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Analysis of α-synuclein, parkin, tau, and UCH-L1 in a Japanese family fo autosomal dominant Parkinsonism

Research Project

Project/Area Number 10670600
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

HASEGAWA Kazuko  Kitasato University School of Medicine, Assistant Professor, 医学部, 講師 (70146372)

Co-Investigator(Kenkyū-buntansha) KUSUNOKI Junichi  Kitasato University School of Medicine, Research Associate, 医学部, 助手 (70276129)
RHO Masafuchi  Kitasato University School of Medicine, Research Associate, 医学部, 助手 (50210828)
FURUSAWA Eimei  Kitasato University School of Medicine, Research Associate, 医学部, 助手 (20260854)
Project Period (FY) 1998 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 1999: ¥900,000 (Direct Cost: ¥900,000)
Keywordsfamily parkinsonism / etiology / mutation / 家族性パーキンソン病 / 遺伝子 / 常染色体優性遺伝
Research Abstract

Objectives-----To examine whether autosomal dominant parkinsonism of a Japanese family, Sagamihara family, was due to the mutations of α-synuclein, parkin, tau, and UCH-L1, which have been reported as the causal genes for parkinsonism in other families.
Methods-----Point mutations ofα-synuclein exons 3 and 4 were investigated by digesting polymerase-chain reaction (PCR) amplified genomic DNA fragments. Exon deletion of parkin was examined by amplifying exons 3, 4, 5, 6 and 7 by PCR. Point mutations of tau exons 9, 10, 12, and 13 and intron 10, and of UCH-L1 exon 4 were analyzed by direct sequencing of the PCR-amplified DNA fragments of each exon and intron.
Results-----No point mutation was detected inα-synuclein exon 3 or 4. No exon deletion was detected in parkin exon 3, 4, 5, 6 or 7. The sequences of tau exons 9, 10, 12 and 13 as well as intron 10 were normal. The UCH-L1 sequence of exon 4 through the beginning of intron 4 was also normal including a polymorphic nucleotide substitution.
Conclusion-----The parkinsonism of the Sagamihara family seems not to be due to previously identified point mutations of α-synuclein, tau, or UCH-L1, or to exon deletion of parkin.

Report

(3 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • Research Products

    (15 results)

All Other

All Publications (15 results)

  • [Publications] 長谷川一子: "優性遺伝性parkinson症候群"医学のあゆみ. 180. 99-102 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 長谷川一子: "パーキンソン病の臨床徴候 診断基準"カレントテラピー. 17. 1165-1170 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 長谷川一子: "家族性パーキンソニズム"Progress in Medicine. 19. 66-71 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 長谷川一子: "進行性淡蒼球変性症"日本臨床. 27. 74-77 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 長谷川一子: "淡蒼球ルイ体萎縮症"日本臨床. 27. 78-81 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K.HASEGAWA: "Diagnostic cliteria for Parkinson's disease"Current Therapy. 17. 1165-1170

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K.HASEGAWA: "Familial Parkinsonism"Progress in Medicine. 19. 66-71 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K.HASEGAWA: "Progressive pallidal degeneration"Jpn.J.Cli.Med.. 27. 74-77 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K.HASEGAWA: "Pallido Leysial atrophy"Jpn.J.Cli.Med.. 27. 78-81 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K.HASEGAWA: "Autosomal dominant Parkinsonism"Prog. Med.. 180. 99-102 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 長谷川一子: "パーキンソン病の臨床微候・診断基準"カレントテラビー. 17. 1165-1170 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 長谷川一子: "家族性パーキンソニズム"pvcgress in Medicrie. 19. 66-71 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 長谷川一子: "進行性淡蒼球変性症"日本臨床. 27. 74-77 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 長谷川一子: "淡蒼球ルイ体萎統症"日本臨床. 27. 78-81 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 長谷川一子: "優性遺伝性Parkinson症候群" 医学のあゆみ. 180. 99-102 (1998)

    • Related Report
      1998 Annual Research Report

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Published: 1999-04-01   Modified: 2016-04-21  

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