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帕金森病:用于诊断、疾病风险评估和药物治疗个体化的现有临床及有前景的组学检测方法

Parkinson's Disease: Available Clinical and Promising Omics Tests for Diagnostics, Disease Risk Assessment, and Pharmacotherapy Personalization.

作者信息

Trifonova Oxana P, Maslov Dmitri L, Balashova Elena E, Urazgildeeva Guzel R, Abaimov Denis A, Fedotova Ekaterina Yu, Poleschuk Vsevolod V, Illarioshkin Sergey N, Lokhov Petr G

机构信息

Laboratory of mass spectrometry-based metabolomics diagnostics, Institute of Biomedical Chemistry, 10 building 8, Pogodinskaya street, 119121 Moscow, Russia.

5th Neurological Department (Department of Neurogenetics), Research Centre of Neurology, Volokolamskoe shosse, 80, 125367 Moscow, Russia.

出版信息

Diagnostics (Basel). 2020 May 25;10(5):339. doi: 10.3390/diagnostics10050339.

DOI:10.3390/diagnostics10050339
PMID:32466249
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7277996/
Abstract

Parkinson's disease is the second most frequent neurodegenerative disease, representing a significant medical and socio-economic problem. Modern medicine still has no answer to the question of why Parkinson's disease develops and whether it is possible to develop an effective system of prevention. Therefore, active work is currently underway to find ways to assess the risks of the disease, as well as a means to extend the life of patients and improve its quality. Modern studies aim to create a method of assessing the risk of occurrence of Parkinson's disease (PD), to search for the specific ways of correction of biochemical disorders occurring in the prodromal stage of Parkinson's disease, and to personalize approaches to antiparkinsonian pharmacotherapy. In this review, we summarized all available clinically approved tests and techniques for PD diagnostics. Then, we reviewed major improvements and recent advancements in genomics, transcriptomics, and proteomics studies and application of metabolomics in PD research, and discussed the major metabolomics findings for diagnostics and therapy of the disease.

摘要

帕金森病是第二常见的神经退行性疾病,是一个重大的医学和社会经济问题。现代医学仍无法回答帕金森病为何会发病以及是否有可能建立有效的预防体系这一问题。因此,目前正在积极开展工作,以寻找评估该疾病风险的方法,以及延长患者寿命并提高其生活质量的手段。现代研究旨在创建一种评估帕金森病(PD)发病风险的方法,寻找纠正帕金森病前驱期发生的生化紊乱的具体方法,并使抗帕金森药物治疗方法个性化。在本综述中,我们总结了所有现有的经临床批准的PD诊断测试和技术。然后,我们回顾了基因组学、转录组学和蛋白质组学研究的主要进展以及代谢组学在PD研究中的应用,并讨论了该疾病诊断和治疗的主要代谢组学发现。

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Applications of machine learning for computer-aided diagnosis of Parkinson's disease: progress and benchmark case study.机器学习在帕金森病计算机辅助诊断中的应用:进展与基准案例研究
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Motor, affective, cognitive, and perceptual symptom changes over time in individuals with Parkinson's disease who develop freezing of gait.帕金森病患者出现冻结步态时,其运动、情感、认知和感知症状随时间的变化情况。
J Neurol. 2025 Apr 8;272(5):321. doi: 10.1007/s00415-025-13034-y.
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Importance of health history analysis in Parkinson's disease.帕金森病健康史分析的重要性。
Heliyon. 2024 Jul 18;10(15):e34858. doi: 10.1016/j.heliyon.2024.e34858. eCollection 2024 Aug 15.
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本文引用的文献

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Diagnosis and Treatment of Parkinson Disease: A Review.帕金森病的诊断与治疗:综述。
JAMA. 2020 Feb 11;323(6):548-560. doi: 10.1001/jama.2019.22360.
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Mass Spectrometry-Based Metabolomics Analysis of Obese Patients' Blood Plasma.基于质谱的肥胖患者血浆代谢组学分析。
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The Challenge and Opportunity to Diagnose Parkinson's Disease in Midlife.中年帕金森病诊断面临的挑战与机遇
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Glucocerebrosidase and its relevance to Parkinson disease.葡萄糖脑苷脂酶及其与帕金森病的关系。
Mol Neurodegener. 2019 Aug 29;14(1):36. doi: 10.1186/s13024-019-0336-2.
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Update of the MDS research criteria for prodromal Parkinson's disease.前驱帕金森病 MDS 研究标准的更新。
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Hyposmia as a Predictive Marker of Parkinson's Disease: A Systematic Review and Meta-Analysis.嗅觉障碍作为帕金森病的预测标志物:系统评价和荟萃分析。
Biomed Res Int. 2019 May 19;2019:3753786. doi: 10.1155/2019/3753786. eCollection 2019.
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Different Circulating Trace Amine Profiles in De Novo and Treated Parkinson's Disease Patients.新发和治疗帕金森病患者的不同循环微量胺谱。
Sci Rep. 2019 Apr 16;9(1):6151. doi: 10.1038/s41598-019-42535-w.
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How I do it: The Neuro-Ophthalmological Assessment in Parkinson's Disease.方法介绍:帕金森病的神经眼科评估。
J Parkinsons Dis. 2019;9(2):427-435. doi: 10.3233/JPD-181523.