Predicting Parkinson's disease - why, when, and how?
Predicting Parkinson's disease - why, when, and how?
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DOI：
10.1016/s1353-8020(09)70793-x
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发表时间：
2009-12-01
影响因子：
4.1
通讯作者：
Montplaisir, J.
中科院分区：
文献类型：
--
作者：
Postuma, R. B.;Montplaisir, J.
帕金森氏病（PD）是一种进行性疾病，具有症状前间期;也就是说，在此期间，病理过程已经开始，但缺乏临床诊断所需的运动体征。有相当大的兴趣，发现标志物，以诊断这一临床前阶段。目前的预测标记物开发主要源于两个原则：第一，病理过程发生在黑质受累之前的下脑干区域，第二，冗余和代偿反应导致症状仅在晚期变性后出现。最近在前瞻性病理研究中证明嗅觉下降可预测PD，尽管前置时间可能相对较短并且阳性预测值和特异性较低。筛查患者的抑郁和性格变化，自主神经症状，定量测试的细微运动功能障碍，嗜睡和失眠是其他潜在的简单标志。更多的侵入性措施，如详细的自主神经测试，心脏MIBG-动脉造影，经颅超声，多巴胺能功能成像可能是特别有用的，在那些在高风险或进一步确定风险的那些通过初步筛选。尽管有有趣的线索，但临床前标志物的直接测试一直受到限制，主要是因为没有可靠的方法来识别临床前疾病。特发性RBD的特征是REM睡眠时正常张力不足。大约50%的受影响的人将在10年内发展为PD或痴呆症。这为在临床疾病发作之前测试潜在的预测标志物提供了前所未有的机会。特发性RBD的标志物检测结果及其对疾病预测的影响将详细介绍。(C)2009爱思唯尔有限公司版权所有。
Parkinson's disease (PD) is a progressive disorder with a presymptomatic interval; that is, there is a period during which the pathologic process has begun, but motor signs required for the clinical diagnosis are absent. There is considerable interest in discovering markers to diagnose this preclinical stage. Current predictive marker development stems mainly from two principles; first, that pathologic processes occur in lower brainstem regions before substantia nigra involvement and second, that redundancy and compensatory responses cause symptoms to emerge only after advanced degeneration.Decreased olfaction has recently been demonstrated to predict PD in prospective pathologic studies, although the lead time may be relatively short and the positive predictive value and specificity are low. Screening patients for depression and personality changes, autonomic symptoms, subtle motor dysfunction on quantitative testing, sleepiness and insomnia are other potential simple markers. More invasive measures such as detailed autonomic testing, cardiac MIBG-scintigraphy, transcranial ultrasound, and dopaminergic functional imaging may be especially useful in those at high risk or for further defining risk in those identified through primary screening. Despite intriguing leads, direct testing of preclinical markers has been limited, mainly because there is no reliable way to identify preclinical disease.Idiopathic RBD is characterized by loss of normal atonia with REM sleep. Approximately 50% of affected individuals will develop PD or dementia within 10 years. This provides an unprecedented opportunity to test potential predictive markers before clinical disease onset. The results of marker testing in idiopathic RBD with its implications for disease prediction will be detailed. (C) 2009 Elsevier Ltd. All rights reserved.