Outcome of bilateral deep brain subthalamic stimulation in patients carrying the R1441G mutation in the LRRK2 dardarin gene
Outcome of bilateral deep brain subthalamic stimulation in patients carrying the R1441G mutation in the LRRK2 dardarin gene
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DOI：
10.1227/01.neu.0000318171.82719.35
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发表时间：
2008-04-01
期刊：
影响因子：
4.8
通讯作者：
Garibi, Jesus
中科院分区：
文献类型：
--
作者：
Gomez-Esteban, Juan C.;Lezcano, Elena;Garibi, Jesus
目的：丘脑深部电刺激为帕金森病患者提供症状缓解。本研究分析了富含亮氨酸重复蛋白激酶-2(LRRK2)(Dardarin)基因RI441G突变的丘脑深部电刺激术后患者的预后。所有五个人都符合外科介入治疗核心评估计划的标准，可以纳入手术计划。采用帕金森病统一评定量表II、帕金森病统一评定量表III和帕金森病问卷39分，以及所用药物的种类和剂量，在治疗前和术后6个月进行评估。结果：4例患者治疗6个月后对L多巴的疗效与治疗前相似。其中一人在手术后四个月中风，不符合评估条件。运动反应、日常生活活动和生活质量的改善有限(分别为18%、22%和33%)，低于对照组(分别为39%、45%和41%)。讨论：R1441G突变携带者在临床上与其他类似手术的特发性帕金森病患者相似。但前者对丘脑深部丘脑刺激的反应较差。这一阴性结果的解释尚不清楚，因为所有患者对L-多巴都保持了良好的反应。还需要更大规模的研究来证实这些发现。
OBJECTIVE: Deep brain subthalamic stimulation provides symptomatic relief to patients with Parkinson's disease. The present study analyzes the postoperative outcome of deep brain subthalamic stimulation in patients carrying the RI441G mutation in the leucine-rich repeat kinase-2 (LRRK2) (dardarin) gene.METHODS: Five of the 48 patients treated in our unit carried a mutation in the LRRK2 (dardarin) gene. All five met the Core Assessment Program for Surgical Interventional Therapies criteria for inclusion in the surgical program. Pre- and postoperative assessment (6 mo) was made using the Unified Parkinson Disease Rating Scale II, Unified Parkinson Disease Rating Scale III, and Parkinson's Disease Questionnaire-39 scores, as well as the type and dosage of drugs used.RESULTS: The response to L-dopa after 6 months was similar to the baseline in all four patients. One suffered a stroke four months after surgery and is not eligible for evaluation. The improvements in motor response, daily life activities, and quality of life were limited (18, 22, and 33%, respectively) and were lower than those of the control group (39, 45, and 41%, respectively).DISCUSSION: Carriers of the R1441G mutation were clinically analogous to the rest of similarly operated patients with idiopathic Parkinson's disease. However, the response to deep brain subthalamic stimulation was worse among the former. The explanation for this negative result is unclear because all patients maintained an excellent response to L-dopa. Further larger studies are needed to confirm these findings.