Cabreira Verónica, Massano João
Serviço de Neurologia. Centro Hospitalar Universitário de São João. Porto; Departamento de Neurociências Clínicas e Saúde Mental. Faculdade de Medicina. Universidade do Porto. Porto. Portugal.
Serviço de Neurologia. Centro Hospitalar Universitário de São João. Porto. Departamento de Neurociências Clínicas e Saúde Mental. Faculdade de Medicina. Universidade do Porto. Porto. Portugal.
Acta Med Port. 2019 Oct 1;32(10):661-670. doi: 10.20344/amp.11978.
Parkinson's disease is the second most common neurodegenerative disorder, and a significant increase in its prevalence in the past three decades has been documented. Environmental and genetic factors contribute to the pathophysiology of this disease, and 5% - 10% of cases have a monogenic cause. The diagnosis relies on clinical findings, supported by adequate testing. There is no absolute method to diagnose Parkinson's disease in vivo, except for genetic testing in specific circumstances, whose usefulness is limited to a minority of cases. New diagnostic criteria have been recently proposed with the aim of improving diagnostic accuracy, emphasizing findings that might point to other causes of parkinsonism. The available therapeutic options are clinically useful, as they improve the symptoms as well as the quality of life of patients. After the introduction of levodopa, deep brain stimulation emerged as the second therapy with an important symptomatic impact in the treatment of Parkinson's disease. Non-motor symptoms and motor complications are responsible for a large proportion of disability, so these should be identified and treated. Current scientific research is focused on the identification of disease biomarkers allowing correct and timely diagnosis, and on creating more effective therapies, thus fulfilling current clinical unmet needs. This paper presents an updated review on Parkinson's disease, guiding the readership through current concepts, and allowing their application to daily clinical practice.
帕金森病是第二常见的神经退行性疾病,过去三十年其患病率显著上升。环境和遗传因素导致了该疾病的病理生理过程,5% - 10%的病例有单基因病因。诊断依赖于临床发现,并辅以适当的检测。除了在特定情况下进行基因检测(其作用仅限于少数病例)外,没有绝对的体内诊断帕金森病的方法。最近提出了新的诊断标准,旨在提高诊断准确性,强调可能指向帕金森综合征其他病因的发现。现有的治疗选择在临床上是有用的,因为它们能改善患者的症状和生活质量。左旋多巴问世后,脑深部电刺激作为第二种疗法出现,对帕金森病的治疗有重要的症状改善作用。非运动症状和运动并发症导致了很大一部分残疾,因此应识别并治疗这些症状。当前的科学研究集中在识别疾病生物标志物以实现正确和及时的诊断,以及创造更有效的疗法,从而满足当前临床未满足的需求。本文对帕金森病进行了最新综述,引导读者了解当前概念,并使其应用于日常临床实践。