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Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Open access
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., for the Movement Disorder Society‐Endorsed PSP Study Group·2017·Movement Disorders

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. © 2017 International Parkinson and Movement Disorder Society

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Authors
Respondek, G., Kurz, C., Arzberger, T., Compta, Y., Englund, E., Ferguson, L. W., Gelpi, E., Giese, A., Irwin, D. J., Meissner, W. G., Nilsson, C., Pantelyat, A., Rajput, A., van Swieten, J. C., Troakes, C., Josephs, K. A., Lang, A. E., Mollenhauer, B., Müller, U., Whitwell, J. L., Antonini, A., Bhatia, K. P., Bordelon, Y., Corvol, J., Colosimo, C., Dodel, R., Grossman, M., Kassubek, J., Krismer, F., Levin, J., Lorenzl, S., Morris, H., Nestor, P., Oertel, W. H., Rabinovici, G. D., Rowe, J. B., van Eimeren, T., Wenning, G. K., Boxer, A., Golbe, L. I., Litvan, I., Stamelou, M., Höglinger, G. U., & for the Movement Disorder Society‐Endorsed PSP Study Group
Venue
Movement Disorders
Publisher
Wiley
Published
2017-05-13
Volume
32
Issue
7
Pages
995-1005
ISSN
  • 0885-3185 (ISSN-L)
  • 1531-8257
OpenAlex
W2616800762
Cited by
169
References
8
FWCI
11.39
Type
journal article
Language
en
Open access
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Respondek, G., Kurz, C., Arzberger, T., Compta, Y., Englund, E., Ferguson, L. W., Gelpi, E., Giese, A., Irwin, D. J., Meissner, W. G., Nilsson, C., Pantelyat, A., Rajput, A., van Swieten, J. C., Troakes, C., Josephs, K. A., Lang, A. E., Mollenhauer, B., Müller, U., . . . for the Movement Disorder Society‐Endorsed PSP Study Group. (2017). Which ante mortem clinical features predict progressive supranuclear palsy pathology? Movement Disorders. https://doi.org/10.1002/mds.27034

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