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Pathological role of interneurons in pediatric brain disorders

Research Project

Project/Area Number 19591198
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionYamagata University

Principal Investigator

KATOH Mitsuhiro  Yamagata University, 医学部, 講師 (10292434)

Co-Investigator(Kenkyū-buntansha) 小島 俊男  独立行政法人理化学研究所, 比較システム解析研究チーム, チームリーダー (00311340)
中村 和幸  山形大学, 医学部, 医員 (20436215)
Co-Investigator(Renkei-kenkyūsha) KOJIMA Toshio  理化学研究所, 応用システムバイオロジー研究チーム, チームリーダー (00311340)
NAKAMURA Kazuyuki  山形大学, 医学部, 医員 (20436215)
Project Period (FY) 2007 – 2008
Project Status Completed (Fiscal Year 2008)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2008: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2007: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords小児神経学 / 年齢依存性てんかん性脳症 / 大田原症候群 / ウエスト症候群 / 介在ニューロン / ARX 遺伝子 / ポリアラニン病 / ARX遺伝子
Research Abstract

新生児期に難治性のてんかん発作を発症し重度の発達遅滞をきたす大田原症候群の原因遺伝子(ARX)を明らかにした。ARX は大脳介在ニューロン(iN)の発生に関与する。太田原症候群の病態にiN が関与することが証明された。大田原症候群は精神遅滞(2~3残基追加)やウエスト症候群(7残基追加)よりも長いポリアラニン配列の伸長変異(11残基追加)を有し,年齢依存性の発症機序・病態が反復配列の伸長数の違いによることを明らかにした。

Report

(3 results)
  • 2008 Annual Research Report   Final Research Report ( PDF )
  • 2007 Annual Research Report

Research Products

(34 results)

All 2008 2007 Other

All Journal Article (14 results) (of which Peer Reviewed: 13 results) Presentation (10 results) Book (8 results) Remarks (2 results)

  • [Journal Article] Two new cases of pure 1q terminal deletion presenting with brain malformations2008

    • Author(s)
      Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N
    • Journal Title

      Am J Med Genet A 146

      Pages: 1241-1247

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy2008

    • Author(s)
      Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
    • Journal Title

      Nat Genet 40

      Pages: 782-788

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter2008

    • Author(s)
      Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K
    • Journal Title

      Brain Dev 30

      Pages: 349-355

    • NAID

      10025576951

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Two new cases of pure 1q terminal deletion presenting with brain malformations2008

    • Author(s)
      Hiraki Y, et.al.
    • Journal Title

      Am J Med Genet A 146

      Pages: 1241-1247

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy2008

    • Author(s)
      Saitsu H, et.al.
    • Journal Title

      Nat Genet 40

      Pages: 782-788

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter2008

    • Author(s)
      Tohyama J, et.al.
    • Journal Title

      Brain Dev 30

      Pages: 349-355

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus2007

    • Author(s)
      Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB
    • Journal Title

      Neurology 69

      Pages: 427-33

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)2007

    • Author(s)
      Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K.
    • Journal Title

      Am J Hum Genet 81

      Pages: 361-6

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene2007

    • Author(s)
      Honda S, Hayashi S, Kato M, Niida Y, Hayasaka K, Okuyama T, Imoto I, Mizutani S, Inazawa J.
    • Journal Title

      Am J Med Genet Part A 143A

      Pages: 687-693

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor delta 22007

    • Author(s)
      Shimokaze T, Kato M, Yoshimura Y, Takahashi Y, Hayasaka K
    • Journal Title

      Brain Dev 29

      Pages: 224-226

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody2007

    • Author(s)
      Shiihara T, Kato M, Konno A, Takahashi Y, Hayasaka K.
    • Journal Title

      Brain Dev 29

      Pages: 254-256

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] 神経細胞移動障害の分子機構2007

    • Author(s)
      加藤光広
    • Journal Title

      日本小児科学会雑誌 111(11)

      Pages: 1361-1374

    • NAID

      10020094372

    • Related Report
      2008 Final Research Report
  • [Journal Article] A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).2007

    • Author(s)
      Kato M, et. al.
    • Journal Title

      Am J Hum Genet 81

      Pages: 361-366

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.2007

    • Author(s)
      Guerrini R, et. al.
    • Journal Title

      Neurology 69

      Pages: 427-433

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Presentation] Candidate genes (ARX, CDKL5, and SLC25A22) mutation screening for early-onset epileptic encephalopathy2008

    • Author(s)
      Kato M, Nakamura K, Matsumoto N, Osaka H, Hayasaka K
    • Organizer
      The 4th Congress of the Asian Society for Pediatric Research
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Related Report
      2008 Final Research Report
  • [Presentation] Interneuronopathy bridging the gap between brain malformations and functional disorders2008

    • Author(s)
      Kato M
    • Organizer
      The 3rd German-Japanese Symposium Pediatric Neurology
    • Place of Presentation
      Munich, Germany
    • Related Report
      2008 Final Research Report
  • [Presentation] Candidate genes (ARX, CDKL5, and SLC25A22) mutation screening for early-onset epileptic encephalopathy2008

    • Author(s)
      Kato M, et.al.
    • Organizer
      The 4th Congress of the Asian Society for Pediatric Res
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Related Report
      2008 Annual Research Report
  • [Presentation] Interneuronopathy bridging the gap between brain malformations and functional disorders2008

    • Author(s)
      Kato M, et.al.
    • Organizer
      The 3^<rd> Symposium Pediatric Neurology
    • Place of Presentation
      Munich, Germany
    • Related Report
      2008 Annual Research Report
  • [Presentation] Early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) is caused by longer polyalanine expansion mutation of the ARX gene than West syndrome2007

    • Author(s)
      Kato M, Saitoh S, Shiraishi H, Tohyama J, Akasaka N, Hayasaka K
    • Organizer
      The 9th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Cebu
    • Related Report
      2008 Final Research Report
  • [Presentation] A longer polyalanine expansion mutation in the ARX gene causes Ohtahara syndrome2007

    • Author(s)
      Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K
    • Organizer
      The 10th Annual Meeting of the Infantile Seizure Society International Symposium on Biology of Seizure Susceptibility
    • Place of Presentation
      Tokyo
    • Related Report
      2008 Final Research Report
  • [Presentation] Construction of research resource depository in Japan and molecular genetics study on genetic diseases with mental retardation2007

    • Author(s)
      Goto Y-I, Nakagawa E, Takano K, Inazawa J, Okazawa H, Kato M, Kubota T, Kurosawa K, Saitoh S, Nanba E, Matsumoto N, Toda T, Wada T
    • Organizer
      The 13th International Workshop on Fragile X and X-Linked Mental Retardation
    • Place of Presentation
      Venezia Lido, Italy
    • Related Report
      2008 Final Research Report
  • [Presentation] Severe mutations of ARX are associated with an abnormal phenotype in most heterozygous females but not in mothers of affected children2007

    • Author(s)
      Sudi J, Kato M, Mancini G, Toutain A, Das S, Christian S, Dobyns W
    • Organizer
      57th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Related Report
      2008 Final Research Report
  • [Presentation] Early infantile epileptic encephalopathy with suppression-burst(Ohtahara syndrome)is caused by a longer polyalanine expansion mutation in the ARX gene2007

    • Author(s)
      Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Kumada S, Kubota M, Nakamura K, Hayasaka K
    • Organizer
      57th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Related Report
      2008 Final Research Report
  • [Presentation] Early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) is caused by a longer polyalanine expansion mutation in the ARX gene.2007

    • Author(s)
      Kato M, et. al.
    • Organizer
      57th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Related Report
      2007 Annual Research Report
  • [Book] Genetic etiology of age-dependent epileptic encephalopathies in infancy : longer polyalanine expansion in ARX causes earlier onset and more severe phenotype. Biology of Seizure Susceptibility in Developing Brain. Progress in Epileptic Disorders Series2008

    • Author(s)
      Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K
    • Publisher
      Editions John Libbey Eurotext, Montrouge (Paris), France
    • Related Report
      2008 Final Research Report
  • [Book] 脳形成障害.五十嵐隆総編集岡明専門編集「小児科臨床ピクシス(3)小児てんかんの最新医療」2章てんかんの原因2008

    • Author(s)
      加藤光広
    • Publisher
      中山書店 東京
    • Related Report
      2008 Final Research Report
  • [Book] 神経系の発生,中枢神経系奇形, migrationの異常.有馬正高監修「小児神経学」2章2008

    • Author(s)
      加藤光広
    • Publisher
      神経形成異常診断と治療社
    • Related Report
      2008 Final Research Report
  • [Book] Genetic etiology of age-dependent epileptic encephalopathies in infancy : longer polyalanine expansion in ARX causes earlier onset and more severe phenotype. Biology of Seizure Susceptibility in Developing Brain. Progress in Epileptic Disorders Series, Vol.62008

    • Author(s)
      Kato M, et.al.
    • Publisher
      John Libbey Eurotext, Montrouge (Paris), France
    • Related Report
      2008 Annual Research Report
  • [Book] 小児科臨床ピクシス(3)小児てんかんの最新医療2章てんかんの原因脳形成障害分担執筆2008

    • Author(s)
      加藤光広
    • Publisher
      中山書店
    • Related Report
      2008 Annual Research Report
  • [Book] 小児神経学2章. 神経形成異常神経系の発生, 中枢神経系奇形, migrationの異常分担執筆2008

    • Author(s)
      加藤光広
    • Publisher
      診断と治療社
    • Related Report
      2008 Annual Research Report
  • [Book] 脳回形成異常(無脳回, 厚脳回, 多小脳回, 滑脳症).『小児中枢神経疾患の画像診断2008』2007

    • Author(s)
      加藤光広
    • Publisher
      小児内科 東京医学社
    • Related Report
      2008 Final Research Report
  • [Book] 中枢神経系の発生異常の遺伝学的背景. 『小児神経学の進歩』第36集2007

    • Author(s)
      加藤光広
    • Publisher
      診断と治療社
    • Related Report
      2008 Final Research Report
  • [Remarks]

    • URL

      http://www.id.yamagata-u.ac.jp/Ped/pedi.top.htm

    • Related Report
      2008 Final Research Report
  • [Remarks]

    • URL

      http://www.id.yamagata-u.ac.jp/Ped/pedi.top.htm

    • Related Report
      2008 Annual Research Report

URL: 

Published: 2007-03-31   Modified: 2016-04-21  

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