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Japan-China collaboration on the investigation of gene mutation and non-invasive perfusion study on patients with moyamoya disease

Research Project

Project/Area Number 26305031
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypePartial Multi-year Fund
Section海外学術
Research Field Neurosurgery
Research InstitutionTokyo Medical and Dental University

Principal Investigator

Nariai Tadashi  東京医科歯科大学, 大学院医歯学総合研究科, 准教授 (00228090)

Research Collaborator Lian Duan  307 PLA Hospital, CErevrovascular Center, Professor and Chief
Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Keywordsmoyamoya disease / RNF213 / CCER2 / DSC-MRI / ASL-MRI / indirect bypass surgery / もやもや病 / CCER2遺伝子 / RNF213遺伝子 / 全エクソーム解析 / 脳循環時間 / 遺伝子
Outline of Final Research Achievements

We established a system to communicate with Dr. Duan Lian, Professor and Chief, Center for CVD in 302 PLA Hospital, Beijing, China, who are now treating world most number of patients with moyamoya disease. Although gene mutation, RNF213 (p.R4859K), exist in more than 80 % of Japanese patients, our analysis revealed that it was detected only in 15% of Chinese patients. Our whole exon sequence analysis could lead to the finding of CCER2 gene as a novel susceptible one for moyamoya disease. We could get information on the detection of the other several novel susceptible gene mutation that were detected in Chinese patients, although it has not been published yet.
We also could achieve another purpose of the present grant by establishing the system to use the same non-invasive cerebral perfusion measurement method by DSC-MRI and ASL-MRI.

Report

(4 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (37 results)

All 2017 2016 2015 2014 Other

All Int'l Joint Research (3 results) Journal Article (8 results) (of which Peer Reviewed: 7 results,  Acknowledgement Compliant: 2 results,  Open Access: 3 results) Presentation (23 results) (of which Int'l Joint Research: 14 results,  Invited: 8 results) Book (3 results)

  • [Int'l Joint Research] 307 PLA Hospital, Beijing(China)

    • Related Report
      2016 Annual Research Report
  • [Int'l Joint Research] Stanford University(米国)

    • Related Report
      2016 Annual Research Report
  • [Int'l Joint Research] 人民解放軍脳血管センター(中国)

    • Related Report
      2015 Research-status Report
  • [Journal Article] Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease.2017

    • Author(s)
      Mukawa M, Nariai T, Onda H, Yoneyama T, Aihara Y, Hirota K, Kudo T, Sumita K, Maehara T, Kawamata T, Kasuya H, Akagawa H.
    • Journal Title

      J Stroke Cerebrovasc Dis.

      Volume: 26 Issue: 1 Pages: 150-161

    • DOI

      10.1016/j.jstrokecerebrovasdis.2016.09.003

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Noninvasive Evaluation of CBF and Perfusion Delay of Moyamoya Disease Using Arterial Spin-Labeling MRI with Multiple Postlabeling Delays: Comparison with 15O-Gas PET and DSC-MRI.2017

    • Author(s)
      Hara S, Tanaka Y, Ueda Y, Hayashi S, Inaji M, Ishiwata K, Ishii K, Maehara T, Nariai T.
    • Journal Title

      AJNR Am J Neuroradiol

      Volume: 38 Issue: 4 Pages: 696-702

    • DOI

      10.3174/ajnr.a5068

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] First autopsy analysis of a neovascularized arterial network induced by indirect bypass surgery for moyamoya disease:2015

    • Author(s)
      Mukawa, M., T. Nariai, M. Inaji, N. Tamada, T. Maehara, Y. Matsushima, K. Ohno, M. Negi, D. Kobayashi
    • Journal Title

      J Neurosurg

      Volume: online Sept 25 Issue: 5 Pages: 1-4

    • DOI

      10.3171/2015.4.jns15155

    • Related Report
      2016 Annual Research Report 2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Systematic validation of RNF213 coding variants in Japanese patients with Moyamoya disease2015

    • Author(s)
      Yosuke Moteki, Hideaki Onda, Hidetoshi Kasuya, Taku Yoneyama, Yoshikazu Okada, Kengo Hirota, Maki Mukawa, Tadashi Nariai, Shohei Mitani, Hiroyuki Akagawa
    • Journal Title

      Journal of the American Heart Association

      Volume: 4 Issue: 5 Pages: 1-10

    • DOI

      10.1161/jaha.115.001862

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Systematic validation of RNF213 coding variants in Japanese patients with Moyamoya disease2015

    • Author(s)
      Moteki Y, Onda H, Kasuya H, Yoneyama T, Okada Y, Hirota K, Mukawa M, Nariai T, Mitani S, Akagawa H
    • Journal Title

      Journal of American Heart Association

      Volume: xx

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] First autopsy analysis of a neo-vascularized arterial network induced by indirect bypass surgery for moyamoya disease2015

    • Author(s)
      Mukawa M, Nariai T et al.
    • Journal Title

      Journal of Neurosurgery

      Volume: xx

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Practical Clinical Use of Dynamic Susceptibility Contrast Magnetic Resonance Imaging (DSC-MRI) for the Surgical Treatment of Moyamoya Disease.2014

    • Author(s)
      5. Ishii Y, Nariai T, Tanaka Y, Mukawa M, Inaji M, Maehara T, Ohno K.
    • Journal Title

      Neurosurgery

      Volume: 74(3) Issue: 3 Pages: 302-309

    • DOI

      10.1227/neu.0000000000000266

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] 間接的血行再建術を用いたもやもや病の治療2014

    • Author(s)
      成相直
    • Journal Title

      小児の脳神経

      Volume: 38 Pages: 388-394

    • Related Report
      2014 Research-status Report
  • [Presentation] Neurite Orientation Dispersion and Density Imaging revealed the brain microstructural ischemic damage in patients with moyamoya disease.2016

    • Author(s)
      Shoko Hara, Masaaki Hori, Syo Murata, Ryo Ueda, Misaki Nakazawa, Yoji Tanaka, Taketoshi Maehara, Shigeki Aoki, and Tadashi Nariai.
    • Organizer
      Society for Neuroscience
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2016-11-12
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] シンポジウム。もやもや病の治療と長期予後。長期フォロー結果から見る小児および成人もやもや病治療の進歩と課題。2016

    • Author(s)
      成相直
    • Organizer
      日本脳神経外科学会第75回学術総会
    • Place of Presentation
      福岡国際会議場、福岡市、福岡県
    • Year and Date
      2016-09-29
    • Related Report
      2016 Annual Research Report
  • [Presentation] Progress and remaining questions on surgical treatment of juvenile patients with moyamoya disease.2016

    • Author(s)
      Nariai, T
    • Organizer
      8th European-Japanese Cerebrovascular Congress.
    • Place of Presentation
      Zurich, Switzerland
    • Year and Date
      2016-06-22
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Novel imaging technique for CBF and cerebrovascular autoregulation in patients with moyamoya disease.2016

    • Author(s)
      Nariai, T
    • Organizer
      8th European-Japanese Cerebrovascular Congress.2016
    • Place of Presentation
      Zurich, Switzerland
    • Year and Date
      2016-06-22
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Chronological Evaluation of Cerebral Hemodynamics by Dynamic Susceptibility Contrast Magnetic Resonance Imaging after Indirect Bypass Surgery for Moyamoya Disease.2016

    • Author(s)
      Y. Ishii, T. Nariai, Y. Tanaka, M. Yamashina, H. Satoh, S. Wakabayashi ,Y. Suyama, H. Aihara, H. Kajikawa, T. Maehara.
    • Organizer
      ISMRM
    • Place of Presentation
      Singapore, Singapore
    • Year and Date
      2016-05-07
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Educational Course: Neuroimaging with PET/MRI. Brain. Perfusion & Permeability Imaging2016

    • Author(s)
      Nariai, T
    • Organizer
      ISMRM
    • Place of Presentation
      Singapore, Singapore
    • Year and Date
      2016-05-07
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] シンポジウム:小児の脳血管障害の現状。小児もやもや病患者の長期フォローから見た進歩と課題-脳機能、新規血管病変、遺伝子変異を中心に-2016

    • Author(s)
      成相直
    • Organizer
      Stroke 2016
    • Place of Presentation
      ロイトン札幌、札幌市、北海道
    • Year and Date
      2016-04-14
    • Related Report
      2016 Annual Research Report
  • [Presentation] Non-invasive evaluation of cerebral blood flow and perfusion delay of moyamoya disease using ASL-MRI with multiple post-labeling delays- comparison with O-15 PET and with DSC-MRI.2015

    • Author(s)
      Shoko Hara , Yoji Tanaka, Yasuhiro Ueda , Shihori Hayashi, Motoki Inaji, Kiichi Ishiwata, Kenji Ishii, Taketoshi Maehara, Tadashi Nariai.
    • Organizer
      10th Asian Oceanian Congress of Neuroradiology
    • Place of Presentation
      Fukuoka, Japan
    • Year and Date
      2015-11-05
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Correlation between clinical presentation of patients with moyamoya disease and hemodynamic parameters measured with dynamic susceptibility contrast magnetic resonance imaging2015

    • Author(s)
      Sakyo Hirai, Tadashi Nariai, Motoki Inaji, Yoji Tanaka, Taketoshi Maehara.
    • Organizer
      10th Asian Oceanian Congress of Neuroradiology
    • Place of Presentation
      Fukuoka, Japan
    • Year and Date
      2015-11-05
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Amelioration of brain metabolism and higher brain function by surgical re-vascularization against adult moyamoya disease. –A positron emission tomography study-.2015

    • Author(s)
      Tadashi Nariai, Takumi Kudo, Motoki Inaji, Chihiro Hosoda, Shihori Hayashi, Taketoshi Maehara, Kiichi Ishiwata, Kenji Ishii.
    • Organizer
      15th INTERIM MEETING OF THE WORLD FEDERATION OF NEUROSURGICAL SOCIETIES.
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2015-09-08
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Analysis of genetic variant RNF213 (c. 14576G>A) in 5 pairs of Japanese identical twins with moyamoya disease of juvenile onset.2015

    • Author(s)
      Tadashi Nariai , Maki Mukawa, Takumi Kudo, Kazuki Sumita, Hideaki Onda, Hidetoshi Kasuya, Taketoshi Maehara, Hiroyuki Akagawa.
    • Organizer
      15th INTERIM MEETING OF THE WORLD FEDERATION OF NEUROSURGICAL SOCIETIES.
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2015-09-08
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Progressive occlusion of intracranial arteries and worsening of ischemic event among patients with adult moyamoya disease.2015

    • Author(s)
      Akihito Sato, Takumi Kudo, Motoki Inaji, Yoji Tanaka, Kiishi Ishiwata, Kenji Ishii, Taketoshi Maehara, Tadashi Nariai
    • Organizer
      4th International Conference on Moyamoya Disease.
    • Place of Presentation
      Berlin, Germany
    • Year and Date
      2015-07-02
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Analysis of genetic variant RNF213 (c. 14576G>A) in 5 pairs of Japanese identical twin with moyamoya disease of juvenile onset.2015

    • Author(s)
      Maki Mukawa, Tadashi Nariai, Takumi Kudo, Kazutaka Sumita, Hideaki Onda, Hidetoshi Kasuya, Taketoshi Maehara, Hiroyuki Akagawa.
    • Organizer
      4th International Conference on Moyamoya Disease.
    • Place of Presentation
      Berlin, Germany
    • Year and Date
      2015-07-02
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Amelioration of brain metabolism and higher brain function by surgical re-vascularization against adult moyamoya disease. –A positron emission tomography study-2015

    • Author(s)
      Takumi Kudo, Tadashi Nariai, Motoki Inaji, Chihiro Hosoda, Shihori Hayashi, Taketoshi Maehara, Kiichi Ishiwata, Kenji Ishii.
    • Organizer
      4th International Conference on Moyamoya Disease.
    • Place of Presentation
      Berlin, Germany
    • Year and Date
      2015-07-02
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Serial measurement of cerebral hemodynamics with ASL-MRI after indirect bypass surgery for patients with moyamoya disease2015

    • Author(s)
      Naoki Taira, Yoji Tanaka, Motoki Inaji, Takumi Kudoh, Taketoshi Maehara, Tadashi Nariai.
    • Organizer
      4th International Conference on Moyamoya Disease.
    • Place of Presentation
      Berlin, Germany
    • Year and Date
      2015-07-02
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Time course of flair ivy sign of moyamoya disease before and after indirect bypass surgery.2015

    • Author(s)
      Keisuke Ohnaka, Tadashi Nariai, Takumi Kudou, Motoshige Yamashina, Youji Tanaka, Taketoshi Maehara.
    • Organizer
      4th International Conference on Moyamoya Disease.
    • Place of Presentation
      Berlin, Germany
    • Year and Date
      2015-07-02
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] PET H215O Study in Moyamoya Disease and the Other Chronic Occlusive CVD.2015

    • Author(s)
      Tadashi Nariai
    • Organizer
      Neueoradiological Seminar at Stanford University.
    • Place of Presentation
      Palo Alto, CA, USA
    • Year and Date
      2015-06-12
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] 間接的血行再建術を主としたもやもや病に対する外科治療2015

    • Author(s)
      成相直
    • Organizer
      Stroke 2015
    • Place of Presentation
      広島市
    • Year and Date
      2015-03-26
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] Treatment of Adult patients with Moyamoya Disease Based On Hemodynamic Measurement with perfusion MRI and PET and indirect bypass procedures2014

    • Author(s)
      Nariai T, et al.
    • Organizer
      9th World Stroke Congress
    • Place of Presentation
      Istanbul, Turkey
    • Year and Date
      2014-10-22 – 2014-10-25
    • Related Report
      2014 Research-status Report
  • [Presentation] Treatment of juvenile patients with moyamoya disease based on non-invasive measurement of cerebral perfusion with MRI.2014

    • Author(s)
      Nariai T, et al.
    • Organizer
      9th World Stroke Congress
    • Place of Presentation
      Istanbul, Turkey
    • Year and Date
      2014-10-22 – 2014-10-25
    • Related Report
      2014 Research-status Report
  • [Presentation] PET脳循環定量計測による閉塞性脳血管障害患者の血管反応性の検討-血管拡張不全と収縮不全の解離2014

    • Author(s)
      成相直
    • Organizer
      第33回 The Mt. Fuji Workshop on CVD
    • Place of Presentation
      盛岡市
    • Year and Date
      2014-08-30
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] Clinical use of various technique to measure cerebral hemodynamics for surgical treatment of moyamoya disease2014

    • Author(s)
      Nariai T
    • Organizer
      The Fourth International Conference on Moyamoya Disease
    • Place of Presentation
      Beijing, China
    • Year and Date
      2014-06-28
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] 慢性脳虚血に対しての新生動脈造成術としての間接的血行再建術。2014

    • Author(s)
      成相直
    • Organizer
      第23回脳神経外科手術と機器学会
    • Place of Presentation
      福岡市
    • Year and Date
      2014-04-18 – 2014-04-19
    • Related Report
      2014 Research-status Report
    • Invited
  • [Book] もやもや病に対する間接的血行再建術。In プライム脳神経外科2017

    • Author(s)
      成相直
    • Publisher
      三輪書店
    • Related Report
      2016 Annual Research Report
  • [Book] もやもや病(ウィリス動脈輪閉塞症). In: 福井次矢, 高木誠, 小室一成, editors. 今日の治療指針2016年版.2016

    • Author(s)
      成相直
    • Total Pages
      2
    • Publisher
      医学書院
    • Related Report
      2016 Annual Research Report
  • [Book] 今日の治療指針2016年版 「もやもや病」2016

    • Author(s)
      成相直
    • Total Pages
      2
    • Publisher
      医学書院
    • Related Report
      2015 Research-status Report

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Published: 2014-04-04   Modified: 2022-02-16  

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