Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia
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DOI：
10.1212/wnl.0000000000001312
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发表时间：
2015-03-03
期刊：
影响因子：
9.9
通讯作者：
Klein, Christine
中科院分区：
文献类型：
--
作者：
Brueggemann, Norbert;Kuehn, Andrea;Klein, Christine
目的：内侧苍白球脑深部电刺激（GPi-DBS）是治疗难治性肌张力障碍的一种既定治疗选择，需要确定预测手术结果的因素以优化患者选择。方法：在这项回顾性多中心研究中，在早期评估了8例DYT 6患者、9例DYT 1患者和38例无已知单基因原因（非DYT）的孤立性肌张力障碍患者的GPi-DBS结果。（1-16个月）和晚期结果：在早期随访中，DYT 1的患者肌张力障碍严重程度的平均降低更大，与DYT 6肌张力障碍患者（-32%; p = 0.046）相比，BFMDRS评分：-60%）和非DYT肌张力障碍（-52%）的患者中存在显著差异。因此，后一组的应答率显著较低（57% vs >90%; p = 0.017）。然而，在后期随访时，GPi-DBS在所有3组中的改善相当（DYT 6，-42%; DYT 1，-44;非DYT，-61%）。8例DYT 6肌张力障碍患者中有3例进行了相同或另一脑靶点的额外DBS，结果各不相同。无论基因型，从肌张力障碍发作到手术的持续时间较短的患者有更好的控制肌张力障碍postoperatives.Conclusions：长期GPi-DBS是有效的DYT 6，DYT 1，和非DYT肌张力障碍的患者。然而，DBS对DYT 6患者的影响似乎不太可预测，这表明可能需要对已知的肌张力障碍基因突变进行DBS前基因检测和咨询。GPi-DBS可能应该考虑在疾病course.Classification证据：这项研究提供了IV级证据，长期GPi-DBS改善DYT 1，DYT 6和非DYT肌张力障碍患者的肌张力障碍。
Objectives:Deep brain stimulation of the internal pallidum (GPi-DBS) is an established therapeutic option in treatment-refractory dystonia, and the identification of factors predicting surgical outcome is needed to optimize patient selection.Methods:In this retrospective multicenter study, GPi-DBS outcome of 8 patients with DYT6, 9 with DYT1, and 38 with isolated dystonia without known monogenic cause (non-DYT) was assessed at early (1-16 months) and late (22-92 months) follow-up using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores.Results:At early follow-up, mean reduction of dystonia severity was greater in patients with DYT1 (BFMDRS score: -60%) and non-DYT dystonia (-52%) than in patients with DYT6 dystonia (-32%; p = 0.046). Accordingly, the rate of responders was considerably lower in the latter group (57% vs >90%; p = 0.017). At late follow-up, however, GPi-DBS resulted in comparable improvement in all 3 groups (DYT6, -42%; DYT1, -44; non-DYT, -61%). Additional DBS of the same or another brain target was performed in 3 of 8 patients with DYT6 dystonia with varying results. Regardless of the genotype, patients with a shorter duration from onset of dystonia to surgery had better control of dystonia postoperatively.Conclusions:Long-term GPi-DBS is effective in patients with DYT6, DYT1, and non-DYT dystonia. However, the effect of DBS appears to be less predictable in patients with DYT6, suggesting that pre-DBS genetic testing and counseling for known dystonia gene mutations may be indicated. GPi-DBS should probably be considered earlier in the disease course.Classification of evidence:This study provides Class IV evidence that long-term GPi-DBS improves dystonia in patients with DYT1, DYT6, and non-DYT dystonia.