Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Forskningsoutput: TidskriftsbidragÖversiktsartikel


title = "Which ante mortem clinical features predict progressive supranuclear palsy pathology?",
abstract = "Background: Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. Objective: 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. Methods: 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. Results: 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. Conclusions: 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.",
keywords = "clinical features, clinico-pathological series, diagnosis, Progressive supranuclear palsy, systematic review",
author = "Gesine Respondek and Carolin Kurz and Thomas Arzberger and Yaroslau Compta and Elisabet Englund and Ferguson, {Leslie W.} and Ellen Gelpi and Armin Giese and Irwin, {David J.} and Meissner, {Wassilios G.} and Christer Nilsson and Alexander Pantelyat and Alex Rajput and {van Swieten}, {John C.} and Claire Troakes and Josephs, {Keith A.} and Lang, {Anthony E.} and Brit Mollenhauer and Ulrich M{\"u}ller and Whitwell, {Jennifer L.} and Angelo Antonini and Bhatia, {Kailash P.} and Yvette Bordelon and Corvol, {Jean Christophe} and Carlo Colosimo and Richard Dodel and Murray Grossman and Jan Kassubek and Florian Krismer and Johannes Levin and Stefan Lorenzl and Huw Morris and Peter Nestor and Oertel, {Wolfgang H.} and Rabinovici, {Gil D.} and Rowe, {James B.} and {van Eimeren}, Thilo and Wenning, {Gregor K.} and Adam Boxer and Golbe, {Lawrence I.} and Irene Litvan and Maria Stamelou and H{\"o}glinger, {G{\"u}nter U.} and {for the Movement Disorder Society-Endorsed PSP Study Group}",
year = "2017",
month = "7",
day = "1",
doi = "10.1002/mds.27034",
language = "English",
volume = "32",
pages = "995--1005",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "John Wiley & Sons",
number = "7",