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Dentatorubral-pallidoluysian atrophy (DRPLA)

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Book cover Advances in Research on Neurodegeneration

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Summary

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder caused by expansion of CAG repeats coding for a polyglutamine stretch. The prominent anticipation and broad spectrum in the clinical presentations of DRPLA have been demonstrated to be tightly correlated with the instability of CAG repeats in the DRPLA gene. Discovery of the causative gene for DRPLA has made it possible to investigate molecular mechanisms of neurodegeneration caused by expanded polyglutamine stretches. Recent investigations suggest that nuclear transport of mutant proteins containing expanded polyglutamine stretches and intranuclear aggregate formation play important roles in neuronal degeneration. We have recently demonstrated that the aggregate formation and apoptosis are partially suppressed by trans glutaminase inhibitors, raising the possibility that trans glutaminase is involved in the aggregate body. The results may open new prospects for developing therapeutic measures for the polyglutamine diseases.

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Authors and Affiliations

  1. Department of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata, 951, Japan

    Prof. S. Tsuji

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  1. Prof. S. Tsuji
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Editors and Affiliations

  1. Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan

    Y. Mizuno

  2. Neurodegenerative Disorders Centre, Faculty of Medicine, University Hospital, Vancouver, B.C., Canada

    D. B. Calne

  3. Clinical Research, Schering AG, Berlin, Federal Republic of Germany

    R. Horowski

  4. Department of Neurology, University of Innsbruck, Austria

    W. Poewe

  5. Department of Psychiatry, University of Würzburg, Federal Republic of Germany

    P. Riederer

  6. Rappaport Family Institute for Research in the Medical Sciences, Haifa, Israel

    M. B. H. Youdim

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Tsuji, S. (2000). Dentatorubral-pallidoluysian atrophy (DRPLA). In: Mizuno, Y., Calne, D.B., Horowski, R., Poewe, W., Riederer, P., Youdim, M.B.H. (eds) Advances in Research on Neurodegeneration. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6284-2_14

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  • DOI: https://doi.org/10.1007/978-3-7091-6284-2_14

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