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PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism

  • N. Shimizu
  • S. Asakawa
  • S. Minoshima
  • T. Kitada
  • N. Hattori
  • H. Matsumine
  • M. Yokochi
  • Y. Yamamura
  • Y. Mizuno
Conference paper

Summary

Parkinson’s disease is a common neurodegenerative disease with complex clinical features. Recently, we idenfied a novel gene named Parkin to be responsible for the pathogenesis of autosomal recessive juvenile parkinsonism (AR-JP). Various mutations were found in AR-JP patients of Japanese and other ethnic origins, providing a definitive evidence for the Parkin to be a causative gene for AR-JP. The predicted structure of Parkin protein and its mutation provide important clues for studying the functional role of the Parkin protein in leading to selective degeneration of nigral neurons in the brains of AR-JP patients.

Keywords

Lewy Body Nigral Neuron Parkin Gene Juvenile Parkinsonism Autosomal Recessive Juvenile Parkin 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Wien 2000

Authors and Affiliations

  • N. Shimizu
    • 1
  • S. Asakawa
    • 1
  • S. Minoshima
    • 1
  • T. Kitada
    • 1
    • 2
  • N. Hattori
    • 2
  • H. Matsumine
    • 2
  • M. Yokochi
    • 3
  • Y. Yamamura
    • 4
  • Y. Mizuno
    • 2
  1. 1.Department of Molecular BiologyKeio University School of MedicineShinjuku, TokyoJapan
  2. 2.Department of NeurologyJuntendo University School of MedicineJapan
  3. 3.Department of NeurologyTokyo Metropolitan Ebara HospitalTokyoJapan
  4. 4.Department of Health ScienceHiroshima University School of MedicineHiroshimaJapan

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