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Respondek, Gesine; Grimm, Max-Joseph; Piot, Ines; Arzberger, Thomas; Compta, Yaroslau; Englund, Elisabet; Ferguson, Leslie W.; Gelpi, Ellen; Roeber, Sigrun; Giese, Armin; Grossman, Murray; Irwin, David J.; Meissner, Wassilios G.; Nilsson, Christer; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C.; Troakes, Claire; Höglinger, Guenter U.; Aiba, Ikuko; Antonini, Angelo; Barone, Paolo; Bhatia, Kailash P.; Boxer, Adam K.; Colosimo, Carlo; Corvol, Jean Christophe; Dickson, Dennis W.; Golbe, Lawrence; Hopfner, Franziska; Josephs, Keith A.; Kassubek, Jan; Kovacs, Gabor G.; Lang, Anthony E.; Levin, Johannes; Litvan, Irene; Hollerhage, Matthias; McFarland, Nikolaus; Morris, Huw R.; Müller, Ulrich; Oertel, Wolfgang H.; Rowe, James B.; Sakakibara, Ruji; Schellenberg, Gerard; Stamelou, Maria; van Eimeren, Thilo; Wenning, Gregor K.; Whitwell, Jennifer L. (2019): Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathies. In: Movement Disorders, Vol. 35, No. 1: pp. 171-176
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Abstract

Background The Movement Disorder Society criteria for progressive supranuclear palsy introduced the category "probable 4-repeat (4R)-tauopathy" for joint clinical diagnosis of progressive supranuclear palsy and corticobasal degeneration. Objectives To validate the accuracy of these clinical criteria for "probable 4R-tauopathy" to predict underlying 4R-tauopathy pathology. Methods Diagnostic accuracy for 4R-tauopathies according to the established criteria was estimated retrospectively in autopsy-confirmed patients with progressive supranuclear palsy and corticobasal degeneration (grouped as 4R-tauopathies), and Parkinson's disease, multiple system atrophy, and frontotemporal lobar degeneration (grouped as non-4R-tauopathies). Results We identified 250 cases with progressive supranuclear palsy (N = 195) and corticobasal degeneration (N = 55) and with and non-4R-tauopathies (N = 161). Sensitivity and specificity of "probable 4R-tauopathy" was 10% and 99% in the first year and 59% and 88% at final record. Conclusions The new diagnostic category "probable 4R-tauopathy" showed high specificity and may be suitable for the recruitment of patients with progressive supranuclear palsy and corticobasal degeneration into therapeutic trials targeting 4R-tauopathy. The low sensitivity underpins the need for diagnostic biomarkers. (c) 2019 International Parkinson and Movement Disorder Society

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