دسترسی یکساله به بیش از ۵۰۰ ژورنال روز جهان موجود در سامانه
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Systematic review and evidence gap mapping of biomarkers associated with neurological manifestations in patients with COVID-19
K. Z. A. Domingues, A. F. Cobre, R. E. L. Lazo, L. S. Amaral, L. M. Ferreira, F. S. Tonin & R. Pontarolo
doi : 10.1007/s00415-023-12090-6
Volume 271, Issue 1
This study aimed to synthesize the existing evidence on biomarkers related to coronavirus disease 2019 (COVID-19) patients who presented neurological events.
SARS-CoV-2 vaccination and multiple sclerosis: a large multicentric study on relapse risk after the third booster dose
Massimiliano Di Filippo, Diana Ferraro, Paolo Ragonese, Luca Prosperini, Giorgia Teresa Maniscalco, Antonio Gallo, Paola Cavalla, Lorena Lorefice, Viviana Nociti, Elena Di Sabatino, Marinella Clerico, Clara Guaschino, Marta Radaelli, Roberta Fantozzi, Fabio Buttari, Alice Laroni, Alberto Gajofatto, Massimiliano Calabrese, Simona Malucchi, Damiano Paolicelli, Giovanna De Luca, Valentina Tomassini, Roberta Lanzillo, Marcello Moccia, Claudio Solaro, Eleonora Cocco, Claudio Gasperini, Carla Tortorella on behalf of the RIREMS (Rising Researchers in MS) group
doi : 10.1007/s00415-023-12034-0
COVID-19 vaccines have been recommended to people with multiple sclerosis (pwMS) and, to ensure durable immunity, a third booster dose has been administered in several countries. Data about potential risks associated with the third booster dose in pwMS, such as vaccine-triggered disease exacerbations, are still scarce.
The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease
Maudy T. M. Theunissen, Renee M. van den Elsen, Tiffany L. House, Brad Crittenden, Pieter A. van Doorn, Ans T. van der Ploeg, Michelle E. Kruijshaar & Nadine A. M. E. van der Beek
doi : 10.1007/s00415-023-11999-2
Patients with Pompe disease, a rare metabolic myopathy, were thought to be at increased risk of severe COVID-19 disease during the pandemic. In addition, the lockdown may have affected their regular treatment.
Persistent cognitive slowing in post-COVID patients: longitudinal study over 6Â months
Eva Maria Martin, Annie Srowig, Isabelle Utech, Simon Schrenk, Fabian Kattlun, Monique Radscheidt, Stefan Brodoehl, Peter Bublak, Matthias Schwab, Christian Geis, Bianca Besteher, Philipp A. Reuken, Andreas Stallmach & Kathrin Finke
doi : 10.1007/s00415-023-12069-3
Fatigue is a frequent and one of the most debilitating symptoms in post-COVID syndrome (PCS). Recently, we proposed that fatigue is caused by hypoactivity of the brain’s arousal network and reflected by a reduction of cognitive processing speed. However, it is unclear whether cognitive slowing is revealed by standard neuropsychological tests, represents a selective deficit, and how it develops over time.
Cerebrospinal fluid findings in patients with neurological manifestations in post-COVID-19 syndrome
Fabian Boesl, Yasemin Goereci, Ameli Gerhard, Benno Bremer, Vanessa Raeder, Finja Schweitzer, Uta Hoppmann, Janina Behrens, Judith Bellmann-Strobl, Friedemann Paul, Brigitte Wildemann, Sven Jarius, Harald Prüss, Heinrich J. Audebert, Clemens Warnke & Christiana Franke
doi : 10.1007/s00415-023-12092-4
Information on cerebrospinal fluid (CSF) findings in patients with neurological manifestations in post-COVID-19 syndrome is scarce.
Susac syndrome in a patient with migraine shortly after COVID-19 booster vaccination: more than a temporal relation?
Stergios Tsitos, Adrian Danek & Andreas Straube
Subacute transverse myelitis of possible vasculitic origin after SARS-CoV2 and Varicella-Zoster virus infections: a case report
Francesco Favruzzo, Anna Palmieri, Federico Giopato, Davide Cardellini, Alessandra Vidali & Domenico Marco Bonifati
Long-term neurological symptoms after acute COVID-19 illness requiring hospitalization in adult patients: insights from the ISARIC-COVID-19 follow-up study
Denise Battaglini, Nicole M. White, Lavienraj Premraj, Barbara Wanjiru Citarella, Laura Merson, Chiara Robba, David Thomson, Sung-Min Cho & ISARIC Clinical Characterization Group
Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach
Yara Abukhaled, Kenana Hatab, Mohammad Awadhalla & Hamdan Hamdan
doi : 10.1007/s00415-023-11890-0
The most common genetic cause of intellectual disability is Down syndrome (DS), trisomy 21. It commonly results from three copies of human chromosome 21 (HC21). There are no mutations or deletions involved in DS. Instead, the phenotype is caused by altered transcription of the genes on HC21.
Multiple sclerosis: time for early treatment with high-efficacy drugs
Krzysztof Selmaj, Bruce A. C. Cree, Michael Barnett, Alan Thompson & Hans-Peter Hartung
doi : 10.1007/s00415-023-11969-8
This review addresses current changes in the approach to treating patients with multiple sclerosis (MS). The widely practiced approach of utilizing agents with lower treatment efficacy (LETA) at onset with subsequent escalation has been challenged by new data suggesting that MS patients derive greater benefit when therapy is initiated with high-efficacy treatment agents (HETA).
The elusive nature of the oligoclonal bands in multiple sclerosis
Peter G. E. Kennedy, Woro George & Xiaoli Yu
doi : 10.1007/s00415-023-12081-7
Intrathecal immunoglobulin G (IgG) and oligoclonal bands (OCBs) detected in both the brain and cerebrospinal fluid (CSF) are seminal features of multiple sclerosis (MS). The presence of OCBs correlates with elevated disease burden and severity and supports the diagnosis of MS. Despite numerous investigations into the potential viral and autoantigen targets, the precise antigenic specificity of OCBs has remained elusive.
Real-life evaluation of the 2017 McDonald criteria for relapsing–remitting multiple sclerosis after a clinically isolated syndrome confirms a gain in time-to-diagnosis
Mickaël Ferrand, Jonathan Epstein, Marc Soudant, Francis Guillemin, Sophie Pittion-Vouyovitch, Marc Debouverie & Guillaume Mathey
doi : 10.1007/s00415-023-11905-w
Previous cohort studies evaluating the performances of the McDonald criteria suffered from bias regarding real-life conditions. We aimed to evaluate the probability of diagnosing relapsing–remitting multiple sclerosis (MS) at several timepoints from the first medical evaluation and the gain in time-to-diagnosis with the 2017 McDonald criteria compared with the 2001, 2005 and 2010 versions in real life.
Hepatitis B reactivation is a rare event among patients with resolved infection undergoing anti-CD20 antibodies in monotherapy without antiviral prophylaxis: results from the HEBEM study
Blanca Marzo, Angela Vidal-Jordana, JoaquÃn Castilló, Miguel-Angel Robles-Sanchez, Susana Otero-Romero, Mar Tintore, Xavier Montalban, Maria Buti & Mar Riveiro-Barciela
doi : 10.1007/s00415-023-11973-y
Prospective data on the risk of hepatitis B reactivation (HBVr) among patients with resolved HBV infection undergoing anti-CD20 antibodies monotherapy is scarce. We aimed to assess the risk of HBVr in patients with resolved HBV infection treated with rituximab or ocrelizumab in monotherapy for multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD) without antiviral prophylaxis.
Update on the diagnosis and treatment of neuromyelitis optica spectrum disorders (NMOSD) – revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part II: Attack therapy and long-term management
Tania Kümpfel, Katrin Giglhuber, Orhan Aktas, Ilya Ayzenberg, Judith Bellmann-Strobl, Vivien Häußler, Joachim Havla, Kerstin Hellwig, Martin W. Hümmert, Sven Jarius, Ingo Kleiter, Luisa Klotz, Markus Krumbholz, Friedemann Paul, Marius Ringelstein, Klemens Ruprecht, Makbule Senel, Jan-Patrick Stellmann, Florian Then Bergh, Corinna Trebst, Hayrettin Tumani, Clemens Warnke, Brigitte Wildemann, Achim Berthele & The Neuromyelitis Optica Study Group (NEMOS)
doi : 10.1007/s00415-023-11910-z
This manuscript presents practical recommendations for managing acute attacks and implementing preventive immunotherapies for neuromyelitis optica spectrum disorders (NMOSD), a rare autoimmune disease that causes severe inflammation in the central nervous system (CNS), primarily affecting the optic nerves, spinal cord, and brainstem.
IQ changes after pediatric epilepsy surgery: a systematic review and meta-analysis
Tristan Schmidlechner, Malin Zaddach, Florian Heinen, Sonia Cornell, Georgia Ramantani, Jan Rémi, Christian Vollmar, Mathias Kunz & Ingo Borggraefe
doi : 10.1007/s00415-023-12002-8
This systematic review aimed to assess the intellectual outcome of children who underwent surgery for epilepsy.
Informed consent practices for acute stroke therapy: principles, challenges and emerging opportunities
Amir Mbonde, Michael J. Young, Adam A. Dmytriw, Quentin J. Moyer, Joshua A. Hirsch, Thabele M. Leslie-Mazwi, Natalia S. Rost, Aman B. Patel & Robert W. Regenhardt
doi : 10.1007/s00415-023-12028-y
Informed consent (IC) plays a crucial yet underexplored role in acute stroke treatment, particularly in the context of intravenous thrombolysis (IVT) and endovascular thrombectomy (EVT). This narrative review examines data on current IC practices in acute ischemic stroke management, specifically for patients treated with IVT or EVT, with the aim of identifying areas for improvement and strategies to enhance the IC process.
High intake of ultra-processed food is associated with dementia in adults: a systematic review and meta-analysis of observational studies
Alex E. Henney, Conor S. Gillespie, Uazman Alam, Theresa J. Hydes, Clare E. Mackay & Daniel J. Cuthbertson
doi : 10.1007/s00415-023-12033-1
Poor cardiometabolic health is associated with dementia. Considering previous meta-analyses have confirmed associations between ultra-processed foods (UPFs) and cardiometabolic disease, we were interested in the contribution of UPF consumption to the risk of developing dementia.
eHealth tools to assess the neurological function for research, in absence of the neurologist – a systematic review, part I (software)
Vasco Ribeiro Ferreira, Esther Metting, Joshua Schauble, Hamed Seddighi, Lise Beumeler & Valentina Gallo
doi : 10.1007/s00415-023-12012-6
Neurological disorders remain a worldwide concern due to their increasing prevalence and mortality, combined with the lack of available treatment, in most cases. Exploring protective and risk factors associated with the development of neurological disorders will allow for improving prevention strategies. However, ascertaining neurological outcomes in population-based studies can be both complex and costly. The application of eHealth tools in research may contribute to lowering the costs and increase accessibility. The aim of this systematic review is to map existing eHealth tools assessing neurological signs and/or symptoms for epidemiological research.
Concurrence of seizures and peri-ictal delirium in the critically ill - its frequency, associated characteristics, and outcomes
Anja I. Frei, Anna S. Wagner, Sira M. Baumann, Pascale Grzonka, Sebastian Berger, Sabina Hunziker, Stephan Rüegg, Stephan Marsch & Raoul Sutter
doi : 10.1007/s00415-023-11944-3
To assess the frequency, clinical features, and outcome of peri-ictal delirium in adult patients experiencing seizures during intensive care.
Modifiable risk factors for multiple sclerosis have consistent directions of effect across diverse ethnic backgrounds: a nested case–control study in an English population-based cohort
Benjamin M. Jacobs, Pooja Tank, Jonathan P. Bestwick, Alastair J. Noyce, Charles R. Marshall, Rohini Mathur, Gavin Giovannoni & Ruth Dobson
doi : 10.1007/s00415-023-11971-0
Multiple sclerosis is a leading cause of non-traumatic neurological disability among young adults worldwide. Prior studies have identified modifiable risk factors for multiple sclerosis in cohorts of White ethnicity, such as infectious mononucleosis, smoking, and obesity during adolescence/early adulthood. It is unknown whether modifiable exposures for multiple sclerosis have a consistent impact on risk across ethnic groups.
Efgartigimod beyond myasthenia gravis: the role of FcRn-targeting therapies in stiff-person syndrome
Vincenzo Di Stefano, Paolo Alonge, Nicasio Rini, Massimiliano Militello, Antonino Lupica, Angelo Torrente & Filippo Brighina
doi : 10.1007/s00415-023-11970-1
Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder characterized by high titers of antibodies against glutamic acid decarboxylase (GAD) causing impaired GABAergic inhibitory neurotransmission.
Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
Astrid Van den Broecke 1 · Alexander Decruyenaere 2 · Nika Schuermans3,4 · Hannah Verdin3,4 · Jody Ghijsels3,4 · Anne Sieben 5 · Bart Dermaut3,4 · Dimitri Hemelsoet
doi : 10.1007/s00415-023-11968-9
Inherited prion diseases caused by two- to twelve-octapeptide repeat insertions (OPRIs) in the prion protein gene (PRNP) show significant clinical heterogeneity. This study describes a family with two new cases with a 4-OPRI mutation and two asymptomatic mutation carriers.
Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Synnøve Jensen, Karin Abeler, Oddgeir Friborg, Assami Rosner, Caroline Olsborg, Svein Ivar Mellgren, Kai Ivar Müller, Andreas Dybesland Rosenberger, Monica L. Vold & Kjell Arne Arntzen
doi : 10.1007/s00415-023-11978-7
Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts on health, functioning, and well-being. LGMDR9 may potentially affect sleep by physical or emotional symptoms, myalgia, or sleep-disordered breathing (SDB) through cardiorespiratory involvement.
The relationship between disease-specific psychosocial stressors and depressive symptoms in Huntington’s disease
Hiba Bilal, Ian H. Harding & Julie C. Stout
doi : 10.1007/s00415-023-11982-x
Huntington’s disease (HD) is an inherited neurodegenerative disease involving motor abnormalities, cognitive decline, and psychological difficulties. Depression is among the most common psychological difficulties in HD. People with HD encounter numerous stressors related to their diagnosis and the impact of HD on their daily lives.
MRI abnormalities in Creutzfeldt–Jakob disease and other rapidly progressive dementia
Renzo Manara, Federica Fragiacomo, Anna Ladogana, Luana Vaianella, Giulia Camporese, Giovanni Zorzi, Sabrina Vicinanza, Gianluigi Zanusso, Maurizio Pocchiari & Annachiara Cagnin
doi : 10.1007/s00415-023-11962-1
To investigate brain MRI abnormalities in a cohort of patients with rapidly progressive dementia (RPD) with and without a diagnosis of Creutzfeldt–Jakob disease (CJD).
Characterizing cognitive function in patients with autoimmune encephalitis: an Australian prospective study
Sarah P. Griffith, Robb Wesselingh, Nabil Seery, Tiffany Rushen, Chris Kyndt, Brian Long, Udaya Seneviratne, Katherine Buzzard, Helmut Butzkueven, Terence J. O’Brien, Rubina Alpitsis, Charles B. Malpas, Mastura Monif on behalf of Australian Autoimmune Encephalitis Consortium
doi : 10.1007/s00415-023-11967-w
This study uses the Wechsler intelligence and memory scales to characterize the cognitive function of patients with autoimmune encephalitis (AE) in the chronic stage of the disease. AE is a group of neuroinflammatory disorders, and cognitive impairment is a significant source of chronic morbidity in these patients.
Impairment of oculomotor functions in patients with early to advanced amyotrophic lateral sclerosis
Elisa Aust, Sven-Thomas Graupner, René Günther, Katharina Linse, Markus Joos, Julian Grosskreutz, Johannes Prudlo, Sebastian Pannasch & Andreas Hermann
doi : 10.1007/s00415-023-11957-y
Amyotrophic lateral sclerosis (ALS) can result into an incomplete locked in state (iLIS), in which communication depends on eye tracking computer devices. Oculomotor function impairments in ALS have been reported, but there is little research, particularly with respect to patients in iLIS. In the present study, we compared reflexive and executive oculomotor function by means of an eye tracking test battery between three groups: advanced ALS patients in iLIS (n = 22), patients in early to middle ALS stages (n = 44) and healthy subjects (n = 32). Patients with ALS showed significant deteriorations in oculomotor functions, with stronger impairments in iLIS.
Intravenous or subcutaneous natalizumab in patients with relapsing–remitting multiple sclerosis: investigation on efficiency and savings—the EASIER study
Massimo Filippi, Luigi Grimaldi, Antonella Conte, Rocco Totaro, Maria Rosaria Valente, Simona Malucchi, Franco Granella, Cinzia Cordioli, Vincenzo Brescia Morra, Chiara Zanetta, Daria Perini, Laura Santoni on behalf of the EASIER Study Working Group
doi : 10.1007/s00415-023-11955-0
EASIER is a multicenter, observational, cross-sectional study investigating the consumption of healthcare resources, including healthcare professional (HCP) active working time, the costs associated with the current natalizumab intravenous (IV) administration, and the potential impact of the adoption of subcutaneous (SC) route.
Multimodal MRI study on the relation between WM integrity and connected GM atrophy and its effect on disability in early multiple sclerosis
Merlin M. Weeda, D. R. van Nederpelt, J. W. R. Twisk, I. Brouwer, J. P. A. Kuijer, M. van Dam, H. E. Hulst, J. Killestein, F. Barkhof, H. Vrenken & P. J. W. Pouwels
doi : 10.1007/s00415-023-11937-2
Multiple sclerosis (MS) is characterized by pathology in white matter (WM) and atrophy of grey matter (GM), but it remains unclear how these processes are related, or how they influence clinical progression.
Long-term outcome of natalizumab-associated progressive multifocal leukoencephalopathy in Austria: a nationwide retrospective study
Tobias Moser, Georg Zimmermann, Anna Baumgartner, Thomas Berger, Gabriel Bsteh, Franziska Di Pauli, Christian Enzinger, Elisabeth Fertl, Thomas Heller, Stefan Koppi, Paulus S. Rommer, Georg Safoschnik, Thomas Seifert-Held, Robert Stepansky & Johann Sellner
doi : 10.1007/s00415-023-11924-7
The use of natalizumab (NAT) in multiple sclerosis (MS) may be complicated by progressive multifocal leukoencephalopathy (PML), a rare and life-threatening opportunistic brain infection. We aimed to analyze the course of MS after PML recovery together with the long-term outcome of NAT-associated PML (NAT-PML) in Austria.
Neurological manifestation of HEV infection: still a rare disease entity?
Maximilian Wiesenfarth, Thomas Stamminger, Eugen Zizer, Hayrettin Tumani & Albert C. Ludolph
doi : 10.1007/s00415-023-11985-8
Hepatitis E virus (HEV) infection is the most common form of viral hepatitis and is reported to cause neurological manifestation in up to 30% of diagnosed infections. We evaluated the medical reports of all patients (n = 29,994) who were discharged from the Department of Neurology of Ulm University between 01.01.2015 and 30.09.2022 to detect neurological manifestations of HEV.
International survey on the implementation of the European and American guidelines on disorders of consciousness
Michele Farisco, Rita Formisano, Olivia Gosseries, Yoko Kato, Shigeki Koboyashi, Steven Laureys, Nicolas Lejeune, Charlotte Martial, Amal Matar, Ann-Marie Morrisey, Caroline Schnakers, Maidinamu Yakufujiang, Tomohiro Yamaki, Vigneswaran Veeramuthu, Matteo Zandalasini, Nathan Zasler, Alfonso Magliacano, Anna Estraneo on behalf of IBIA Special Interest Group on DoCs
doi : 10.1007/s00415-023-11956-z
Diagnostic, prognostic, and therapeutic procedures for patients with prolonged disorders of consciousness (pDoCs) vary significantly across countries and clinical settings, likely due to organizational factors (e.g., research vs. non-academic hospitals), expertise and availability of resources (e.g., financial and human).
Correction to: International survey on the implementation of the European and American guidelines on disorders of consciousness
Michele Farisco, Rita Formisano, Olivia Gosseries, Yoko Kato, Shigeki Koboyashi, Steven Laureys, Nicolas Lejeune, Charlotte Martial, Amal Matar, Ann-Marie Morrisey, Caroline Schnakers, Maidinamu Yakufujiang, Tomohiro Yamaki, Vigneswaran Veeramuthu, Matteo Zandalasini, Nathan Zasler, Alfonso Magliacano, Anna Estraneo on behalf of IBIA Special Interest Group on DoCs
Face to Face: deciphering facial involvement in inclusion body myositis
Etienne Fortanier, Emilien Delmont, Ludivine Kouton, Giovanni Corazza, Aude-Marie Grapperon, Annie Verschueren, Shahram Attarian & Emmanuelle Salort-Campana
doi : 10.1007/s00415-023-11986-7
The objective of this study is to evaluate the frequency and characteristics of facial involvement in inclusion body myositis (IBM) patients and to compare it to the one previously described in facioscapulohumeral dystrophy (FSHD) patients.
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum
Yujiro Higuchi, Masahiro Ando, Fumikazu Kojima, Junhui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Yu Hiramatsu, Satoshi Nozuma, Shinobu Fukumura, Hiroyuki Yahikozawa, Erika Abe, Itaru Toyoshima, Masashiro Sugawara, Yuji Okamoto, Eiji Matsuura & Hiroshi Takashima
doi : 10.1007/s00415-023-11998-3
Biallelic mutations in the COA7 gene have been associated with spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3), and a notable clinical diversity has been observed. We aim to identify the genetic and phenotypic spectrum of COA7-related disorders.
Language deficits in primary lateral sclerosis: cortical atrophy, white matter degeneration and functional disconnection between cerebral regions
Ee Ling Tan, Marlene Tahedl, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Kai Ming Chang, Eoin Finegan & Peter Bede
doi : 10.1007/s00415-023-11994-7
Primary lateral sclerosis (PLS) is traditionally regarded as a pure upper motor neuron disorder, but recent cases series have highlighted cognitive deficits in executive and language domains.
Pathological findings in autoimmune encephalitis autopsy specimens from cases of suspected prion disease
Christina Kerner, Keisi Kotobelli, Brian S. Appleby, Mark L. Cohen & Hesham Abboud
doi : 10.1007/s00415-023-12003-7
The underlying pathology of autoimmune encephalitis is not well characterized due to the limited opportunities to study tissue specimens. Autopsy specimens available at prion surveillance centers from patients with suspected Creutzfeldt-Jakob disease offer a unique opportunity to study the pathology of autoimmune encephalitis. Our objective was to describe pathological findings of autoimmune encephalitis specimens submitted to the U.S. National Prion Disease Pathology Surveillance Center.
Correlation of glymphatic system abnormalities with Parkinson’s disease progression: a clinical study based on non-invasive fMRI
Jing-Cai Meng, Ming-Qiang Shen, Yan-Li Lu, Hong-Xuan Feng, Xin-Yi Chen, Da-Qiang Xu, Guan-Hui Wu, Qing-Zhang Cheng, Lin-Hui Wang & Qian Gui
doi : 10.1007/s00415-023-12004-6
The glymphatic system is reportedly involved in Parkinson’s disease (PD). Based on previous studies, we aimed to confirm the correlation between the glymphatic system and PD progression by combining two imaging parameters, diffusion tensor image analysis along the perivascular space (DTI-ALPS), and enlarged perivascular spaces (EPVS).
Examining the environmental risk factors of progressive-onset and relapsing-onset multiple sclerosis: recruitment challenges, potential bias, and statistical strategies
Ying Li, Alice Saul, Bruce Taylor, Anne-Louise Ponsonby, Steve Simpson-Yap, Leigh Blizzard, Simon Broadley, Jeannette Lechner-Scott on behalf of Ausimmune/AusLong Investigators Group, Rana Karabudak, Francesco Patti, Sara Eichau, Marco Onofrj, Serkan Ozakbas, Dana Horakova, Eva Kubala Havrdova, Francois Grand’Maison, Raed Alroughani, Oliver Gerlach, Maria Pia Amato, Ayse Altintas, Marc Girard, Pierre Duquette, Yolanda Blanco, Cristina Ramo-Tello, Guy Laureys, Tomas Kalincik, Samia J. Khoury, Vahid Shaygannejad, Masoud Etemadifar, Bhim Singhal, Saloua Mrabet, Matteo Foschi, Mario Habek, Nevin John, Stella Hughes, Pamela McCombe, Radek Ampapa, Anneke van der Walt, Helmut Butzkueven, Koen de Gans, Chris McGuigan, Celia Oreja-Guevara, Maria Jose Sa, Thor Petersen, Talal Al-Harbi, Angel Perez Sempere, Bart Van Wijmeersch, Nikolaos Grigoriadis, Julie Prevost, Orla Gray, Tamara Castillo-Triviño, Richard Macdonell, Alessandra Lugaresi, Seyed Aidin Sajedi on behalf of MSBase & Ingrid van der Mei
doi : 10.1007/s00415-023-11980-z
It is unknown whether the currently known risk factors of multiple sclerosis reflect the etiology of progressive-onset multiple sclerosis (POMS) as observational studies rarely included analysis by type of onset.
Alemtuzumab induces severe orbitopathy in relapsing–remitting multiple sclerosis
Pablo RodrÃguez de Vera Gómez, Mariola Méndez Muros, Alberto Torres Cuadro, Francisco Javier Toyos Sáenz de Miera, RocÃo López Ruiz, Raquel Guerrero Vázquez, Juan Jesús GarcÃa González, Antonio Manuel Garrido Hermosilla & Tomás MartÃn Hernández
doi : 10.1007/s00415-023-11995-6
Treatment with Alemtuzumab (ALZ) in patients with Relapsing–Remitting Multiple Sclerosis (RRMS) is associated with the development of ALZ-induced Graves' disease (GD-ALZ). Some cases may develop associated Graves´ Orbitopathy (GO-ALZ), with possible visual compromise.
Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot–Marie–Tooth Disease
Zhiqiang Lin, Lei Liu, Xiaobo Li, Shunxiang Huang, Huadong Zhao, Sen Zeng, Honglan Yang, Yongzhi Xie & Ruxu Zhang
doi : 10.1007/s00415-023-11991-w
To identify genetic causes in 40 whole exome sequencing (WES)-negative Charcot–Marie–Tooth (CMT) families and provide a summary of the clinical and genetic features of the diagnosed patients.
Neuroimaging determinants of cognitive impairment in the memory clinic: how important is the vascular burden?
Daniela Andriuta, Emmanuel Wiener, Alexandre Perron, Elisa Ouin, Ines Masmoudi, William Thibaut, Jeanne Martin, Martine Roussel, Jean-Marc Constans, Ardalan Aarabi & Olivier Godefroy
doi : 10.1007/s00415-023-12009-1
While neurodegenerative and vascular neurocognitive disorder (NCD) often co-occur, the contribution of vascular lesions, especially stroke lesions identified on MRI, to global cognition in a real-life memory clinic population remains unclear.
Prevalence, demographic and spatial distribution of treated epilepsy in France in 2020: a study based on the French national health data system
Joël Coste, Laurence Mandereau-Bruno, Laure Carcaillon-Bentata, Yann Mikaeloff & Viviane Bouilleret
doi : 10.1007/s00415-023-11953-2
Although still incomplete, the epidemiology of epilepsy shows substantial variations in the burden of the condition according to demographic, social and territorial characteristics. This study aimed to estimate the prevalence of treated epilepsy and to investigate its demographic and spatial distribution in 2020 in France, a country where the nationwide epidemiological situation of the condition remains largely unknown.
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Sorina Gorcenco, Efthymia Kafantari, Joel Wallenius, Christin Karremo, Erik Alinder, Sigurd Dobloug, Maria Landqvist Waldö, Elisabet Englund, Hans Ehrencrona, Klas Wictorin, Kristina Karrman & Andreas Puschmann
doi : 10.1007/s00415-023-11990-x
Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become a great help in clinical diagnostics, but it may remain challenging to determine if a genetic variant is the cause of the patient’s disease.
Factors impacting trial participation in people with motor neuron disease
Emily Beswick, Micheala Johnson, Judith Newton, Rachel Dakin, Amy Stenson, Sharon Abrahams, Alan Carson, Siddharthan Chandran & Suvankar Pal
doi : 10.1007/s00415-023-12010-8
Motor neuron disease (MND) is a rapidly progressive neurodegenerative disorder with limited treatment options. Historically, neurological trials have been plagued by suboptimal recruitment and high rates of attrition.
A retrospective study of autoimmune cerebellar ataxia over a 20-year period in a single institution
Akihiko Kudo, Hiroaki Yaguchi, Keiko Tanaka, Akio Kimura & Ichiro Yabe
doi : 10.1007/s00415-023-11946-1
It is important to differentiate autoimmune cerebellar ataxia (ACA) from neurodegenerative CA, but this is sometimes difficult. We performed a retrospective study in a single institution in Japan over a 20-year period to reveal the clinical features of ACA.
Weaning and extubation failure in myasthenic crisis: a multicenter analysis
Bernhard Neumann, Klemens Angstwurm, Christian Dohmen, Philipp Mergenthaler, Siegfried Kohler, Silvia Schönenberger, De-Hyung Lee, Stefan T. Gerner, Hagen B. Huttner, Andrea Thieme, Andreas Steinbrecher, Juliane Dunkel, Christian Roth, Hauke Schneider, Heinz Reichmann, Hannah Fuhrer, Ingo Kleiter, Christiane Schneider-Gold, Anke Alberty, Jan Zinke, Michael Schroeter, Ralf Linker, Andreas Meisel, Julian Bösel & Henning R. Stetefeld On behalf of the Initiative of German NeuroIntensive Trial Engagement (IGNITE)
doi : 10.1007/s00415-023-12016-2
Myasthenic crisis (MC) requiring mechanical ventilation is a serious complication of myasthenia gravis (MG). Here we analyze the frequency and risk factors of weaning- and extubation failure as well as its impact on the clinical course in a large cohort.
Liquid biopsy of cerebrospinal fluid enabling the detection and therapeutic targeting of the BRAFV600E mutation in a patient with overlapping Erdheim-Chester/Rosai-Dorfman disease
Valentina Pieri, Giulia Berzero, Rosina Paterra, Laura Ferré, Alessandro Tomelleri, Corrado Campochiaro, Federica Esposito, Teresa Calimeri, Maria Giulia Cangi, Nazario Pio Tenace, Andrés José MarÃa Ferreri, Antonella Castellano, Maurizio Barbera, Nicoletta Anzalone, Lorenzo Gabriel Gay, Lorenzo Bello, Maurizio Colecchia, Maurilio Ponzoni, Gaetano Finocchiaro & Massimo Filippi
Conjugate torsional pendular nystagmus and palatal tremor after unilateral internuclear ophthalmoplegia
Hyung Lee, Ji-Soo Kim & Hyun Ah Kim
Refractory generalized myasthenia gravis treated successfully with telitacicept: two cases report
Zhouao Zhang, Zhouyi Wang, Xue Du, Xiaoyu Huang & Yong Zhang
Transient epileptic amnesia and medial temporal lobe swelling: further cases and historical perspective
Ronan N. McGinty & Andrew J. Larner
Update on leukodystrophies and developing trials
Giorgia Ceravolo, Kristina Zhelcheska, Violetta Squadrito, David Pellerin, Eloisa Gitto, Louise Hartley & Henry Houlden
doi : 10.1007/s00415-023-11996-5
Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These conditions can present a diagnostic challenge, requiring a comprehensive approach that combines clinical evaluation, neuroimaging, metabolic testing, and genetic testing.
The clinical phenotype of psychiatric-onset prodromal dementia with Lewy bodies: a scoping review
Chaminda Withanachchi Gunawardana, Elie Matar & Simon J. G. Lewis
doi : 10.1007/s00415-023-12000-w
Recent consensus research criteria have identified a ‘psychiatric onset’ form of prodromal dementia with Lewy bodies (DLB) characterised by prominent late-onset psychiatric symptoms. Although recognised as important to raise the index of diagnostic suspicion, evidence regarding this cohort was deemed too limited to impose formal criteria. We reviewed the published literature on psychiatric-onset DLB to identify key clinical characteristics and evidence gaps to progress our understanding of this entity.
Cavernomas: to treat or not to treat?
Sophie Voase & Neil P. Robertson
Correction to: Predicting neurologic recovery after severe acute brain injury using resting-state networks
Matthew Kolisnyk, Karnig Kazazian, Karina Rego, Sergio L. Novi, Conor J. Wild, Teneille E. Gofton, Derek B. Debicki, Adrian M. Owen & Loretta Norton
Correction to: Synergistic effects of vagus nerve stimulation and antiseizure medication
Yaroslav Winter, Katharina Sandner, Martin Glaser, Dumitru Ciolac, Victoria Sauer, Andreas Ziebart, Ali Karakoyun, Vitalie Chiosa, Assel Saryyeva, Joachim K. Krauss, Florian Ringel & Sergiu Groppa
Correction to: Acute vestibular migraine: a ghost diagnosis in patients with acute vertigo
Maria Francisca Rocha, Benjamin Sacks, Amira Al Lamki, Nehzat Koohi & Diego Kaski
Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors
Holger Hengel, Peter Martus, Jennifer Faber, Paola Giunti, Hector Garcia-Moreno, Nita Solanky, Thomas Klockgether, Kathrin Reetz, Bart P. van de Warrenburg, Magda M. Santana, Patrick Silva, Inês Cunha, LuÃs Pereira de Almeida, Dagmar Timmann, Jon Infante, Jeroen de Vries, Manuela Lima, Paula Pires, Khalaf Bushara, Heike Jacobi, Chiadi Onyike, Jeremy D. Schmahmann, Jeannette Hübener-Schmid, Matthis Synofzik, European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group & Ludger Schöls
