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2011 Fiscal Year Final Research Report

Identification of new gene for familial parkinsonism

Research Project

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Project/Area Number 22790829
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionJuntendo University

Principal Investigator

FUNAYAMA Manabu  順天堂大学, 医学部, 准教授 (70468578)

Project Period (FY) 2010 – 2011
Keywords遺伝子 / 変異 / 連鎖 / エクソーム / パーキンソン病 / 多型
Research Abstract

To identify new genes for familial parkinsonism, two families with late-onset autosomal recessive parkinsonism, who were from the same town, were investigated. Genome-wide linkage analysis and exome analysis showed that these families have uncommon founders. Filtering of variants from exome analysis identified 6 candidate variants for family 1 and 19 candidate variants for family 2.

  • Research Products

    (18 results)

All 2012 2011 2010

All Journal Article (9 results) (of which Peer Reviewed: 9 results) Presentation (9 results)

  • [Journal Article] Pseudo-heterozygous rearrangement mutation of parkin2012

    • Author(s)
      Funayama M, Yoshino H, Li Y, Kusaka H, Tomiyama H, Hattori N
    • Journal Title

      Mov Disord

    • Peer Reviewed
  • [Journal Article] DJ-1 associates with synaptic membranes2011

    • Author(s)
      Usami Y, Hatano T, Imai S, Kubo S, Sato S, Saiki S, Fujioka Y, Ohba Y, Sato F, Funayama M, Eguchi H, Shiba K, Ariga H, Shen J, Hattori N
    • Journal Title

      Neurobiol Dis

      Volume: 43 Pages: 651-62

    • Peer Reviewed
  • [Journal Article] PLA2G6 variant in Parkinson's disease2011

    • Author(s)
      Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N
    • Journal Title

      Hum Genet

      Volume: 56 Pages: 401-403

    • Peer Reviewed
  • [Journal Article] Prevalence of GJB2 Causing Recessive Profound Non-Syndromic Deafness in Japanese Children2011

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

      Int J Pediatr Otorhinolaryngol

      Volume: 75 Pages: 211-214

    • Peer Reviewed
  • [Journal Article] Clinical course of the first Asian family with parkinsonism related to SNCA triplication2010

    • Author(s)
      Sekine T, Kagata H, Funayama M, Li Y, Yoshino H, Tomiyama H, Hattori N
    • Journal Title

      Mov Disord

      Volume: 25 Pages: 2871-2875

    • Peer Reviewed
  • [Journal Article] Rapid screening of ATP13A2 variant with high-resolution melting analysis2010

    • Author(s)
      Funayama M, Tomiyama H, Wu RM, Ogaki K, Yoshino H, Mizuno Y, Hattori N
    • Journal Title

      Mov Disord

      Volume: 25 Pages: 2434-2437

    • Peer Reviewed
  • [Journal Article] Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism2010

    • Author(s)
      Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N
    • Journal Title

      Neurology

      Volume: 75 Pages: 1356-1361

    • Peer Reviewed
  • [Journal Article] Impaired in vivo dopamine release in parkin knockout mice2010

    • Author(s)
      Oyama G, Yoshimi K, Natori S, Chikaoka Y, Ren YR, Funayama M, Shimo Y, Takahashi R, Nakazato N, Kitazawa S, Hattori N
    • Journal Title

      Brain Research

      Volume: 1352 Pages: 214-222

    • Peer Reviewed
  • [Journal Article] No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients2010

    • Author(s)
      Li L, Funayama M, Tomiyama H, Li Y, Yoshino H, Sasaki R, Kokubo Y, Kuzuhara S, Mizuno Y, Hattori N
    • Journal Title

      Neurosci Lett

      Volume: 479 Pages: 245-248

    • Peer Reviewed
  • [Presentation] Parkin遺伝子のpseudo-heterozygous rearrangement変異2011

    • Author(s)
      舩山学, 日下弘道, 吉野浩代, 李元哲, 富山弘幸, 服部信孝
    • Organizer
      第56回日本人類遺伝学会・第11回東アジア人類遺伝学会共同大会
    • Place of Presentation
      幕張メッセ(千葉)
    • Year and Date
      2011-11-11
  • [Presentation] Analyses of compound heterozygous rearrangements of parkin2011

    • Author(s)
      Funayama M, Kusaka H, Yoshino H, Li Y, Ogaki K, Tomiyama H, Hattori N
    • Organizer
      ASHG/ICHG 2011 Meeting
    • Place of Presentation
      モントリオールコンベンションセンター(モントリオール,カナダ)
    • Year and Date
      2011-10-13
  • [Presentation] Clinicogenetic study of patients with FTDP-17(MAPT) in Japan2011

    • Author(s)
      Ogaki K, Li Y, Takanashi1 M, Ishikawa1 K, Kobayashi T, Nakanishi A, Nonaka T, Hasegawa M, Kishi M, Yoshino H, Funayama M, Shioya K, Yokochi M, Sasaki R, Kokubo Y, Kuzuhara S, Motoi Y, Tomiyama H, Hattori N
    • Organizer
      ASHG/ICHG 2011 Meeting
    • Place of Presentation
      モントリオールコンベンションセンター(モントリオール,カナダ)
    • Year and Date
      2011-10-13
  • [Presentation] 常染色体劣性遺伝性パーキンソン病の連鎖解析2011

    • Author(s)
      舩山学, 李元哲, 佐竹渉, 吉野浩代, 今道洋子, 富山弘幸, 松浦英治, 野元三治, 有村公良, 戸田達史, 高嶋博, 服部信孝
    • Organizer
      第5回パーキンソン病・運動障害疾患コングレス
    • Place of Presentation
      品川プリンスホテル(東京)
    • Year and Date
      2011-10-07
  • [Presentation] Genetic Analysis for Parkinson's Disease in Juntendo University Tokyo, Japan2011

    • Author(s)
      Funayama M, Tomiyama H, Hattori N
    • Organizer
      2011 Meeting of the Genetic Epidemiology of Parkinson's Disease Consortium
    • Place of Presentation
      ノースショア大学(シカゴ,アメリカ合衆国)
    • Year and Date
      2011-09-19
  • [Presentation] SNP chipによる家族性パーキンソン病の連鎖解析と新規原因遺伝子探索2011

    • Author(s)
      舩山学, 李元哲, 佐竹渉, 吉野浩代, 今道洋子, 富山弘幸, 松浦英治, 野元三治, 有村公良, 高嶋博, 戸田達史, 水野美邦, 服部信孝
    • Organizer
      第52回日本神経学会総会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Year and Date
      2011-05-20
  • [Presentation] アジア初のα-synuclein遺伝子三重複変異2010

    • Author(s)
      舩山学、関根威、加賀谷肇、李元哲、吉野浩代、富山弘幸、服部信孝
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮ソニックシティ(大宮)
    • Year and Date
      2010-10-29
  • [Presentation] SNCA三重複変異の同定2010

    • Author(s)
      舩山学、関根威、加賀谷肇、李元哲、吉野浩代、富山弘幸、服部信孝
    • Organizer
      第4回パーキンソン病・運動障害疾患コングレス
    • Place of Presentation
      京都ホテルオークラ(京都)
    • Year and Date
      2010-10-08
  • [Presentation] SNP chipによる家族性パーキンソン病のlinkage解析(続報)2010

    • Author(s)
      舩山学, 吉野浩代, 今道洋子, 李元哲, 松浦英治, 有村公良, 高嶋博, 野元三治, 富山弘幸, 水野美邦, 服部信孝
    • Organizer
      第51回日本神経学会総会
    • Place of Presentation
      東京国際フォーラム(東京)
    • Year and Date
      2010-05-20

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Published: 2013-07-31  

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