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An analysis of molecular mechanism underlying spastin-induced spastic paraplegia and a strategy for the development of targeted therapies for the disease

Research Project

Project/Area Number 18590954
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionJichi Medical University

Principal Investigator

TAKIYAMA Yoshihisa  Jichi Medical University, School of Medicine, Lecturer (00245052)

Co-Investigator(Kenkyū-buntansha) SAKOE Kumi  University of Yamanashi, Dept. Haematology, Assistant Professor (10398505)
Project Period (FY) 2006 – 2007
Project Status Completed (Fiscal Year 2007)
Budget Amount *help
¥3,880,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥480,000)
Fiscal Year 2007: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2006: ¥1,800,000 (Direct Cost: ¥1,800,000)
KeywordsHereditary Spastic Paraplegia / Spastin / anti-spastin antibody / siRNA / Vinblastine / SPG4 / SPG7 / Motor protein
Research Abstract

The most common form of autosomal dominant hereditary spastic paraplegias (HSPs) is caused by mutations in the SPG4/SPAST gene, encoding spastin, a member of the AAA family of ATPases. Although spastin are suggested to be involved in microtubule dynamics, we have no due of the mechanism by which spastin mutations may lead to degeneration of corticospinal axons. Therefore, we investigated the function of spastin and the molecular mechanism underlying neurodegeneration due to spastin mutations. In addition, we attempted to find treatment agents for SPG4.
(1) Subcellular localization of endogenous spastin :
We investigated the subcellular localization of endogenous spastin in HeLa and NT2 cells using a spastin-specific antibody. In Hela cells, Spastin is predominantly localized in the nucleus during the interphase, with enrichment toward the centrosome and the spindle in the metaphase. In the telophase, spastin is concentrated in the nucleus and midzone region, with intense staining in the … More midbody. The results indicate that spastin plays an important role in cell division with microtubule severing process. In NT2 cells, spastin is enriched in the growth cone and in the branching regions. siRNA knock-down of spastin expression showed abnormal elongation and swelling of neurite, suggesting that spawn is essential far axon outgrouth.
(2) Screening of possible treatment agents for SPG4
We established a screening system (siRNA knock-down of spastin expression in NT2 and SHSY5Y cells) of possible treatment agents for SPG4. Then screening of possible treatment agents for SPG4 was performed using the system. Although vinblastin rescued the abnormal expansion of neurite, it also induced neuronal cell death.
(3) Gene expression profiling on sacsin
We performed gene-profiling experiments to identify genes that are expressed at low levels together with siRNA knock-down of spastin expression. We found some candidate genes that could be associated with spastin. Among them, a gene was associated with the elongation of neurite and stability of microtubules, and was co-localized with spastin at the top of the neurite. To elucidate the net-work system associated with spastin will shed light on the establishment of treatment for SPG4. Less

Report

(3 results)
  • 2007 Annual Research Report   Final Research Report Summary
  • 2006 Annual Research Report
  • Research Products

    (92 results)

All 2008 2007 2006 Other

All Journal Article (43 results) (of which Peer Reviewed: 17 results) Presentation (30 results) Book (19 results)

  • [Journal Article] Novel SACS mutation in a Belgian family with sacsin-related ataxia2008

    • Author(s)
      Ouyang Y
    • Journal Title

      J Neurol Sci 264

      Pages: 73-76

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies2008

    • Author(s)
      Kirito K
    • Journal Title

      Hematology 93

      Pages: 155-156

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Pathogenic expansions of the SCA6 locus are associated with a common CACNAlA haplotype across the globe:founder effect or predisposing chromosome2008

    • Author(s)
      Craig K
    • Journal Title

      Eur J Hum Gellet (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] A novel genomic disorder:a deletion of the SACS gene leading to spastic ataxia of Chairlevoix-Saguenay2008

    • Author(s)
      Breckpot J
    • Journal Title

      Eur Hum Genet (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Novel SACS mutation in a Belgian family with sacsin-related ataxia2008

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

      J Neurol Sci 264

      Pages: 73-76

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies2008

    • Author(s)
      Kirito, K., et. al.
    • Journal Title

      Hematology 93

      Pages: 155-156

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe : founder effect or predisposing chromosome2008

    • Author(s)
      Craig, K., et. al.
    • Journal Title

      Eur J Hum Genet (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] A novel genomic disorder : a deletion of the SACS gene leading to spastic ataxia of Chairlevoix-Saguenay2008

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

      Eur J Hum Genet (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Machado-Joseph disease/Spinocerebellar ataxia type 32008

    • Author(s)
      Takiyama, Y
    • Journal Title

      Advances in spinocerebellar degeneration and spastic paraplegia. Research Signpost, India(In : Y. Takiyama, et. al. eds.) (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Sacsinopathies(In : Y. Takiyama, et. al. eds.)Advances in spinocerebellar degeneration and spastic paraplegia2008

    • Author(s)
      Takiyama, Y
    • Journal Title

      Research Signpost, India (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Spinocerebellar ataxia type 6(SCA6)2008

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

      Advances in spinocerebellar degeneration and spastic paraplegia. Research Signpost, India(In : Y. Takiyama, et. al. eds.) (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Spastic paraplegia type 4(SPG4)2008

    • Author(s)
      Sakoe, K., et. al.
    • Journal Title

      Advances in spinocerebellar degeneration and spastic paraplegia. Research Signpost, India(In : Y. Takiyama, et. al. eds.) (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Heat shock proteins and neurodegenerative diseases : New Research2008

    • Author(s)
      Sakoe, K., Takiyama, Y
    • Journal Title

      Heat-Shock Proteins : Internal Research. Nova Science Publishers, NY, USA(In : E. Morel and C. Vincent, eds.) (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Novel SACS mutation in a Belgian family with sacsin-related ataxia.2008

    • Author(s)
      Ouyang Y
    • Journal Title

      J Neurol Sci 264

      Pages: 73-76

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel RUNXI mutation in familial platelet disorder with propensity to develop myeloid malignancies.2008

    • Author(s)
      Kirito K
    • Journal Title

      Hematology 93

      Pages: 155-156

    • Related Report
      2007 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)
      Craing K
    • Journal Title

      Eur J Hum Genet (in press)

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel genomic disorder:a deletion of the SACS gene leading to spastic ataxia of Chairlevoix-Saguenay.2008

    • Author(s)
      Breokpot J
    • Journal Title

      Eur J Hum Genet

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Sacsinopathies:sacsin related ataxia2007

    • Author(s)
      Tahyama Y
    • Journal Title

      Cerebellum 6

      Pages: 353-359

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] An unusual case of a spasticity-lacking phenotype with a novel SACS mutation2007

    • Author(s)
      Shimazaki H
    • Journal Title

      J Neurol Sci 255

      Pages: 87-89

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Sacsinopathies : sacsin-related ataxia2007

    • Author(s)
      Takiyama, Y
    • Journal Title

      Cerebellum 6

      Pages: 353-359

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] An unusual case of a spasticity-lacking phenotype with a novel SACS mutation2007

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

      J Neurol Sci 255

      Pages: 87-89

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] 16q-linked autosomal dominant cerebellar ataxia in Japan2007

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

      Research Advances in Neurology 4. Global Research Network, India(In : R.M. Mohan, ed.)

      Pages: 1-7

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Sacsinopathies:sacsin related ataxia.2007

    • Author(s)
      Takiyama Y
    • Journal Title

      Cerebellum 6

      Pages: 353-359

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.2007

    • Author(s)
      Shimazaki H
    • Journal Title

      J Neurol Sci 255

      Pages: 87-89

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] an unusual case of a spasticity-lacking phenotype with a novel SACS mutation.2007

    • Author(s)
      Shimazaki H
    • Journal Title

      J Neurol Sci 255

      Pages: 87-89

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Autosomal recessive spastic ataxia of Chairlevoix-Saguenay(ARSACS)2006

    • Author(s)
      Takiyama Y
    • Journal Title

      Neuropathology 26

      Pages: 368-375

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] 脊髄小脳変性症研究の最近の進歩:シャルルヴォア、サグネ型痙性失調症2006

    • Author(s)
      瀧山 嘉久
    • Journal Title

      神経研究の進歩 50

      Pages: 387-395

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Sacsin-related ataxia(ARSACS):Expanding the genotype upstream from the gigantic exon2006

    • Author(s)
      Ouyang Y
    • Journal Title

      Neurology 66

      Pages: 1103-1104

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] 16q-linked autosomal dominant cerebellar ataxia:a clinical and genetic study2006

    • Author(s)
      Ouyang Y
    • Journal Title

      J Neurol Sci 247

      Pages: 180-186

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X2006

    • Author(s)
      Yamamoto N
    • Journal Title

      J Neurol 253

      Pages: 1372-1373

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Early onset insulin-dependent diabetes mellitus as an initial manifestation of aceruloplasminemia2006

    • Author(s)
      Muroi R
    • Journal Title

      Diabetic Medicine 23

      Pages: 1136-1139

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Autosomal recessive spastic ataxia of Chairlevoix-Saguenay(ARSACS)2006

    • Author(s)
      Takiyama, Y
    • Journal Title

      Neuropathology 26

      Pages: 368-375

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Autosomal recessive spastic ataxia of Chairlevoix-Saguenay(ARSACS) : a clinical and genetic study(in Japanese)2006

    • Author(s)
      Takiyama, Y
    • Journal Title

      Advances in Neurological Sciences 50

      Pages: 387-395

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Sacsin related ataxia(ARSACS) : Expanding the Genotype upstream from the gigantic exon2006

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

      Neurology 66

      Pages: 1103-1104

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Sacsin-related ataxia caused by the novel nonsense Mutation Arg4325X2006

    • Author(s)
      Yamamoto, N., et. al.
    • Journal Title

      J Neurol 253

      Pages: 1372-1373

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Early onset insulin-dependent diabetes mellitus as an Initial manifestation of aceruloplasminernia2006

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

      Diabetic Medicine 23

      Pages: 1136-1139

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Sacsin-related ataxia : the SACS gene mutation2006

    • Author(s)
      Takiyama, Y
    • Journal Title

      Research Advances in Neurology 3. Global Research Network, India(In : R.M. Mohan, ed.)

      Pages: 1-6

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Autosomal recessive spastic ataxia of Chairlevoix-Saguenay(ARSACS).2006

    • Author(s)
      Takiyama Y
    • Journal Title

      Neuropathology 26

      Pages: 368-375

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Sacsin related ataxia (ARSACS) : Expanding the genotype upstream from the gigantic exon.2006

    • Author(s)
      Ouyang Y
    • Journal Title

      Neurology 66

      Pages: 1103-1104

    • Related Report
      2006 Annual Research Report
  • [Journal Article] 16q-linked autosomal dominant cerebellar ataxia : a clinical and genetic study.2006

    • Author(s)
      Ouyang Y
    • Journal Title

      J Neurol Sci 247

      Pages: 180-186

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.2006

    • Author(s)
      Yamamoto N
    • Journal Title

      J Neurol 253

      Pages: 1372-1373

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Early onset insulin-dependent diabetes mellitus as an initial manifestation of aceruloplasminemia.2006

    • Author(s)
      Muroi R
    • Journal Title

      Diabetic Medicine 23

      Pages: 1136-1139

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Sacsinopathies : sacsin-related ataxia.

    • Author(s)
      Takiyama Y
    • Journal Title

      Cerebellum (in press)

    • Related Report
      2006 Annual Research Report
  • [Presentation] 本邦および欧米のサクシノパチー:臨床、分子遺伝学的検討2008

    • Author(s)
      嶋崎 晴雄
    • Organizer
      自治医科大学21世紀COEプログラム 第5回合同シンポジウム2007
    • Place of Presentation
      下野
    • Year and Date
      2008-02-02
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] ベルギー人ARSACS 2家系における新規遺伝子変異の同定2008

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」斑会議
    • Place of Presentation
      東京
    • Year and Date
      2008-01-11
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] HSPグループ3年間のまとめ2008

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2008-01-11
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] ベルギー人ARSACS 2家系における新規遺伝子変異の同定.2008

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省難病性疾患克服研究事業「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2008-01-11
    • Related Report
      2007 Annual Research Report
  • [Presentation] HSPグループ3年間のまとめ.2008

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省難病性疾患克服研究事業「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2008-01-11
    • Related Report
      2007 Annual Research Report
  • [Presentation] シャルルヴォア、サグネ型痙性失調症(ARSACS)の臨床、分子遺伝学2007

    • Author(s)
      瀧山 嘉久
    • Organizer
      第7回東京SCD研究会
    • Place of Presentation
      東京
    • Year and Date
      2007-07-05
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] シャルルヴォア・サグネ型痙性失調症(ARSACS)の臨床・分子遺伝学.2007

    • Author(s)
      瀧山 嘉久
    • Organizer
      第7回東京SGD研究会
    • Place of Presentation
      東京
    • Year and Date
      2007-07-05
    • Related Report
      2007 Annual Research Report
  • [Presentation] 遺伝性痙性対麻痺(SPG4)の1剖検例2007

    • Author(s)
      亀山 隆
    • Organizer
      第48回日本神経病理学会総会学術研究会
    • Place of Presentation
      東京
    • Year and Date
      2007-05-31
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 遺伝性痙性対麻痺(SPG4)の1剖検例.2007

    • Author(s)
      亀山 隆
    • Organizer
      第48回日本神経病理学会総会学術研究会
    • Place of Presentation
      東京
    • Year and Date
      2007-05-31
    • Related Report
      2007 Annual Research Report
  • [Presentation] Spastin蛋白の機能解析2007

    • Author(s)
      迫江 公己
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2007-05-18
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Annual Research Report 2007 Final Research Report Summary
  • [Presentation] 第16番染色体連鎖型脊髄小脳変性症ホモ接合体家系の臨床および分子遺伝学的研究2007

    • Author(s)
      石川 欽也
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2007-05-18
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] An analysis of molecular mechanism underlying spastin-induced spastic paraplegia(in Japanese)2007

    • Author(s)
      Sakoe, K., et. al.
    • Organizer
      The 48th annual meeting of Japan Neurology Society
    • Place of Presentation
      Nagoya
    • Year and Date
      2007-05-18
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 第16番染色体連鎖型脊髄小脳変性症ホモ接合体家系の臨床および分子遺伝学的研究.2007

    • Author(s)
      石川 欽也
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2007-05-18
    • Related Report
      2007 Annual Research Report
  • [Presentation] 新規遺伝子変異を認めたベルギーのARSACS家系2007

    • Author(s)
      嶋崎 晴雄
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2007-05-16
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 新規遺伝子変異を認めたベルギーのARSACS家系.2007

    • Author(s)
      嶋崎 晴雄
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2007-05-16
    • Related Report
      2007 Annual Research Report
  • [Presentation] 本邦における遺伝性痙性対麻痺の検討-JASPAC一次アンケート調査より2007

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2007-01-12
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 第16番染色体に連鎖する優性遺伝性小脳失調症の臨床、分子遺伝学的検討2006

    • Author(s)
      欧陽 嶷
    • Organizer
      自治医科大学21世紀COEプログラム 第4回合同シンポジウム2005 先端医科学の地域医療への展開
    • Place of Presentation
      下野
    • Year and Date
      2006-11-25
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] McLeod syndrome mimicking muscular dystrophy2006

    • Author(s)
      Kawakami T
    • Organizer
      Third International Neuroacanthocytosis Symposium
    • Place of Presentation
      Kyoto
    • Year and Date
      2006-10-28
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] McLeod syndrome mimicking muscular dystrophy2006

    • Author(s)
      Kawakami, T., et. al.
    • Organizer
      Third International Neuroacanthocytosis Symposium
    • Place of Presentation
      Kyoto, Japan
    • Year and Date
      2006-10-28
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Spastin蛋白の機能解析2006

    • Author(s)
      瀧山 嘉久
    • Organizer
      第47回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2006-05-11
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 本邦ARSACS 6家系9症例の臨床、分子遺伝学的検討2006

    • Author(s)
      嶋崎 晴雄
    • Organizer
      第47回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2006-05-11
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 第16番染色体に連鎖する優性遺伝性失調症の臨床、分子遺伝学的検討2006

    • Author(s)
      欧陽 嶷
    • Organizer
      第47回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2006-05-11
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] An analysis of molecular mechanism underlying spastin-induced spastic paraplegia(in Japanese)2006

    • Author(s)
      Takiyama, Y., et. al.
    • Organizer
      The 47th annual meeting of Japan Neurology Society
    • Place of Presentation
      Tokyo
    • Year and Date
      2006-05-11
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Insight on the mutational process underlying Machado-Joseph disease(MJD/SCA3),through a haplotype study of normal,intermediate and expanded alleles2006

    • Author(s)
      Martins M
    • Organizer
      European Human Genetics Conference 2006
    • Place of Presentation
      Amsterdam,The Netherlands
    • Year and Date
      2006-05-06
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Insight on the mutational process underlying Machado-Joseph disease(MJD/SCA3), through a haplotype study of normal, Intermediated and wxpanded alleles2006

    • Author(s)
      Martins, M., et. al.
    • Organizer
      European Human Genetics Conference 2006
    • Place of Presentation
      Amsterdam, The Netherlands
    • Year and Date
      2006-05-06
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] A proposal of Japan Spastic Paraplegia Research Consortium(JASPAC)2006

    • Author(s)
      Takiyama, Y., et. al.
    • Organizer
      Annual meeting of the Research Commitiee for Ataxic Diseases, the Ministry of Health, Labor and Wlfare, Japan
    • Place of Presentation
      Tokyo
    • Year and Date
      2006-02-14
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Spastin蛋白の機能解析2006

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2006-01-14
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 本邦のChairlevoix-Saguenay型痙性失調症6家系9名における臨床、分子遺伝学的検討2006

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2006-01-14
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 痙性対麻痺全国共同研究の提案-JASPAC(Japan Spastic Paraplegia Research Consortium)2006

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2006-01-14
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] An analysis of molecular mechanism underlying spastin-induced spastic paraplegia(in Japanese)2006

    • Author(s)
      Takiyama, Y., et. al.
    • Organizer
      Annual meeting of the Research Commitiee for Ataxic Diseases, the Ministry of Health, Labor and Wlfare, Japan
    • Place of Presentation
      Tokyo
    • Year and Date
      2006-01-14
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] 遺伝性痙性対麻痺.Annual Review神経20082008

    • Author(s)
      瀧山 嘉久
    • Total Pages
      385
    • Publisher
      中外医学社
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Annual Research Report 2007 Final Research Report Summary
  • [Book] 神経難病-多発性硬化症、脊髄小脳変性症, 運動器リハビリテーション実践マニュアル2008

    • Author(s)
      瀧山 嘉久
    • Total Pages
      335
    • Publisher
      全日本病院出版会
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] Machado-Joseph disease/Spinocerebellar ataxia type 3.Advances in spinocerebellar degeneration and spastic paraplegia2008

    • Author(s)
      Takiyama Y
    • Publisher
      Research Signpost(India)(in press)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] Sacsinopathies.Advances in spinocerebellar degeneration and spastic paraplegia2008

    • Author(s)
      Takiyama Y
    • Publisher
      Research Signpost(India)(in press)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] Spinocerebellar ataxia type 6(SCA6).Advances in spinocerebellar degenerati in and spastic paraplegia2008

    • Author(s)
      Shimazaki H
    • Publisher
      Research Signpost(India)(in press)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] Spastic paraplegia type 4(SPG4).Advances in spinocerebellar degeneration and spastic paraplegia2008

    • Author(s)
      Sakoe K
    • Publisher
      Research Signpost(India)(in press)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] Heat shock proteins and neurodegenetative diseases.Heat-Shock□Proteins:New Research2008

    • Author(s)
      Sakoe K
    • Publisher
      Nova Science Publishers(USA)(in press)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] 神経難病-多発性硬化症・脊髄小脳変性症, 運動器リハビリテーション実践マニュアル2008

    • Author(s)
      瀧山 嘉久
    • Total Pages
      335
    • Publisher
      全日本病院出版会
    • Related Report
      2007 Annual Research Report
  • [Book] Machado-Joseph disease/Spinocerebellar ataxia type 3.Advances inspinocerebellar degeneration and spastic paraplegia.2008

    • Author(s)
      Takiyama Y
    • Publisher
      Research Signpost(India)
    • Related Report
      2007 Annual Research Report
  • [Book] Sacsinopathies.Advances in spinocerebellar degeneration and spastic paraplegia.2008

    • Author(s)
      Takiyama Y
    • Publisher
      Research Signpost(India)
    • Related Report
      2007 Annual Research Report
  • [Book] Spinocerebella ataxia type 6(SCA6).Advances in spinocerebellar degeneration and spastic paraplegia.2008

    • Author(s)
      Shimazaki H
    • Publisher
      Research Signpost(India)
    • Related Report
      2007 Annual Research Report
  • [Book] Spastic paraplegia type 4(SPG4).Advances in spinocerebellar degeneration and spastic paraplegia.2008

    • Author(s)
      Sakoe K
    • Publisher
      Research Signpost(India)
    • Related Report
      2007 Annual Research Report
  • [Book] Heat shock proteins and neurodegenetative diseases.Heat-Shock□ Proteins:International Research2008

    • Author(s)
      Sakoe K
    • Publisher
      Nova Science Publishers(USA)
    • Related Report
      2007 Annual Research Report
  • [Book] Research Advances in Neurology 4:16q-Iinked autosomal dominant cerebellar ataxia in Japan2007

    • Author(s)
      Ouyang Y
    • Total Pages
      7
    • Publisher
      Global Research Network(India)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] Research Advances in Neurology 42007

    • Author(s)
      Ouyan Y
    • Publisher
      16q-linked autosomal dominant cerebellar ataxia in Japan.
    • Related Report
      2006 Annual Research Report
  • [Book] 脊髄小脳変性症のすべて2006

    • Author(s)
      瀧山 嘉久
    • Total Pages
      271
    • Publisher
      日本プランニングセンター
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] Research Advances in Neurology 3:Sacsin-related ataxia:the SACS genemutations2006

    • Author(s)
      Takiyama Y
    • Total Pages
      6
    • Publisher
      Global Research Network(India)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] 脊髄小脳変性症のすべて2006

    • Author(s)
      瀧山嘉久
    • Publisher
      日本プランニングセンター
    • Related Report
      2006 Annual Research Report
  • [Book] Research Advances in Neurology 32006

    • Author(s)
      Takiyama Y
    • Publisher
      Sacsin-related ataxia : the SACS gene mutations.
    • Related Report
      2006 Annual Research Report

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Published: 2006-04-01   Modified: 2016-04-21  

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