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Identification of NIID causative gene with next generation sequencer

Research Project

Project/Area Number 24591257
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionNagoya University

Principal Investigator

SONE Jun  名古屋大学, 医学(系)研究科(研究院), 寄附講座助教 (40513750)

Co-Investigator(Kenkyū-buntansha) KOIKE Haruki  名古屋大学, 医学部附属病院, 講師 (80378174)
TANAKA Fumiaki  名古屋大学, 大学院医学系研究科, 准教授 (30378012)
Co-Investigator(Renkei-kenkyūsha) MORISHITA Shinichi  東京大学, 新領域創成科学研究科, 教授 (90292854)
SUGANO Sumio  東京大学, 新領域創成科学研究科, 教授 (60162848)
Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2012: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
KeywordsNIID / 核内封入体 / 皮膚生検 / 次世代シークエンサー / 連鎖解析 / ゲノム解析 / 神経変性疾患
Outline of Final Research Achievements

We studied Exome and Whole Genome sequence of 2 familial NIID pedigrees and sporadic NIID cases. We performed Linkage analysis with MERLIN software and obtained almost same result of Linkage analysis with micro satellite markers. We concluded that causative gene of NIID must be exist within this position. We did not find out NIID causative gene, however, we have to study many subjects continuously to find NIID causative gene finally. Besides, the number of sporadic NIID cases exhibiting dementia is growing recently and we include more sporadic NIID cases in our study, and report in the paper that sporadic NIID cases also diagnosed by skin biopsy.

Report

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

    (18 results)

All 2014 2013 Other

All Journal Article (2 results) (of which Peer Reviewed: 2 results,  Open Access: 1 results) Presentation (16 results)

  • [Journal Article] Neuronal intranuclear inclusion disease presenting with resting tremor2014

    • Author(s)
      Kitagawa N, Sone J, Sobue G,Kuroda M, Sakurai M
    • Journal Title

      Case Rep Neurol.

      Volume: 6(2) Issue: 2 Pages: 176-80

    • DOI

      10.1159/000363687

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy.2014

    • Author(s)
      Sone J, Kitagawa N, Sugawara E, Iguchi M, Nakamura R, Koike H, Iwasaki Y, Yoshida M, Takahashi T, Chiba S, Katsuno M, Tanaka F, Sobue G
    • Journal Title

      J Neurol Neurosurg Psychiatry

      Volume: 85(3) Issue: 3 Pages: 354-356

    • DOI

      10.1136/jnnp-2013-306084

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] 皮膚生検により診断したNeuronal intranuclear inclusion disease 15例の検討2014

    • Author(s)
      曽根淳、荒木邦彦、藤岡祐介、稲垣智則、桝田道人、岩崎靖、吉田眞理、田中章景、祖父江元
    • Organizer
      第33回日本認知症学会学術集会
    • Place of Presentation
      パシフィコ横浜、神奈川県横浜市
    • Year and Date
      2014-12-01
    • Related Report
      2014 Annual Research Report
  • [Presentation] 皮膚生検によるNeuronal intranuclear inclusion diseaseの診断について2014

    • Author(s)
      曽根淳、北川尚之、岩崎靖、吉田眞理、田中章景、祖父江 元
    • Organizer
      第32回日本神経治療学会総会
    • Place of Presentation
      東京ドームホテル、東京都文京区
    • Year and Date
      2014-11-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] Antemortem diagnosis of Neuronal intranuclear inclusion disease.2014

    • Author(s)
      Jun Sone, Naoyuki Kitagawa, Tomonori Inagaki, Yasushi Iwasaki,Mari Yoshida, Fumiaki Tanaka, Gen Sobue
    • Organizer
      Neuroscience 2014
    • Place of Presentation
      Washington convention center, Washington, USA
    • Year and Date
      2014-11-19
    • Related Report
      2014 Annual Research Report
  • [Presentation] Strategy to discover new ALS causative genetic variants in Japanese ALS patients.2014

    • Author(s)
      J.Sone, R.Nakamura, M.Nakatochi, H.Watanabe, N.Atsuta, F.Tanaka, G.Sobue.
    • Organizer
      64th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego convention center, San Diego, USA
    • Year and Date
      2014-10-21
    • Related Report
      2014 Annual Research Report
  • [Presentation] Analysis of major amyotrophic lateral sclerosis genes in Japan.2014

    • Author(s)
      Ryoichi Nakamura, Jun Sone, Naoki Atsuta, Hazuki Watanabe, Akihiro Hirakawa, Hirohisa Watanabe, Mizuki Ito, Jo Senda, Masahisa Katsuno, Fumiaki Tanaka, Yuishin Izumi, Mitsuya Morita, Kotaro Ogaki, Akira Taniguchi, Ikuko Aiba,Koichi Mizoguchi, Koichi Okamoto, Kazuko Hasegawa, Masashi Aoki, Akihiro Kawata
    • Organizer
      64th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego convention center, San Diego, USA
    • Year and Date
      2014-10-21
    • Related Report
      2014 Annual Research Report
  • [Presentation] Clinical feature of 19 cases of Neuronal intranuclear inclusion disease diagnosed by skin biopsy.2014

    • Author(s)
      Jun Sone, Naoyuki Kitagawa, Eriko Sugawara, Masaaki Iguchi, Tomonori Inagaki, Hajime Yoshimura, Junko Ishii, Michi Kawamoto, Keiko Mori, Kunihiko Araki, Michihito Masuda, Mari Yoshida, Yasushi Iwasaki, Fumiaki Tanaka, Gen Sobue
    • Organizer
      XVIII International Congress of Neuropathology
    • Place of Presentation
      Sheraton Rio Hotel, Rio De Janeiro, Brasil
    • Year and Date
      2014-09-15
    • Related Report
      2014 Annual Research Report
  • [Presentation] 皮膚生検により診断したNeuronal intranuclear inclusion disease 18 例の臨床学的特徴2014

    • Author(s)
      曽根淳、北川尚之、菅原恵梨子、違口正明、稲垣智則、吉村元、石井淳子、川本未知、森恵子、岩崎靖、吉田眞理、田中章景、祖父江元
    • Organizer
      第55回日本神経学会総会
    • Place of Presentation
      福岡国際会議場、福岡県福岡市
    • Year and Date
      2014-05-24
    • Related Report
      2014 Annual Research Report
  • [Presentation] 皮膚生検によるNeuronal intranuclear inclusion diseaseの診断2013

    • Author(s)
      曽根淳、北川尚之、岩崎靖、吉田眞理、田中章景、祖父江元
    • Organizer
      第54回日本神経病理学会総会学術研究会
    • Place of Presentation
      タワーホール船堀、東京都江戸川区
    • Related Report
      2013 Research-status Report
  • [Presentation] Neuronal intranuclear inclusion diseaseの原因遺伝子探索2013

    • Author(s)
      曽根淳、田中章景、中村亮一、北川尚之、菅野純夫、鈴木穣、森下真一、祖父江元
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京国際フォーラム、東京都千代田区
    • Related Report
      2013 Research-status Report
  • [Presentation] Neuronal intranuclear inclusion diseaseの生前診断2013

    • Author(s)
      曽根淳、北川尚之、岩崎靖、吉田眞理、田中章景、祖父江元
    • Organizer
      第24回日本末梢神経学会学術集会
    • Place of Presentation
      朱鷺メッセ、新潟市
    • Related Report
      2013 Research-status Report
  • [Presentation] Neuronal intranuclear inclusion disease 皮膚生検による診断について2013

    • Author(s)
      曽根淳、北川尚之、岩崎靖、吉田眞理、田中章景、祖父江元
    • Organizer
      第41回 臨床神経病理懇話会,愛知医科大学
    • Place of Presentation
      愛知医科大学、長久手市
    • Related Report
      2013 Research-status Report
  • [Presentation] Neuronal intranuclear inclusion diseaseの病態解析2013

    • Author(s)
      曽根淳、中村亮一、熱田直樹、勝野雅央、小池春樹、渡邊宏久、祖父江元
    • Organizer
      次世代遺伝子解析技術を用いた希少難治性疾患の原因究明及び病態解明に関する研究班 平成25年度 班会議
    • Place of Presentation
      鹿児島大学、鹿児島市
    • Related Report
      2013 Research-status Report
  • [Presentation] Neuronal intranuclear inclusion disease - 皮膚生検による 診断および原因遺伝子の探索

    • Author(s)
      曽根 淳
    • Organizer
      第35回日本神経科学大会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Related Report
      2012 Research-status Report
  • [Presentation] Toward identifying the causative gene of neuronal intranuclear inclusion disease (NIID)

    • Author(s)
      田中 章景
    • Organizer
      第35回日本神経科学大会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Related Report
      2012 Research-status Report
  • [Presentation] Neuronal intranuclear inclusion diseaseの原因遺伝子探索

    • Author(s)
      曽根 淳
    • Organizer
      次世代遺伝子解析技術を用いた希少難治性疾患の 原因究明及び病態解明に関する研究班 平成24年度 班会議
    • Place of Presentation
      鹿児島大学鶴陵会館(鹿児島)
    • Related Report
      2012 Research-status Report
  • [Presentation] 皮膚生検により診断した Neuronal intranuclear inclusion disease の症例

    • Author(s)
      曽根 淳
    • Organizer
      第135回 日本神経学会 東海北陸地方会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Related Report
      2012 Research-status Report

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Published: 2013-05-31   Modified: 2019-07-29  

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