Parkinson-related genetics in patients treated with deep brain stimulation
Parkinson-related genetics in patients treated with deep brain stimulation
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DOI：
10.1111/j.1600-0404.2010.01387.x
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发表时间：
2011-03-01
影响因子：
3.5
通讯作者：
Aasly, J. O.
中科院分区：
文献类型：
--
作者：
Johansen, K. K.;Jorgensen, J. V.;Aasly, J. O.
目的：分析帕金森病(PD)相关基因突变在普通帕金森病(PD)人群中的频率，并与选择接受深部脑刺激(DBS)的PD患者进行比较，以评估手术结果。材料和方法：对连续630例PD患者进行基因筛查，其中60例接受DBS手术，37例丘脑底核(STN)，21例丘脑腹中间核(VIM)，2例苍白内球(GPI)。结果发现LRRK2、PRKN和PINK1基因突变：前两种突变在STN手术患者中过度表达，而在VIM手术患者中未发现。结论：在连续的PD人群中，接受STN-DBS治疗的患者中PD相关突变的比例过高，他们似乎与没有突变的患者一样受益于DBS。
Objectives -To analyze the frequency of mutations associated with Parkinson's disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery.Material and methods -A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi).Results -Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN-operated patients, but none being found in VIM-operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without.Conclusions -In a consecutive PD population, patients treated with STN-DBS are overrepresented for PD-related mutations and they seem to benefit from DBS as well as patients without mutations.