Issue 8/2023
Content (49 Articles)
Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
Martin Merkel, Daniela Berg, Norbert Brüggemann, Joseph Classen, Tina Mainka, Simone Zittel, Ania C. Muntau
Neuropathology of New-Onset Refractory Status Epilepticus (NORSE)
Aurélie Hanin, Jorge Cespedes, Anita Huttner, David Strelnikov, Margaret Gopaul, Marcello DiStasio, Annamaria Vezzani, Lawrence J. Hirsch, Eleonora Aronica
Autonomic nervous system disorders in multiple sclerosis
Effrosyni Koutsouraki, Koukoulidis Theodoros, Georgiadou Eleni, Kalampouka Marianna, Nikolaidou Areti, Koukoulidou Ariadni, Michmizos Dimitrios
Ordering genetic testing by neurologists: points to consider
Avi Fellner, Yael Goldberg, Lina Basel-Salmon
Recent advances in novel mutation genes of Parkinson's disease
Jie Yang, Xinyu Wu, Yuning Song
Duchenne muscular dystrophy: pathogenesis and promising therapies
Mengyuan Chang, Yong Cai, Zihui Gao, Xin Chen, Boya Liu, Cheng Zhang, Weiran Yu, Qianqian Cao, Yuntian Shen, Xinlei Yao, Xiaoyang Chen, Hualin Sun
Changes in motor activity level in individuals with frontotemporal dementia
C. R. A. Silveira, E. Mitchell, M. Restrepo-Martinez, K. Coleman, R. Ruiz-Garcia, E. Finger
Multiple sclerosis optic neuritis and trans-synaptic pathology on cortical thinning in people with multiple sclerosis
Ranjani Ganapathy Subramanian, Robert Zivadinov, Niels Bergsland, Michael G. Dwyer, Bianca Weinstock-Guttman, Dejan Jakimovski
Progressive supranuclear palsy’s economical burden: the use and costs of healthcare resources in a large health provider in Israel
Yael Barer, Raanan Cohen, Meital Grabarnik-John, Xiaolan Ye, Jorge Zamudio, Tanya Gurevich, Gabriel Chodick
Real-world use of natalizumab in Austria: data from the Austrian Multiple Sclerosis Treatment Registry (AMSTR)
Tobias Monschein, Sarinah Dekany, Tobias Zrzavy, Markus Ponleitner, Patrick Altmann, Gabriel Bsteh, Barbara Kornek, Paulus Rommer, Christian Enzinger, Franziska Di Pauli, Jörg Kraus, Thomas Berger, Fritz Leutmezer, Michael Guger
Correction: Real-world use of natalizumab in Austria: data from the Austrian Multiple Sclerosis Treatment Registry (AMSTR)
Tobias Monschein, Sarinah Dekany, Tobias Zrzavy, Markus Ponleitner, Patrick Altmann, Gabriel Bsteh, Barbara Kornek, Paulus Rommer, Christian Enzinger, Franziska Di Pauli, Jörg Kraus, Thomas Berger, Fritz Leutmezer, Michael Guger
The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study
Teije van Prooije, Sanne Ruigrok, Niels van den Berkmortel, Roderick P. P. W. M. Maas, Stan Wijn, Willeke M. C. van Roon-Mom, Bart van de Warrenburg, Janneke P. C. Grutters
Correction to: The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study
Teije van Prooije, Sanne Ruigrok, Niels van den Berkmortel, Roderick P. P. W. M. Maas, Stan R. W. Wijn, Willeke M. C. van Roon-Mom, Bart van de Warrenburg, Janneke P. C. Grutters
Diagnosing the benign paroxysmal positional vertigo via 1D and deep-learning composite model
Peixia Wu, Xuebing Liu, Qi Dai, Jiaoda Yu, Jieli Zhao, Fangzhou Yu, Yaoqian Liu, Yongbin Gao, Huawei Li, Wenyan Li
Data lake-driven analytics identify nocturnal non-dipping of heart rate as predictor of unfavorable stroke outcome at discharge
Alexander Nelde, Markus G. Klammer, Christian H. Nolte, Helena Stengl, Michael Krämer, Regina von Rennenberg, Andreas Meisel, Franziska Scheibe, Matthias Endres, Jan F. Scheitz, Christian Meisel
Retinal thickness as a biomarker of cognitive impairment in manifest Huntington’s disease
Ane Murueta-Goyena, Rocío Del Pino, Marian Acera, Sara Teijeira-Portas, David Romero, Unai Ayala, Tamara Fernández-Valle, Beatriz Tijero, Iñigo Gabilondo, Juan Carlos Gómez Esteban
Serum neurofilament light chain levels are associated with all-cause mortality in the general US population
Stefano Ciardullo, Emanuele Muraca, Eleonora Bianconi, Celeste Ronchetti, Rosa Cannistraci, Laura Rossi, Silvia Perra, Francesca Zerbini, Gianluca Perseghin
Unraveling the heterogeneous pathological substrates of relapse-onset multiple sclerosis: a multiparametric voxel-wise 3 T MRI study
Monica Margoni, Elisabetta Pagani, Paolo Preziosa, Mor Gueye, Matteo Azzimonti, Maria A. Rocca, Massimo Filippi
A multimodal marker for cognitive functioning in multiple sclerosis: the role of NfL, GFAP and conventional MRI in predicting cognitive functioning in a prospective clinical cohort
Maureen van Dam, Brigit A. de Jong, Eline A. J. Willemse, Ilse M. Nauta, Marijn Huiskamp, Martin Klein, Bastiaan Moraal, Sanne de Geus-Driessen, Jeroen J. G. Geurts, Bernard M. J. Uitdehaag, Charlotte E. Teunissen, Hanneke E. Hulst
Long-term efficacy and safety of ravulizumab in adults with anti-acetylcholine receptor antibody-positive generalized myasthenia gravis: results from the phase 3 CHAMPION MG open-label extension
Andreas Meisel, Djillali Annane, Tuan Vu, Renato Mantegazza, Masahisa Katsuno, Rasha Aguzzi, Glen Frick, Laura Gault, James F. Howard Jr.
Antiplatelet therapy may improve the prognosis of patients with moyamoya disease: a 12-year retrospective study
Yuting Luo, Zhixin Cao, Heng Ye, Shaoqing Wu, Xunsha Sun
Comparison of spinal magnetic resonance imaging and classical clinical factors in predicting motor capacity in amyotrophic lateral sclerosis
M. Khamaysa, M. Lefort, M. Pélégrini-Issac, A. Lackmy-Vallée, A. Preuilh, D. Devos, A.-S. Rolland, C. Desnuelle, M. Chupin, V. Marchand-Pauvert, G. Querin, Pierre-François Pradat, Veronique Danel-Brunaud, Caroline Moreau, Thierry Perez, Dumont, K. Dujardin, Arnaud Delval, Patrick Gelé, Marie Pleuvret, Valerie Santraine, Francine Niset, Julien Dumont, Victor Laugeais, Mathilde Bon, Thavarak Ouk, Camille Potey, Celine Leclercq, Elise Gers, Francois Salachas, Gaelle Bruneteau, Lucette Lacomblez, Julie Socha, Fanny Pineau, Timothee Lenglet, Patricia Doucelance Stéphanie Folhinha, Amandine Bordet, Hugo Royer, Nadia Osman, Sabah Ait Khelifa, Philippe Corcia, Stephane Beltran, Delphine Carmier, Laurent Barantin, Hélène Blasco, Salah Eddine Bakkouche, Mohad Mouzouri, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Nathalie Dimier, Anne-Laure Kaminsky, Isabelle Court-Fortune, Claire Boutet, Philippe Gonzalo, Vincent Visneux, Karine Ferraud, Georgette Berlier, Steeve Genestet, Christophe Gut-Gobert, Douraied Ben Salem, Pauline Nicolas, Sabine Larvor, Kevin Mouly, Liana Le Roux, Kevin Postec, Camille Bezeazux, Sylvain Rosec, Hélène Fortin-Prunier, Gaelle Novert, Elsa Menanteau, Kevin Postec, Magali Denizot, Emilien Bernard, Christophe Vial, Emmanuel Broussole, Juliette Svahn, Pierre Le Cam, Yves Berthezene, Philippe Combet, Sophie Jacqueline, Camille Neuillet, Adeline Mansuy, William Camu, Juntas-Morates, Pageot, Esselin, Champfleur, Roy-Bellina, Sylvain Lehmann, Sebastien Alphandry, Laura Labar, Leandra Baudesson, Sharam Attarian, Aude-Marie Grapperon, Jean Pouget, Annie Verschueren, Jaochim Bas, Armelle Finet-Monnier, Carole Belingher, Saran Diallo, Nacime Heddadji, Sebastien Alphandery, Leandra Baudesson, Pascale Reginensi, Claude Desnuelle, Marie-Hélene Soriani, S. Chanalet, Lydiane Mondot, Puma, Isabelle Pruvost, Carole Barré, Pascal Cintas, Marie-Christine Arne Bes, Blandine Acket, Jérémie Pariente, Isabelle Guilbaud, Fabrice Bonneville, E. Causse, Thierry Lagarde, Jeremy Geffroy, Magali Centelles, Véronique Hermet-Douard, Sophie Pittion-Vouyovitch, Maud Michon, Mylène Meyer, Sandra Lomazzi, Gabriella Hossu, Anne Chatelain, Philippe Couratier, Geraldine Lautrette, Francois Vincent, Larie-Therese Antonini, Florent Favard, M. L. Arie-Paule Boncoeur-Martel, Marianne Chouly, Jean-Claude Desport, Pierre Jesus, Phillipe Fayemendy, Clémence Labetoulle, Julie Catteau, Olivier Villeneuve, Selam Machat, Nathalie Guy, Pierre Clavelou, Anick Greil, M. Duclos, Betty Jean, Carine Chassain, Camille Tsoutsos, Claudine Speziale, Aurélie Cladiere, C. Bouteloup, N. Farigon, Sophia Sickout Argondo, Emilie Dumont, Sandrine Rouvet, Fausto Viader, Mathilde Lefilliatre, Philippe Mouton, A. Mondou, Stephane Allouche, Rachida Bari-Makouri, Ivan Kolev, Morgane Pihan, Helene Le Ho, Bertrand Catroux, Maela Castel, Marine Rigal, Catherine Bellot, Maelle Vomscheid, Marie-Cécile Hervé, Marie-Pierre Duban, Anne Vieillart, Julien Cassereau, Philippe Codron, Vivien Pautot, Nicole Meslier, Wojciech Trzepizur, J. Y. Tanguy, Philippe Allain, Cecile Thiery, Pascal Reynier, Tiphaine Barbe, Vialle-Soubranne, Nathalie Vienne, Audrey Olivier, Jeanne Miller, Marie Bost, Fournier, David Gay, Robin Bonicel, Fouzia El Mountassir, Clara Fischer, Jean-François Mangin, Marie Chupin, Yann Cointepas, Bertrand Accart, Patrick Gelé, Florine Fievet, Matthieu Chabel, Virginie Derenaucourt, Loïc Facon, Yanick Tchantchou Njosse, Michael Hisbergues, Deplanque, Christine Tabuenca, Marie-France Cazalère, Philippe Couratier, William Camu, Philippe Corcia, Claude Desnuelle, Maxime Caillier, Véronique Danel, Caroline Morerau, Victor Laugeais, Amelie Lecocq, Nathalie Potin, Marie Frisch, Marie Léon, David Devos, François Salachas, Pierre-Francois Pradat, Lucette Lacomblez, Jean-Philippe Camdessanché, Sharam Attarian, Timothée Langlet, Hélène Blasco, Luc Dupuis, Mathilde Bon, Emilien Bernard, Julien Cassereau, Marie-Hélène Soriani, Cedric Raoul, Sylvain Lehman, Sabine Turgeman, Valérie Goutines
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis
Eugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Már Tulinius, Maria Bernadete Dutra de Resende, Lauren P. Morgenroth, Heather Gordish-Dressman, Shelley Johnson, Allan Kristensen, Christian Werner, Panayiota Trifillis, Erik K. Henricson, Craig M. McDonald
Encephalitis in HIV-infected adults in the antiretroviral therapy era
Melissa Reimer-Mcatee, Denisse Ramirez, Casey Mcatee, Alejandro Granillo, Rodrigo Hasbun
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
Karina Paliotti, Christelle Dassi, Saoussen Berrahmoune, Marlin Liz Bejaran, Carlos Eduardo Valera Davila, Ariadna Borràs Martinez, Maria Carme Fons Estupiñà, Maria Margherita Mancardi, Antonella Riva, Thea Giacomini, Mariasevina Severino, Romina Romaniello, François Dubeau, Myriam Srour, Kenneth A. Myers
Muscle MRI patterns for limb girdle muscle dystrophies: systematic review
Issa Alawneh, Ana Stosic, Hernan Gonorazky
Decreased aperiodic neural activity in Parkinson’s disease and dementia with Lewy bodies
Yevgenia Rosenblum, Tamara Shiner, Noa Bregman, Nir Giladi, Inbal Maidan, Firas Fahoum, Anat Mirelman
Genetic characterization of primary lateral sclerosis
Eva M. J. de Boer, Balint S. de Vries, Maartje Pennings, Erik-Jan Kamsteeg, Jan H. Veldink, Leonard H. van den Berg, Michael A. van Es
Gadolinium contrast agents: dermal deposits and potential effects on epidermal small nerve fibers
Heidrun H. Krämer, Patrick Bücker, Astrid Jeibmann, Henning Richter, Angela Rosenbohm, Johanna Jeske, Panoraia Baka, Christian Geber, Matthias Wassenberg, Tanja Fangerau, Uwe Karst, Anne Schänzer, Christoph van Thriel
Self-reported life-space mobility in the first year after ischemic stroke: longitudinal findings from the MOBITEC-Stroke project
Timo Hinrichs, Roland Rössler, Denis Infanger, Robert Weibel, Janine Schär, Eva-Maria Peters, Erja Portegijs, Taina Rantanen, Arno Schmidt-Trucksäss, Stefan T. Engelter, Nils Peters
Cortical involvement in essential tremor with and without rest tremor: a machine learning study
Maria Giovanna Bianco, Andrea Quattrone, Alessia Sarica, Federica Aracri, Camilla Calomino, Maria Eugenia Caligiuri, Fabiana Novellino, Rita Nisticò, Jolanda Buonocore, Marianna Crasà, Maria Grazia Vaccaro, Aldo Quattrone
Identifying novel genes for amyotrophic lateral sclerosis by integrating human brain proteomes with genome-wide association data
Xiao-Jing Gu, Wei-Ming Su, Meng Dou, Zheng Jiang, Qing-Qing Duan, Han Wang, Yan-Ling Ren, Bei Cao, Yi Wang, Yong-Ping Chen
Microvascular involvement in migraine: an optical coherence tomography angiography study
Marina Romozzi, Giovanni Cuffaro, Eleonora Rollo, Roberta Mattei, Sofia Marcelli, Stanislao Rizzo, Paolo Calabresi, Serenella Servidei, Gustavo Savino, Catello Vollono
Memory-guided navigation in amyotrophic lateral sclerosis
Patrizia M. Maier, Deetje Iggena, Thomas Meyer, Carsten Finke, Christoph J. Ploner
Dynamic changes of the direction and angle of radiographic ocular lateral deviation in patients with lateropulsion after stroke onset
Masatoshi Kamada, Chiaki Yokota, Shunsuke Murata, Daishi Doda, Kunihiro Nishimura, Hiroaki Nishizono
Prediction of underlying atrial fibrillation in patients with a cryptogenic stroke: results from the NOR-FIB Study
B. Ratajczak-Tretel, A. Tancin Lambert, R. Al-Ani, K. Arntzen, G. K. Bakkejord, H. M. O. Bekkeseth, V. Bjerkeli, G. Eldøen, A. K. Gulsvik, B. Halvorsen, G. A. Høie, H. Ihle-Hansen, H. Ihle-Hansen, S. Ingebrigtsen, C. Kremer, S. B. Krogseth, C. Kruuse, M. Kurz, I. Nakstad, V. Novotny, H. Næss, R. Qazi, M. K. Rezaj, D. M. Rørholt, L. H. Steffensen, J. Sømark, H. Tobro, T. C. Truelsen, L. Wassvik, K. L. Ægidius, D. Atar, Anne Hege Aamodt
Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review
Meng-Wen Wang, Chu-Jun Wu, Zai-Qiang Zhang
Large diameter hemicraniectomy does not improve long-term outcome in malignant infarction
Dominik Lehrieder, Hans-Peter Müller, Jan Kassubek, Nils Hecht, Götz Thomalla, Dominik Michalski, Thomas Gattringer, Katja E. Wartenberg, Jörg Schultze-Amberger, Hagen Huttner, Joji B. Kuramatsu, Silke Wunderlich, Hans-Herbert Steiner, Karin Weissenborn, Suzette Heck, Albrecht Günther, Hauke Schneider, Sven Poli, Christian Dohmen, Johannes Woitzik, Eric Jüttler, Hermann Neugebauer
Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBS™) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients
Edoardo Nicolò Aiello, Federica Solca, Lucia Catherine Greco, Silvia Torre, Laura Carelli, Claudia Morelli, Alberto Doretti, Eleonora Colombo, Stefano Messina, Debora Pain, Alice Radici, Andrea Lizio, Jacopo Casiraghi, Federica Cerri, Susan Woolley, Jennifer Murphy, Lucio Tremolizzo, Ildebrando Appollonio, Federico Verde, Valeria Ada Sansone, Christian Lunetta, Vincenzo Silani, Nicola Ticozzi, Barbara Poletti
Understanding social media: how its popularity could be used to advance medical education in stroke care?
Gustavo Saposnik
Sequential and combined central retinal artery occlusion and anterior ischemic optic neuropathy in Fabry’s disease
André Sobral-Pinho, André Jorge, Pedro Fonseca, João Sargento-Freitas, João Durães, Ana Inês Martins, Maria Carmo Macário, João Lemos
Acetyl-DL-leucine in combination with memantine improves acquired pendular nystagmus caused by multiple sclerosis: a case report
O. Kremmyda, K. Feil, S. Bardins, M. Strupp
Vestibular schwannoma presenting with Valsalva maneuver-induced nystagmus
Ana Abičić, Ivan Adamec, Ivan Jovanović, Mario Habek
Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
Zofia Fleszar, Claudia Dufke, Marc Sturm, Rebecca Schüle, Ludger Schöls, Tobias B. Haack, Matthis Synofzik
Autoimmune encephalitis: recent clinical and biological advances
James A. Varley, Christine Strippel, Adam Handel, Sarosh R. Irani
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD): current understanding and challenges
Abdullah Al-Ani, John J. Chen, Fiona Costello
Path from discovery to recovery: therapeutic and diagnostic advances in Alzheimer's dementia
Aung M. Saw, James Hrastelj, Neil P. Robertson
John Charles Bucknill (1817–1897)
Andrew J. Larner, Christopher Gardner-Thorpe
Correction to: Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus
Amanda J. Male, Sarah L. Holmes, Michael G. Hanna, Robert D. S. Pitceathly, Gita M. Ramdharry, Diego Kaski