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The overseas scientific research for the elucidation of the mechanism of a novel familial motor neuron disease with sensory neuropathy originated in Japan

Research Project

Project/Area Number 24406030
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypePartial Multi-year Fund
Section海外学術
Research Field Neurology
Research InstitutionKyoto Prefectural University of Medicine

Principal Investigator

NAKAGAWA Masanori  京都府立医科大学, 医学(系)研究科(研究院), 教授 (50198040)

Co-Investigator(Kenkyū-buntansha) IZUMO Shuji  鹿児島大学, 医歯学総合研究科, 教授 (30143811)
KAJI Ryuji  徳島大学, ヘルスバイオサイエンス研究部, 教授 (00214304)
TAKASHIMA Hiroshi  鹿児島大学, 医歯学総合研究科, 教授 (80372803)
SHIGA Kensuke  京都府立医科大学, 医学研究科, 准教授 (90336751)
Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000)
Fiscal Year 2014: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2013: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2012: ¥8,190,000 (Direct Cost: ¥6,300,000、Indirect Cost: ¥1,890,000)
Keywords脳神経疾患 / 遺伝子 / 神経科学 / 分子遺伝学 / 運動ニューロン病 / TFG遺伝子 / 臨床神経分子遺伝学 / 遺伝性ニューロパチー / 家族性ALS / HMSN-P / 遺伝子診断
Outline of Final Research Achievements

The hereditary motor sensory neuropathy with proximal dominancy (HMSN-P) is a slowly progressive intractable disease and some patients eventually require a tracheostomy with artificial ventilation, mimicking the clinical course of familial amyotrophic lateral sclerosis (FALS). The gene locus has been mapped on the chromosome 3; and the causative gene has been identified, TRK-fused gene (TFG). The purpose of this research is to clarify the global epidemiology, pathomechanism and therapeutic strategy for HMSN-P in collaboration with scientists in Brazil, Italy, USA and Korea. As we expected, new cases with TFG mutations are reported from Germany, Korea, Taiwan, USA and Brazil. We held International Hereditary Neuropathy Symposium in Kyoto at August 31, 2014 and discussed the pathological mechanism of HMSN-P. We agreed with the scientists that TGF mutation closely link with motor neuron disorders like FALS.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Annual Research Report
  • 2012 Annual Research Report
  • Research Products

    (37 results)

All 2015 2014 2013 2012 Other

All Journal Article (21 results) (of which Peer Reviewed: 11 results,  Open Access: 3 results,  Acknowledgement Compliant: 2 results) Presentation (13 results) (of which Invited: 3 results) Book (1 results) Remarks (2 results)

  • [Journal Article] Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease.2015

    • Author(s)
      Noto Y, Nakagawa M, Mizuno T, et al.
    • Journal Title

      J Neurol Neurosurg Psychiatry

      Volume: 86 Issue: 4 Pages: 378-384

    • DOI

      10.1136/jnnp-2014-308211

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Genetic link between Cabeza, a Drosophila homologue of Fused in Sarcoma (FUS), and the EGFR signaling pathway2014

    • Author(s)
      Shimamura M, Nakagawa M, Yamaguchi M et al.
    • Journal Title

      Exp Cell Res

      Volume: 326 Issue: 1 Pages: 36-45

    • DOI

      10.1016/j.yexcr.2014.06.004

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Spreading of amyotrophic lateral sclerosis lesions--multifocal hits and local propagation?2014

    • Author(s)
      Sekiguchi T, Noto Y, Nakagawa M, et al.
    • Journal Title

      J Neurol Neurosurg Psychiatry

      Volume: 85 Issue: 1 Pages: 85-91

    • DOI

      10.1136/jnnp-2013-305617

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 遺伝性ニューロパチー Charcot-Marie-Tooth病2014

    • Author(s)
      中川正法
    • Journal Title

      別冊日本臨床 新領域別症候群シリーズ

      Volume: 27 Pages: 867-873

    • Related Report
      2014 Annual Research Report
  • [Journal Article] 幹細胞研究と神経変性2014

    • Author(s)
      大原 亮、水野敏樹、中川正法、井上治久。
    • Journal Title

      Brain Medical

      Volume: 26 Pages: 2014-2019

    • Related Report
      2014 Annual Research Report
  • [Journal Article] 遺伝性ニューロパチー Charcot-Marie- Tooth病2014

    • Author(s)
      中川正法
    • Journal Title

      別冊日本臨床 新領域別症候群シリーズ

      Volume: 27 Pages: 867-873

    • Related Report
      2013 Annual Research Report
  • [Journal Article] シャルコー・マリー・トウース病とは、どんな病気ですか。2013

    • Author(s)
      中川正法
    • Journal Title

      健

      Volume: 42(4) Pages: 8-10

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Charcot-Marie-Tooth病2013

    • Author(s)
      中川正法
    • Journal Title

      Clinical Neuroscience

      Volume: 31(8) Pages: 980-981

    • NAID

      40022742209

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Charcot-Marie-Tooth病の治療戦略2013

    • Author(s)
      中川正法
    • Journal Title

      Brain Medical

      Volume: 25(3) Pages: 243-250

    • Related Report
      2013 Annual Research Report
  • [Journal Article] 近位筋優位運動感覚ニューロパチーの疾患概念の確立2013

    • Author(s)
      中川正法、髙嶋 博。
    • Journal Title

      神経内科

      Volume: 79(6) Pages: 726-731

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: evidence of activity-dependent conduction block.2013

    • Author(s)
      Noto Y, Misawa S, Mori M, Kawaguchi N, Kanai K, Shibuya K, Isose S, Nasu S, Sekiguchi Y, Beppu M, Ohmori S, Nakagawa M, Kuwabara S.
    • Journal Title

      Clin Neurophysiol.

      Volume: 124(9) Issue: 9 Pages: 1893-8

    • DOI

      10.1016/j.clinph.2012.12.053

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients.2013

    • Author(s)
      Nakamura R, Atsuta N, Watanabe H, Hirakawa A, Watanabe H, Ito M, Senda J, Katsuno M, Tanaka F, Izumi Y, Morita M, Ogaki K, Taniguchi A, Aiba I, Mizoguchi K, Okamoto K, Hasegawa K, Aoki M, Kawata A, Abe K, Oda M, Konagaya M, Imai T, Nakagawa M, Tsuji S, Kaji R, Nakano I, Sobue G.
    • Journal Title

      J Neurol Neurosurg Psychiatry

      Volume: 84 Issue: 12 Pages: 1365-1371

    • DOI

      10.1136/jnnp-2013-306020

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Charcot-Marie-Tooth病に対する治療の進歩2013

    • Author(s)
      中川正法
    • Journal Title

      Annual review 神経2013

      Volume: 2013 Pages: 211-222

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Charcot-Marie-Tboth病に対する治療の進歩2013

    • Author(s)
      中川正法
    • Journal Title

      Annual review 神経

      Pages: 211-222

    • Related Report
      2012 Annual Research Report
  • [Journal Article] Charcot-Marie-Tboth病 1.病態・治療2012

    • Author(s)
      中川正法
    • Journal Title

      最新医学 別冊 新しい診断と治療のABC75 末梢神経障害

      Pages: 152-160

    • Related Report
      2012 Annual Research Report
  • [Journal Article] Chronic Inflammatory Demyelinating Polyneuropathy Due to the Administration of Pegylated Interferon .ALPHA.-2b: A Neuropathology Case Report2012

    • Author(s)
      Shiga K, Tanaka E, Isayama R, Mizuno I, Itoh K, Nakaeawa M.
    • Journal Title

      Internal Medicine

      Volume: 51 Issue: 2 Pages: 217-221

    • DOI

      10.2169/internalmedicine.51.6320

    • NAID

      130002062064

    • ISSN
      0918-2918, 1349-7235
    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Knockdown of the Drosophila Fused in Sarcoma (FUS) homologue causes deficient locomotive behavior and shortening of motoneuron terminal branches.2012

    • Author(s)
      Sasayama, H., Shimamura, M., Tokuda, T., Azuma, Y., Yoshida, T., Mizuno, T., Nakagawa, M., Fujikake, N., Nagai, Y. and Yamaguchi, M
    • Journal Title

      PLoS ONE

      Volume: 7(6), Issue: 6 Pages: e39483-e39483

    • DOI

      10.1371/journal.pone.0039483

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease2012

    • Author(s)
      Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M
    • Journal Title

      J Peripher Nerv Syst

      Volume: 17 Issue: 2 Pages: 206-20

    • DOI

      10.1111/j.1529-8027.2012.00403.x

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Demyelinating Features in Sensory Nerve Conduction in Fisher Syndrome2012

    • Author(s)
      Shiga K, Tsuji Y, Fujii C, Noto Y, Nakagawa M.
    • Journal Title

      Internal Medicine

      Volume: 51 Issue: 17 Pages: 2307-2312

    • DOI

      10.2169/internalmedicine.51.7828

    • NAID

      130002062355

    • ISSN
      0918-2918, 1349-7235
    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.2012

    • Author(s)
      Ishiura H
    • Journal Title

      Am J Hum Genet.

      Volume: 91(2) Issue: 2 Pages: 320-9

    • DOI

      10.1016/j.ajhg.2012.07.014

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Awaji ALS criteria increase the diagnostic sensitivity in patients with bulbar onset.2012

    • Author(s)
      Noto Y, Misawa S, Kanai K, Shibuya K, Isose S, Nasu S, Sekiguchi Y, Fujimaki Y, Nakagawa M, Kuwabara S.
    • Journal Title

      Clin Neurophysiol.

      Volume: 123 Issue: 2 Pages: 382-5

    • DOI

      10.1016/j.clinph.2011.05.030

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Presentation] Charcot-Marie-Tooth病の診療ポイント2014

    • Author(s)
      中川正法
    • Organizer
      第55回日本神経学会学術集会
    • Place of Presentation
      福岡
    • Year and Date
      2014-05-23
    • Related Report
      2014 Annual Research Report 2013 Annual Research Report
    • Invited
  • [Presentation] TFG遺伝子異常が確認されたHMSN-Pの1例2012

    • Author(s)
      中川正法、水田依久子、田邑愛子、笠井高士、吉田誠克、上道知之
    • Organizer
      日本神経学会 第97回近畿地方会
    • Place of Presentation
      大阪
    • Year and Date
      2012-12-08
    • Related Report
      2012 Annual Research Report
  • [Presentation] MPZ遺伝子変異を認めたAdie瞳孔を伴った軸索型Charcot-Marie-Tooth病(CMT2J)の一例2012

    • Author(s)
      徳田直輝、島本早希、森井芙貴子、濱野愛、能登祐一、村西学、笠井高士、滋賀健介、水田依久子、中川正法
    • Organizer
      第98回日本神経学会近畿地方会
    • Place of Presentation
      大阪
    • Year and Date
      2012-12-08
    • Related Report
      2012 Annual Research Report
  • [Presentation] Charcot-Marie-Tboth病診断における神経超音波検査の有用性の検討2012

    • Author(s)
      滋賀健介、能登祐一、水田依久子、中川正法
    • Organizer
      精神・神経疾患研究開発費「難治性ニューロパチーの診断技術と治療法の開発に関する研究」班会議
    • Place of Presentation
      東京
    • Year and Date
      2012-12-03
    • Related Report
      2012 Annual Research Report
  • [Presentation] Charcot-Marie-Tooth病における神経超音波検査の有用性の検討2012

    • Author(s)
      能登祐一、滋賀健介,水田依久子,高嶋博,中川正法
    • Organizer
      第42回日本臨床神経生理学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2012-11-09
    • Related Report
      2012 Annual Research Report
  • [Presentation] 遺伝性ニューロパチーの臨床的、遺伝学的研究 : 自験例60例の検討2012

    • Author(s)
      中川正法、滋賀健介、能登祐一、水田依久子、高嶋 博、橋口昭大
    • Organizer
      第23回日本末梢神経学会学術集会
    • Place of Presentation
      福岡
    • Year and Date
      2012-08-31
    • Related Report
      2012 Annual Research Report
  • [Presentation] シャルコー・マリー・トウース病患者を対象とした自己記入式アンケート調査結果2012

    • Author(s)
      滋賀健介、能登祐一.中川正法
    • Organizer
      第23回日本末梢神経学会学術集会
    • Place of Presentation
      福岡
    • Year and Date
      2012-08-31
    • Related Report
      2012 Annual Research Report
  • [Presentation] CMT1A患者に対するアスコルビン酸治療の効果:軸索興奮性測定による治療前後評価を中心に2012

    • Author(s)
      能登祐一、滋賀健介,藤井ちひろ,辻有希子。中川正法
    • Organizer
      第23回日本末梢神経学会学術集会
    • Place of Presentation
      福岡
    • Year and Date
      2012-08-31
    • Related Report
      2012 Annual Research Report
  • [Presentation] The Japanese Overseas Scientific research : from clinical basis to gene discovery2012

    • Author(s)
      Masanori Nakaeawa.
    • Organizer
      Morning Lecture in Division of Neurology of the Hospital das Clinicas of the University of SaoPaulo School of Medicine
    • Place of Presentation
      Sao Paulo, Brazil
    • Year and Date
      2012-08-02
    • Related Report
      2012 Annual Research Report
  • [Presentation] The Japanese Overseas Scientific research : from clinical basis to gene discovery2012

    • Author(s)
      Masanori Nakaeawa.
    • Organizer
      Lecture in Institute de RehabiHtacao Lucy Montoro
    • Place of Presentation
      Sao Paulo, Brazil
    • Year and Date
      2012-08-02
    • Related Report
      2012 Annual Research Report
  • [Presentation] 遺伝子変異 Up date

    • Author(s)
      中川正法
    • Organizer
      第54回日本神経学会学術集会
    • Place of Presentation
      東京国際フォーラム
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 遺伝性ニューロパチー75例の臨床的、遺伝学的研究

    • Author(s)
      中川正法、能登祐一、水田依久子、滋賀健介、髙嶋 博、橋口昭大
    • Organizer
      第54回日本神経学会学術集会
    • Place of Presentation
      東京国際フォーラム
    • Related Report
      2013 Annual Research Report
  • [Presentation] What are the news in HMSN-P?

    • Author(s)
      Masanori Nakagawa
    • Organizer
      The morning lecture in Sao Paulo University, Department of Neurology
    • Place of Presentation
      サンパウロ大学
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Book] PS細胞を用いた神経変性疾患病態解析2015

    • Author(s)
      森井芙貴子、水野敏樹、中川正法、井上治久
    • Total Pages
      188
    • Publisher
      診断と治療社
    • Related Report
      2014 Annual Research Report
  • [Remarks] http://www.cmt-japan.com/index.html

    • Related Report
      2013 Annual Research Report
  • [Remarks]

    • URL

      http://www.cmt-japan.com/index.html

    • Related Report
      2012 Annual Research Report

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Published: 2012-04-24   Modified: 2019-07-29  

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