Lim Ee-Wei, Tan Eng-King
National Neuroscience Institute, Duke NUS Medical School, Singapore, Singapore.
National Neuroscience Institute, Duke NUS Medical School, Singapore, Singapore.
Int Rev Neurobiol. 2017;133:111-127. doi: 10.1016/bs.irn.2017.05.029. Epub 2017 Jul 14.
Published data on genetic risk factors of nonmotor symptoms (NMS) are relatively lacking since the first mutation responsible for Parkinson's disease (PD) being reported in 1996. This chapter provides a concise summary of genetic links to common individual NMS such as cognitive impairment, depression, psychosis, olfactory dysfunction, pain, and sleep disorders. Although some genetic variants such as apolipoprotein E and glucocerebrosidase demonstrate consistent links with certain NMS, it is difficult to draw definitive conclusions. A concerted effort involving standardized protocol in multiple centers and multiethnic groups will be useful to further investigate the association. With the help of high-throughput genomic techniques, more causative genes and novel genes will be discovered in the future and this will contribute further to the understanding of genetic susceptibility of NMS in PD.
自1996年报道首个与帕金森病（PD）相关的突变以来，关于非运动症状（NMS）遗传风险因素的已发表数据相对较少。本章简要总结了与常见个体非运动症状（如认知障碍、抑郁、精神病、嗅觉功能障碍、疼痛和睡眠障碍）的遗传联系。尽管一些基因变异，如载脂蛋白E和葡萄糖脑苷脂酶，显示出与某些非运动症状有一致的联系，但很难得出明确的结论。多中心和多民族群体采用标准化方案进行协同努力，将有助于进一步研究这种关联。借助高通量基因组技术，未来将发现更多致病基因和新基因，这将进一步有助于理解帕金森病中非运动症状的遗传易感性。
