Department of Neurology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg Gothenburg, Sweden.
Front Neurol. 2013 Jan 21;3:187. doi: 10.3389/fneur.2012.00187. eCollection 2012.
The Parkinsonian disorders are a large group of neurodegenerative diseases including idiopathic Parkinson's disease (PD) and atypical Parkinsonian disorders (APD), such as multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration, and dementia with Lewy bodies. The etiology of these disorders is not known although it is considered to be a combination of genetic and environmental factors. One of the greatest obstacles for developing efficacious disease-modifying treatment strategies is the lack of biomarkers. Reliable biomarkers are needed for early and accurate diagnosis, to measure disease progression, and response to therapy. In this review several of the most promising cerebrospinal biomarker candidates are discussed. Alpha-synuclein seems to be intimately involved in the pathogenesis of synucleinopathies and its levels can be measured in the cerebrospinal fluid and in plasma. In a similar way, tau protein accumulation seems to be involved in the pathogenesis of tauopathies. Urate, a potent antioxidant, seems to be associated to the risk of developing PD and with its progression. Neurofilament light chain levels are increased in APD compared with PD and healthy controls. The new "omics" techniques are potent tools offering new insights in the patho-etiology of these disorders. Some of the difficulties encountered in developing biomarkers are discussed together with future perspectives.
帕金森病是一大类神经退行性疾病,包括特发性帕金森病(PD)和非典型帕金森病(APD),如多系统萎缩、进行性核上性麻痹、皮质基底节变性和路易体痴呆。这些疾病的病因尚不清楚,但被认为是遗传和环境因素的结合。开发有效疾病修饰治疗策略的最大障碍之一是缺乏生物标志物。可靠的生物标志物对于早期和准确的诊断、测量疾病进展以及对治疗的反应是必要的。在这篇综述中,讨论了一些最有前途的脑脊液生物标志物候选物。α-突触核蛋白似乎与突触核蛋白病的发病机制密切相关,其水平可以在脑脊液和血浆中测量。以类似的方式,tau 蛋白积累似乎与 tau 病的发病机制有关。尿酸,一种有效的抗氧化剂,似乎与帕金森病的发病风险及其进展有关。与 PD 和健康对照组相比,神经丝轻链水平在 APD 中升高。新的“组学”技术是有力的工具,为这些疾病的病理生理学提供了新的见解。还讨论了在开发生物标志物时遇到的一些困难以及未来的展望。