Genetics of parkinsonism
DOI: 10.1002/MDS.10173
关键词: Progressive supranuclear palsy 、 Dementia with Lewy bodies 、 Essential tremor 、 Parkin 、 Lewy body 、 Parkinson's disease 、 Population 、 Genetics 、 Parkinsonism 、 Psychology
摘要: Parkinson's disease (PD) was noted to have a familial component as early 1880 (Leroux, 1880). More recently, the discovery of several genetic factors influencing parkinsonism has emphasized importance heredity in PD. The clinical spectrum is wide; it includes not only PD, but also dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), essential tremor, and other disorders. In general population, likely that PD results from combined environmental factors, most which are yet known. causal mutations gene for alpha-synuclein, parkin, linkages chromosomes 2p4, 4p5, three loci on 1q6-8 revolutionized research. This review focuses recent progress Mendelian genetics those diseases prominent feature, considers how these discoveries modify our beliefs regarding etiology pathogenesis
sci-hub.se 参考文章(144)
Fuentes Fd, Lee Lv, Viterbo Gh, Pascasio Fm, Torsion dystonia in Panay, Philippines. Advances in Neurology. ,vol. 14, pp. 137- ,(1976)
M Frydman, B Bonne-Tamir, L L Cavalli-Sforza, K K Kidd, J M Hebert, L A Farrer, A M Bowcock, Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. American Journal of Human Genetics. ,vol. 41, pp. 27- 35 ,(1987)
G Haberhausen, U Peters, A P Monaco, J D Terwilliger, A Köhler, J Chelly, I Schmitt, U Müller, S Rider, Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. American Journal of Human Genetics. ,vol. 57, pp. 644- 650 ,(1995)
Mike Hutton, Corinne L. Lendon, Patrizia Rizzu, Matt Baker, Susanne Froelich, Henry Houlden, Stuart Pickering-Brown, Sumi Chakraverty, Adrian Isaacs, Andrew Grover, Jennifer Hackett, Jennifer Adamson, Sarah Lincoln, Dennis Dickson, Peter Davies, Ronald C. Petersen, Martijn Stevens, Esther de Graaff, Erwin Wauters, Jeltje van Baren, Marcel Hillebrand, Marijke Joosse, Jennifer M. Kwon, Petra Nowotny, Lien Kuei Che, Joanne Norton, John C. Morris, Lee A. Reed, John Trojanowski, Hans Basun, Lars Lannfelt, Michael Neystat, Stanley Fahn, Francis Dark, Tony Tannenberg, Peter R. Dodd, Nick Hayward, John B. J. Kwok, Peter R. Schofield, Athena Andreadis, Julie Snowden, David Craufurd, David Neary, Frank Owen, Ben A. Oostra, John Hardy, Alison Goate, John van Swieten, David Mann, Timothy Lynch, Peter Heutink, Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 Nature. ,vol. 393, pp. 702- 705 ,(1998) , 10.1038/31508
Silvia Rathke-Hartlieb, Philipp J. Kahle, Manuela Neumann, Laurence Ozmen, Sibylle Haid, Masayasu Okochi, Christian Haass, Jörg B. Schulz, Sensitivity to MPTP is not increased in Parkinson's disease-associated mutant α-synuclein transgenic mice Journal of Neurochemistry. ,vol. 77, pp. 1181- 1184 ,(2001) , 10.1046/J.1471-4159.2001.00366.X
Maria Grazia Spillantini, Marie Luise Schmidt, Virginia M.-Y. Lee, John Q. Trojanowski, Ross Jakes, Michel Goedert, α-Synuclein in Lewy bodies Nature. ,vol. 388, pp. 839- 840 ,(1997) , 10.1038/42166
Hideki Shimura, Nobutaka Hattori, Shin-ichiro Kubo, Yoshikuni Mizuno, Shuichi Asakawa, Shinsei Minoshima, Nobuyoshi Shimizu, Kazuhiro Iwai, Tomoki Chiba, Keiji Tanaka, Toshiaki Suzuki, Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase Nature Genetics. ,vol. 25, pp. 302- 305 ,(2000) , 10.1038/77060
Daniel H. Geschwind, Susan Perlman, Stefan M. Pulst, Lucy J. Treiman, Carla P. Figueroa, The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. American Journal of Human Genetics. ,vol. 60, pp. 842- 850 ,(1997)
Cann Hm, Stevanin G, Chneiweiss H, Cancel G, Dürr A, Brice A, Agid Y, Dubourg O, Weissenbach J, The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2. American Journal of Human Genetics. ,vol. 56, pp. 193- 201 ,(1995)
E. Pavlou, T. G. Nygaard, K. C. Wilhelmsen, M. Higgins, T. Lynch, Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22 American Journal of Human Genetics. ,vol. 55, pp. 1159- 1165 ,(1994)