Section of Neurology, Laboratory of Clinical Neurochemistry, Department of Medicine, University of Perugia, Perugia, Italy.
Section of Neurology, Department of Medicine, University of Perugia, Perugia, Italy.
Lancet Neurol. 2019 Jun;18(6):573-586. doi: 10.1016/S1474-4422(19)30024-9. Epub 2019 Apr 10.
In the management of Parkinson's disease, reliable diagnostic and prognostic biomarkers are urgently needed. The diagnosis of Parkinson's disease mostly relies on clinical symptoms, which hampers the detection of the earliest phases of the disease-the time at which treatment with forthcoming disease-modifying drugs could have the greatest therapeutic effect. Reliable prognostic markers could help in predicting the response to treatments. Evidence suggests potential diagnostic and prognostic value of CSF and blood biomarkers closely reflecting the pathophysiology of Parkinson's disease, such as α-synuclein species, lysosomal enzymes, markers of amyloid and tau pathology, and neurofilament light chain. A combination of multiple CSF biomarkers has emerged as an accurate diagnostic and prognostic model. With respect to early diagnosis, the measurement of CSF α-synuclein aggregates is providing encouraging preliminary results. Blood α-synuclein species and neurofilament light chain are also under investigation because they would provide a non-invasive tool, both for early and differential diagnosis of Parkinson's disease versus atypical parkinsonian disorders, and for disease monitoring. In view of adopting CSF and blood biomarkers for improving Parkinson's disease diagnostic and prognostic accuracy, further validation in large independent cohorts is needed.
在帕金森病的管理中，迫切需要可靠的诊断和预后生物标志物。帕金森病的诊断主要依赖于临床症状，这阻碍了对疾病最早阶段的检测——此时使用即将出现的疾病修饰药物治疗可能具有最大的治疗效果。可靠的预后标志物有助于预测对治疗的反应。有证据表明，与帕金森病病理生理学密切相关的 CSF 和血液生物标志物具有潜在的诊断和预后价值，如α-突触核蛋白物种、溶酶体酶、淀粉样蛋白和 tau 病理标志物以及神经丝轻链。多种 CSF 生物标志物的组合已成为一种准确的诊断和预后模型。就早期诊断而言，CSF α-突触核蛋白聚集体的测量提供了令人鼓舞的初步结果。血液α-突触核蛋白物种和神经丝轻链也在研究中，因为它们将为帕金森病与非典型帕金森病障碍的早期和鉴别诊断以及疾病监测提供一种非侵入性工具。鉴于采用 CSF 和血液生物标志物来提高帕金森病诊断和预后的准确性，需要在大型独立队列中进一步验证。
