Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Department of Neurology, University of Lübeck, Lübeck, Germany.
Mov Disord. 2019 Sep;34(9):1294-1299. doi: 10.1002/mds.27699. Epub 2019 Apr 10.
Individual genetic variation can have a major impact on the clinical manifestation of a movement disorder and its response to treatment. Advances in gene discovery and increasing availability of diagnostic genetic testing have led to the identification of a growing number of patients with well-defined hereditary movement disorders. Establishing a genetic diagnosis may greatly impact patient counseling and shape therapeutic decisions. Further, assignment of a movement disorder to a specific genetic defect holds promise for the development of causal treatment approaches and individualized therapies, especially as the first gene-targeted approaches have recently entered clinical trials. However, important gaps remain, that is, genetic testing results are often inconclusive, gene-specific treatment options are still exceedingly rare, and designing clinical trials to demonstrate disease modification continues to pose a major challenge. © 2019 International Parkinson and Movement Disorder Society.
个体遗传变异可能对运动障碍的临床表现及其对治疗的反应产生重大影响。基因发现的进步和诊断性遗传检测的日益普及，导致越来越多的具有明确遗传性运动障碍的患者得到了明确诊断。确定遗传诊断可能会极大地影响患者咨询和治疗决策。此外，将运动障碍分配给特定的遗传缺陷有望为开发因果治疗方法和个体化治疗方法铺平道路，特别是因为最近已经有了第一批针对特定基因的治疗方法进入临床试验。然而，仍存在重要的空白，即遗传检测结果通常不确定，针对特定基因的治疗选择仍然极为罕见，设计临床试验以证明疾病的改善仍然是一个重大挑战。 © 2019 国际帕金森病和运动障碍协会。
