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Autozygosity mapping in consanguineous families with Parkinson's disease

Research Project

Project/Area Number 23791003
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Neurology
Research InstitutionJuntendo University

Principal Investigator

LI Yuanzhe  順天堂大学, 医学研究科, 博士研究員 (40549292)

Project Period (FY) 2011 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2011: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Keywords家族性パーキンソン病 / オート接合性マッピング / 劣性遺伝子パーキンソン病 / パーキンソン病 / 血族婚 / 劣性遺伝性PD
Research Abstract

This study identified a candidate gene for Parkinson’s disease by autozygosity mapping and whole-exome sequencing in consanguineous families with Parkinson’s disease (FPD). Accordingly, I performed mutation analysis of the candidate gene on 500 patients with FPD. However, no mutations were detected. I still cannot conclude whether the gene is the gene responsible for FPD. Therefore, further investigations areneeded to identify the gene responsible for FPD.

Report

(3 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Research-status Report
  • Research Products

    (11 results)

All 2013 2012 2011

All Journal Article (7 results) (of which Peer Reviewed: 7 results) Presentation (4 results)

  • [Journal Article] Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, andCBS2013

    • Author(s)
      Ogaki K
    • Journal Title

      Parkinsonism & Related Disorders

      Volume: 19 Issue: 1 Pages: 15-20

    • DOI

      10.1016/j.parkreldis.2012.06.019

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] VPS35 Mutation in Japanese Patients with Typical Parkinson’s Disease2013

    • Author(s)
      Ando M, Kokubo Y.
    • Journal Title

      Movement Disorders

      Volume: 15;27(11) Issue: 11 Pages: 175-182

    • DOI

      10.1002/mds.25145

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis2012

    • Author(s)
      Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G
    • Journal Title

      Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis

      Volume: 33 Issue: 10 Pages: 2527.e11-2527.e16

    • DOI

      10.1016/j.neurobiolaging.2012.05.011

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Pseudo-heterozygous rearrangement mutation of parkin2012

    • Author(s)
      Fumayama M, et al
    • Journal Title

      Movement Disorders

      Volume: vol.27 Issue: 4 Pages: 552-555

    • DOI

      10.1002/mds.24906

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Visual grasping in frontotemporal dementia and parkinsonism linked to chromosome 17 (microtubule-associated with protein tau) : a comparison of N-Isopropyl-p-[(123)I]-iodoamphetamine brain perfusion single photon emission computed tomography analysis with progressive supranuclear palsy2011

    • Author(s)
      Ogaki K
    • Journal Title

      Mov Disord

      Volume: 26(3) Issue: 3 Pages: 561-3

    • DOI

      10.1002/mds.23461

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] PLA2G6 variant in Parkinson's disease2011

    • Author(s)
      Tomiyama H, Kokubo Y, Kuzuhara S
    • Journal Title

      J Hum Genet

      Volume: 56(5) Issue: 5 Pages: 401-403

    • DOI

      10.1038/jhg.2011.22

    • NAID

      10030659472

    • Related Report
      2012 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children2011

    • Author(s)
      Hayashi C, Funayama M, Li Y, Kamiya K, Kawano A, Suzuki M, Hattori N, Ikeda K
    • Journal Title

      Int J Pediatr Otorhinolaryngol

      Volume: 75(2) Issue: 2 Pages: 211-4

    • DOI

      10.1016/j.ijporl.2010.11.001

    • Related Report
      2012 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [Presentation] Genetic analysis of the GBA gene in Japanese familial Parkinson’s disease.2012

    • Author(s)
      Li Y
    • Organizer
      ASHG 2012 Annual Meeting
    • Place of Presentation
      San Francisco, US.
    • Related Report
      2012 Annual Research Report
  • [Presentation] 日本人若年性パーキンソン病におけるFBXO7遺伝子変異解析2012

    • Author(s)
      李元哲
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] Analysis of the FBXO7 gene in early-onset parkinsonism.2011

    • Author(s)
      Yuanzhe Li
    • Organizer
      国際人類遺伝学会第12回大会
    • Place of Presentation
      カナダ・モントリオール
    • Related Report
      2011 Research-status Report
  • [Presentation] 血族婚のあるパーキンソン病におけるオート接合性マッピンクの検討(続報)2011

    • Author(s)
      李元哲
    • Organizer
      第52回神経学会総会
    • Place of Presentation
      名古屋
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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