Ligaard Johanne, Sannæs Julia, Pihlstrøm Lasse
1Faculty of Medicine, University of Oslo, Oslo, Norway.
2Department of Neurology, Oslo University Hospital, Oslo, Norway.
NPJ Parkinsons Dis. 2019 Sep 6;5:18. doi: 10.1038/s41531-019-0091-7. eCollection 2019.
Deep brain stimulation is offered as symptomatic treatment in advanced Parkinson's disease, depending on a clinical assessment of the individual patient's risk-benefit profile. Genetics contribute to phenotypic variability in Parkinson's disease, suggesting that genetic testing could have clinical relevance for personalized therapy. Aiming to review current evidence linking genetic variation to deep brain stimulation treatment and outcomes in Parkinson's disease we performed systematic searches in the Embase and PubMed databases to identify relevant publications and summarized the findings. We identified 39 publications of interest. Genetic screening studies indicate that monogenic forms of Parkinson's disease and high-risk variants of may be more common in cohorts treated with deep brain stimulation. Studies assessing deep brain stimulation outcomes in patients carrying mutations in specific genes are limited in size. There are reports suggesting that the phenotype associated with parkin mutations could be suitable for early surgery. In patients with mutations, outcomes of deep brain stimulation seem at least as good as in mutation-negative patients, whereas less favorable outcomes are seen in patients carrying mutations in . Careful assessment of clinical symptoms remains the primary basis for clinical decisions associated with deep brain stimulation surgery in Parkinson's disease, although genetic information could arguably be taken into account in special cases. Current evidence is scarce, but highlights a promising development where genetic profiling may be increasingly relevant for clinicians tailoring personalized medical or surgical therapy to Parkinson's disease patients.
对于晚期帕金森病，深部脑刺激作为一种对症治疗方法，需根据对个体患者风险效益状况的临床评估来决定是否采用。遗传学因素导致了帕金森病的表型变异，这表明基因检测可能对个性化治疗具有临床意义。为了综述目前将基因变异与帕金森病深部脑刺激治疗及结果联系起来的证据，我们在Embase和PubMed数据库中进行了系统检索，以识别相关出版物并总结研究结果。我们共识别出39篇相关文献。基因筛查研究表明，帕金森病的单基因形式和某些基因的高风险变异在接受深部脑刺激治疗的队列中可能更为常见。评估特定基因突变患者深部脑刺激治疗结果的研究规模有限。有报道称，与帕金基因突变相关的表型可能适合早期手术。在携带某些基因突变的患者中，深部脑刺激的效果似乎至少与未携带该突变的患者一样好，而携带另一些基因突变的患者则预后较差。仔细评估临床症状仍然是帕金森病深部脑刺激手术临床决策的主要依据，不过在特殊情况下，基因信息也可考虑纳入决策。目前证据不足，但凸显了一个有前景的发展方向，即基因谱分析可能对临床医生为帕金森病患者量身定制个性化药物或手术治疗越来越重要。
