Abstract
This chapter will take a broad approach to the role of genetic factors in Parkinson’s disease (PD). It is important to distinguish between genetic and inherited factors. Inherited factors relate to those that are passed from generation to generation. Genetic factors relate to constitutive genes that can interact with each other and with the environment. There has been considerable debate as to the extent to which inherited factors contribute to the development of PD since the 1890s, when Gowers reported that up to 15% of secondary familial cases existed in PD.
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Marttila, R.J., Kaprio, J., Koskenvuo, M. and Rinne, U.K. Parkinson’s disease in a nationwide twin cohort. Neurnlng v 38:1217–1219, 1988.
Ward, C.D., Duvoisin, R.C., Ince, S.E., Nutt, J.D., Eldridge, R. and Caine, D.B. Parkinson’s disease in 65 pairs of twins and in a set of quadruplets. Neurology 33:815–824, 1983.
Duvoisin, R.C., Eldridge, R., Williams, A., Nutt, J. and Caine, D. Twin study of Parkinson disease. Neurology 31:77–80, 1981.
Burns, R.S., Chiueh, C.C., Markey, S.P., Ebert, M.H., Jacobowitz, D.M. and Kopin, I.J. A primate model of parkinsonism: selective destruction of dopaminergic neurons in the pars compacta of the substantia nigra by N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Proc Natl Acad Sci USA 80:4546–4550, 1983.
Tanner, C.M., Ottman, R., Goldman, S.M., et al. Parkinson disease in twins: an etiologic study. JAMA 281:341–346, 1999.
Vieregge, P., Hagenah, J., Heberlein, I., Klein, C. and Ludin, H.P. Parkinson’s disease in twins: a follow-up study. Neurology 53:566–572, 1999.
Elbaz, A., Grigoletto, F., Baldereschi, M., et al. Familial aggregation of Parkinson’s disease: a populationbased case-control study in Europe. EUROPARKINSON Study Group. Neurology 52:1876–1882, 1999.
Sveinbjornsdottir, S., Hicks, A.A., Jonsson, T., et al. Familial aggregation of Parkinson’s disease in Iceland. N Engl J Med 343:1765–1770, 2000.
Solano, S.M., Miller, D.W., Augood, S.J., Young, A.B. and Penney, J.B. Expression of alpha-synuclein, parkin, and ubiquitin carboxy-terminal hydrolase L I mRNA in human brain: genes associated with familial Parkinson’s disease. Ann Neurol 47:201–210, 2000.
Polymeropoulos, M.H., Lavedan, C., Leroy, E., et al. Mutation in the alpha-synuclein gene identified in families with Parkinson’s disease. Science 276:2045–2047, 1997.
Athanassiadou, A., Voutsinas, G., Psiouri, L., et al. Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. Am J Hum Genet 65:555–558, 1999.
Kruger, R., Kuhn, W., Muller, T., et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson’s disease. Nat Genet 18:106–108, 1998.
Vaughan, J.R., Farrer, M.J., Wszolek, Z.K., et al. Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson’s disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson’s Disease (GSPD). Hum Mol Genet 7:751–753, 1998.
Scott, W.K., Yamaoka, L.H., Stajich, J.M., et al. The alpha-synuclein gene is not a major risk factor in familial Parkinson disease. Neurogenetics 2:191–192, 1999.
Maroteaux, L., Campanelli, J.T. and Scheller, R.H. Synuclein: a neuron-specific protein localized to the nucleus and presynaptic nerve terminal. J Neurosci 8:2804–2815, 1988.
Spillantini, M.G., Schmidt, M.L., Lee, V.M., Trojanowski, J.Q., Jakes, R. and Goedert, M. Alpha-synuclein in L ewv bodies Nature 388:839–840, 1997.
Perrin, R.J., Woods, W.S., Clayton, D.F. and George, J.M. Interaction of human alpha-Synuclein and Parkinson’s disease variants with phospholipids. Structural analysis using site-directed mutagenesis. J Biol Chem 275:34393–34398. 2000.
Finley, D. and Chau, V. Ubiquitination. Annu Rev Cell Biol 7:25–69, 1991.
Leroy, E., Boyer, R., Auburger, G., et al. The ubiquitin pathway in Parkinson’s disease. Nature 395:451–452, 1998.
Hattori, N., Matsumine, H., Asakawa, S., et al. Point mutations (Thr240Arg and Gln311 Stop) [correction of Thr240Arg and A1a311 Stop] in the Parkin gene. Biochem Biophys Res Commun 249:754–758, 1998.
Kitada, T., Asakawa, S., Hattori, N., et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605–608, 1998.
Leroy, E., Anastasopoulos, D., Konitsiotis, S., Lavedan, C. and Polymeropoulos, M.H. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson’s disease. Hum Genet 103:424–427, 1998.
Nisipeanu, P., Inzelberg, R., Blumen, S.C., et al. Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene. Neurology 53:1602–1604, 1999.
Shimura, H., Hattori, N., Kubo, S., et al. Familial Parkinson disease gene product, parkin, is a ubiquitinprotein ligase. Nat Genet 25:302–305, 2000.
Lucking, C.B., Durr, A., Bonifati, V., et al. Association between early-onset Parkinson’s disease and mutations in the parkin gene. French Parkinson’s Disease Genetics Study Group. N Engl J Med 342:1560–1567, 2000.
Klein, C., Pramstaller, P.P., Kis, B., et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 48:65–71, 2000.
Tanner, C.M., Hubble, J.P. and Chan, P. Epidemiology and genetics of Parkinson’s disease. In: Movement disorders: neurologic principles and practice, edited by Watts, R.L. and Koller, W.C. NY: McGraw-Hill, 1997, p. 137–152.
Xie, T., Ho, S.L. and Ramsden, D. Characterization and implications of estrogenic down-regulation of human catechol-O-methyltransferase gene transcription. Mol Pharmacol 56:31–38, 1999.
Tsang, K.L., Jiang, H., Ramsden, D.B. and Ho, S.L. The use of estrogen in the treatment of Parkinson’s disease. Parkinsonism & Related Disorders (In Press) 2001.
Tsang, K.L., Ho, S.L. and Lo, S.K. Estrogen improves motor disability in parkinsonian postmenopausal women with motor fluctuations. Neurology 54:2292–2298, 2000.
Dietmaier, W., Wallinger, S., Bocker, T., Kullmann, F., Fishel, R. and Ruschoff, J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 57:4749–4756, 1997.
Boland, C.R., Thibodeau, S.N., Hamilton, S.R., et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248–5257, 1998.
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© 2002 Kluwer Academic / Plenum Publishers, New York
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Tsang, KL., Feng, ZH., Jiang, H., Ho, SL., Ramsden, D.B. (2002). Genetic Risk Factors in Parkinson’s Disease. In: Mizuno, Y., Fisher, A., Hanin, I. (eds) Mapping the Progress of Alzheimer’s and Parkinson’s Disease. Advances in Behavioral Biology, vol 51. Springer, Boston, MA. https://doi.org/10.1007/978-0-306-47593-1_42
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DOI: https://doi.org/10.1007/978-0-306-47593-1_42
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