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Functional analysis of DCTN1 as a Parkinson disease related gene

Research Project

Project/Area Number 22590947
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionFukuoka University

Principal Investigator

TSUBOI Yoshio  福岡大学, 医学部, 教授 (90291822)

Co-Investigator(Kenkyū-buntansha) YAMADA Tatsuo  福岡大学, 医学部, 教授 (50142211)
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2011: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2010: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords家族制パーキンソン病 / ダイナクチン / Perry 症候群 / TDP-43 / 家族性パーキンソン病 / Perry症候群 / TDP-43 / パーキンソン病 / ダイナクチン遺伝子
Research Abstract

Perry syndrome is characterized by autosomal dominant parkinsonism with mental depression, weight loss and central hypoventilation. It has been thought to be rare disorder, however, after our first report from Japan in 2002, newly discovered families with this syndrome has been discovered throughout the world. DCTN1 gene is identified as a causative gene for Perry syndrome in 2009. Our purpose is to characterize this syndrome clinically and pathologically, in addition, to analyze function andpathogenesis of DCTN1 as a Parkinson disease related gene.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (15 results)

All 2013 2012 2011 2010

All Journal Article (11 results) (of which Peer Reviewed: 3 results) Presentation (4 results)

  • [Journal Article] Autosomal dominant tauopathy with parkinsonism and central hypoventilation.2012

    • Author(s)
      Omoto M, Suzuki S, Ikeuchi T, Ishihara T, Kobayashi T, Tsuboi Y, Ogasawara J, Koga M, Kawai M, Iwaki T, Kanda T.
    • Journal Title

      Neurology

      Volume: 78巻 Pages: 762-764

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Perry 症候群-始まりは一人の患者から2012

    • Author(s)
      坪 井義夫
    • Journal Title

      Medical Science Digest

      Volume: 38 Pages: 2-4

    • Related Report
      2012 Final Research Report
  • [Journal Article] Perry症候群-始まりは一人の患者から-2012

    • Author(s)
      坪井義夫
    • Journal Title

      Medical Science Digest

      Volume: 38 Pages: 2-4

    • Related Report
      2011 Annual Research Report
  • [Journal Article] Autonomic failures in Perry syndrome with DCTN1 mutation2010

    • Author(s)
      Ohshima S, Tsuboi Y, Yamamoto A, Kawakami M, Farrer MJ, Kira J, Shii H.
    • Journal Title

      Parkinsonism and Related Disorders

      Volume: 16巻 Pages: 612-614

    • Related Report
      2012 Final Research Report 2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Perry症候群2010

    • Author(s)
      坪井義夫、山田達夫
    • Journal Title

      MDSJLetters

      Volume: 3巻 Pages: 2-6

    • Related Report
      2012 Final Research Report
  • [Journal Article] 臨床医のための神経病理 Perry 症候群2010

    • Author(s)
      坪 井義夫
    • Journal Title

      Clinical Neuroscience

      Volume: 28 Pages: 366-367

    • Related Report
      2012 Final Research Report
  • [Journal Article] 神経情報伝達と疾患Dynactin変異とPerry症候群モータータンパクと神経変性2010

    • Author(s)
      坪井義夫
    • Journal Title

      実験医学

      Volume: 28 Pages: 746-768

    • Related Report
      2012 Final Research Report
  • [Journal Article] Wszolek ZKElucidating the genetics and pathology of Perry syndrome.2010

    • Author(s)
      Wider C, Dachsel JC, Farrer MJ, DicksonDW, Tsuboi Y
    • Journal Title

      J Neurol Sci.

      Volume: 289巻 Pages: 149-154

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Perry症候群2010

    • Author(s)
      坪井義夫、山田達夫
    • Journal Title

      MDSJ Letters

      Volume: 3 Pages: 2-6

    • Related Report
      2010 Annual Research Report
  • [Journal Article] 臨床医のための神経病理 Perry症候群2010

    • Author(s)
      坪井義夫
    • Journal Title

      Clinical Neuroscience

      Volume: 28 Pages: 366-367

    • Related Report
      2010 Annual Research Report
  • [Journal Article] 神経情報伝達と疾患 Dynactin変異とPerry症候群 モータータンパクと神経変性2010

    • Author(s)
      坪井義夫
    • Journal Title

      実験医学

      Volume: 28 Pages: 746-768

    • Related Report
      2010 Annual Research Report
  • [Presentation] Japanese families with Perry syndrome:clinico-genetical aspects.2013

    • Author(s)
      Yoshio Tsuboi
    • Organizer
      Mayo Clinic Department of Neuroscience 8500Seminar Series. Genetic form of Parkinson's Disease Mayo Clinic Jacksonville
    • Place of Presentation
      Florida, USA
    • Year and Date
      2013-03-22
    • Related Report
      2012 Final Research Report
  • [Presentation] TsuboiGenetic form of Parkinson's Disease Perry syndrome2013

    • Author(s)
      Yoshio
    • Organizer
      Japan Seminar for Neurologic Disorders in Osaka
    • Place of Presentation
      NewHankyu Hotel, Osaka
    • Year and Date
      2013-02-16
    • Related Report
      2012 Final Research Report
  • [Presentation] Reevaluation of a Japanese family with Perry syndrome2011

    • Author(s)
      Tsuboi Y, Mishima T, Inoue H, Neshige R, Yamada T
    • Organizer
      The 63th American Academy of Neurology
    • Place of Presentation
      Honolulu, Hawaii
    • Year and Date
      2011-04-19
    • Related Report
      2012 Final Research Report
  • [Presentation] Perry syndrome in Japan.2011

    • Author(s)
      Yoshio Tsuboi
    • Organizer
      International symposium on motor neuron disease and Perry syndrome in Tokyo.
    • Place of Presentation
      Arcadia Tokyo
    • Year and Date
      2011-02-22
    • Related Report
      2012 Final Research Report

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Published: 2010-11-30   Modified: 2019-07-29  

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