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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.

DOI:10.3233/JPD-012121
PMID:23938256
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。

相似文献

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Sustained response to deep brain stimulation in LRRK2 parkinsonism with the Y1699C mutation.LRRK2 帕金森病伴 Y1699C 突变患者的脑深部电刺激持续反应。
J Parkinsons Dis. 2012;2(4):269-71. doi: 10.3233/JPD-012121.
2
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引用本文的文献

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Surgicogenomics: The Role of Genetics in Deep Brain Stimulation in Parkinson's Disease Patients.手术基因组学:遗传学在帕金森病患者深部脑刺激中的作用
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2
Motor and Non-motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi-Scale Meta-Analysis.帕金森病遗传全景中的深部脑刺激的运动和非运动结果:多尺度荟萃分析。
Mov Disord Clin Pract. 2024 May;11(5):465-477. doi: 10.1002/mdc3.13994. Epub 2024 Feb 6.
3
Long-Term Outcomes of Genetic Parkinson's Disease.
遗传性帕金森病的长期预后
J Mov Disord. 2020 May;13(2):81-96. doi: 10.14802/jmd.19080. Epub 2020 May 29.
4
Deep brain stimulation and genetic variability in Parkinson's disease: a review of the literature.帕金森病中的脑深部电刺激与基因变异性:文献综述
NPJ Parkinsons Dis. 2019 Sep 6;5:18. doi: 10.1038/s41531-019-0091-7. eCollection 2019.
5
Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review.帕金森病相关基因突变患者的深部脑刺激:一项系统评价。
Mov Disord Clin Pract. 2019 Jun 19;6(5):359-368. doi: 10.1002/mdc3.12795. eCollection 2019 Jun.
6
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.基因性帕金森病的深部脑刺激治疗:系统综述。
J Neurol. 2020 Apr;267(4):883-897. doi: 10.1007/s00415-019-09181-8. Epub 2019 Jan 18.