Cerebrospinal fluid findings in patients with psychotic symptoms—a retrospective analysis

Autor: Tim W. Rattay, Pascal Martin, Debora Vittore, Holger Hengel, Idil Cebi, Johannes Tünnerhoff, Maria-Ioanna Stefanou, Jonatan F. Hoffmann, Katrin von der Ehe, Johannes Klaus, Julia Vonderschmitt, Matthias L. Herrmann, Paula Bombach, Hazar Al Barazi, Lena Zeltner, Janina Richter, Klaus Hesse, Kathrin N. Eckstein, Stefan Klingberg, Dirk Wildgruber

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

Abstract In current international classification systems (ICD-10, DSM5), the diagnostic criteria for psychotic disorders (e.g. schizophrenia and schizoaffective disorder) are based on symptomatic descriptions since no unambiguous biomarkers are known

Externí odkaz: https://doaj.org/article/cf0456f8e57040f6b7125be98595951c

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Autor: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner

Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824

Susceptibility‐Weighted Imaging Reveals Subcortical Iron Deposition in PLA2G6 ‐associated Neurodegeneration: The ' Double Cortex Sign '

Autor: Benjamin Roeben, Lena Zeltner, Gisela E. Hagberg, Klaus Scheffler, Ludger Schöls, Benjamin Bender

Publikováno v: Movement disorders 38(5), 904-906 (2023). doi:10.1002/mds.29364
Movement Disorders

Magnetic resonance imaging (MRI) findings in PLA2G6-associated Neurodegeneration (PLAN), a “Neurodegeneration with Brain Iron Accumulation” (NBIA) disorder caused by autosomal-recessive mutations in the PLA2G6 gene,1 have been reported to show va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22f8c4d9a7e04ebfbb1262f61d0b5391
https://doi.org/10.1002/mds.29364

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Autor: Weisschuh, Milda Reith, Lena Zeltner, Karin Schäferhoff, Dennis Witt, Theresia Zuleger, Tobias B. Haack, Antje Bornemann, Michael Alber, Susanne Ruf, Ludger Schoels, Katarina Stingl, Nicole

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 4; Pages: 2271

Variants in MFSD8 can cause neuronal ceroid lipofuscinoses (NCLs) as well as nonsyndromic retinopathy. The mutation spectrum includes mainly missense and stop variants, but splice sites and frameshift variants have also been reported. To date, appare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::313c26bdac7f33514db54fb034e6da6f

Efficacy of glatiramer acetate in neuromyelitis optica spectrum disorder: a multicenter retrospective study

Autor: Ilya, Ayzenberg, Joanna, Schöllhammer, Robert, Hoepner, Kerstin, Hellwig, Marius, Ringelstein, Orhan, Aktas, Tania, Kümpfel, Markus, Krumbholz, Corinna, Trebst, Friedemann, Paul, Florence, Pache, Mark, Obermann, Lena, Zeltner, Matthias, Schwab, Achim, Berthele, Sven, Jarius, Ingo, Kleiter, U, Ziemann

Publikováno v: Journal of Neurology. 263:575-582

Glatiramer acetate (GA) is an approved therapy for relapsing-remitting multiple sclerosis, but its efficacy for the prevention of attacks in neuromyelitis optica spectrum disorder (NMOSD) remains unknown. We did a multicenter retrospective analysis o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::731a8f13965626d2298b0944088125f6
https://doi.org/10.1007/s00415-015-7991-1