Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.
Acta Neurol Scand. 2011 Mar;123(3):201-6. doi: 10.1111/j.1600-0404.2010.01387.x.
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.
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).
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.
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.
与因接受深部脑刺激 (DBS) 而选择的 PD 患者相比，分析一般 PD 人群中与帕金森病 (PD) 相关的突变频率，并评估手术结果。
对 630 例连续 PD 患者进行基因筛查，其中 60 例接受 DBS 手术，37 例为丘脑底核 (STN)，21 例为丘脑腹中间核 (VIM)，2 例为苍白球内 (GPi)。
发现 LRRK2、PRKN 和 PINK1 突变：前两者在接受 STN 手术的患者中过度表达，但在接受 VIM 手术的患者中未发现。与无突变的患者相比，有突变的患者的手术临床效果相似。
在连续的 PD 人群中，接受 STN-DBS 治疗的患者 PD 相关突变的发生率更高，他们似乎与无突变的患者一样受益于 DBS。
