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3. Mid- and late-life lifestyle activities as main drivers of general and domain-specific cognitive reserve in individuals with Parkinson’s disease: cross-sectional and longitudinal evidence from the LANDSCAPE study

Author

Ophey, Anja, Wirtz, Kathrin, Wolfsgruber, Steffen, Balzer-Geldsetzer, Monika, Berg, Daniela, Hilker-Roggendorf, Rüdiger, Kassubek, Jan, Liepelt-Scarfone, Inga, Becker, Sara, Mollenhauer, Britt, Reetz, Kathrin, Riedel, Oliver, Schulz, Jörg B., Storch, Alexander, Trenkwalder, Claudia, Witt, Karsten, Wittchen, Hans-Ullrich, Dodel, Richard, Roeske, Sandra, and Kalbe, Elke

Published
2024
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4. Expertenempfehlung zur Magnetresonanztomographie bei Muskelerkrankungen

Author

Zeng, Rachel, Schlaeger, Sarah, Türk, Matthias, Baum, Thomas, Deschauer, Marcus, Janka, Rolf, Karampinos, Dimitrios, Kassubek, Jan, Keller-Yamamura, Sarah, Kornblum, Cornelia, Lehmann, Helmar, Lichtenstein, Thorsten, Nagel, Armin M., Reimann, Jens, Rosenbohm, Angela, Schlaffke, Lara, Schmidt, Manuel, Schneider-Gold, Christiane, Schoser, Benedikt, Trollmann, Regina, Vorgerd, Matthias, Weber, Marc-André, Kirschke, Jan S., and Schmidt, Jens

Published
2024
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7. The comorbidity and co-medication profile of patients with progressive supranuclear palsy

Author

Greten, Stephan, Wegner, Florian, Jensen, Ida, Krey, Lea, Rogozinski, Sophia, Fehring, Meret, Heine, Johanne, Doll-Lee, Johanna, Pötter-Nerger, Monika, Zeitzschel, Molly, Hagena, Keno, Pedrosa, David J., Eggers, Carsten, Bürk, Katrin, Trenkwalder, Claudia, Claus, Inga, Warnecke, Tobias, Süß, Patrick, Winkler, Jürgen, Gruber, Doreen, Gandor, Florin, Berg, Daniela, Paschen, Steffen, Classen, Joseph, Pinkhardt, Elmar H., Kassubek, Jan, Jost, Wolfgang H., Tönges, Lars, Kühn, Andrea A., Schwarz, Johannes, Peters, Oliver, Dashti, Eman, Priller, Josef, Spruth, Eike J., Krause, Patricia, Spottke, Annika, Schneider, Anja, Beyle, Aline, Kimmich, Okka, Donix, Markus, Haussmann, Robert, Brandt, Moritz, Dinter, Elisabeth, Wiltfang, Jens, Schott, Björn H., Zerr, Inga, Bähr, Mathias, Buerger, Katharina, Janowitz, Daniel, Perneczky, Robert, Rauchmann, Boris-Stephan, Weidinger, Endy, Levin, Johannes, Katzdobler, Sabrina, Düzel, Emrah, Glanz, Wenzel, Teipel, Stefan, Kilimann, Ingo, Prudlo, Johannes, Gasser, Thomas, Brockmann, Kathrin, Hoffmann, Daniel C., Klockgether, Thomas, Krause, Olaf, Heck, Johannes, Höglinger, Günter U., and Klietz, Martin

Published
2024
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9. Structural parameters are superior to eigenvector centrality in detecting progressive supranuclear palsy with machine learning & multimodal MRI

Author

Danek, Adrian, Diehl-Schmid, Janine, Jahn, Holger, Kassubek, Jan, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Prudlo, Johannes, Schneider, Anja, Ludolph, Albert C., Fliesbach, Klaus, Anderl-Straub, Sarah, Brüggen, Katharina, Fischer, Marie, Förstl, Hans, Hammer, Anke, Homola, György, Just, Walter, Levin, Johannes, Marroquin, Nicolai, Marschhauser, Anke, Pino, Danielé, Nagl, Magdalena, Oberstein, Timo, Hüper, Lea, Polyakova, Maryna, Pellkofer, Hannah, Richter-Schmidinger, Tanja, Rossmeier, Carola, Kulko, Marianna, Semler, Elisa, Spottke, Annika, Steinacker, Petra, Thöne-Otto, Angelika, Uttner, Ingo, Zech, Heike, Albrecht, Franziska, Mueller, Karsten, Ballarini, Tommaso, Fassbender, Klaus, Wiltfang, Jens, Otto, Markus, Jech, Robert, and Schroeter, Mattias L.

Published
2024
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12. Interleukin-13 and its receptor are synaptic proteins involved in plasticity and neuroprotection

Author

Li, Shun, olde Heuvel, Florian, Rehman, Rida, Aousji, Oumayma, Froehlich, Albrecht, Li, Zhenghui, Jark, Rebecca, Zhang, Wanhong, Conquest, Alison, Woelfle, Sarah, Schoen, Michael, O´Meara, Caitlin C., Reinhardt, Richard Lee, Voehringer, David, Kassubek, Jan, Ludolph, Albert, Huber-Lang, Markus, Knöll, Bernd, Morganti-Kossmann, Maria Cristina, Brockmann, Marisa M., Boeckers, Tobias, and Roselli, Francesco

Published
2023
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13. Large diameter hemicraniectomy does not improve long-term outcome in malignant infarction

Author

Lehrieder, Dominik, Müller, Hans-Peter, Kassubek, Jan, Hecht, Nils, Thomalla, Götz, Michalski, Dominik, Gattringer, Thomas, Wartenberg, Katja E., Schultze-Amberger, Jörg, Huttner, Hagen, Kuramatsu, Joji B., Wunderlich, Silke, Steiner, Hans-Herbert, Weissenborn, Karin, Heck, Suzette, Günther, Albrecht, Schneider, Hauke, Poli, Sven, Dohmen, Christian, Woitzik, Johannes, Jüttler, Eric, and Neugebauer, Hermann

Published
2023
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19. Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design

Author

Akkaya, Federica, Babka, Christine, Bannert, Lisa, Bärsch-Michelmann, Anja, Böhm, Leonie, Brinkmann, Folke, Bullinger, Monika, Cario, Holger, de Greck, Moritz, Debatin, Klaus-Michael, Dillmann-Jehn, Katrin, Eymann, Jutta, Frisch, Julia, Glode, Anja, Gödecke, Vega, Grasemann, Corinna, Grauer, Eva, Haas, Astrid, Haisch, Lea, Isabell, Heinrich, Held, Melissa, Hennermann, Julia, Herpertz, Stephan, Herrmann-Werner, Anne, Hett, Julian, Heuschmann, Peter, Hilbig, Bettina, Holthöfer, Laura, Imhof, Christiane, Junne, Florian, Kassubek, Jan, Koschitzki, Kevin-Thomas, Krassort, Heike, Kropff, Birgit, Kuhn, Julia, Latzko, Philipp, Loew, Thomas, Ludolph, Albert C., Meyer, Torsten, Meyer dos Santos, Isabell, Mohnike, Klaus, Monninger, Martina, Mücke, Martin, Müller, Susanne, Musacchio, Thomas, Nießen, Margret, Nöhre, Mariel, Ott, Stephan, Petermann-Meyer, Andrea, Pfeifer-Duck, Christina, Piduhn, Lea-Sophie, Rampp, Carina, Rieß, Olaf, Schaubert, Kristina, Schmidt, Annika, Schneider, Simone, Schoels, Ludger, Schwalba, Martina, Selig, Udo, Sroka, Alexandra, Steinbüchel, Toni, Stösser, Sebastian, Suchant, Steffi, Ungethüm, Kathrin, Vogel, Matthias, Volk, Daniela, Vollmuth, Christoph, Volnov, Solange, Wagner, Thomas O.F., Walter, Sabrina, Warrings, Bodo, Zajt, Kamil, Zenker, Karola, Zhang, David, Zipfel, Stephan, Hebestreit, Helge, Lapstich, Anne-Marie, Brandstetter, Lilly, Krauth, Christian, Deckert, Jürgen, Haas, Kirsten, Pfister, Lisa, Witt, Stefanie, Schippers, Christopher, Dieris-Hirche, Jan, Maisch, Tim, Tüscher, Oliver, Bârlescu, Lavinia Aurelia, Berger, Alexandra, Berneburg, Mark, Britz, Vanessa, Deibele, Anna, Graeßner, Holm, Gündel, Harald, Heuft, Gereon, Lücke, Thomas, Mundlos, Christine, Quitmann, Julia Hannah, Rutsch, Frank, Schubert, Katharina, Schulz, Jörg B., Schweiger, Susann, Zeidler, Cornelia, Zeltner, Lena Margarete, de Zwaan, Martina, Bârlescu, Lavinia, Quitmann, Julia, Schulz, Jörg Bernhard, and Zeltner, Lena

Published
2023
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21. Multiclass prediction of different dementia syndromes based on multi-centric volumetric MRI imaging

Author

Lampe, Leonie, Huppertz, Hans-Jürgen, Anderl-Straub, Sarah, Albrecht, Franziska, Ballarini, Tommaso, Bisenius, Sandrine, Mueller, Karsten, Niehaus, Sebastian, Fassbender, Klaus, Fliessbach, Klaus, Jahn, Holger, Kornhuber, Johannes, Lauer, Martin, Prudlo, Johannes, Schneider, Anja, Synofzik, Matthis, Kassubek, Jan, Danek, Adrian, Villringer, Arno, Diehl-Schmid, Janine, Otto, Markus, and Schroeter, Matthias L.

Published
2023
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23. How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.

Author

Grimm, Max-Joseph, Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Ferguson, Leslie, Gelpi, Ellen, Giese, Armin, Grossman, Murray, Irwin, David J, Pantelyat, Alexander, Rajput, Alex, Roeber, Sigrun, van Swieten, John C, Troakes, Claire, Antonini, Angelo, Bhatia, Kailash P, Colosimo, Carlo, van Eimeren, Thilo, Kassubek, Jan, Levin, Johannes, Meissner, Wassilios G, Nilsson, Christer, Oertel, Wolfgang H, Piot, Ines, Poewe, Werner, Wenning, Gregor K, Boxer, Adam, Golbe, Lawrence I, Josephs, Keith A, Litvan, Irene, Morris, Huw R, Whitwell, Jennifer L, Compta, Yaroslau, Corvol, Jean-Christophe, Lang, Anthony E, Rowe, James B, Höglinger, Günter U, and Movement Disorder Society-endorsed PSP Study Group

Subjects
Movement Disorder Society-endorsed PSP Study Group, Brain, Humans, Parkinsonian Disorders, Supranuclear Palsy, Progressive, Ocular Motility Disorders, Sensation Disorders, Autopsy, Retrospective Studies, Cohort Studies, Adult, Aged, Aged, 80 and over, Middle Aged, Societies, Medical, Female, Male, Postural Balance, Cognitive Dysfunction, autopsy, diversity, phenotype, progressive supranuclear palsy, Brain Disorders, Pediatric, Neurosciences, Rare Diseases, Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, 4.2 Evaluation of markers and technologies, Neurology & Neurosurgery, Clinical Sciences, Human Movement and Sports Sciences
Abstract

BackgroundThe Movement Disorder Society criteria for progressive supranuclear palsy define diagnostic allocations, stratified by certainty levels and clinical predominance types. We aimed to study the frequency of ambiguous multiple allocations and to develop rules to eliminate them.MethodsWe retrospectively collected standardized clinical data by chart review in a multicenter cohort of autopsy-confirmed patients with progressive supranuclear palsy, to classify them by diagnostic certainty level and predominance type and to identify multiple allocations.ResultsComprehensive data were available from 195 patients. More than one diagnostic allocation occurred in 157 patients (80.5%). On average, 5.4 allocations were possible per patient. We developed four rules for Multiple Allocations eXtinction (MAX). They reduced the number of patients with multiple allocations to 22 (11.3%), and the allocations per patient to 1.1.ConclusionsThe proposed MAX rules help to standardize the application of the Movement Disorder Society criteria for progressive supranuclear palsy. © 2019 International Parkinson and Movement Disorder Society.

Published
2019

24. 10Kin1day: A Bottom-Up Neuroimaging Initiative

Author

van den Heuvel, Martijn P, Scholtens, Lianne H, van der Burgh, Hannelore K, Agosta, Federica, Alloza, Clara, Arango, Celso, Auyeung, Bonnie, Baron-Cohen, Simon, Basaia, Silvia, Benders, Manon JNL, Beyer, Frauke, Booij, Linda, Braun, Kees PJ, Filho, Geraldo Busatto, Cahn, Wiepke, Cannon, Dara M, Chaim-Avancini, Tiffany M, Chan, Sandra SM, Chen, Eric YH, Crespo-Facorro, Benedicto, Crone, Eveline A, Dannlowski, Udo, de Zwarte, Sonja MC, Dietsche, Bruno, Donohoe, Gary, Du Plessis, Stefan, Durston, Sarah, Díaz-Caneja, Covadonga M, Díaz-Zuluaga, Ana M, Emsley, Robin, Filippi, Massimo, Frodl, Thomas, Gorges, Martin, Graff, Beata, Grotegerd, Dominik, Gąsecki, Dariusz, Hall, Julie M, Holleran, Laurena, Holt, Rosemary, Hopman, Helene J, Jansen, Andreas, Janssen, Joost, Jodzio, Krzysztof, Jäncke, Lutz, Kaleda, Vasiliy G, Kassubek, Jan, Masouleh, Shahrzad Kharabian, Kircher, Tilo, Koevoets, Martijn GJC, Kostic, Vladimir S, Krug, Axel, Lawrie, Stephen M, Lebedeva, Irina S, Lee, Edwin HM, Lett, Tristram A, Lewis, Simon JG, Liem, Franziskus, Lombardo, Michael V, Lopez-Jaramillo, Carlos, Margulies, Daniel S, Markett, Sebastian, Marques, Paulo, Martínez-Zalacaín, Ignacio, McDonald, Colm, McIntosh, Andrew M, McPhilemy, Genevieve, Meinert, Susanne L, Menchón, José M, Montag, Christian, Moreira, Pedro S, Morgado, Pedro, Mothersill, David O, Mérillat, Susan, Müller, Hans-Peter, Nabulsi, Leila, Najt, Pablo, Narkiewicz, Krzysztof, Naumczyk, Patrycja, Oranje, Bob, de la Foz, Victor Ortiz-Garcia, Peper, Jiska S, Pineda, Julian A, Rasser, Paul E, Redlich, Ronny, Repple, Jonathan, Reuter, Martin, Rosa, Pedro GP, Ruigrok, Amber NV, Sabisz, Agnieszka, Schall, Ulrich, Seedat, Soraya, Serpa, Mauricio H, Skouras, Stavros, Soriano-Mas, Carles, Sousa, Nuno, Szurowska, Edyta, Tomyshev, Alexander S, Tordesillas-Gutierrez, Diana, Valk, Sofie L, and van den Berg, Leonard H

Subjects
Biological Psychology, Psychology, Biomedical Imaging, Brain Disorders, Neurosciences, Neurological, MRI, connectome analysis, diffusion weighted MRI, brain, network, Clinical Sciences, Clinical sciences, Biological psychology
Abstract

We organized 10Kin1day, a pop-up scientific event with the goal to bring together neuroimaging groups from around the world to jointly analyze 10,000+ existing MRI connectivity datasets during a 3-day workshop. In this report, we describe the motivation and principles of 10Kin1day, together with a public release of 8,000+ MRI connectome maps of the human brain.

Published
2019

27. Comparative analysis of machine learning algorithms for multi-syndrome classification of neurodegenerative syndromes

Author

Lampe, Leonie, Niehaus, Sebastian, Huppertz, Hans-Jürgen, Merola, Alberto, Reinelt, Janis, Mueller, Karsten, Anderl-Straub, Sarah, Fassbender, Klaus, Fliessbach, Klaus, Jahn, Holger, Kornhuber, Johannes, Lauer, Martin, Prudlo, Johannes, Schneider, Anja, Synofzik, Matthis, Danek, Adrian, Diehl-Schmid, Janine, Otto, Markus, Villringer, Arno, Egger, Karl, Hattingen, Elke, Hilker-Roggendorf, Rüdiger, Schnitzler, Alfons, Südmeyer, Martin, Oertel, Wolfgang, Kassubek, Jan, Höglinger, Günter, and Schroeter, Matthias L.

Published
2022
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33. Blood–CSF barrier integrity in amyotrophic lateral sclerosis

Author

Klose, Veronika, primary, Jesse, Sarah, additional, Lewerenz, Jan, additional, Kassubek, Jan, additional, Dorst, Johannes, additional, Rosenbohm, Angela, additional, Nagel, Gabriele, additional, Wernecke, Deborah, additional, Roselli, Francesco, additional, Tumani, Hayrettin, additional, and Ludolph, Albert C, additional

Published
2024
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35. A new CERAD total score with equally weighted z-scores and additional executive and non-amnestic „CERAD-Plus“ tests enhances cognitive diagnosis in patients with Parkinson's disease: Evidence from the LANDSCAPE study

Author

Lillig, Robert, Ophey, Anja, Schulz, Jörg B., Reetz, Kathrin, Wojtala, Jennifer, Storch, Alexander, Liepelt-Scarfone, Inga, Becker, Sara, Berg, Daniela, Balzer-Geldsetzer, Monika, Kassubek, Jan, Hilker-Roggendorf, Rüdiger, Witt, Karsten, Mollenhauer, Brit, Trenkwalder, Claudia, Roeske, Sandra, Wittchen, Hans-Ullrich, Riedel, Oliver, Dodel, Richard, and Kalbe, Elke

Published
2021
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38. Radiological biomarkers for diagnosis in PSP: Where are we and where do we need to be?

Author

Whitwell, Jennifer L, Höglinger, Günter U, Antonini, Angelo, Bordelon, Yvette, Boxer, Adam L, Colosimo, Carlo, van Eimeren, Thilo, Golbe, Lawrence I, Kassubek, Jan, Kurz, Carolin, Litvan, Irene, Pantelyat, Alexander, Rabinovici, Gil, Respondek, Gesine, Rominger, Axel, Rowe, James B, Stamelou, Maria, Josephs, Keith A, and Group, for the Movement Disorder Society‐endorsed PSP Study

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Bioengineering, Biomedical Imaging, Brain Disorders, Clinical Research, Neurodegenerative, Prevention, Rare Diseases, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Biomarkers, Humans, Neuroimaging, Supranuclear Palsy, Progressive, progressive supranuclear palsy, diagnosis, magnetic resonance imaging, positron emission tomography, single-photon emission computed tomography, Movement Disorder Society-endorsed PSP Study Group, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

PSP is a pathologically defined neurodegenerative tauopathy with a variety of clinical presentations including typical Richardson's syndrome and other variant PSP syndromes. A large body of neuroimaging research has been conducted over the past two decades, with many studies proposing different structural MRI and molecular PET/SPECT biomarkers for PSP. These include measures of brainstem, cortical and striatal atrophy, diffusion weighted and diffusion tensor imaging abnormalities, [18F] fluorodeoxyglucose PET hypometabolism, reductions in striatal dopamine imaging and, most recently, PET imaging with ligands that bind to tau. Our aim was to critically evaluate the degree to which structural and molecular neuroimaging metrics fulfill criteria for diagnostic biomarkers of PSP. We queried the PubMed, Cochrane, Medline, and PSYCInfo databases for original research articles published in English over the past 20 years using postmortem diagnosis or the NINDS-SPSP criteria as the diagnostic standard from 1996 to 2016. We define a five-level theoretical construct for the utility of neuroimaging biomarkers in PSP, with level 1 representing group-level findings, level 2 representing biomarkers with demonstrable individual-level diagnostic utility, level 3 representing biomarkers for early disease, level 4 representing surrogate biomarkers of PSP pathology, and level 5 representing definitive PSP biomarkers of PSP pathology. We discuss the degree to which each of the currently available biomarkers fit into this theoretical construct, consider the role of biomarkers in the diagnosis of Richardson's syndrome, variant PSP syndromes and autopsy confirmed PSP, and emphasize current shortfalls in the field. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Published
2017

39. Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Author

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, and Group, for the Movement Disorder Society‐Endorsed PSP Study

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Brain Disorders, Dementia, Alzheimer's Disease Related Dementias (ADRD), Pick's Disease, Rare Diseases, Acquired Cognitive Impairment, Neurodegenerative, Neurosciences, Aging, Parkinson's Disease, Frontotemporal Dementia (FTD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aetiology, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Neurological, Humans, Supranuclear Palsy, Progressive, Progressive supranuclear palsy, clinical features, diagnosis, clinico-pathological series, systematic review, Movement Disorder Society-Endorsed PSP Study Group, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundProgressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes.ObjectiveTo identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP.MethodsWe 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.ResultsOf 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.ConclusionsOur 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.

Published
2017

40. Longitudinal magnetic resonance imaging in progressive supranuclear palsy: A new combined score for clinical trials

Author

Höglinger, Günter U, Schöpe, Jakob, Stamelou, Maria, Kassubek, Jan, del Ser, Teodoro, Boxer, Adam L, Wagenpfeil, Stefan, Huppertz, Hans‐Jürgen, Investigators, for the AL‐108‐231, Investigators, the Tauros MRI, and Group, the Movement Disorder Society‐Endorsed PSP Study

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Clinical Research, Clinical Trials and Supportive Activities, Biomedical Imaging, Brain Disorders, Neurodegenerative, Neurological, Aged, Clinical Trials as Topic, Disease Progression, Female, Frontal Lobe, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Male, Mesencephalon, Middle Aged, Supranuclear Palsy, Progressive, Third Ventricle, progressive supranuclear palsy, magnetic resonance imaging, volumetry, power calculation, clinical trials, AL-108-231 Investigators, Tauros MRI Investigators, Movement Disorder Society-Endorsed PSP Study Group, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundTwo recent, randomized, placebo-controlled phase II/III trials (clinicaltrials.gov: NCT01110720, NCT01049399) of davunetide and tideglusib in progressive supranuclear palsy (PSP) generated prospective, 1-year longitudinal datasets of high-resolution T1-weighted three-dimensional MRI.ObjectiveThe objective of this study was to develop a quantitative MRI disease progression measurement for clinical trials.MethodsThe authors performed a fully automated quantitative MRI analysis employing atlas-based volumetry and provide sample size calculations based on data collected in 99 PSP patients assigned to placebo in these trials. Based on individual volumes of 44 brain compartments and structures at baseline and 52 weeks of follow-up, means and standard deviations of annualized percentage volume changes were used to estimate standardized effect sizes and the required sample sizes per group for future 2-armed, placebo-controlled therapeutic trials.ResultsThe highest standardized effect sizes were found for midbrain, frontal lobes, and the third ventricle. Using the annualized percentage volume change of these structures to detect a 50% change in the 1-year progression (80% power, significance level 5%) required lower numbers of patients per group (third ventricle, n = 32; midbrain, n = 37; frontal lobe, n = 43) than the best clinical scale (PSP rating scale total score, n = 58). A combination of volume changes in these 3 structures reduced the number of required patients to only 20 and correlated best with the progression in the clinical scales.ConclusionsWe propose the 1-year change in the volumes of third ventricle, midbrain, and frontal lobe as combined imaging read-out for clinical trials in PSP that require the least number of patients for detecting efficacy to reduce brain atrophy. © 2017 International Parkinson and Movement Disorder Society.

Published
2017

41. Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.

Author

Höglinger, Günter U, Respondek, Gesine, Stamelou, Maria, Kurz, Carolin, Josephs, Keith A, Lang, Anthony E, Mollenhauer, Brit, Müller, Ulrich, Nilsson, Christer, Whitwell, Jennifer L, Arzberger, Thomas, Englund, Elisabet, Gelpi, Ellen, Giese, Armin, Irwin, David J, Meissner, Wassilios G, Pantelyat, Alexander, Rajput, Alex, van Swieten, John C, Troakes, Claire, Antonini, Angelo, Bhatia, Kailash P, Bordelon, Yvette, Compta, Yaroslau, Corvol, Jean-Christophe, Colosimo, Carlo, Dickson, Dennis W, Dodel, Richard, Ferguson, Leslie, Grossman, Murray, Kassubek, Jan, Krismer, Florian, Levin, Johannes, Lorenzl, Stefan, Morris, Huw R, Nestor, Peter, Oertel, Wolfgang H, Poewe, Werner, Rabinovici, Gil, Rowe, James B, Schellenberg, Gerard D, Seppi, Klaus, van Eimeren, Thilo, Wenning, Gregor K, Boxer, Adam L, Golbe, Lawrence I, Litvan, Irene, and Movement Disorder Society-endorsed PSP Study Group

Subjects
Movement Disorder Society-endorsed PSP Study Group, Humans, Supranuclear Palsy, Progressive, Societies, Medical, Practice Guidelines as Topic, clinical diagnostic criteria, consensus-based, evidence-based, progressive supranuclear palsy, Brain Disorders, Neurosciences, Neurological, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

BackgroundPSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome.ObjectiveWe aimed to provide an evidence- and consensus-based revision of the clinical diagnostic criteria for PSP.MethodsWe searched the PubMed, Cochrane, Medline, and PSYCInfo databases for articles published in English since 1996, using postmortem diagnosis or highly specific clinical criteria as the diagnostic standard. Second, we generated retrospective standardized clinical data from patients with autopsy-confirmed PSP and control diseases. On this basis, diagnostic criteria were drafted, optimized in two modified Delphi evaluations, submitted to structured discussions with consensus procedures during a 2-day meeting, and refined in three further Delphi rounds.ResultsDefined clinical, imaging, laboratory, and genetic findings serve as mandatory basic features, mandatory exclusion criteria, or context-dependent exclusion criteria. We identified four functional domains (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction) as clinical predictors of PSP. Within each of these domains, we propose three clinical features that contribute different levels of diagnostic certainty. Specific combinations of these features define the diagnostic criteria, stratified by three degrees of diagnostic certainty (probable PSP, possible PSP, and suggestive of PSP). Clinical clues and imaging findings represent supportive features.ConclusionsHere, we present new criteria aimed to optimize early, sensitive, and specific clinical diagnosis of PSP on the basis of currently available evidence. © 2017 International Parkinson and Movement Disorder Society.

Published
2017

44. Primary lateral sclerosis: application and validation of the 2020 consensus diagnostic criteria in an expert opinion-based PLS cohort.

Author

Witzel, Simon, Micca, Veronika, Müller, Hans P., Huss, André, Bachhuber, Franziska, Dorst, Johannes, Lulé, Dorothée E., Tumani, Hayrettin, Kassubek, Jan, and Ludolph, Albert C.

Subjects
MOTOR neuron diseases, AMYOTROPHIC lateral sclerosis, VITAMIN B12 deficiency, TEXTURE analysis (Image processing), BLOOD protein electrophoresis, FRONTOTEMPORAL lobar degeneration, FAMILIAL spastic paraplegia
Published
2024
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45. Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration – A transdiagnostic study cross‐validating atrophy and fluid biomarkers.

Author

Hüper, Lea, Steinacker, Petra, Polyakova, Maryna, Mueller, Karsten, Godulla, Jannis, Herzig, Sabine, Danek, Adrian, Engel, Annerose, Diehl‐Schmid, Janine, Classen, Joseph, Fassbender, Klaus, Fliessbach, Klaus, Jahn, Holger, Kassubek, Jan, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Obrig, Hellmuth, Oeckl, Patrick, and Prudlo, Johannes

Abstract

INTRODUCTION: Frontotemporal lobar degeneration (FTLD) encompasses behavioral variant frontotemporal dementia (bvFTD), progressive supranuclear palsy, corticobasal syndrome/degeneration, and primary progressive aphasias (PPAs). We cross‐validated fluid biomarkers and neuroimaging. METHODS: Seven fluid biomarkers from cerebrospinal fluid and serum were related to atrophy in 428 participants including these FTLD subtypes, logopenic variant PPA (lvPPA), Alzheimer's disease (AD), and healthy subjects. Atrophy was assessed by structural magnetic resonance imaging and atlas‐based volumetry. RESULTS: FTLD subtypes, lvPPA, and AD showed specific profiles for neurofilament light chain, phosphorylated heavy chain, tau, phospho‐tau, amyloid beta1‐42 from serum/cerebrospinal fluid, and brain atrophy. Neurofilaments related to regional atrophy in bvFTD, whereas progranulin was associated with atrophy in semantic variant PPA. Ubiquitin showed no effects. DISCUSSION: Results specify biomarker and atrophy patterns in FTLD and AD supporting differential diagnosis. They identify neurofilaments and progranulin in interaction with structural imaging as promising candidates for monitoring disease progression and therapy. Highlights: Study cross‐validated neuroimaging and fluid biomarkers in dementia.Five kinds of frontotemporal lobar degeneration and two variants of Alzheimer's disease.Study identifies disease‐specific fluid biomarker and atrophy profiles.Fluid biomarkers and atrophy interact in a disease‐specific way.Neurofilaments and progranulin are proposed as biomarkers for diagnosis and therapy. [ABSTRACT FROM AUTHOR]

Published
2024
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