korea
               type:PostalAddress
            type:Organization
      name:Jae Woo Kim
      affiliation:
            name:Dong-A University
            address:
               name:Department of Neurology, College of Medicine, Dong-A University, Busan, South Korea
               type:PostalAddress
            type:Organization
      name:Myung Sik Lee
      affiliation:
            name:Yonsei University
            address:
               name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
               type:PostalAddress
            type:Organization
      name:Myoung Chong Lee
      affiliation:
            name:Asan Medical Center, University of Ulsan College of Medicine
            address:
               name:Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
               type:PostalAddress
            type:Organization
      name:Dong-Hyun Kim
      affiliation:
            name:Hallym University
            address:
               name:Department of Social and Preventive Medicine, College of Medicine, Hallym University, Anyang-si, South Korea
               type:PostalAddress
            type:Organization
      name:Yun Joong Kim
      affiliation:
            name:Hallym University
            address:
               name:Department of Neurology, Hallym University Sacred Heart Hospital, ILSONG Institute of Life Science, Hallym University, Anyang-si, Korea
               type:PostalAddress
            type:Organization
            name:Hallym University
            address:
               name:Department of Neurology, College of Medicine, Hallym University, Anyang-si, South Korea
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Department of Neurology, Hallym University Sacred Heart Hospital, ILSONG Institute of Life Science, Hallym University, Anyang-si, Korea
      name:Department of Neurology, Hallym University Sacred Heart Hospital, ILSONG Institute of Life Science, Hallym University, Anyang-si, Korea
      name:Department of Neurology, College of Medicine, Hallym University, Anyang-si, South Korea
      name:Department of Neurology, College of Medicine, Hallym University, Anyang-si, South Korea
      name:Department of Neurology, College of Medicine, Gachon University, Incheon, South Korea
      name:Department of Neurology, School of Medicine, Ajou University, Suwon, South Korea
      name:Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
      name:Department of Neurology, College of Medicine, The Catholic University of Korea, Seoul, South Korea
      name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
      name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
      name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
      name:Department of Neurology, College of Medicine, Inje University, Gimhae, South Korea
      name:Department of Neurology, College of Medicine, Inje University, Gimhae, South Korea
      name:Department of Neurology, College of Medicine, Yeungnam University, Gyeongsan, South Korea
      name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
      name:Department of Neurology, College of Medicine, Chosun University, Gwangju, South Korea
      name:Department of Neurology, College of Medicine, Dong-A University, Busan, South Korea
      name:Department of Neurology, College of Medicine, Yonsei University, Seoul, South Korea
      name:Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
      name:Department of Social and Preventive Medicine, College of Medicine, Hallym University, Anyang-si, South Korea
      name:Department of Neurology, Hallym University Sacred Heart Hospital, ILSONG Institute of Life Science, Hallym University, Anyang-si, Korea
      name:Department of Neurology, College of Medicine, Hallym University, Anyang-si, South Korea
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