Jinnah H A, Alterman Ron, Klein Christine, Krauss Joachim K, Moro Elena, Vidailhet Marie, Raike Robert
Departments of Neurology, Human Genetics and Pediatrics, Emory University, Suite 6300 Woodruff Memorial Building, 101 Woodruff Circle, Atlanta, GA, 30322, USA.
Division of Neurosurgery, Beth Israel Deaconess Medical Center, Boston, MA, USA.
J Neural Transm (Vienna). 2017 Apr;124(4):417-430. doi: 10.1007/s00702-016-1656-9. Epub 2017 Feb 3.
The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal movements and postures. There are many different clinical manifestations and underlying causes. Deep brain stimulation (DBS) provides an effect treatment, but outcomes can vary considerably among the different subtypes of dystonia. Several variables are thought to contribute to this variation including age of onset and duration of dystonia, specific characteristics of the dystonic movements, location of stimulation and stimulator settings, and others. The potential contributions of genetic factors have received little attention. In this review, we summarize evidence that some of the variation in DBS outcomes for dystonia is due to genetic factors. The evidence suggests that more methodical genetic testing may provide useful information in the assessment of potential surgical candidates, and in advancing our understanding of the biological mechanisms that influence DBS outcomes.
肌张力障碍是一组以肌肉过度收缩导致异常运动和姿势为特征的疾病。有许多不同的临床表现和潜在病因。深部脑刺激(DBS)提供了一种有效的治疗方法,但在肌张力障碍的不同亚型中,治疗结果可能有很大差异。有几个变量被认为导致了这种差异,包括发病年龄和肌张力障碍持续时间、肌张力障碍运动的具体特征、刺激部位和刺激器设置等。遗传因素的潜在作用很少受到关注。在本综述中,我们总结了证据,表明肌张力障碍DBS治疗结果的一些差异是由遗传因素导致的。证据表明,更系统的基因检测可能在评估潜在手术候选者以及增进我们对影响DBS治疗结果的生物学机制的理解方面提供有用信息。