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Investigation of clinical picture and causative gene of NIID

Research Project

Project/Area Number 15K09312
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, 特任助教 (40513750)

Co-Investigator(Kenkyū-buntansha) 祖父江 元  名古屋大学, 医学系研究科, 特任教授 (20148315)
中村 亮一  名古屋大学, 医学部附属病院, 医員 (80723030)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords核内封入体 / 白質脳症 / 皮膚生検 / DWI / 認知症 / 末梢神経障害 / 自律神経障害 / 全ゲノム解析
Outline of Final Research Achievements

We diagnosed NIID cases from skin biopsy findings and head MRI findings, and clinical information and genomic samples were accumulated.
By the end of 2017, over 80 sporadic NIID and 24 cases of familial NIID were accumulated. In addition, at each academic conference in Japan and abroad, we announced the above results and also wrote the review on NIID in domestic journals and enlighten the concept of NIID.
Regarding the search for NIID causative genes, we have pursued whole genome analysis using Pacbio sequencer in addition to linkage analysis, exome and whole genome analysis using the next generation sequencer. We now compares with the sequence data of Pacbio of the normal control sample and examines the data.

Report

(3 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • Research Products

    (26 results)

All 2018 2017 2015

All Journal Article (8 results) (of which Peer Reviewed: 6 results) Presentation (17 results) (of which Int'l Joint Research: 3 results,  Invited: 5 results) Book (1 results)

  • [Journal Article] Adult-Onset Neuronal Intranuclear Inclusion Disease in Two Female Siblings2017

    • Author(s)
      Yoshimoto T, Takamatsu K, Kurashige T, Sone J, Sobue G, Kuriyama M.
    • Journal Title

      BRAIN and NERVE

      Volume: 69 Issue: 3 Pages: 267-274

    • DOI

      10.11477/mf.1416200737

    • NAID

      40021133351

    • ISSN
      1344-8129, 1881-6096
    • Year and Date
      2017-03-01
    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Neuronal Intranuclear Inclusion Disease2017

    • Author(s)
      曽根 淳、祖父江 元
    • Journal Title

      BRAIN and NERVE

      Volume: 69 Issue: 1 Pages: 5-16

    • DOI

      10.11477/mf.1416200628

    • ISSN
      1344-8129, 1881-6096
    • Year and Date
      2017-01-01
    • Related Report
      2017 Annual Research Report
  • [Journal Article] Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma2017

    • Author(s)
      Sone Jun、Nakamura Tomohiko、Koike Haruki、Katsuno Masahisa、Tanaka Fumiaki、Iwasaki Yasushi、Yoshida Mari、Sobue Gen
    • Journal Title

      BRAIN

      Volume: 140 Issue: 8 Pages: e52-e52

    • DOI

      10.1093/brain/awx158

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Case of adult-onset neuronal intranuclear hyaline inclusion disease with negative electroretinogram2017

    • Author(s)
      Yamada W, Takekoshi A, Ishida K, Mochizuki K, Sone J, Sobue G, Hayashi Y, Inuzuka T, Miyake Y
    • Journal Title

      Doc Ophthalmol

      Volume: - Issue: 3 Pages: 221-226

    • DOI

      10.1007/s10633-017-9584-z

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Adult-onset neuronal intranuclear inclusion disease presented transient global amnesia—a case report2017

    • Author(s)
      竹下 潤、小林 宏光、下江 豊、曽根 淳、祖父江 元、栗山 勝
    • Journal Title

      Rinsho Shinkeigaku

      Volume: 57 Issue: 6 Pages: 303-306

    • DOI

      10.5692/clinicalneurol.cn-000994

    • NAID

      130006882271

    • ISSN
      0009-918X, 1882-0654
    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 発症後10年以上経過観察し得た神経核内封入体病の1例2017

    • Author(s)
      徳永 隆司, 西村 裕之, 立花 久大, 曽根 淳, 祖父江 元
    • Journal Title

      神経内科

      Volume: )86巻2号 Pages: 251-254

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Neuronal intranuclear inclusion disease(NIID)の臨床症候と画像所見2017

    • Author(s)
      曽根 淳
    • Journal Title

      Dementia Japan

      Volume: 31 Pages: 18-23

    • Related Report
      2017 Annual Research Report
  • [Journal Article] Neuronal intranuclear inclusion disease manifesting with new-onset epilepsy in the elderly2015

    • Author(s)
      Tomoko Toyota, Zhe Huang, Souhei Nohara, Kazumasa Okada, Shingo Kakeda, Yukunori Korogi, Toshiyuki Nakayama, Jun Sone, Gen Sobue, Hiroaki Adachi
    • Journal Title

      Neurology and Clinical Neuroscience

      Volume: 3 Issue: 6 Pages: 238-240

    • DOI

      10.1111/ncn3.12016

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Presentation] Neuronal intranuclear inclusion disease2018

    • Author(s)
      Jun Sone
    • Organizer
      19th International Congress of Neuropathology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 神経核内封入体病(Neuronal Intranuclear Inclusion Disease : NIID)2018

    • Author(s)
      曽根 淳
    • Organizer
      第59回日本神経学会学術大会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] CLINICAL PRESENTATION AND DIAGNOSIS OF NEURONAL INTRANUCLEAR INCLUSION DISEASE2017

    • Author(s)
      Jun Sone
    • Organizer
      XXIII World Congress of Neurology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 成人発症Neuronal intranuclear inclusion disease (NIID)の診断 flowchart2017

    • Author(s)
      曽根 淳
    • Organizer
      第58回日本神経病理学会総会学術研究会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 長期に画像所見を追跡し得た神経核内封入体病の1例2017

    • Author(s)
      松本 美紀, 野田 智子, 田村 拓也, 中薮 幹也, 伊藤 宏樹, 曽根 淳, 祖父江 元
    • Organizer
      第 148 回日本神経学会東海・北陸地方会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 神経核内封入体病の一家系2017

    • Author(s)
      前田 憲吾, 杉原 芳子, 曽根 淳, 祖父江 元
    • Organizer
      第 108 回日本神経学会近畿地方会
    • Related Report
      2017 Annual Research Report
  • [Presentation] エオジン好性核内封入体病の頭部画像所見2017

    • Author(s)
      高木 伸之介, 岸本 祥之, 毛利 尚裕, 青木 真一郎, 中藪 幹也, 曽根 淳, 祖父江 元
    • Organizer
      第 142 回日本神経学会東海・北陸地方会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 頸部と右上肢の振戦が中心症状だった神経核内封入体病の一例2017

    • Author(s)
      兒玉 憲人, 武井 藍, 牧 美充, 中村 友紀, 橋口 昭大, 野妻 智嗣, 田代 雄一, 曽根 淳, 祖父江 元, 高嶋 博
    • Organizer
      第217 回日本神経学会九州地方会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 一過性の健忘症状を呈した成人発症神経核内封入体病の1例2017

    • Author(s)
      竹下 潤, 小林 宏光, 下江 豊, 曽根 淳, 祖父江 元, 栗山 勝
    • Organizer
      第 107 回日本神経学会近畿地方会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 皮膚生検で確定診断し得た神経核内封入体病の1例2017

    • Author(s)
      岡本光佑, 金藤公人, 井出 渉, 幸原伸夫, 曽根 淳, 祖父江 元
    • Organizer
      第100回日本神経学会北海道地方会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Diagnostic flowchart of adult-onset neuronal intranuclear inclusion disease.2017

    • Author(s)
      Sone J, Inagaki T, Mori K, et al.
    • Organizer
      American Academy of Neurology annual meeting 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 白質脳症の鑑別診断と治療2015

    • Author(s)
      曽根淳
    • Organizer
      第33回日本神経治療学会総会
    • Place of Presentation
      名古屋国際会議場(愛知県名古屋市)
    • Year and Date
      2015-11-26
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] 孤発性 Neuronal intranuclear inclusion disease の臨床症候2015

    • Author(s)
      曽根 淳、 稲垣 智則、勝又 竜、高木 伸之介、森 恵子、荒木 邦彦、岩崎 靖、吉田 眞理、田中 章景、祖父江 元
    • Organizer
      第33回日本神経治療学会総会
    • Place of Presentation
      名古屋国際会議場(愛知県名古屋市)
    • Year and Date
      2015-11-25
    • Related Report
      2015 Research-status Report
  • [Presentation] エオジン好性核内封入体病(Neuronal intranuclear inclusion disease; NIID)の 臨床病理学的多様性2015

    • Author(s)
      曽根淳
    • Organizer
      第68回日本自律神経学会総会
    • Place of Presentation
      ウインクあいち(愛知県名古屋市)
    • Year and Date
      2015-10-29
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] Neuronal Intranuclear Inclusion disease(NIID)2015

    • Author(s)
      曽根淳
    • Organizer
      第34回日本認知症学会学術集会
    • Place of Presentation
      リンクステーションホール青森(青森県青森市)
    • Year and Date
      2015-10-02
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] 臨床症状が異なった家族性神経核内封入体病の57歳男性例と59歳女性例2015

    • Author(s)
      小林 史和、 土屋 舞、福元 恵、山城 亘央、新藤 和雅、曽根 淳、祖父江 元、瀧山 嘉久
    • Organizer
      第213回日本神経学会関東甲信越地方会
    • Place of Presentation
      砂防会館シェーンバッハ・サボー(東京都千代田区)
    • Year and Date
      2015-06-06
    • Related Report
      2015 Research-status Report
  • [Presentation] Clinical features of 32 cases of Neuronal intranuclear inclusion disease diagnosed by skin biopsy2015

    • Author(s)
      曽根淳、北川尚之、菅原恵梨子、違口正明、稲垣智則、荒木邦彦、吉田眞理、岩崎靖、田中章景、祖父江元
    • Organizer
      第56回日本神経病理学会総会学術研究会
    • Place of Presentation
      九州大学(福岡県福岡市)
    • Year and Date
      2015-06-04
    • Related Report
      2015 Research-status Report
  • [Book] Annual Review 神経 20182018

    • Author(s)
      曽根淳
    • Total Pages
      344
    • Publisher
      中外医学社
    • ISBN
      9784498328068
    • Related Report
      2017 Annual Research Report

URL: 

Published: 2015-04-16   Modified: 2019-03-29  

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