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基因数据在晚期帕金森病患者设备辅助治疗选择中的作用:一篇综述。

The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson's Disease: A Mini-Review.

作者信息

Chan Germaine Hiu-Fai

机构信息

Department of Medicine, Queen Elizabeth Hospital, Kowloon, Hong Kong SAR, China.

出版信息

Front Aging Neurosci. 2022 Jun 10;14:895430. doi: 10.3389/fnagi.2022.895430. eCollection 2022.

Abstract

Parkinson's disease (PD) is a common neurodegenerative disease. At present, 5-10% of PD patients are found to have monogenic form of the disease. Each genetic mutation has its own unique clinical features and disease trajectory. It is unclear if the genetic background can affect the outcome of device-aided therapies in these patients. In general, monogenic PD patients have satisfactory motor outcome after receiving invasive therapies. However, their long-term outcome can vary with their genetic mutations. It appears that patients with leucine-rich repeat kinase-2 (LRRK2) and PRKN mutations tended to have good outcome following deep brain stimulation (DBS) surgery. However, those with Glucocerebrosidase (GBA) mutation were found to have poorer cognitive performance, especially after undergoing subthalamic nucleus DBS surgery. In this review, we will provide an overview of the outcomes of device-aided therapies in PD patients with different genetic mutations.

摘要

帕金森病(PD)是一种常见的神经退行性疾病。目前,5%至10%的帕金森病患者被发现患有单基因形式的该疾病。每种基因突变都有其独特的临床特征和疾病发展轨迹。尚不清楚基因背景是否会影响这些患者的器械辅助治疗效果。一般来说,单基因帕金森病患者在接受侵入性治疗后运动结果令人满意。然而,他们的长期结果会因基因突变而有所不同。富含亮氨酸重复激酶2(LRRK2)和PRKN基因突变的患者在接受脑深部电刺激(DBS)手术后似乎往往有良好的结果。然而,发现携带葡萄糖脑苷脂酶(GBA)基因突变的患者认知表现较差,尤其是在接受丘脑底核DBS手术后。在本综述中,我们将概述不同基因突变的帕金森病患者器械辅助治疗的结果。

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