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Causative gene detection and its functional analysis for autosomal dominant Sagamihara Parkinsonism

Research Project

Project/Area Number 16590843
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionNational Hospital Orgainzation, Sagamihara National Hospital, Clinical Research center

Principal Investigator

HASEGAWA Kazuko  Sagamihara National Hosopital, Clinical Research Center, 電子顕微鏡室, 室長 (70146372)

Co-Investigator(Kenkyū-buntansha) OBATA Fumiya  Kitasato University, 医療衛星学部, 教授 (60129236)
Project Period (FY) 2004 – 2005
Project Status Completed (Fiscal Year 2005)
Budget Amount *help
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2005: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2004: ¥2,900,000 (Direct Cost: ¥2,900,000)
Keywords家族性パーキンソン病 / PARK8 / LRRK2 / DRDN / I2020T / familial Parkinsonisum
Research Abstract

We detected a missense mutation in the LRRK2 gene in members of the Japanese family with autosomal dominant Parkingson's desease (PD) (Sagamihara family) on whose basis the PARK8 PD locus was originally defined. Thus, LRRK2 was concluded to be the gene responsible for PARK8. The mutation identified was located in the kinase domain and was identical to that reported in one of the PARK8-linked Caucasian families, suggesting that this mutation is essential for the pathogenesis. The unique pathological features of the Sagamihara family, characterized by pure nigral degeneration without Lewy bodies, provided us with a valuable oppotunity to elucidate the protein structure-pathogenesis relationship of the gene product of LRRK2.

Report

(3 results)
  • 2005 Annual Research Report   Final Research Report Summary
  • 2004 Annual Research Report
  • Research Products

    (3 results)

All 2005 Other

All Journal Article (3 results)

  • [Journal Article] An LRRK2 Mutation as a cause for the Parkinsonism in the Original PARK8 Family2005

    • Author(s)
      M Funayama, K Hasegawa, E Ohta, N Kawashima, M Komiyama, H Kowa, S Tsuji, F Obata
    • Journal Title

      Ann Neurol 57

      Pages: 918-921

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] An LRRK2 Mutation as a cause for the Parkinsonism in the Original PARK8 Family2005

    • Author(s)
      M Funayama, K Hasegawa, E Ohta, N Kawashima, M Komiyama, H Kowa, S Tsuji, F Obata
    • Journal Title

      Ann Neurology 57

      Pages: 918-921

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article]

    • Author(s)
      Funayama M, Hasegawa K et al.
    • Journal Title

      Ann Neurology (in press)

    • Related Report
      2004 Annual Research Report

URL: 

Published: 2004-04-01   Modified: 2016-04-21  

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