Suppr超能文献

LRRK2 帕金森病伴 Y1699C 突变患者的脑深部电刺激持续反应。

Sustained response to deep brain stimulation in LRRK2 parkinsonism with the Y1699C mutation.

机构信息

Department of Neurosciences, Monash Medical Centre, Clayton, VIC, Australia.

出版信息

J Parkinsons Dis. 2012;2(4):269-71. doi: 10.3233/JPD-012121.

Abstract

Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S leucine-rich repeat kinase 2 (LRRK2) parkinsonism, response to surgery in other LRRK2 mutations has not been previously reported. We present an affected individual from the Lincolnshire pedigree (Y1699C), on whom bilateral STN-DBS was performed to control severe motor fluctuations and dyskinesias. He showed a marked improvement in Unified Parkinson's Disease Rating Scale (UPDRS) Part III scores in the "on" and "off" states, sustained for more than three years. Bilateral STN-DBS in LRRK2-parkinsonism with the Y1699C mutation can be as effective as in sporadic PD.

摘要

尽管有报道称,对于 G2019S 亮氨酸重复激酶 2(LRRK2)帕金森病患者,有效的深部脑刺激(STN-DBS)可作用于丘脑底核(STN),但对于其他 LRRK2 突变患者,手术治疗的效果尚未见报道。我们报告了一例来自林肯郡家系(Y1699C)的患者,对其进行双侧 STN-DBS 以控制严重的运动波动和运动障碍。在“开”和“关”状态下,他的统一帕金森病评定量表(UPDRS)第三部分评分均有显著改善,且持续了三年多。伴有 Y1699C 突变的 LRRK2 帕金森病患者接受双侧 STN-DBS 治疗的效果与散发性 PD 患者相似。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验