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Overseas research for motor neuron disease with TFG gene mutation

Research Project

Project/Area Number 15H05293
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section海外学術
Research Field Neurology
Research InstitutionKyoto Prefectural University of Medicine

Principal Investigator

Naskagawa 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) 梶 龍兒  徳島大学, 大学院医歯薬学研究部(医学系), 教授 (00214304)
能登 祐一  京都府立医科大学, 医学(系)研究科(研究院), 助教 (50637270)
高嶋 博  鹿児島大学, 医歯学域医学系, 教授 (80372803)
Research Collaborator Izumo Shuji  鹿児島大学, 医歯薬総合研究科, 教授
Yamaguchi Masamitsu  京都工芸繊維大学, 応用生物学, 教授
Maeda Kengo  国立病院機構, 滋賀病院神経内科, 医長
Shiga Kensuke  京都府立医科大学, 医学研究科, 准教授
Angelina Lino  ブラジル・サンパウロ大学, 神経内科, 教授
Michael Shy  アイオワ大学, 神経内科, 教授
Luca Padua  カソリック大学, 神経内科, 教授
Choi Byung-Ok  Sungkyunkwan大学, 神経内科, 教授
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥15,860,000 (Direct Cost: ¥12,200,000、Indirect Cost: ¥3,660,000)
Fiscal Year 2017: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2016: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2015: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
KeywordsTFG遺伝子異常 / 神経科学 / 運動ニューロン病 / 遺伝性ニューロパチー / 分子疫学 / アジア・オセアニア地域 / 遺伝性神経疾患 / 運動ニューロン / 末梢神経 / TFG / 遺伝子異常
Outline of Final Research Achievements

We have a special interest in Hereditary Motor Sensory Neuropathy with Proximal dominant involvement (HMSN-P) in Asian-Oceanic area. In 2012, we identified the causative gene of HMSN-P, TRK-fused gene (TFG), by exome sequencing. After the report of TFG, new families with HMSN-P have been reported from Korea, Taiwan, Iran, Brazil, Peru and USA.
We have held the inaugural meeting of Asia-Oceanic Inherited Neuropathy Consortium (AOINC) at University of Malaya, August 22, 2016 and the second AOINC meeting at Kyoto, September 22, 2017. The aims of this international collaboration study are to establish an Asia-Oceanic Inherited Neuropathy (HN) patient registry and an affordable molecular diagnostic system, and to search new therapies for HN and prepare the clinical trial system in this region in collaboration North America/European HN study groups.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Annual Research Report
  • 2015 Annual Research Report
  • Research Products

    (28 results)

All 2018 2017 2016 2015 Other

All Int'l Joint Research (6 results) Journal Article (12 results) (of which Int'l Joint Research: 9 results,  Peer Reviewed: 11 results,  Open Access: 7 results,  Acknowledgement Compliant: 1 results) Presentation (7 results) (of which Int'l Joint Research: 5 results,  Invited: 3 results) Book (1 results) Remarks (1 results) Funded Workshop (1 results)

  • [Int'l Joint Research] University of Malaya(Malaysia)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] University of Sydny(Australia)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] University of Sungkyunkwan(韓国)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] National Yang-Ming University(Taiwan)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] Mahidol University(Thailand)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2017 Annual Research Report
  • [Journal Article] Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy2018

    • Author(s)
      Higuchi Yujiro、Ohtake Akira、Matsuura Eiji、Ueda Takehiro、Toda Tatsushi、Yamashita Sumimasa、Yamada Kenichiro、Koide Takashi、Yaguchi Hiroaki、Mitsui Jun、Ishiura Hiroyuki、Yoshimura Jun、Doi Koichiro、Morishita Shinichi、Sato Ken、Nakagawa Masanori、Yamaguchi Masamitsu、Tsuji Shoji、Takashima Hiroshi
    • Journal Title

      Brain

      Volume: 印刷中 Issue: 6 Pages: 1622-1636

    • DOI

      10.1093/brain/awy104

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Aberrant astrocyte Ca2+ signals “AxCa signals” exacerbate pathological alterations in an Alexander disease model2018

    • Author(s)
      Saito Kozo、Shigetomi Eiji、Yasuda Rei、Sato Ryuichi、Nakano Masakazu、Tashiro Kei、Tanaka Kenji F.、Ikenaka Kazuhiro、Mikoshiba Katsuhiko、Mizuta Ikuko、Yoshida Tomokatsu、Nakagawa Masanori、Mizuno Toshiki、Koizumi Schuichi
    • Journal Title

      Glia

      Volume: 66 Issue: 5 Pages: 1053-1067

    • DOI

      10.1002/glia.23300

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.2018

    • Author(s)
      Fujisaki N, Suwazono S, Suehara M, Nakachi R, Kido M, Fujiwara Y, Oshiro S, Tokashiki T, Takashima H, Nakagawa M.
    • Journal Title

      Intractable Rare Dis Res.

      Volume: 7 Pages: 7-12

    • NAID

      130006507541

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Overexpression of ter94, Drosophila VCP, improves motor neuron degeneration induced by knockdown of TBPH, Drosophila TDP-43.2018

    • Author(s)
      Kushimura Y, Tokuda T, Azuma Y, Yamamoto I, Mizuta I, Mizuno T, Nakagawa M, Ueyama M, Nagai Y, Yoshida H, Yamaguchi M.
    • Journal Title

      Am J Neurodegener Dis.

      Volume: 7 Pages: 11-31

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease2017

    • Author(s)
      Yoshida Tomokatsu、Yasuda Rei、Mizuta Ikuko、Nakagawa Masanori、Mizuno Toshiki、JAPAN Alexander Disease Study Group
    • Journal Title

      European Neurology

      Volume: 77 Issue: 5-6 Pages: 296-302

    • DOI

      10.1159/000475661

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] A muscle ultrasound score in the diagnosis of amyotrophic lateral sclerosis.2017

    • Author(s)
      Tsuji Y, Noto YI, Shiga K, Teramukai S, Nakagawa M, Mizuno T.
    • Journal Title

      Clin Neurophysiol.

      Volume: 3 Issue: 6 Pages: 30070-30076

    • DOI

      10.1016/j.clinph.2017.02.015

    • Related Report
      2017 Annual Research Report 2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study2017

    • Author(s)
      Ando Masahiro、Hashiguchi Akihiro、Okamoto Yuji、Yoshimura Akiko、Hiramatsu Yu、Yuan Junhui、Higuchi Yujiro、Mitsui Jun、Ishiura Hiroyuki、Umemura Ayako、Maruyama Koichi、Matsushige Takeshi、Morishita Shinichi、Nakagawa Masanori、Tsuji Shoji、Takashima Hiroshi
    • Journal Title

      Journal of the Peripheral Nervous System

      Volume: 22 Issue: 3 Pages: 191-199

    • DOI

      10.1111/jns.12228

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan.2017

    • Author(s)
      Mizuta I, Hosomi-Watanabe A, Koizumi T, Mukai M, Hamano A, Tomii Y, Kondo M, Nakagawa M, Tomimoto H, Hirano T, Uchino M, Onodera O, Mizuno T
    • Journal Title

      J Neurol Sci

      Volume: 381 Pages: 62-67

    • DOI

      10.1016/j.jns.2017.08.009

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Analysis of neural crest cells from Charcot?Marie?Tooth disease patients demonstrates disease-relevant molecular signature2017

    • Author(s)
      Kitani-Morii Fukiko、Imamura Keiko、Kondo Takayuki、Ohara Ryo、Enami Takako、Shibukawa Ran、Yamamoto Takuya、Sekiguchi Kazuya、Toguchida Junya、Mizuno Toshiki、Nakagawa Masanori、Inoue Haruhisa
    • Journal Title

      NeuroReport

      Volume: 28 Issue: 13 Pages: 814-821

    • DOI

      10.1097/wnr.0000000000000831

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Modeling drug-induced neuropathy using human iPSCs for predictive toxicology.2016

    • Author(s)
      Ohara R, Imamura K, Morii F, Egawa N, Tsukita K, Enami T, Shibukawa R, Mizuno T, Nakagawa M, Inoue H.
    • Journal Title

      Clin Pharmacol Ther.

      Volume: 9 Issue: 6 Pages: 754-762

    • DOI

      10.1002/cpt.562

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.2016

    • Author(s)
      Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Tsuji S, Takashima .
    • Journal Title

      Ann Neurol.

      Volume: Epub Issue: 4 Pages: 659-672

    • DOI

      10.1002/ana.24612

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] CMTの治療-神経内科の立場から2015

    • Author(s)
      中川正法
    • Journal Title

      Brain and Nerve

      Volume: 1 Pages: 43-50

    • Related Report
      2015 Annual Research Report
  • [Presentation] Charcot-Marie-Tooth disease Patient Registry (CMTPR) in Japan2017

    • Author(s)
      Masanori Nakagawa, Yukiko Tsuji, Yu-ichi Noto, Kensuke Shiga, Toshiki Mizuno,
    • Organizer
      XXIII World congress of Neurology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Clinical and genetic aspects of hereditary neuropathy in Japan2017

    • Author(s)
      Masanori Nakagawa
    • Organizer
      The 2nd AOINC meeting in Kyoto
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Charcot-Marie-Tooth disease Patient Registry in Japan.2016

    • Author(s)
      Masanori Nakagawa, Kensuke Shiga, Yu-ichi Noto, Yukiko Tsuji, Toshiki Mizuno.
    • Organizer
      The 13th International Congress of Human Genetics.
    • Place of Presentation
      Kyoto
    • Year and Date
      2016-04-05
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Charcot-Marie-Tooth disease Patient Registry in Japan2016

    • Author(s)
      Masanori Nakagawa, Kensuke Shiga, Yu-ichi Noto, Yukiko Tsuji, Toshiki Mizuno.
    • Organizer
      The 13th International Congress of Human Genetics.
    • Place of Presentation
      Kyoto, Japan
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Overview of inherited neuropathies in Japan2016

    • Author(s)
      Masanori Nakagawa
    • Organizer
      The inaugural meeting of the Asia-Pacific CMT Consortium
    • Place of Presentation
      University of Malaya, Kuala Lumpur, Malaysia
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] Clinical and genetic aspects of hereditary neuropathy in Japan2016

    • Author(s)
      Masanori Nakagawa
    • Organizer
      International Conference of the Genetic Society of Korea 2016 (ICGSK 2016).
    • Place of Presentation
      Ramada Plaza in Jeju, Korea
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 「シャルコー・マリー・トゥース病患者WEB登録システム」2015

    • Author(s)
      中川正法
    • Organizer
      日本末梢神経学会
    • Place of Presentation
      長野県松本市
    • Year and Date
      2015-09-18
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Book] シャルコー・マリー・トウース病診療マニュアル 改訂2版2015

    • Author(s)
      中川正法 他
    • Total Pages
      181
    • Publisher
      金芳堂
    • Related Report
      2015 Annual Research Report
  • [Remarks] シャルコー・マリー・トウース病の診断・治療・ケアに関する研究

    • URL

      http://cmt-japan.com/

    • Related Report
      2016 Annual Research Report
  • [Funded Workshop] Asia-Oceanic Inherited Neuropathy Consortium2017

    • Related Report
      2017 Annual Research Report

URL: 

Published: 2015-04-16   Modified: 2022-08-30  

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