A critique of the second consensus criteria for multiple system atrophy
A critique of the second consensus criteria for multiple system atrophy
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DOI：
10.1002/mds.27701
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发表时间：
2019-07-01
影响因子：
8.6
通讯作者：
Wenning, Gregor K.
中科院分区：
文献类型：
--
作者：
Stankovic, Iva;Quinn, Niall;Wenning, Gregor K.
多系统萎缩（MSA）是一种成人发病的进行性神经退行性疾病，临床表现为自主神经功能衰竭、帕金森综合征和共济失调的任何组合。由错误折叠的α-突触核蛋白组成的少突胶质细胞胞质包涵体是疾病的病理标志。1 MSA的临床诊断通常由于疾病早期阶段的不完整或非特异性表现而延迟。[2] Quinn于1989年首次发表了MSA的诊断标准。[4]从那时起，19985年的第一个共识标准及其20086年的修订版已被广泛接受为MSA的诊断指南。在一项检查第二个共识标准有效性的临床病理学研究中，6首次访视时可能和很可能MSA的敏感性分别为41%和18%，末次访视时分别增加至92%和63%。7在最近的一项脑库研究中，根据第二个共识标准，回顾性地对134名可能或很可能患有MSA的患者进行了诊断，6只有83名（62%）符合MSA的病理学标准：最常见的误诊原因为路易体痴呆（DLB）19例（37%），其次为进行性核上性麻痹（PSP）15例（29%）帕金森病（PD）8例（15%）。8在疾病早期阶段开发良好的诊断工具是估计疾病预后和在临床试验中评价新的疾病改善治疗的先决条件。因此，在第一次神经病学访视时达到非常好的特异性并克服现有标准的不良敏感性是至关重要的。运动障碍协会（MDS）MSA研究小组开发了一份问卷（见表1），突出了与MSA诊断的第二个共识标准相关的关键问题。[6]调查表分发给提供反馈的合著者，这些反馈导致了本评论。
Multiple system atrophy (MSA) is an adult-onset progressive neurodegenerative disorder that manifests clinically with autonomic failure, parkinsonism, and ataxia in any combination. Oligodendroglial cytoplasmatic inclusions consisting of misfolded α-synuclein are a pathological hallmark of disease. 1 The clinical diagnosis of MSA is typically delayed as a result of incomplete or nonspecific manifestations during early disease stages. 2, 3 Quinn first published diagnostic criteria for MSA in 1989. 4 Since then, the first consensus criteria in 19985 and their revision in 20086 have been widely accepted as diagnostic guidelines for MSA. In a clinicopathological study examining the validity of the second consensus criteria, 6 the sensitivities for possible and probable MSA at first visit were 41% and 18%, respectively, increasing to 92% and 63% at last visit. 7 In a recent brain bank study on 134 patients retrospectively assigned a diagnosis of possible or probable MSA according to the second consensus criteria, 6 only 83 (62%) met the pathological criteria for MSA: the most common causes of misdiagnosis were dementia with Lewy bodies (DLB) in 19 (37%) followed by progressive supranuclear palsy (PSP) in 15 (29%) and Parkinson’s disease (PD) in 8 (15%) cases. 8 Developing good diagnostic tools in the early disease stages is a prerequisite for an estimation of disease prognosis and evaluation of novel disease-modifying treatments in clinical trials. Therefore, it is of paramount importance to achieve very good specificity and to overcome the poor sensitivity of the existing criteria at the first neurological visit. The Movement Disorder Society (MDS) MSA Study Group developed a questionnaire (see Table 1) highlighting the critical issues associated with the second consensus criteria for the diagnosis of MSA. 6 The questionnaire was distributed among the coauthors who provided feedback resulting in the present critique.