EFNS/MDS-ES recommendations for the diagnosis of Parkinson's disease
EFNS/MDS-ES recommendations for the diagnosis of Parkinson's disease
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DOI：
10.1111/ene.12022
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发表时间：
2013-01-01
影响因子：
5.1
通讯作者：
Vidailhet, M.
中科院分区：
文献类型：
--
作者：
Berardelli, A.;Wenning, G. K.;Vidailhet, M.
背景：EFNS/MDS-ES 帕金森病（PD）和其他运动障碍科学家小组召集了一个工作组，系统审查有关帕金森病诊断的相关出版物。方法：按照 EFNS 指导制定神经病学诊断指南，制定了诊断标准和调查的推荐级别。结果：对于临床诊断，我们推荐使用 Queen Square Brain Bank 标准（B 级）。建议针对个体进行特定突变的基因检测（B 级），同时考虑到特定特征（即家族史和发病年龄）。我们建议通过嗅觉测试将帕金森病与其他帕金森病（包括隐性帕金森病）区分开来（A 级）。由于特异性有限，通过嗅觉测试筛查运动前 PD 需要进行额外的测试。不建议药物激发试验用于新发帕金森病患者的诊断。没有足够的证据支持它们在帕金森病和其他帕金森综合征的鉴别诊断中的作用。我们建议在疑似帕金森病病例的初步评估中进行认知评估并筛查快速眼动睡眠行为障碍、精神病表现和严重抑郁症（A 级）。建议使用经颅超声检查来区分 PD 与非典型和继发性帕金森病（A 级）、早期诊断 PD 以及检测有 PD 风险的受试者（A 级），尽管该技术迄今为止尚未普遍使用并且需要一些专业知识。由于 TCS 对 PD 发展的特异性有限，因此 TCS 应与其他筛查试验结合使用。推荐使用传统磁共振成像和 1.5 T 扩散加权成像作为神经影像工具，可根据区域萎缩和信号变化以及扩散模式支持多系统萎缩 (MSA) 或进行性核上性麻痹与 PD 的诊断（A 级）。 DaTscan SPECT 在欧洲和美国注册，用于鉴别诊断退行性帕金森病和特发性震颤（A 级）。更具体地说，DaTscan 适用于存在显着诊断不确定性的情况，例如与抗精神病药暴露相关的帕金森病和非典型震颤表现，例如孤立性单侧姿势性震颤。 [I-123]MIBG/SPECT 心脏摄取研究可用于识别 PD 患者与对照组和 MSA 患者（A 级）。所有其他 SPECT 成像研究均不符合注册标准，不能推荐用于常规临床使用。目前，自主神经功能检查、神经生理学检查和正电子发射断层扫描成像对PD的诊断效果尚无定论。结论：PD的诊断很大程度上仍取决于对其临床特征的正确识别。选定的研究（遗传、嗅觉和神经影像学研究）在确认诊断方面具有辅助作用，其中一些可能在不久的将来用于识别处于疾病症状前阶段的受试者。
Background: A Task Force was convened by the EFNS/MDS-ES Scientist Panel on Parkinson's disease (PD) and other movement disorders to systemically review relevant publications on the diagnosis of PD.Methods: Following the EFNS instruction for the preparation of neurological diagnostic guidelines, recommendation levels have been generated for diagnostic criteria and investigations.Results: For the clinical diagnosis, we recommend the use of the Queen Square Brain Bank criteria (Level B). Genetic testing for specific mutations is recommended on an individual basis (Level B), taking into account specific features (i.e. family history and age of onset). We recommend olfactory testing to differentiate PD from other parkinsonian disorders including recessive forms (Level A). Screening for premotor PD with olfactory testing requires additional tests due to limited specificity. Drug challenge tests are not recommended for the diagnosis in de novo parkinsonian patients. There is an insufficient evidence to support their role in the differential diagnosis between PD and other parkinsonian syndromes. We recommend an assessment of cognition and a screening for REM sleep behaviour disorder, psychotic manifestations and severe depression in the initial evaluation of suspected PD cases (Level A). Transcranial sonography is recommended for the differentiation of PD from atypical and secondary parkinsonian disorders (Level A), for the early diagnosis of PD and in the detection of subjects at risk for PD (Level A), although the technique is so far not universally used and requires some expertise. Because specificity of TCS for the development of PD is limited, TCS should be used in conjunction with other screening tests. Conventional magnetic resonance imaging and diffusion-weighted imaging at 1.5 T are recommended as neuroimaging tools that can support a diagnosis of multiple system atrophy (MSA) or progressive supranuclear palsy versus PD on the basis of regional atrophy and signal change as well as diffusivity patterns (Level A). DaTscan SPECT is registered in Europe and the United States for the differential diagnosis between degenerative parkinsonisms and essential tremor (Level A). More specifically, DaTscan is indicated in the presence of significant diagnostic uncertainty such as parkinsonism associated with neuroleptic exposure and atypical tremor manifestations such as isolated unilateral postural tremor. Studies of [I-123]MIBG/SPECT cardiac uptake may be used to identify patients with PD versus controls and MSA patients (Level A). All other SPECT imaging studies do not fulfil registration standards and cannot be recommended for routine clinical use. At the moment, no conclusion can be drawn as to diagnostic efficacy of autonomic function tests, neurophysiological tests and positron emission tomography imaging in PD.Conclusions: The diagnosis of PD is still largely based on the correct identification of its clinical features. Selected investigations (genetic, olfactory, and neuroimaging studies) have an ancillary role in confirming the diagnosis, and some of them could be possibly used in the near future to identify subjects in a pre-symptomatic phase of the disease.