Schüpbach Michael, Lohmann Ebba, Anheim Mathieu, Lesage Suzanne, Czernecki Virginie, Yaici Sadek, Worbe Yulia, Charles Perrine, Welter Marie-Laure, Pollak Pierre, Dürr Alexandra, Agid Yves, Brice Alexis
Centre d'Investigation Clinique, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.
Mov Disord. 2007 Jan;22(1):119-22. doi: 10.1002/mds.21178.
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.
刺激丘脑底核（STN）可改善左旋多巴反应性帕金森病（PD）患者的运动症状。富含亮氨酸重复激酶2（LRRK2）基因突变会导致帕金森综合征。我们评估了69例接受STN刺激的患者，发现其中9例存在LRRK2基因杂合突变（8例为G2019S突变，1例为T2031S突变）。两组患者的帕金森病发病年龄、神经外科手术前后的临床特征以及对STN刺激的临床反应相似。两名携带G2019S LRRK2突变的患者在手术后9年和10年仍从STN刺激中获益。因此，携带LRRK2基因突变的患者是STN刺激的良好候选者。
