OBJECTIVE Genetic subtypes of dystonia may respond differentially to deep brain stimulation of the globus pallidus pars interna (GPi DBS). We sought to compare GPi DBS outcomes among the most common monogenic dystonias. METHODS This systematic review and meta-analysis followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses and Meta-analysis of Observational Studies in Epidemiology guidelines. We searched PubMed for studies on genetically confirmed monogenic dystonia treated with GPi DBS documenting pre-surgical and post-surgical assessments using the Burke-Fahn-Marsden Dystonia Rating Scale Motor Score (BFMMS) and Burke-Fahn-Marsden Disability Score (BFMDS). We performed (i) meta-analysis for each gene mutation; (ii) weighted ordinary linear regression analyses to compare BFMMS and BFMDS outcomes between DYT-TOR1A and other monogenic dystonias, adjusting for age and disease duration and (iii) weighted linear regression analysis to estimate the effect of age, sex and disease duration on GPi DBS outcomes. Results were summarised with mean change and 95% CI. RESULTS DYT-TOR1A (68%, 38.4 points; p<0.001), DYT-THAP1 (37% 14.5 points; p<0.001) and NBIA/DYT-PANK2 (27%, 21.4 points; p<0.001) improved in BFMMS; only DYT-TOR1A improved in BFMDS (69%, 9.7 points; p<0.001). Improvement in DYT-TOR1A was significantly greater than in DYT-THAP1 (BFMMS -31%), NBIA/DYT-PANK2 (BFMMS -35%; BFMDS -53%) and CHOR/DYT-ADCY5 (BFMMS -36%; BFMDS -42%). Worse motor outcomes were associated with longer dystonia duration and older age at dystonia onset in DYT-TOR1A, longer dystonia duration in DYT/PARK-TAF1 and younger age at dystonia onset in DYT-SGCE. CONCLUSIONS GPi DBS outcomes vary across monogenic dystonias. These data serve to inform patient selection and prognostic counselling.

中文翻译：

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单基因肌张力障碍中对苍白的深脑刺激的差异反应：系统评价和荟萃分析。

目的肌张力障碍的遗传亚型可能对苍白球的内部深部脑刺激（GPi DBS）有不同的反应。我们试图比较最常见的单基因肌张力障碍之间的GPi DBS结果。方法该系统评价和荟萃分析遵循流行病学指南中观察性研究的系统评价和荟萃分析和荟萃分析的首选报告项目。我们在PubMed中搜索了用GPi DBS治疗的遗传确诊的单基因肌张力障碍的研究，该研究使用Burke-Fahn-Marsden肌张力障碍评定量表运动评分（BFMMS）和Burke-Fahn-Marsden残疾评分（BFMDS）记录了术前和术后评估。我们进行了（i）每个基因突变的荟萃分析；（ii）加权普通线性回归分析以比较DYT-TOR1A与其他单基因肌张力障碍之间的BFMMS和BFMDS结果，调整年龄和疾病持续时间；（iii）加权线性回归分析以估计年龄，性别和疾病持续时间对GPi的影响DBS结果。结果总结为均值变化和95％CI。结果DYT-TOR1A（68％，38.4分; p <0.001），DYT-THAP1（37％14.5分; p <0.001）和NBIA / DYT-PANK2（27％，21.4分; p <0.001）在BFMMS中得到改善; 只有DYT-TOR1A的BFMDS改善（69％，9.7点; p <0.001）。DYT-TOR1A的改善明显大于DYT-THAP1（BFMMS -31％），NBIA / DYT-PANK2（BFMMS -35％; BFMDS -53％）和CHOR / DYT-AD​​CY5（BFMMS -36％; BFMDS- 42％）。在DYT-TOR1A中，运动效果恶化与肌张力障碍持续时间延长和肌张力障碍发作年龄较大有关，DYT / PARK-TAF1中的肌张力障碍持续时间更长，而DYT-SGCE中的肌张力障碍发作年龄更小。结论GPi DBS结果在单基因肌张力障碍中有所不同。这些数据有助于告知患者选择和预后咨询。