subthalamic nucleus

丘脑底核
  • 文章类型: Journal Article
    帕金森病(PD)早期患者可能存在细微的认知缺陷,而明显的认知缺陷通常是晚期PD的表现。关于脑深部电刺激(DBS)对PD患者认知功效的后果仍存在争议。本研究旨在探讨丘脑底核(STN)-DBS与药物治疗和其他方法相比对PD患者术后痴呆的影响。
    我们搜索了PubMed,Scopus,科克伦图书馆,和2020年10月的WebofScience数据库,关键字:“深部脑刺激,\"\"帕金森病,\"\"痴呆症,\"和\"内存。\"评论,摘要,案例介绍,字母被排除在外。
    总共,在去除重复后筛选491项研究。筛选结果产生了81篇待筛选合格的文章。最后,该综合荟萃分析中包括6项研究。总的来说,800名患者被纳入本荟萃分析,使用马蒂斯痴呆评定量表(MDRS)和从文章中提取的描述性数据来评估全球痴呆。
    我们的结果表明,STN-DBS组比接受最佳药物治疗(BMT)的患者表现出更大的认知能力下降。然而,比较STN-DBS与苍白球内刺激和苍白球切开术,不能证明对患者的整体痴呆有显著的统计学影响.需要更多具有更大样本量的长期研究来验证当前的发现。
    UNASSIGNED: Patients in the early stages of Parkinson disease (PD) may have subtle cognitive deficits, while overt cognitive deficits are usually manifestations of late-stage PD. There is still a debate on the outcome of deep brain stimulation (DBS) on the cognitive function of PD patients. This study aimed to investigate the effect of subthalamic nucleus (STN)-DBS on the dementia of PD patients after surgery compared to medical therapy and other procedures.
    UNASSIGNED: We searched PubMed, Scopus, Cochrane Library, and Web of Science database on October 2020, with keywords: \"Deep brain stimulation,\" \"Parkinson disease,\" \"dementia,\" and \"memory.\" Reviews, abstracts, case presentations, and letters were excluded.
    UNASSIGNED: In total, 491 studies were screened after removing the duplicates. The screening results yielded 81 articles to be screened for eligibility. Finally, 6 studies were included in this meta-analysis for synthesis. Overall, 800 patients were included in this meta-analysis, using the Mattis dementia rating scale (MDRS) and descriptive data from the articles extracted to assess global dementia.
    UNASSIGNED: Our results suggest that the STN-DBS group showed a larger cognitive decline than the patients receiving the best medical treatment (BMT). However, comparing STN-DBS with globus pallidus interna stimulation and pallidotomy could not demonstrate a significant statistical effect on the global dementia of patients. More long-term studies with larger sample sizes are needed to validate current findings.
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  • 文章类型: Journal Article
    晚期帕金森病患者常出现严重的步态和平衡问题,尽管优化了标准疗法,但仍会影响生活质量和持久性。这篇综述的目的是系统地回顾STN-DBS编程技术在缓解晚期PD患者步态障碍方面的功效。搜索是在PubMed中进行的,Embase,和紫丁香数据库,涵盖直到2024年5月发表的研究。该综述确定了36篇文章,探讨了五种不同的STN-DBS技术,旨在解决帕金森氏症患者的步态和姿势不稳定:低频刺激,腹侧STN刺激同时激活黑质,交错,不对称刺激和短脉冲宽度研究。其中,21篇文章被纳入荟萃分析,这揭示了研究之间的显著异质性。值得注意的是,低频STN-DBS在总UPDRS-III评分和FOG-Q方面表现出积极的结果,特别是与多巴胺能治疗联合使用时。对于低频STN刺激发现了最有利的结果。描述性分析表明,非常规刺激方法可能适用于对标准疗法无反应的患者的步态问题。
    Patients with advanced Parkinson\'s disease often suffer from severe gait and balance problems, impacting quality of live and persisting despite optimization of standard therapies. The aim of this review was to systematically review the efficacy of STN-DBS programming techniques in alleviating gait disturbances in patients with advanced PD. Searches were conducted in PubMed, Embase, and Lilacs databases, covering studies published until May 2024. The review identified 36 articles that explored five distinct STN-DBS techniques aimed at addressing gait and postural instability in Parkinson\'s patients: low-frequency stimulation, ventral STN stimulation for simultaneous substantia nigra activation, interleaving, asymmetric stimulation and a short pulse width study. Among these, 21 articles were included in the meta-analysis, which revealed significant heterogeneity among studies. Notably, low-frequency STN-DBS demonstrated positive outcomes in total UPDRS-III score and FOG-Q, especially when combined with dopaminergic therapy. The most favorable results were found for low-frequency STN stimulation. The descriptive analysis suggests that unconventional stimulation approaches may be viable for gait problems in patients who do not respond to standard therapies.
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  • 文章类型: Systematic Review
    这封信讨论了Izzo等人最近的研究。,该研究探讨了在帕金森病的丘脑下核睡眠深部脑刺激(DBS)期间术中微电极记录(MER)。该研究整合了系统评价,将其发现置于神经外科进展的更广泛背景下。突出无框架技术在全身麻醉下的实用性和患者舒适度,它强调了MER在优化电极放置方面的重要性,从而潜在地提高患者的治疗效果。这封信提出了未来的研究方向,包括随机临床试验,进一步评估该方法的临床益处。
    This letter discusses the recent study by Izzo et al., which explored intraoperative microelectrode recording (MER) during asleep deep brain stimulation (DBS) of the subthalamic nucleus for Parkinson\'s disease. The study\'s integration of a systematic review positions its findings within the broader context of neurosurgical advances. Highlighting the practicality and patient comfort of the frameless technique under general anesthesia, it emphasizes the significance of MER in optimizing electrode placement, thereby potentially enhancing patient outcomes. The letter suggests future research directions, including randomized clinical trials, to assess the clinical benefits of this methodology further.
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  • 文章类型: Systematic Review
    目的:评价脑深部刺激丘脑下核在帕金森病治疗中的精神改变。
    方法:使用三个数据库搜索文章:Public/PublisherMEDLINE,虚拟健康图书馆,科克伦图书馆
    结果:分析中包括11项研究。在分析的11项研究中,有两项仅报告了躁狂综合征。其中任何一个都没有单独报告精神病,但在两项研究中发现它与其他精神病学改变有关,不包括躁狂综合征.在一个案例报告中,性欲亢进与抑郁和自我疏离有关。抑郁症是脑深部刺激丘脑底核后最常见的精神疾病,根据审查的五篇文章,包括26名患者。在其中四篇文章中,抑郁症与其他精神疾病有关,比如精神病,自杀意念,性欲亢进,和焦虑。报告了2例轻躁狂综合征。
    结论:观察到更多与核神经解剖学相关的常见精神疾病,可能是由于植入深部脑刺激和调节刺激装置引起的微病变。最常见的疾病包括抑郁症,躁狂症/轻躁狂,精神病,焦虑,自杀意念,和性欲过高。
    OBJECTIVE: To evaluate the psychiatric alterations resulting from deep brain stimulation of the subthalamic nucleus in the management of Parkinson\'s disease.
    METHODS: Articles were searched using three databases: Public/Publisher MEDLINE, Virtual Health Library, and Cochrane Library.
    RESULTS: Eleven studies were included in the analysis. Manic syndrome alone was reported in two of the 11 studies analyzed. Psychosis alone was not reported in any of them, but it was found in association with other psychiatric alterations in two studies, not including manic syndrome. In one case report, hypersexuality was associated with depression and self-alienation. Depressive disorder was the most frequent psychiatric disorder after deep brain stimulation of the subthalamic nucleus, according to five of the reviewed articles, encompassing 26 patients. In four of these articles, depression was associated with other psychiatric disorders, such as psychosis, suicidal ideation, hypersexuality, and anxiety. Hypomanic syndrome was reported in two cases.
    CONCLUSIONS: More common psychiatric disorders related to the neuroanatomy of the nucleus were observed, probably because of the microlesions caused by the implantation of deep brain stimulation and the regulation of the stimulation of the device. The most common disorders include depression, mania/hypomania, psychosis, anxiety, suicidal ideation, and hypersexuality.
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  • 文章类型: Journal Article
    在帕金森病的深部脑刺激(DBS)期间使用微电极记录(MER)是有争议的。此外,在睡眠中DBS麻醉会损害记录单细胞电活动的能力。这项研究的目的是描述我们在睡眠的丘脑下核(STN)DBS期间进行MER评估的手术和麻醉方案,并将我们的发现放在文献系统综述的背景下。在32例全身麻醉患者中植入63个STN电极。在所有情况下都采用了使用O-Arm扫描的无框架技术。全静脉麻醉,用脑电双频指数监测,使用异丙酚和瑞芬太尼的靶控输注给药.对帕金森病患者睡眠和清醒STNDBS中MER的meta分析文献进行了系统综述。在我们的系列中,在所有情况下都可以可靠地记录MER,对电极定位有深远的影响:仅在42.9%的情况下,最终位置位于距计划目标2mm以内。深度修改>2毫米是必要的21例(33.3%),而在15例(23.8%)中,使用了不同的轨道。在1年的随访中,我们观察到LEDD显着减少,UPDRS第三部分对药物进行评分,和UPDRS关于药物的第三部分评分,与基线相比。对文献的系统回顾产生了23篇论文;加上这里报道的案例,共描述了使用MER的1258例睡眠DBS病例。这项技术是安全有效的:金属分析显示类似,如果不是更好,使用MER手术的睡眠与清醒患者的结果。MER是睡着的STNDBS期间有用且可靠的工具,在大多数情况下导致电极位置的微调。神经外科医生之间的合作,神经生理学家和神经麻醉师至关重要,因为镇静水平的轻微修改会对MER可靠性产生深远的影响。
    The use of microelectrode recording (MER) during deep brain stimulation (DBS) for Parkinson Disease is controversial. Furthermore, in asleep DBS anesthesia can impair the ability to record single-cell electric activity.The purpose of this study was to describe our surgical and anesthesiologic protocol for MER assessment during asleep subthalamic nucleus (STN) DBS and to put our findings in the context of a systematic review of the literature. Sixty-three STN electrodes were implanted in 32 patients under general anesthesia. A frameless technique using O-Arm scanning was adopted in all cases. Total intravenous anesthesia, monitored with bispectral index, was administered using a target controlled infusion of both propofol and remifentanil. A systematic review of the literature with metanalysis on MER in asleep vs awake STN DBS for Parkinson Disease was performed. In our series, MER could be reliably recorded in all cases, impacting profoundly on electrode positioning: the final position was located within 2 mm from the planned target only in 42.9% cases. Depth modification > 2 mm was necessary in 21 cases (33.3%), while in 15 cases (23.8%) a different track was used. At 1-year follow-up we observed a significant reduction in LEDD, UPDRS Part III score off-medications, and UPDRS Part III score on medications, as compared to baseline. The systematic review of the literature yielded 23 papers; adding the cases here reported, overall 1258 asleep DBS cases using MER are described. This technique was safe and effective: metanalysis showed similar, if not better, outcome of asleep vs awake patients operated using MER. MER are a useful and reliable tool during asleep STN DBS, leading to a fine tuning of electrode position in the majority of cases. Collaboration between neurosurgeon, neurophysiologist and neuroanesthesiologist is crucial, since slight modifications of sedation level can impact profoundly on MER reliability.
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  • 文章类型: Journal Article
    与他人的互动需要社会调整(即,不断适应不断变化的社会情况)。混合证据表明,帕金森病(PwPD)患者在丘脑底核深部脑刺激(STN-DBS)后的社会调节发生了积极和消极的变化。迄今为止,然而,不存在对这些变化的荟萃分析.因此,本研究旨在回顾STN-DBS对PwPD社会适应影响的证据.为此,在MEDLINE进行了系统的文献检索。使用随机效应模型和具有95%置信区间(CI)的标准化平均差(SMD)进行荟萃分析。MINORS工具用于评估研究的方法学质量。最初的文献检索确定了13124篇文章,其中1,550个全文被评估为合格性。最终纳入了八项研究;对于七篇文章,有足够的数据进行荟萃分析。大多数研究发现手术前的社会适应损害有轻度损害。荟萃分析显示,术后6个月(SMD=0.25;95CI=-0.03,0.53;P=0.08)和12个月以上(SMD=0.26;95CI=-0.03,0.55;P=0.07),社会适应没有显著变化,但有统计学改善趋势。87.5%的研究方法学质量中等,12.5%良好。虽然在大多数研究中报道了手术前社会适应的轻度损害,数据表明STN-DBS可能对该结果产生有益影响.然而,还没有足够的数据来得出确切的结论。作为日常运作的一项关键技能,在PwPD的STN-DBS试验中,应更经常地将社会适应定义为结局,并应在临床常规中加以考虑.
    Interactions with others need social adjustment (i.e., the constant accommodation to changing social situations). Mixed evidence indicates positive as well as negative changes in social adjustment after subthalamic nucleus deep brain stimulation (STN-DBS) in people with Parkinson\'s Disease (PwPD). To date, however, no meta-analysis of these changes exists. Thus, the study aim was to review evidence of the effects of STN-DBS on social adjustment in PwPD. For this purpose, a systematic literature search in MEDLINE was conducted. The meta-analysis was performed using a random effects model and standardized mean differences (SMDs) with 95% confidence intervals (CIs). The MINORS tool was used to assess the methodological quality of the studies. The initial literature search identified 13,124 articles, of which 1,550 full texts were assessed for eligibility. Eight studies were finally included; for seven articles sufficient data for a meta-analysis was available. Most studies found mild impairment in social adjustment impairment pre-surgery. The meta-analysis revealed no significant changes but a statistical trend towards improvement in social adjustment up to six months (SMD = 0.25; 95%CI=-0.03,0.53; P = 0.08) and over 12 months (SMD = 0.26; 95%CI=-0.03,0.55; P = 0.07) post-surgery. Methodological quality was moderate in 87.5% of the studies and good in 12.5%. While mild impairment in social adjustment pre-surgery was reported in most studies, the data indicate that STN-DBS might yield beneficial effects toward this outcome. However, not enough data yet exists to draw firm conclusions. As a crucial skill for everyday functioning, social adjustment should be more often defined as an outcome in STN-DBS trials in PwPD and should be considered in clinical routines.
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  • 文章类型: Journal Article
    背景:丘脑底核深部脑刺激(STN-DBS)是一种治疗晚期帕金森病的可行方法。然而,STN-DBS在局部麻醉(LA)和全身麻醉(GA)下的有效性和安全性仍存在争议.这项荟萃分析旨在使用扩大的样本量对它们进行比较。
    方法:Embase的数据库,系统搜索了CochraneLibrary和Medline在1967年至2023年之间发表的合格队列研究。使用统一帕金森病评定量表(UPDRS)第III部分评分或左旋多巴等效剂量要求评估临床疗效。进行亚组分析以评估并发症(与刺激相关的不良反应,一般神经和外科并发症,和硬件相关的并发症)。
    结果:15项研究,包括13项回顾性队列研究和2项前瞻性队列研究,本荟萃分析共纳入943例患者.结果表明,两组之间在改善UPDRSIII评分或术后左旋多巴等效剂量要求方面没有显着差异。然而,亚组分析显示,与接受带有微电极记录(MER)的LA患者相比,接受GA术中成像的患者UPDRSIII评分改善更高(P=.03).在使用MER的GA组和LA组之间,UPDRSIII评分的改善没有显着差异。此外,两组的并发症发生率无显著差异.
    结论:我们的荟萃分析表明,在GA或LA下进行STN-DBS具有相似的临床结果和并发症。因此,对于不能耐受LA手术的严重症状患者,GA可能是合适的选择。此外,术中成像的GA组的临床结局优于MER的LA组.更令人信服的结论将需要具有大量患者人群的更大的前瞻性队列研究,并延长长期随访以验证。
    BACKGROUND: Subthalamic nucleus deep brain stimulation (STN-DBS) is a viable therapeutic for advanced Parkinson\'s disease. However, the efficacy and safety of STN-DBS under local anesthesia (LA) versus general anesthesia (GA) remain controversial. This meta-analysis aims to compare them using an expanded sample size.
    METHODS: The databases of Embase, Cochrane Library and Medline were systematically searched for eligible cohort studies published between 1967 and 2023. Clinical efficacy was assessed using either Unified Parkinson\'s Disease Rating Scale (UPDRS) section III scores or levodopa equivalent dosage requirements. Subgroup analyses were performed to assess complications (adverse effects related to stimulation, general neurological and surgical complications, and hardware-related complications).
    RESULTS: Fifteen studies, comprising of 13 retrospective cohort studies and 2 prospective cohort studies, involving a total of 943 patients were included in this meta-analysis. The results indicate that there were no significant differences between the 2 groups with regards to improvement in UPDRS III score or postoperative levodopa equivalent dosage requirement. However, subgroup analysis revealed that patients who underwent GA with intraoperative imaging had higher UPDRS III score improvement compared to those who received LA with microelectrode recording (MER) (P = .03). No significant difference was found in the improvement of UPDRS III scores between the GA group and LA group with MER. Additionally, there were no notable differences in the incidence rates of complications between these 2 groups.
    CONCLUSIONS: Our meta-analysis indicates that STN-DBS performed under GA or LA have similar clinical outcomes and complications. Therefore, GA may be a suitable option for patients with severe symptoms who cannot tolerate the procedure under LA. Additionally, the GA group with intraoperative imaging showed better clinical outcomes than the LA group with MER. A more compelling conclusion would require larger prospective cohort studies with a substantial patient population and extended long follow-up to validate.
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  • 文章类型: Journal Article
    苍白球(GPi)和丘脑下核(STN)是两种常见的深部脑刺激(DBS)靶标。这项荟萃分析是比较这两个DBS靶点治疗Meige综合征(MS)的疗效和安全性。
    使用EMBASE进行了系统搜索,MEDLINE,Cochrane图书馆,和ClinicalTrials.gov确定MS的DBS试验。使用ReviewManager5.3进行荟萃分析,并使用随机效应模型分析和计算平均差异(MD)。Pearson的相关系数和荟萃回归分析用于鉴定相关的预测标志物。
    20项试验纳入188名GPi-DBS患者和110名STN-DBS患者。两组均显示Burke-Fahn-Marsden肌张力障碍评分量表-运动(BFMDRS-M)和残疾(BFMDRS-D)评分(GPi-DBS的BFMDRS-M:MD=10.57[7.74-13.41],对于STN-DBS,MD=8.59[4.08-13.11];对于GPi-DBS,BFMDRS-D:MD=5.96[3.15-8.77],STN-DBS的MD=4.71[1.38-8.04];所有P<0.001)从基线到最终随访,虽然在改善率方面没有观察到明显的差异。两组之间刺激相关并发症的发生率也相似(38.54±24.07%vs.43.17±29.12%,P=0.7594)。同时,术前BFMDRS-M评分和病程与末次访视时BFMDRS-M评分的相对变化呈正相关.
    GPi-DBS和STN-DBS都是有效的MS疗法,在疗效或刺激相关问题的频率上没有差异。较高的术前评分和较长的疾病持续时间可能预示着更大的改善。
    UNASSIGNED: Globus pallidus internus (GPi) and subthalamic nucleus (STN) are two common deep brain stimulation (DBS) targets. This meta-analysis was to compared the efficacy and safety of these two DBS targets for the treatment of Meige syndrome (MS).
    UNASSIGNED: A systematic search was performed using EMBASE, MEDLINE, the Cochrane Library, and ClinicalTrials.gov to identify DBS trials for MS. Review Manager 5.3 was used to perform meta-analysis and the mean difference (MD) was analyzed and calculated with a random effect model. Pearson\'s correlation coefficients and meta-regression analyses were utilized to identify relevant predictive markers.
    UNASSIGNED: Twenty trials involving 188 participants with GPi-DBS and 110 individuals with STN-DBS were eligible. Both groups showed improvement of the Burke-Fahn-Marsden Dystonia Rating Scale-Movement (BFMDRS-M) and Disability (BFMDRS-D) scores (BFMDRS-M: MD = 10.57 [7.74-13.41] for GPi-DBS, and MD = 8.59 [4.08-13.11] for STN-DBS; BFMDRS-D: MD = 5.96 [3.15-8.77] for GPi-DBS, and MD = 4.71 [1.38-8.04] for STN-DBS; all P < 0.001) from baseline to the final follow-up, while no notable disparity in improvement rates was observed between them. Stimulation-related complications occurrence was also similar between two groups (38.54 ± 24.07% vs. 43.17 ± 29.12%, P = 0.7594). Simultaneously, preoperative BFMDRS-M score and disease duration were positively connected with the relative changes in BFMDRS-M score at the final visit.
    UNASSIGNED: Both GPi-DBS and STN-DBS are effective MS therapies, with no differences in efficacy or the frequency of stimulation-related problems. Higher preoperative scores and longer disease duration probably predict greater improvement.
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  • 文章类型: Journal Article
    丘脑底核(STN)和苍白球(GPi)是两个主要结构,主要是通过深部脑刺激(DBS)治疗晚期帕金森病(PD)。结果不令人满意的病例的子集可能受益于针对另一个结构的救援DBS手术。虽然这些患者的特征没有得到很好的描述,这种现象也没有得到很好的评价。
    这项单中心回顾性研究包括PD患者,在回顾性分析初始双侧GPiDBS结果不满意后接受了STNDBS的抢救。对当前文献进行了简短回顾,以报告抢救DBS手术的临床结果。
    确定了8名患者,其中6人被纳入本研究。在初始GPiDBS后19.8个月进行救援STNDBS。在救援STNDBS8.8个月后,与最初的GPiDBS相比,患者的运动症状在非药物治疗方面显著改善29.2%.非运动症状和健康相关生活质量也显著改善。
    我们的研究结果表明,抢救STNDBS可以改善初始GPiDBS失败的患者的非药物运动和非运动症状以及生活质量。对当前文献的简短回顾表明,从GPi到STN的目标转换主要是由于不良的初始结果,并且通过目标替代进行,而从STN到GPI的转换主要是由于利益的逐渐减少,长期轴性症状,运动障碍,和肌张力障碍,并通过目标添加进行。
    UNASSIGNED: Subthalamic nucleus (STN) and globus pallidus interna (GPi) are two main structures primarily targeted by deep brain stimulation (DBS) to treat advanced Parkinson\'s disease (PD). A subset of cases with unsatisfactory outcomes may benefit from rescue DBS surgery targeting another structure, while these patients\' characteristics have not been well described and this phenomenon has not been well reviewed.
    UNASSIGNED: This monocentric retrospective study included patients with PD, who underwent rescue STN DBS following an unsatisfactory outcome of the initial bilateral GPi DBS in a retrospective manner. A short review of the current literature was conducted to report the clinical outcome of rescue DBS surgeries.
    UNASSIGNED: Eight patients were identified, and six of them were included in this study. The rescue STN DBS was performed 19.8 months after the initial GPi DBS. After 8.8 months from the rescue STN DBS, patients showed a significant off-medication improvement by 29.2% in motor symptoms compared to initial GPi DBS. Non-motor symptoms and the health-related quality of life were also significantly improved.
    UNASSIGNED: Our findings suggest that the rescue STN DBS may improve off-medication motor and non-motor symptoms and quality of life in patients with failure of initial GPi DBS. The short review of the current literature showed that the target switching from GPi to STN was mainly due to poor initial outcomes and was performed by target substitution, whereas the switching from STN to GPi was mainly due to a gradual waning of benefits, long-term axial symptoms, dyskinesia, and dystonia and was performed by target addition.
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  • 文章类型: Case Reports
    进行性肌阵挛性癫痫(PME)的特征是突出的肌阵挛性,全身性强直-阵挛性癫痫发作,很少有焦点,补品,或缺勤癫痫发作。KCNC1突变负责PME的特定临床表型,其已被定义为由于钾通道突变(MEAK)引起的肌阵挛性癫痫和共济失调。我们介绍了一名44岁的男性患者,其遗传证实为MEAK,该患者因其药理学难治性肌阵统和耐药性癫痫(DRE)而接受了丘脑底核/黑质(STN/SNr)深部脑刺激(DBS)。从4-5岁开始,病人一直患有故意震颤,后来肌阵挛性抽搐,涉及上肢的共济失调和行走困难恶化。首次双侧强直阵挛性癫痫发作(BTCS)发生在22岁。患者同意分期双侧植入放置在STN/SNr区域的DBS电极。随访时间超过24个月。通过统一肌阵鸣量表(UMRS)评估的肌阵挛性抽搐减少了近70%,并且完全废除了BTCS。患者的共济失调和构音障碍没有改善。基因检测的早期诊断可能会显着帮助为PME患者提供咨询,并能够采取针对STN/SNr的手术方法。
    Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). We present a case of a 44 years-old male patient with genetically proven MEAK who underwent subthalamic nucleus/substantia nigra (STN/SNr) deep brain stimulation (DBS) for his pharmacological-refractory myoclonus and drug-resistant epilepsy (DRE). Since the age of 4-5 years, the patient had been suffering from intention tremor, and later the myoclonic jerks, ataxia involving the upper limbs and walking difficulties worsened. The first bilateral tonic-clonic seizure (BTCS) occurred at the age of 22. The patient agreed to staged bilateral implantation of DBS electrodes placed in the STN/SNr region. The follow-up lasts more than 24 months. The myoclonic jerks assessed by Unified Myoclonus Rating Scale (UMRS) were reduced by nearly 70 % and BTCS was completely abolished. The patient\'s ataxia and dysarthria did not improve. Early diagnosis with genetic testing may significantly help in counseling patients with PME and enables to undertake the surgical approach targeting the STN/SNr.
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