Douglas Michael R, Lewthwaite Alistair J, Nicholl David J
University of Birmingham Medical School, Vincent Drive, Edgbaston, Birmingham, B15 2TT, UK.
Expert Rev Neurother. 2007 Jun;7(6):657-66. doi: 10.1586/14737175.7.6.657.
The past 10 years has seen a shift in our etiological concepts of Parkinson's disease, moving from a nearly exclusively environmentally mediated disease towards a complex disorder with important genetic contributors. The identification of responsible mutations in certain genes, particularly alpha-synuclein, Parkin, PINK1, DJ-1 and LRRK2, has increased our understanding of the clinical and pathological changes underlying Parkinson's disease, with implications for patient diagnosis, management and future research. This review will outline the specific genetic advances, discuss their implications for clinical practice and hint at future directions for research into this common and disabling disease.
在过去的十年里，我们对帕金森病的病因概念发生了转变，从几乎完全由环境介导的疾病转向了一种具有重要遗传因素的复杂疾病。某些基因（特别是α-突触核蛋白、帕金蛋白、PINK1、DJ-1和富亮氨酸重复激酶2）中致病突变的发现，增进了我们对帕金森病潜在临床和病理变化的理解，对患者的诊断、管理及未来研究都有影响。本综述将概述具体的遗传学进展，讨论其对临床实践的意义，并对这种常见且致残性疾病的未来研究方向予以提示。
