Subthalamic nucleus stimulation is efficacious in patients with parkinsonism and LRRK2 mutations
Subthalamic nucleus stimulation is efficacious in patients with parkinsonism and LRRK2 mutations
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DOI：
10.1002/mds.21178
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发表时间：
2007-01-01
影响因子：
8.6
通讯作者：
Brice, Alexis
中科院分区：
文献类型：
--
作者：
Schuepbach, Michael;Lohmann, Ebba;Brice, Alexis
刺激丘脑下核（STN）可改善左旋多巴反应性帕金森病（PD）患者的运动体征。富亮氨酸重复激酶-2 （LRRK2）基因突变导致帕金森病。我们评估了69例STN刺激下的患者，发现9例LRRK2杂合突变（8例G2019S， 1例T2031S）。两组PD的发病年龄、神经外科手术前后的临床特征、STN刺激的临床反应相似。两名G2019S LRRK2突变患者在手术后9年和10年仍受益于STN刺激。因此，LRRK2突变的患者是STN刺激的良好候选者。(C) 2006运动障碍。
Stimulation of the subthalamic nucleus (STN) improves motor signs in patients with levodopa-responsive Parkinson's disease (PD). Mutations in the leucine-rich repeat kinase-2 (LRRK2) gene cause Parkinsonism. We assessed 69 patients under STN stimulation and found heterozygous LRRK2 mutations in 9 (G2019S in 8 and T2031S in 1). The age at onset of PD, the clinical characteristics before or after neurosurgery, and the clinical response to STN stimulation were similar in both groups. Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation. (C) 2006 Movement Disorder.