By C. L. Wellington, B. R. Leavitt (auth.), Prof. Y. Mizuno, Prof. D. B. Calne, Dr. R. Horowski, Prof. W. Poewe, Prof. P. Riederer, Prof. M. B. H. Youdim (eds.)
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Additional resources for Advances in Research on Neurodegeneration: Volume 7
Mov Disord 13: 103 (Abstract) Gibb WR, Lees AJ (1989) The significance of the Lewy body in the diagnosis of idiopathic Parkinson's disease. Neuropathol Appl Neurobiol15: 27-44 Golbe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC (1990) A large kindred with autosomal dominant Parkinson's disease. Ann Neurol 27: 276-282 Golbe LI, Di Iorio G , Sanges G , Lazzarini A , LaSala S, Bonavita V, Duvoisin R (1996) Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Ann Neurol 40: 767-775 Hashimoto M, Hsu LJ, Sisk A, Xia Y, Takeda A, Sundsmo M, Masliah E (1998) Human recombinant NACP/aipha-synuclein is aggregated and fibrillated in vitro: relevance for Lewy body disease.
Moreover, complete understanding of the AR-JP will require the generation of disease models by knocking-out or knocking-in the Parkin gene in mouse. These studies and animal models will greatly facilitate the future development of a method of gene therapy for Parkinson's disease and new drugs to protect degeneration of neuronal cells in the substantia nigra of brain. Acknowledgements The authors thank the following people for their contributions to this study: H. Yoshino, T. Kobayashi, M. Wang, A.
Although more analysis on the Parkin protein structure will be necessary, it is apparent that missense mutation was causative to the functional loss of the Parkin protein. Most of the mutations found in lapanese AR-1P patients were deletion types in which large exon deletion accounted for 60% and one-base deletion accounted for 10% of the families (Table 1). No common mutations were found among the affected families and sites of mutations were different along the Parkin gene, indicating the genetic heterogeneity of AR-1P and many founders of Parkin mutations.
Advances in Research on Neurodegeneration: Volume 7 by C. L. Wellington, B. R. Leavitt (auth.), Prof. Y. Mizuno, Prof. D. B. Calne, Dr. R. Horowski, Prof. W. Poewe, Prof. P. Riederer, Prof. M. B. H. Youdim (eds.)