The early diagnosis of Parkinson's disease
The early diagnosis of Parkinson's disease
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帕金森病的早期诊断
DOI：
10.1002/ana.410440704
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发表时间：
1998-09-01
影响因子：
11.2
通讯作者：
Brooks, DJ
中科院分区：
文献类型：
--
作者：
Brooks, DJ
目前公认的帕金森病（PD）临床诊断标准对检测帕金森综合征具有较高的敏感性，但在识别脑干路易体病方面通常特异性较差。迄今为止，人们一直在寻找可用于可靠诊断临床期和临床前期帕金森病的生化标志物，但均未成功。现在已知一些帕金森病家族存在α - 突触核蛋白基因突变，但这不能作为大多数家族性和散发性病例的遗传标记。功能成像为区分典型和非典型帕金森病提供了一种方法，它揭示了多巴胺能功能丧失的特征模式。此外，正电子发射断层扫描（PET）和单光子发射计算机断层扫描（SPECT）显示帕金森病患者纹状体代谢和多巴胺受体结合水平保持不变，而在非典型变异型中这些水平降低。[¹⁸F] - 多巴PET还可检测临床前期帕金森病。在一个系列研究中，据报道家族性帕金森病患者的无症状成年亲属中临床前期多巴胺能功能障碍的患病率为40%。最后，PET和SPECT均可用于客观地跟踪帕金森病的进展。此类研究表明，早期帕金森病患者多巴胺末梢功能每年丧失4% - 12%，临床前期疾病窗口期仅为几年。未来，功能成像可能在评估假定的神经保护剂的疗效方面发挥越来越重要的作用。
Current accepted clinical criteria for the diagnosis of Parkinson's disease (PD) provide high sensitivity for detecting parkinsonism but generally show poor specificity for identifying brainstem Lewy body disease. Biochemical markers that can be used to reliably diagnose clinical and preclinical PD have thus far been sought unsuccessfully. It is now known that some PD kindreds have a mutation of the alpha-synuclein gene, but this cannot be used as a genetic marker for most familial and sporadic cases. Functional imaging provides a means of discriminating typical from atypical PD, revealing characteristic patterns of loss of dopaminergic function. In addition, PET and SPECT show preserved levels of striatal metabolism and dopamine receptor binding in PD, whereas levels are reduced in the atypical variants. [F-18]Dopa PET can also detect preclinical PD. In one series there was a reported 40% prevalence of preclinical dopaminergic dysfunction in asymptomatic adult relatives of familial PD patients. Finally, PET and SPECT can both be used to follow PD progression objectively. Such studies suggest an annual 4 to 12% loss of dopamine terminal function in early PD and a preclinical disease window of only a few years. In the future, functional imaging is likely to play an increasingly important role in assessing the efficacy of putative neuroprotective agents.