Sarva Harini, Rodriguez-Porcel Federico, Rivera Francisco, Gonzalez Claudio Daniel, Barkan Samantha, Tripathi Susmit, Gatto Emilia, Ruiz Pedro Garcia
Parkinson's Disease and Movement Disorders Institute, Weill Cornell Medicine, 428 E72nd Street, Suite 400, NY, NY 10021, USA.
Department of Neurology, Medical University of South Carolina, Charleston, SC, USA.
J Neurol Sci. 2024 Apr 15;459:122970. doi: 10.1016/j.jns.2024.122970. Epub 2024 Mar 20.
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions that lead to involuntary postures or repetitive movements. Genetic mutations are being increasingly recognized as a cause of dystonia. Deep brain stimulation (DBS) is one of the limited treatment options available. However, there are varying reports on its efficacy in genetic dystonias. This systematic review of the characteristics of genetic dystonias treated with DBS and their outcomes aims to aid in the evaluation of eligibility for such treatment.
We performed a PUBMED search of all papers related to genetic dystonias and DBS up until April 2022. In addition to performing a systematic review, we also performed a meta-analysis to assess the role of the mutation on DBS response. We included cases that had a confirmed genetic mutation and DBS along with pre-and post-operative BFMDRS.
Ninety-one reports met our inclusion criteria and from them, 235 cases were analyzed. Based on our analysis DYT-TOR1A dystonia had the best evidence for DBS response and Rapid-Onset Dystonia Parkinsonism was among the least responsive to DBS.
While our report supports the role of genetics in DBS selection and response, it is limited by the rarity of the individual genetic conditions, the reliance on case reports and case series, and the limited ability to obtain genetic testing on a large scale in real-time as opposed to retrospectively as in many cases.
肌张力障碍是一种运动障碍，其特征为持续或间歇性肌肉收缩，导致不自主姿势或重复性动作。基因突变越来越被认为是肌张力障碍的一个病因。深部脑刺激（DBS）是现有的有限治疗选择之一。然而，关于其在遗传性肌张力障碍中的疗效，有不同的报道。这项对接受DBS治疗的遗传性肌张力障碍的特征及其结果的系统评价旨在帮助评估这种治疗的适用性。
我们对截至2022年4月的所有与遗传性肌张力障碍和DBS相关的论文进行了PubMed检索。除了进行系统评价外，我们还进行了荟萃分析，以评估突变对DBS反应的作用。我们纳入了有确诊基因突变且接受DBS治疗以及有术前和术后BFMDRS评分的病例。
91篇报告符合我们的纳入标准，从中分析了235例病例。根据我们的分析，DYT-TOR1A肌张力障碍对DBS反应的证据最充分，而快速起病的肌张力障碍帕金森综合征对DBS反应最差。
虽然我们的报告支持遗传学在DBS选择和反应中的作用，但它受到个体遗传疾病罕见性、对病例报告和病例系列的依赖以及与许多情况下回顾性检测不同，难以大规模实时进行基因检测的限制。
