Respondek Gesine, Kurz Carolin, Arzberger Thomas, Compta Yaroslau, Englund Elisabet, Ferguson Leslie W, Gelpi Ellen, Giese Armin, Irwin David J, Meissner Wassilios G, Nilsson Christer, Pantelyat Alexander, Rajput Alex, van Swieten John C, Troakes Claire, Josephs Keith A, Lang Anthony E, Mollenhauer Brit, Müller Ulrich, Whitwell Jennifer L, Antonini Angelo, Bhatia Kailash P, Bordelon Yvette, Corvol Jean-Christophe, Colosimo Carlo, Dodel Richard, Grossman Murray, Kassubek Jan, Krismer Florian, Levin Johannes, Lorenzl Stefan, Morris Huw, Nestor Peter, Oertel Wolfgang H, Rabinovici Gil D, Rowe James B, van Eimeren Thilo, Wenning Gregor K, Boxer Adam, Golbe Lawrence I, Litvan Irene, Stamelou Maria, Höglinger Günter U
Department of Neurology, Technische Universität München, Munich, Germany.
German Center for Neurodegenerative Diseases, Munich, Germany.
Mov Disord. 2017 Jul;32(7):995-1005. doi: 10.1002/mds.27034. Epub 2017 May 13.
Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes.
To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP.
We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology. We then extracted standardized data from clinical charts of patients with pathologically diagnosed PSP and relevant disease controls and calculated the sensitivity, specificity, and positive predictive value of key clinical features for PSP in this cohort.
Of 4166 articles identified by the database inquiry, 269 met predefined standards. The literature review identified clinical features predictive of PSP, including features of the following 4 functional domains: ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction. No biomarker or genetic feature was found reliably validated to predict definite PSP. High-quality original natural history data were available from 206 patients with pathologically diagnosed PSP and from 231 pathologically diagnosed disease controls (54 corticobasal degeneration, 51 multiple system atrophy with predominant parkinsonism, 53 Parkinson's disease, 73 behavioral variant frontotemporal dementia). We identified clinical features that predicted PSP pathology, including phenotypes other than Richardson's syndrome, with varying sensitivity and specificity.
Our results highlight the clinical variability of PSP and the high prevalence of phenotypes other than Richardson's syndrome. The features of variant phenotypes with high specificity and sensitivity should serve to optimize clinical diagnosis of PSP. © 2017 International Parkinson and Movement Disorder Society.
进行性核上性麻痹（PSP）是一种经神经病理学定义的疾病，具有广泛的临床表型。
确定在生前预测或排除PSP病理改变的临床特征及检查方法，旨在优化PSP的临床诊断标准。
我们对1996年以来发表的文献进行了系统综述，以确定可能预测或排除PSP病理改变的临床特征及检查方法。然后，我们从经病理诊断的PSP患者及相关疾病对照的临床病历中提取标准化数据，并计算该队列中PSP关键临床特征的敏感性、特异性和阳性预测值。
通过数据库检索共识别出4166篇文章，其中269篇符合预定义标准。文献综述确定了可预测PSP的临床特征，包括以下4个功能领域的特征：眼球运动功能障碍、姿势不稳、运动不能和认知功能障碍。未发现经可靠验证可预测明确PSP的生物标志物或基因特征。从206例经病理诊断的PSP患者和231例经病理诊断的疾病对照（54例皮质基底节变性、51例以帕金森综合征为主的多系统萎缩、53例帕金森病、73例行为变异型额颞叶痴呆）中获得了高质量的原始自然史数据。我们确定了可预测PSP病理改变的临床特征，包括理查森综合征以外的表型，其敏感性和特异性各不相同。
我们的结果突出了PSP的临床变异性以及理查森综合征以外表型的高患病率。具有高特异性和敏感性的变异表型特征应有助于优化PSP的临床诊断。©2017国际帕金森病和运动障碍协会。
