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2011 Fiscal Year Final Research Report

Identification of a novel gene responsible for spinocerebellar ataxia and therapy for ataxia

Research Project

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Project/Area Number 21591084
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

IKEDA Yoshio  岡山大学, 岡山大学病院, 講師 (00282400)

Co-Investigator(Kenkyū-buntansha) ABE Koji  岡山大学, 大学院・医歯薬学総合研究科, 教授 (20212540)
Project Period (FY) 2009 – 2011
Keywords脊髄小脳変性症 / ポジショナルクローニング / spinocerebellar ataxia / SCD / Asidan / SCA36 / NOP56 / GGCCTGリピート
Research Abstract

To reveal the molecular pathomechanism and identify a novel gene responsible for spinocerebellar ataxia, positional cloning of SCA families with unknown etiology was performed. A novel genetic defect causing characteristic clinical features with ataxia complicated by motor neuron involvement had been discovered from this study as a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene. The specific molecular effect of mutated transcripts might be related to RNA gain-of-function mechanism.

  • Research Products

    (21 results)

All 2011 2010 2009 Other

All Journal Article (15 results) (of which Peer Reviewed: 15 results) Presentation (5 results) Remarks (1 results)

  • [Journal Article] Clinicoepidemiological analysis of genetic testing in 1, 000 cases of hereditary neurological disorders2011

    • Author(s)
      Kametaka S, Ikeda Y, Abe K
    • Journal Title

      Rinsho Shinkeigaku

      Volume: 51 Pages: 471-7

    • Peer Reviewed
  • [Journal Article] Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement2011

    • Author(s)
      Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A
    • Journal Title

      Am J Hum Genet

      Volume: 89 Pages: 121-30

    • Peer Reviewed
  • [Journal Article] Differential clinical features in a pair of monozygotic twins with dentatorubropallidoluysian atrophy2011

    • Author(s)
      Sato K, Yunoki T, Morimoto N, Nagotani S, Deguchi K, Takehisa Y, Ikeda Y, Matsuura T, Abe K, Yamamoto Y
    • Journal Title

      Eur J Neurol

      Volume: 18 Pages: e100-1

    • Peer Reviewed
  • [Journal Article] Correlation of cerebral spinal fluid pH and HCO3(-) with disease progression in ALS2011

    • Author(s)
      Morimoto N, Deguchi K, Sato K, Yunoki T, Deguchi S, Ohta Y, Kurata T, Takao Y, Ikeda Y, Matsuura T, Abe K
    • Journal Title

      J Neurol Sci

      Volume: 307 Pages: 74-8

    • Peer Reviewed
  • [Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias2011

    • Author(s)
      Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K
    • Journal Title

      Neurol Res

      Volume: 33 Pages: 427-32

    • Peer Reviewed
  • [Journal Article] Atorvastatin and pitavastatin protect cerebellar Purkinje cells in AD model mice and preserve the cytokines MCP-1 and TNF-α2011

    • Author(s)
      Kozuki M, Kurata T, Miyazaki K, Morimoto N, Ohta Y, Ikeda Y, Abe K
    • Journal Title

      Brain Res

      Volume: 1388 Pages: 32-8

    • Peer Reviewed
  • [Journal Article] Disruption of neurovascular unit prior to motor neuron degeneration in amyotrophic lateral sclerosis2011

    • Author(s)
      Miyazaki K, Ohta Y, Nagai M, Morimoto N, Kurata T, Takehisa Y, Ikeda Y, Matsuura T, Abe K
    • Journal Title

      J Neurosci Res

      Volume: 89 Pages: 718-28

    • Peer Reviewed
  • [Journal Article] Atorvastatin and pitavastatin improve cognitive function and reduce senile plaque and phosphorylated tau in aged APP mice2011

    • Author(s)
      Kurata T, Miyazaki K, Kozuki M, Violeta-Lukic-Panin, Morimoto N, Ohta Y, Nagai M, Ikeda Y, Matsuura T, Abe K
    • Journal Title

      Brain Res

      Volume: 1371 Pages: 161-70

    • Peer Reviewed
  • [Journal Article] Prevalence of autosomal dominant cerebellar ataxia in Ao mori, the northernmost prefecture of Honshu, Japan2010

    • Author(s)
      Yamamoto-Watanabe Y, Watanabe M, Hikichi M, Ikeda Y, Jackson M, Wakasaya Y, Matsubara E, Kawarabayashi T, Kannari K, Shoji M
    • Journal Title

      Intern Med

      Volume: 49 Pages: 2409-2414

    • Peer Reviewed
  • [Journal Article] A Japanese ALS6 family with mutation R521C in the FUS/TLS gene : a clinical, pathological and genetic report2010

    • Author(s)
      Yamamoto-Watanabe Y, Watanabe M, Okamoto K, Fujita Y, Jackson M, Ikeda M, Nakazato Y, Ikeda Y, Matsubara E, Kawarabayashi T, Shoji M
    • Journal Title

      J Neurol Sci

      Volume: 296 Pages: 59-63

    • Peer Reviewed
  • [Journal Article] Induction of parkinsonism-related proteins in the spinal motor neurons of transgenic mouse carrying a mutant SOD1 gene2010

    • Author(s)
      Morimoto N, Nagai M, Miyazaki K, Ohta Y, Kurata T, Takehisa Y, Ikeda Y, Matsuura T, Asanuma M, Abe K
    • Journal Title

      J Neurosci Res

      Volume: 88 Pages: 1804-1811

    • Peer Reviewed
  • [Journal Article] Familial amyloid polyneuropathy(Finnish type) presenting multiple cranial nerve deficits with carpal tunnel syndrome and orthostatic hypotension2010

    • Author(s)
      Makioka K, Ikeda M, Ikeda Y, Nakasone A, Osawa T, Sasaki A, Otani T, Arai M, Okamoto K
    • Journal Title

      Neurol Res

      Volume: 32 Pages: 472-475

    • Peer Reviewed
  • [Journal Article] Spinal anterior horn has the capacity to self-regenerate in amyotrophic lateral sclerosis model mice2009

    • Author(s)
      Miyazaki K, Nagai M, Morimoto N, Kurata T, Takehisa Y, Ikeda Y, Abe K
    • Journal Title

      J Neurosci Res

      Volume: 87 Pages: 3639-3648

    • Peer Reviewed
  • [Journal Article] RNA gain-of-function in spinocerebellar ataxia type 82009

    • Author(s)
      Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP
    • Journal Title

      PLoS Genet

      Volume: 5 Pages: e1000600

    • Peer Reviewed
  • [Journal Article] Changes of Nogo-A and receptor NgR in the lumbar spinal cord of ALS model mice2009

    • Author(s)
      Miyazaki K, Nagai M, Ohta Y, Morimoto N, Kurata T, Murakami T, Takehisa Y, Ikeda Y, Kamiya T, Abe K
    • Journal Title

      Neurol Res

      Volume: 31 Pages: 316-321

    • Peer Reviewed
  • [Presentation] SCA31および他の小脳失調症における聴覚障害の検討2011

    • Author(s)
      池田佳生、倉田智子、山下徹、太田康之、出口章子、出口健太郎、武久康、城洋志彦、松浦徹、阿部康二
    • Organizer
      第52回日本神経学会学術大会
    • Place of Presentation
      名古屋
    • Year and Date
      20110518-20
  • [Presentation] 岡山大学神経内科における遺伝子検査1, 000件の臨床疫学的解析2011

    • Author(s)
      亀高さつき、池田佳生、阿部康二
    • Organizer
      第52回日本神経学会学術大会
    • Place of Presentation
      名古屋
    • Year and Date
      20110518-20
  • [Presentation] 運動失調症の治療開発研究への応用をめざした上肢協調運動障害の数量化測定装置の開発2010

    • Author(s)
      池田佳生、辻徳生、折戸謙介、松浦徹、石井抱、阿部康二
    • Organizer
      第28回日本神経治療学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20100715-16
  • [Presentation] SCDにおける上肢協調運動障害の数量化測定装置の開発2009

    • Author(s)
      池田佳生、宮崎一徳、森本展年、倉田智子、永井真貴子、武久康、辻徳生、折戸謙介、石井抱、阿部康二
    • Organizer
      第50回日本神経学会総会
    • Place of Presentation
      仙台
    • Year and Date
      20090520-22
  • [Presentation] 歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の一卵性双生児例についての検討2009

    • Author(s)
      佐藤恒太、柚木太淳、森本展年、名古谷章子、出口健太郎、永井真貴子、武久康、池田佳生、松浦徹、阿部康二
    • Organizer
      第87回日本神経学会中国・四国地方会
    • Place of Presentation
      高松
    • Year and Date
      2009-12-05
  • [Remarks] 岡山大学神経内科ホームページ

    • URL

      http://www.okayama-u.ac.jp/user/med/shinkeinaika

URL: 

Published: 2013-07-31  

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