Background

Huntington’s disease (HD) is a neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral changes. The complex constellation of clinical symptoms still makes the therapeutic management challenging. In the new era of functional neurosurgery, deep brain stimulation (DBS) may represent a promising therapeutic approach in selected HD patients.

Methods

Articles describing the effect of DBS in patients affected by HD were selected from Medline and PubMed by the association of text words with MeSH terms as follows: “Deep brain stimulation,” “DBS,” and “HD,” “Huntington’s disease,” and “Huntington.” Details on repeat expansion, age at operation, target of operation, duration of follow-up, stimulation parameters, adverse events, and outcome measures were collected.

Results

Twenty eligible studies, assessing 42 patients with HD, were identified. The effect of globus pallidus internus (GPi) DBS on Unified Huntington’s Disease Rating Scale (UHDRS) total score revealed in 10 studies an improvement of total score from 5.4 to 34.5%, and in 4 studies, an increase of motor score from 3.8 to 97.8%. Bilateral GPi-DBS was reported to be effective in reducing Chorea subscore in all studies, with a mean percentage reduction from 21.4 to 73.6%.

Conclusions

HD patients with predominant choreic symptoms may be the best candidates for surgery, but the role of other clinical features and of disease progression should be elucidated. For this reason, there is a need for more reliable criteria that may guide the selection of HD patients suitable for DBS. Accordingly, further studies including functional outcomes as primary endpoints are needed.

中文翻译：

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亨廷顿病的深部脑刺激：文献综述

背景

亨廷顿病 (HD) 是一种神经退行性疾病，其特征是不自主运动、认知能力下降和行为改变。复杂的临床症状群仍然使治疗管理具有挑战性。在功能性神经外科的新时代，深部脑刺激 (DBS) 可能代表了选定的 HD 患者的一种有前途的治疗方法。

方法

描述 DBS 对受 HD 影响的患者的影响的文章是从 Medline 和 PubMed 中通过文本词与 MeSH 术语的关联选择的，如下所示：“深脑刺激”、“DBS”和“HD”、“亨廷顿病”和“亨廷顿。” 收集了关于重复扩张、手术年龄、手术目标、随访持续时间、刺激参数、不良事件和结果测量的详细信息。

结果

确定了 20 项符合条件的研究，评估了 42 名 HD 患者。苍白球内部 (GPi) DBS 对统一亨廷顿舞蹈病评定量表 (UHDRS) 总分的影响显示，10 项研究的总分从 5.4% 提高到 34.5%，而在 4 项研究中，运动得分从 3.8 提高到 97.8 %。据报道，双侧 GPi-DBS 可有效降低所有研究中舞蹈症亚评分，平均百分比从 21.4% 降低至 73.6%。

结论

以舞蹈病症状为主的 HD 患者可能是手术的最佳人选，但应阐明其他临床特征和疾病进展的作用。因此，需要更可靠的标准来指导选择适合 DBS 的 HD 患者。因此，需要将功能结果作为主要终点的进一步研究。