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Novel Genes of Autosomal Recessive Spinocerebellar Degeneration

Research Project

Project/Area Number 19390241
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionHiroshima University

Principal Investigator

KAWAKAMI Hideshi  Hiroshima University, 原爆放射線医科学研究所, 教授 (70253060)

Co-Investigator(Kenkyū-buntansha) MARUYAMA Hirofumi  広島大学, 原爆放射線医科学研究所, 准教授 (90304443)
MORINO Hiroyuki  広島大学, 原爆放射線医科学研究所, 助教 (10397953)
Project Period (FY) 2007 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥18,330,000 (Direct Cost: ¥14,100,000、Indirect Cost: ¥4,230,000)
Fiscal Year 2009: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2008: ¥5,850,000 (Direct Cost: ¥4,500,000、Indirect Cost: ¥1,350,000)
Fiscal Year 2007: ¥9,360,000 (Direct Cost: ¥7,200,000、Indirect Cost: ¥2,160,000)
Keywords臨床神経分子遺伝学 / 脊髄小脳変性症 / 劣性遺伝 / SNP / 脳神経疾患 / ゲノム解析 / 遺伝学
Research Abstract

In spinocerebeller ataxia (SCA),many causative genes for the dominant forms of SCA have been identified. On the other hand, the most gene for the recessive form of SCA still are unknown. To identify the causative genes for the recessive form of SCA, we analyzed the patient DNA by high density SNP chips, detected the homozygote regions, and sequenced the exons of the coding genes. We didn't detect the significant of the differences of the exons of the genes. We may need the research for the introns of the genes.

Report

(4 results)
  • 2009 Annual Research Report   Final Research Report ( PDF )
  • 2008 Annual Research Report
  • 2007 Annual Research Report
  • Research Products

    (27 results)

All 2009 2008 2007

All Journal Article (13 results) (of which Peer Reviewed: 13 results) Presentation (14 results)

  • [Journal Article] Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.2009

    • Author(s)
      Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T
    • Journal Title

      Nat Genet 41(12)

      Pages: 1303-1307

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.2009

    • Author(s)
      Kamada M, Maruyama H, Tanaka E, Morino H, Wate R, Ito H, Kusaka H, Kawano Y, Miki T, Nodera H, Izumi Y, Kaji R, Kawakami H
    • Journal Title

      J Neurol Sci 284(1-2)

      Pages: 69-71

    • NAID

      120001898369

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.2009

    • Author(s)
      Zabetian CP, Yamamoto M, Lopez AN, Ujike H, Mata IF, Izumi Y, Kaji R, Maruyama H, Morino H, Oda M, Hutter CM, Edwards KL, Schellenberg GD, Tsuang DW, Yearout D, Larson EB, Kawakami H.
    • Journal Title

      Mov Disord 24(7)

      Pages: 1034-1041

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Aortic pulse wave velocity predicts cardiovascular mortality in middle-aged and elderly Japanese men.2009

    • Author(s)
      Inoue N, Maeda R, Kawakami H, Shokawa T, Yamamoto H, Ito C, Sasaki H.
    • Journal Title

      Circ J. 73(3)

      Pages: 549-553

    • NAID

      110007126720

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.2009

    • Author(s)
      Satake W
    • Journal Title

      Nat Genet. 41

      Pages: 1303-1307

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.2009

    • Author(s)
      Kamada M
    • Journal Title

      J Neurol Sci. 284

      Pages: 69-71

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.2009

    • Author(s)
      Zabetian CP
    • Journal Title

      Mov Disord. 24

      Pages: 1034-1041

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Aortic pulse wave velocity predicts cardiovascular mortality in middle-aged and elderly Japanese men.2009

    • Author(s)
      Inoue N
    • Journal Title

      Circulation J 73

      Pages: 549-553

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?2008

    • Author(s)
      Craig K, Takiyama Y, Soong BW, Jardim LB, Saraiva-Pereira ML, Lythgow K, Morino H, Maruyama H, Kawakami H, Chinnery PF
    • Journal Title

      Eur J Hum Genet 16(7)

      Pages: 841-847

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] The CNTN4 c. 4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.2008

    • Author(s)
      Tanaka E, Maruyama H, Morino H, Nakajima E, Kawakami H
    • Journal Title

      J Neurol Sci 266(1-2)

      Pages: 180-181

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Study Group on Ataxic Diseases (Shoji Tsuji, Osamu Onodera, Ichiro Kanazawa, Hidehiro Mizusawa, Takamichi Hattori, Gen Sobue, Mitsunori Yamada, Yoshiyuki Kuroiwa, Akira Kakizuka, Atsushi Takeda, Kazuko Hasegawa, Tatsuhiko Yuasa, Takemasa Kanda, Kunihiro YStudy Group on Ataxic Diseases (Shoji Tsuji, Osamu Onodera, Ichiro Kanazawa, Hidehiro Mizusawa, Takamichi Hattori, Gen Sobue, Mitsunori Yamada, Yoshiyuki Kuroiwa, Akira Kakizuka, Atsushi Takeda, Kazuko Hasegawa, Tatsu2008

    • Author(s)
      Tsuji S, Onodera O, Goto J, Nishizawa M
    • Journal Title

      Cerebellum 7(2)

      Pages: 189-197

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Pathogenic expansions of the SCA6 locus are associated with a common CACNAlA haplotype across the globe : founder effect or predisposing chromosome?2008

    • Author(s)
      K Craig
    • Journal Title

      Eur J Hum Genet 16

      Pages: 841-847

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spino cerebellar ataxia.2008

    • Author(s)
      Eiji Tanaka
    • Journal Title

      Journal of Neurological Science 266

      Pages: 180-181

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Presentation] 当院における認知症診療の現況.2009

    • Author(s)
      織田雅也, 伊藤聖, 日地正典, 中村毅, 宮地隆史, 丸山博文, 和泉唯信
    • Organizer
      第28回日本認知症学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2009-11-21
    • Related Report
      2009 Final Research Report
  • [Presentation] 地理情報システムを用いた広島原爆被爆者位置情報の高精度化2009

    • Author(s)
      佐藤裕哉, 星正治, 大瀧慈, 丸山博文, HM Cullings, 川上秀史
    • Organizer
      日本放射線影響学会第52回大会
    • Place of Presentation
      広島
    • Year and Date
      2009-11-11
    • Related Report
      2009 Final Research Report
  • [Presentation] I113T変異を持つ家族性ALSの剖検例2009

    • Author(s)
      中村聖香, 伊東秀文, 朝山真哉, 中村正孝, 西井誠, 藤田賢吾, 和手麗香, 金子鋭, 中野智, 丸山博文, 川上秀史, 日下博文
    • Organizer
      第37回臨床神経病理懇話会
    • Place of Presentation
      姫路
    • Year and Date
      2009-11-07
    • Related Report
      2009 Final Research Report
  • [Presentation] 脊髄小脳変性症の病型別頻度の検討2009

    • Author(s)
      森野豊之, 田中英司, 丸山博文, 和泉唯信, 川上秀史
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Related Report
      2009 Annual Research Report 2009 Final Research Report
  • [Presentation] 日本人筋萎縮性側索硬化症におけるTARDBP変異のスクリーニング2009

    • Author(s)
      丸山博文, 鎌田正紀, 森野豊之, 田中英司, 和手麗香, 伊東秀文, 日下博文, 川上秀史
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Related Report
      2009 Final Research Report
  • [Presentation] SOD1遺伝子変異(G93S)をともなった家族性筋萎縮性側索硬化症の1家系2009

    • Author(s)
      宮崎由道, 宮城愛, 島谷佳光, 浅沼光太郎, 野寺裕之, 和泉唯信, 梶龍兒, 川西健登, 丸山博文, 川上秀史
    • Organizer
      第86回日本神経学会中国・四国地方会
    • Place of Presentation
      広島
    • Year and Date
      2009-06-27
    • Related Report
      2009 Final Research Report
  • [Presentation] 家族性ALSおよび孤発性ALSにおけるTARDBP遺伝子変異の頻度検索2009

    • Author(s)
      鎌田正紀, 丸山博文, 田中英司, 森野豊之, 伊東秀文, 日下博文, 野寺裕之, 和泉唯信, 梶龍兒, 川上秀史
    • Organizer
      第50回日本神経学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2009-05-21
    • Related Report
      2009 Final Research Report
  • [Presentation] 一過性の構音障害、右顔面神経麻痺で発症したX-linked Charcot-Marie-Tooth disease (CMTX)2008

    • Author(s)
      藤井裕樹、村上善生、野田公一、川上秀史、丸山博文、森野豊之
    • Organizer
      第84回日本神経学会中国四国地方会
    • Place of Presentation
      米子
    • Year and Date
      2008-07-05
    • Related Report
      2009 Final Research Report
  • [Presentation] 遺伝性脊髄小脳失調症15型(SCA15)のスクリーニング2008

    • Author(s)
      田中英司、森野豊之、丸山博文、川上秀史
    • Organizer
      第49回日本神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2008-05-16
    • Related Report
      2009 Final Research Report 2008 Annual Research Report
  • [Presentation] 脊髄小脳変性症1836例の病型分類と地域別病型頻度の検討2007

    • Author(s)
      森野豊之, 丸山博文, 和泉唯信, 織田雅也, 寺澤英夫, 田路浩正, 川上秀史
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2007-05-17
    • Related Report
      2009 Final Research Report
  • [Presentation] 遺伝性脊髄小脳失調症16型(SCA16)のスクリーニング2007

    • Author(s)
      田中英司, 森野豊之, 丸山博文, 川上秀史
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2007-05-17
    • Related Report
      2009 Final Research Report
  • [Presentation] Comprehensive Analysis of the LRRK2 Gene in Japanese Patients with Parkinson's Disease2007

    • Author(s)
      CP. Zabetian, H Ujike, H Morino, M Yamamoto, M Oda, H Maruyama, Y Izumi, R Kaji, IF. Mata, SK. Ayres, GD. Schellenberg, EB. Larson, H Kawakami
    • Organizer
      59th American Academy of Neurology Annual Meeting
    • Place of Presentation
      Boston, USA
    • Year and Date
      2007-05-05
    • Related Report
      2009 Final Research Report
  • [Presentation] 脊髄小脳変性症1836例の病型分類と地域別病型頻度の検討2007

    • Author(s)
      森野豊之, 丸山博文, 和泉唯信, 織田雅也, 寺澤英夫, 田路浩正, 川上秀史
    • Organizer
      第17回日本疫学会学術総会
    • Place of Presentation
      広島
    • Year and Date
      2007-01-27
    • Related Report
      2009 Final Research Report
  • [Presentation] 第16番染色体長腕連鎖型常染色体優性遺伝性脊髄小脳変性症(16q-ADCA)の地域別頻度と臨床症状の検討2007

    • Author(s)
      森野豊之, 丸山博文, 和泉唯信, 織田雅也, 寺澤英夫, 田路浩正, 川上秀史
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Related Report
      2009 Final Research Report

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Published: 2007-04-01   Modified: 2016-04-21  

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