Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
复制标题
DOI：
10.1007/s00415-015-7908-z
复制
发表时间：
2015-12-01
影响因子：
6
通讯作者：
Kuehn, A.
中科院分区：
文献类型：
--
作者：
Krause, P.;Brueggemann, N.;Kuehn, A.
苍白球内肌（GPi）的脑深部电刺激（DBS）是重度肌张力障碍患者的既定治疗方法。然而，预测结果的因素在很大程度上是未知的，并且据报道，与例如，DYT 1患者。在这里，我们报告了属于同一家族的三名男性患者因杂合THAP 1基因突变（DYT 6）而患有早发性全身性或节段性肌张力障碍，其苍白球DBS的临床改善过程长达11年。所有患者均显示出对苍白球DBS的初始有效反应，1年随访时Burke-Fahn-Marsden肌张力障碍运动评分平均改善56.9 +/- A 11.7%，残疾评分平均改善45.5 +/- A 22.4%。苍白球DBS的长期结局在2例患者中有利（分别为39%和67%的运动改善）。我们的研究结果表明，运动改善是可变的，可能取决于疾病的严重程度，疾病持续时间和临床表现。总体而言，我们的观察结果支持苍白球DBS作为DYT 6肌张力障碍患者的重要治疗选择。
Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is an established treatment in patients with severe dystonia. However, factors predicting outcome are largely unknown and motor improvement in DYT6 patients after DBS has been reported to be poorer as compared to, e.g., DYT1 patients. Here, we report the course of clinical improvement for up to 11 years of pallidal DBS in three male patients belonging to the same family with early-onset generalized or segmental dystonia due to a heterozygous THAP1 gene mutation (DYT6). All patients showed an initial effective response to pallidal DBS with a mean of 56.9 +/- A 11.7 % improvement in the Burke-Fahn-Marsden Dystonia motor and 45.5 +/- A 22.4 % in the disability score at 1-year follow-up. The long-term outcome of pallidal DBS was favorable in two patients (39, 67 % motor improvement, respectively). Our findings demonstrate that motor improvement is variable and may depend on disease severity, disease duration, and clinical presentation. Overall, our observation supports pallidal DBS as an important treatment option in patients with DYT6 dystonia.