Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.
Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.
复制标题
深部脑刺激治疗 DYT1 和 DYT11 双突变肌阵挛肌张力障碍综合征。
DOI：
10.1038/srep41042
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发表时间：
2017-01-19
影响因子：
4.6
通讯作者：
Zhang YQ
中科院分区：
文献类型：
--
作者：
Wang JW;Li JP;Wang YP;Zhang XH;Zhang YQ
肌阵挛-肌张力障碍综合征（MDS）是一种罕见的常染色体显性遗传性疾病，其特征是肌阵挛性抽搐和肌张力障碍。越来越多的证据表明，深部脑刺激 (DBS) 可能是治疗 MDS 的一种有前景的方法。然而，尚无研究报告DBS对DYT1和DYT11双突变MDS的影响。 2011年至2015年期间，我中心收治了两名具有双突变的难治性MDS患者。 DYT1和DYT11的基因检测是通过聚合酶链式反应扩增和基因特定外显子的直接测序来进行的。对于第一位患者，首先进行了双侧丘脑腹侧中间核 (Vim) DBS。由于症状初步改善后肌张力障碍恶化，随后在初次手术后 43 个月时进行了双侧苍白球内肌 (GPi) DBS，逆转了恶化情况并恢复了运动功能。对于第二名患者，在双侧 Vim DBS 治疗后 6 个月的随访中，运动症状和生活质量得到了初步改善。因此，DBS 可能是 MDS 的有效治疗选择，即使对于具有双突变的患者也是如此。此外，当初始 Vim DBS 无法控制 MDS 症状时，GPi DBS 可以用作补充治疗。
Myoclonus-dystonia syndrome (MDS) is a rare autosomal dominant inherited disorder characterized by the presentation of both myoclonic jerks and dystonia. Evidence is emerging that deep brain stimulation (DBS) may be a promising treatment for MDS. However, there are no studies reporting the effects of DBS on MDS with double mutations in DYT1 and DYT11. Two refractory MDS patients with double mutations were treated between 2011 and 2015 in our center. Genetic testing for DYT1 and DYT11 was performed through polymerase chain reaction amplification and direct sequencing of the specific exons of genes. For the first patient, initial bilateral ventral intermediate thalamus nucleus (Vim) DBS was performed. Because of worsening dystonia after initial improvement in symptoms, subsequent bilateral globus pallidus internus (GPi) DBS was offered at 43 months after initial surgery, which reversed the deterioration and restored the motor function. For the second patient, initial improvement in motor symptoms and quality of life was sustained at the follow-up 6 months after bilateral Vim DBS treatment. Thus, DBS may be an effective therapeutic option for MDS, even in patients with double mutations. Moreover, GPi DBS may be used as a supplementary treatment when initial Vim DBS fails to control MDS symptoms.