相关实验视频
Updated: Jul 18, 2025

Controlling Parkinson's Disease With Adaptive Deep Brain Stimulation
Published on: July 16, 2014
由于一种致病性THAP1变异的泛性 dystonia 显示持续响应 Globus Pallidus 深脑刺激
Shakya Bhattacharjee1, Monty A Silverdale1,2, Michael Bonello3
1Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Salford, UK.
一个THAP1基因的遗传变异在一个年轻女子中引起了 dystonia. 深度大脑刺激为这种运动障碍提供了长期的症状缓解.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 运动障碍 运动障碍
背景情况:
- 腹痛是一种复杂的运动障碍,有各种原因,包括遗传因素.
- 早期发作的 dystonia 往往呈现焦点症状,如作家的,并可以进展到普遍的 dystonia.
- dystonia 的治疗选择包括药物,肉毒素注射和深度大脑刺激.
研究的目的:
- 报告与新型THAP1变种相关的宫性 dystonia 的病例.
- 为了评估深度大脑刺激 (DBS) 的长期疗效,在患有遗传确认的 dystonia.
主要方法:
- 进行了全基因组测序,以确定 dystonia 的遗传原因.
- 患者接受了双边后脑中球内部 (GPi) 深度大脑刺激 (DBS) 植入.
- 对DBS的临床反应在8年的随访期间进行了评估.
主要成果:
- 在THAP1基因中确定了一种可能的致病性异构体变异 (c.98G>A p.(Cys33Tyr)).
- 患者经历了显著和持续的改善在DBS后的泛型 dystonia 症状.
- 尽管有DBS,但患者仍然需要注射肉毒素,以治疗残留的宫 dystonia.
结论:
- 鉴定到的THAP1变种很可能是致病性,并导致患者的 dystonia.
- 对GPi的深度大脑刺激是一种有效的长期治疗,用于遗传确认的 dystonia.
- 使用DBS和肉毒素的联合治疗方法可能是必要的,以优化复杂的 dystonia 病例的管理.
更多相关视频
10:41Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
14:14Targeting Neuronal Fiber Tracts for Deep Brain Stimulation Therapy Using Interactive, Patient-Specific Models
Published on: August 12, 2018
相关概念视频
Parkinson's Disease: Overview
Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin
The binding of dantrolene to the RYR1...
Parkinson's Disease: Treatment
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Myasthenia Gravis: Diagnostic Tests
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
Neural Regulation