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Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5 Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-23 Yuqing Tu, Ying Liu, Shuping Fan, Jiaqi Weng, Mengcheng Li, Fan Zhang, Ying Fu, Jianping Hu
Background and purposeWhite matter (WM) damage is the main target of hereditary spastic paraplegia (HSP), but mounting evidence indicates that genotype‐specific grey matter (GM) damage is not uncommon. Our aim was to identify and compare brain GM and WM damage patterns in HSP subtypes and investigate how gene expression contributes to these patterns, and explore the relationship between GM and WM damage
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Prevention of axonal loss after immediate dosage titration of immunoglobulin in multifocal motor neuropathy Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-23 Ali Al‐Zuhairy, Johannes Jakobsen, Christian Krarup
BackgroundTo evaluate whether ongoing axonal loss can be prevented in multifocal motor neuropathy (MMN) treated with immunoglobulin G (IgG), a group of patients with a median disease duration of 15.7 years (range: 8.3–37.8), treated with titrated dosages of immunoglobulins, was studied electrophysiologically at time of diagnosis and at follow‐up.ResultsAt follow‐up, the Z‐score of the compound motor
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Brain abscess and heart: the phantom menace? Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-23 Pacôme Constant dit Beaufils, Julien Plessis, Benoît Guillon
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Coma in adult cerebral venous thrombosis: The BEAST study Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-22 Redoy Ranjan, Gie Ken‐Dror, Ida Martinelli, Elvira Grandone, Sini Hiltunen, Erik Lindgren, Maurizio Margaglione, Veronique Le Cam Duchez, Aude Triquenot Bagan, Marialuisa Zedde, Nicola Giannini, Ynte M. Ruigrok, Bradford B. Worrall, Jennifer J. Majersik, Jukka Putaala, Elena Haapaniemi, Susanna M. Zuurbier, Matthijs C. Brouwer, Serena M. Passamonti, Maria Abbattista, Paolo Bucciarelli, Robin Lemmens
Background and purposeComa is an independent predictor of poor clinical outcomes in cerebral venous thrombosis (CVT). We aimed to describe the association of age, sex, and radiological characteristics of adult coma patients with CVT.MethodsWe used data from the international, multicentre prospective observational BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. Only
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Clinical effectiveness of coronavirus disease 2019 vaccination in patients with multiple sclerosis stratified by disease‐modifying treatment Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-20 Marijke De Troyer, Ann Van Remoortel, Jeroen Van Schependom, Laetitia Della Faille, Marie B. D'hooghe, Gertjan Peeters, Guy Nagels, Miguel D'haeseleer
Background and purposeCoronavirus disease 2019 (COVID‐19) vaccination has been associated with a dampened humoral and/or cellular immune response in patients with multiple sclerosis (MS) who were concurrently on disease‐modifying treatment (DMT) with B‐cell depleting agents or sphingosine‐1‐phosphate receptor modulators (S1PRMs). Our main goal was to investigate the impact of these DMT classes on the
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Prevalence, recovery and phenotype of dysphagia in patients with ischaemic cerebellar stroke Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-18 Jan Hendrik Schaefer, Felix Luft, Alexander Seiler, Elena Harborth, Sara Kaffenberger, Christoph Polkowski, Christian Foerch, Sriramya Lapa
Background and purposeSwallowing is a complex task, moderated by a sophisticated bilateral network including multiple supratentorial regions, the brainstem and the cerebellum. To date, conflicting data exist about whether focal lesions to the cerebellum are associated with dysphagia. Therefore, the aim of the study was to evaluate dysphagia prevalence, recovery and dysphagia pattern in patients with
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Optical coherence tomography assessment of disease activity in cryopyrin‐associated periodic syndrome Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-17 E. Mulazzani, L. Böhm, T. Christmann, M. Krumbholz, T. Kümpfel, J. Havla
Background and purposeCryopyrin‐associated periodic syndrome is a rare autoinflammatory disease caused by gain‐of‐function mutations or variants in the NLRP3 gene. Clinically, patients suffer from a broad spectrum of both systemic and neurological symptoms. The aim of this study was to determine whether systemic inflammation demonstrated by serum amyloid A (SAA) elevation is associated with neuroinflammation
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Reply to the letter: Headaches during/after SARS‐CoV‐2 infection/vaccination can be primary and secondary as well as acute and chronic, by Finsterer J and Mehri S Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-17 Dimos‐Dimtirios D. Mitsikostas, Edoardo Caronna, Marina De Tommaso, Christina I. Deligianni, Esme Ekizoglu, Hayrunnisa Bolay, Carl H. Göbel, Espen Saxhaug Kristoffersen, Christian Lampl, Elena Moro, Patricia Pozo‐Rosich, Johann Sellner, Gisela Terwindt, Pablo Irimia‐Sieira
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Headaches during/after SARS‐CoV‐2 infection/vaccination can be primary and secondary as well as acute and chronic Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-16 Josef Finsterer, Sounira Mehri
We read with interest Mitsikostas et al.'s [1] systematic review of facial pain and headaches in patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection (SC2I) or after SARS-CoV-2 vaccination (SC2V). No data on SC2I/SC2V-related facial pain were identified [1]. SC2I-related headaches were reported in 6.5%–74.6% of cases and have been attributed to immune-mediated mechanisms
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What is Alzheimer's disease? An analysis of nosological perspectives from the 20th and 21st centuries Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-15 Nicolas Villain, Robin Michalon
BackgroundRecent US proposals suggest defining Alzheimer's disease (AD) based on β‐amyloidosis alone. This sparked debates that echoed historical ones about the significance of brain lesions and clinical phenotype.MethodsThis review covers debates on AD nosology through three key periods: AD's discovery in German‐speaking countries in the early 20th century, its redefinition in Anglo‐Saxon countries
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Treatment of post‐treatment Lyme disease symptoms—a systematic review Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-12 Rick Dersch, Gabriel Torbahn, Sebastian Rauer
Background and purposeResidual symptoms after treatment of Lyme disease, sometimes called post‐treatment Lyme disease symptoms (PTLDs), are a matter of ongoing controversy. To guide treatment recommendations, a systematic review was performed of the available literature on specific treatment for PTLDs.MethodsA systematic literature search of MEDLINE and CENTRAL was performed. No restrictions on case
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Acquired cerebral amyloid angiopathy: more questions than answers Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-10 Simon Fandler‐Höfler, Benedetta Storti
Cerebral amyloid angiopathy (CAA) is defined by the deposition of amyloid β (Aβ) in cerebral vessel walls [1]. Until rather recently, two forms of CAA were known: sporadic CAA, commonly found in advanced age; and hereditary CAA, caused by monogenic mutations, most frequently in the Aβ precursor protein. In the last few years, an acquired form of CAA, often termed iatrogenic CAA, has been described
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Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-08 Céline Tard, Françoise Bouhour, Maud Michaud, Stephane Beltran, Maxime Fournier, Florence Demurger, Emmeline Lagrange, Sylvain Nollet, Sabrina Sacconi, Jean-Baptiste Noury, Armelle Magot, Pascal Cintas, Dimitri Renard, Joëlle Deibener-Kaminsky, Claire Lefeuvre, Jean-Baptiste Davion, Emmanuelle Salort-Campana, Azzeddine Arrassi, Nadjib Taouagh, Marco Spinazzi, , Shahram Attarian, Pascal Laforêt
Late-onset Pompe disease (LOPD) is characterized by a progressive myopathy resulting from a deficiency of acid α-glucosidase enzyme activity. Enzyme replacement therapy has been shown to be effective, but long-term treatment results vary. Avalglucosidase alfa demonstrated non-inferiority to alglucosidase alfa in a phase 3 study, allowing in France compassionate access for advanced LOPD patients unresponsive
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Lower serum uric acid to serum creatinine ratio as a predictor of poor functional outcome after mechanical thrombectomy in acute ischaemic stroke Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-08 Jinghan Xu, Xin Jiang, Qian Liu, Jiaxin Liu, Jinghuan Fang, Li He
Background and purposeThe ratio of serum uric acid (SUA) to serum creatinine (SCr), representing normalized SUA for renal function, is associated with functional outcome in acute ischaemic stroke (AIS) patients. However, its effect on AIS patients undergoing mechanical thrombectomy (MT) remains unknown. This study aimed to investigate the influence of the SUA/SCr ratio on clinical outcome in MT‐treated
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Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-05 Michelangelo Mancuso, Maria T. Papadopoulou, Yi Shiau Ng, Anna Ardissone, Marcello Bellusci, Enrico Bertini, Lidia Di Vito, Teresinha Evangelista, Carmen Fons, Omar Hikmat, Rita Horvath, Thomas Klopstock, Cornelia Kornblum, Costanza Lamperti, Laura Licchetta, Maria Judit Molnar, Kristin N. Varhaug, Mar O'Callaghan, Ronit M. Pressler, Manuel Schiff, Serenella Servidei, Nora Szabo, Gráinne S. Gorman
Background and purposePrimary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including heart, muscle and brain. Epilepsy may be the presenting feature of PMD, can be difficult to treat and often represents a poor prognostic feature. The aim of this study
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Women with epilepsy in Rwanda—a real real‐world study Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-03 Bernhard J. Steinhoff
In recent years, it has become somewhat fashionable to perform and publish so-called “real-world” studies. Usually, these are non-interventional observational and uncontrolled monocenter or multicenter studies dealing with the efficiency of recently introduced new generation antiseizure medications (ASMs) after labeling. But, is this real world really reflecting what we should call the real epilepsy
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Real‐world persistence of multiple sclerosis disease‐modifying therapies Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-03 Emma C. Tallantyre, Ruth Dobson, Joseph L. J. Froud, Frederika A. St John, Valerie M. Anderson, Tarunya Arun, Lauren Buckley, Nikos Evangelou, Helen L. Ford, Ian Galea, Sumi George, Orla M. Gray, Aimee M. Hibbert, Mo Hu, Stella E. Hughes, Gillian Ingram, Seema Kalra, Chia‐Hui E. Lim, Joela T. M. Mathews, Gavin V. McDonnell, Naomi Mescall, Sam Norris, Stephen J. Ramsay, Claire M. Rice, Melanie J. Russell
Background and purposeTreatment persistence is the continuation of therapy over time. It reflects a combination of treatment efficacy and tolerability. We aimed to describe real‐world rates of persistence on disease‐modifying therapies (DMTs) for people with multiple sclerosis (pwMS) and reasons for DMT discontinuation.MethodsTreatment data on 4366 consecutive people with relapse‐onset multiple sclerosis
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Association of diabetes mellitus with dementia‐ and non‐dementia‐related mortality amongst women: a secondary competing risks analysis of the California Teachers Study Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-02 Cathleen Morgan, Bradon Annegers, Matthew K. Taylor, Sara Shuger Fox, Tyler J. Titcomb
Background and purposeThe prevalence of dementia is rapidly increasing. Attempts to further understand modifiable risk factors such as diabetes mellitus (DM) are urgently needed to inform public health policies for prevention. Thus, the objective of the current study was to assess the relationship between DM and risk of dementia and non‐dementia mortality amongst women in the California Teachers Study
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Beyond T cell toxicity – Intrathecal chemokine CXCL13 indicating B cell involvement in immune‐related adverse events following checkpoint inhibition: A two‐case series and literature review Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-01 Ferdinand Otto, Michael Seiberl, Lara Bieler, Tobias Moser, Waltraud Kleindienst, Walter Wallner‐Essl, Peter Koelblinger, Peter Wipfler, Andrea Harrer
Background and purposeThis study was undertaken to raise awareness of a role of B cells in immune checkpoint inhibitor (ICI)‐associated neurological immune‐related adverse events (nirAE).MethodsA systematic literature review was made, with case observations of a melanoma and a non‐small cell lung cancer (NSCLC) patient who developed ICI‐associated nirAE with cerebrospinal fluid (CSF) findings indicating
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Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-01 Marianela Schiava, Robert Muni Lofra, John P. Bourke, Jordi Díaz‐Manera, Meredith K. James, Maha A. Elseed, Monika Malinova, Jassi Michel‐Sodhi, Dionne Moat, Elisabetta Ghimenton, Michelle Mccallum, Carla Florencia Bolaño Díaz, Anna Mayhew, Karen Wong, Mark Richardson, Giorgio Tasca, Gail Eglon, Michelle Eagle, Cathy Turner, Emma Heslop, Volker Straub, Chiara Marini Bettolo, Michela Guglieri
Background and purposeThe transition to adult services, and subsequent glucocorticoid management, is critical in adults with Duchenne muscular dystrophy. This study aims (1) to describe treatment, functional abilities, respiratory and cardiac status during transition to adulthood and adult stages; and (2) to explore the association between glucocorticoid treatment after loss of ambulation (LOA) and
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Antiganglioside antibody frequency in routine clinical care settings Eur. J. Neurol. (IF 5.1) Pub Date : 2024-04-01 Niklas Giesche, Samuel Tobias Böhm‐Gonzalez, Benedict Kleiser, Markus C. Kowarik, Evelyn Dubois, Elke Stransky, Marcel Armbruster, Alexander Grimm, Justus Marquetand
Background and purposeAntiganglioside antibodies (AGAs) might be involved in the etiopathogenesis of many neurological diseases, such as Miller–Fisher syndrome (MFS) and Guillain–Barré syndrome (GBS). Available comprehensive reference data regarding AGA positivity rates and cross‐responsiveness among AGAs (where one line immunoblot is positive for ≥1 AGA) during routine clinical care are scant.MethodsIn
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Therapeutic choices and disease activity after 2 years of treatment with cladribine: An Italian multicenter study (CladStop) Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-28 Irene Schiavetti, Alessio Signori, Angela Albanese, Jessica Frau, Eleonora Cocco, Lorena Lorefice, Sonia di Lemme, Roberta Fantozzi, Diego Centonze, Doriana Landi, Girolama Marfia, Elisabetta Signoriello, Giacomo Lus, Chiara Zecca, Claudio Gobbi, Rosa Iodice, Leonardo Malimpensa, Cinzia Cordioli, Diana Ferraro, Francesca Ruscica, Livia Pasquali, Anna Repice, Paolo Immovilli, Maria Teresa Ferrò, Simona
Cladribine tablets, a purine analogue antimetabolite, offer a unique treatment regimen, involving short courses at the start of the first and second year, with no further treatment needed in years 3 and 4. However, comprehensive evidence regarding patient outcomes beyond the initial 24 months of cladribine treatment is limited.
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Service delivery in acute ischemic stroke patients: Does sex matter? Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-30 Friedrich Medlin, Davide Strambo, Dimitris Lambrou, Valeria Caso, Patrik Michel
Background and purposeWomen with acute ischemic stroke (AIS) are older and have greater preexisting handicap than men. Given that these factors do not fully explain their poorer long‐term outcomes, we sought to investigate potential sex differences in the delivery of acute stroke care in a large cohort of consecutive AIS patients.MethodsWe analyzed all patients from ASTRAL (Acute Stroke Registry and
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General neurology: Current challenges and future implications Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-28 Claudio Lino Alberto Bassetti, Alice Accorroni, Astri Arnesen, Hamidon Bin Basri, Thomas Berger, Peter Berlit, Paul Boon, Augustina Charway‐Felli, Jera Kruja, Steven Lewis, Michael Markowski, Marco Tulio Medina, Pamela McCombe, Elena Moro, Serefnur Ozturk, Paul Smith, Vladimira Vuletic
Background and purposeIn the coming decades, the world will face an increasing burden of neurological disorders (ND) and an urgent need to promote brain health. These challenges contrast with an insufficient neurological workforce in most countries, as well as decreasing numbers of general neurologists and neurologists attracted to work in general neurology (GN). This white paper aims to review the
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Pre‐morbid sleep disturbance and its association with stroke severity: results from the international INTERSTROKE study Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-27 Christine E. Mc Carthy, Salim Yusuf, Conor Judge, John Ferguson, Graeme J. Hankey, Shahram Oveis Gharan, Albertino Damasceno, Helle Klingenberg Iversen, Annika Rosengren, Okechukwu Ogah, Luísa Avezum, Patricio Lopez‐Jaramillo, Denis Xavier, Xingyu Wang, Sumathy Rangarajan, Martin J. O'Donnell
Background and purposeWhilst sleep disturbances are associated with stroke, their association with stroke severity is less certain. In the INTERSTROKE study, the association of pre‐morbid sleep disturbance with stroke severity and functional outcome following stroke was evaluated.MethodsINTERSTROKE is an international case–control study of first acute stroke. This analysis included cases who completed
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Factors affecting the topography of nitrous oxide‐induced neurological complications Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-27 Eva Sole Cruz, Etienne Fortanier, Frederic Hilezian, Adil Maarouf, Clémence Boutière, Sarah Demortière, Audrey Rico, Emilien Delmont, Jean Pelletier, Shahram Attarian, Bertrand Audoin
BackgroundThe factors underlying the topography of nitrous oxide (N2O)‐induced neurological complications are unknown.MethodsWe included all consecutive patients admitted to the university hospital of Marseille for N2O‐induced neurological complications in a prospective observational study. Patients underwent neurological examination, spinal cord magnetic resonance imaging, and nerve conduction studies
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Expert consensus recommendations for improving and standardising the assessment of patients with generalised myasthenia gravis Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-24 Andreas Meisel, Francesco Saccà, Jennifer Spillane, John Vissing
Regular and consistent disease assessment could provide a clearer picture of burden in generalised myasthenia gravis (gMG) and improve patient care; however, the use of assessment tools in practice lacks standardisation. This modified Delphi approach was taken to review current evidence on assessment tool use in gMG and develop expert-derived consensus recommendations for good practice.
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Compassionate mind training for people with Parkinson's disease: A pilot study and predictors of response Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-23 Silvia Della Morte, Elena Berti, Carolina Lalli, Nicola Modugno, Francesca Morgante, Anette Schrag, Elena Makovac, Lucia Ricciardi
IntroductionPeople with Parkinson's disease (PD) often present with disabling neuropsychiatric symptoms. Compassionate mind training (CMT) is a psychological approach effective in reducing stress and promoting psychological well‐being. Heart rate variability (HRV), a measure reflecting sympathovagal balance, has been associated with psychological well‐being and a compassionate attitude.AimTo assess
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Rate and characteristics of inflammatory neuropathies associated with brentuximab vedotin therapy Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-21 Arthur Matthys, Benjamin Bardel, Fabien Le Bras, Alain Créange, Tarik Nordine, Romain Gounot, Saskia Ingen‐Housz‐Oro, Muriel Carvalho, Jean‐Pascal Lefaucheur, Corinne Haioun, Violaine Planté‐Bordeneuve, Thierry Gendre
Background and purposePeripheral neuropathy is a frequent complication of brentuximab vedotin (BV), used in CD30+ lymphoma treatment. Classic BV‐induced neuropathy (BV‐CN) is a mild distal sensory axonal polyneuropathy. Severe BV‐induced inflammatory neuropathies (BV‐IN) have been described. BV‐IN contribute to lymphoma‐associated morbidity but might be immunotherapy‐responsive. Our primary objective
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Iatrogenic cerebral amyloid angiopathy in older adults Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-21 Larysa Panteleienko, Dermot Mallon, Rupert Oliver, Ahmed Toosy, Yuki Hoshino, Aya Murakami, Kanishk Kaushik, Marieke J. H. Wermer, Hideo Hara, Yusuke Yakushiji, Gargi Banerjee, David J. Werring
Background and purposeAn increasing number of cases of iatrogenic cerebral amyloid angiopathy (CAA) have now been reported worldwide. Proposed diagnostic criteria require a history of medical intervention with potential for amyloid‐β transmission, for example those using cadaveric dura mater or requiring instrumentation of the brain or spinal cord. Clinical presentation occurs after an appropriate
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Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient‐reported outcome measures Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-20 Bram De Wel, Louise Iterbeke, Lotte Huysmans, Ronald Peeters, Veerle Goosens, Nicolas Dubuisson, Peter van den Bergh, Vinciane Van Parijs, Gauthier Remiche, Liesbeth De Waele, Frederik Maes, Patrick Dupont, Kristl G. Claeys
Background and purposeBecause Becker muscular dystrophy (BMD) is a heterogeneous disease and only few studies have evaluated adult patients, it is currently still unclear which outcome measures should be used in future clinical trials.MethodsMuscle magnetic resonance imaging, patient‐reported outcome measures and a wide range of clinical outcome measures, including motor function, muscle strength and
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Clinical and neuroimaging phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy: A systematic review and meta‐analysis Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-20 Caroline Hagbohm, Russell Ouellette, Eoin P. Flanagan, Dagur I. Jonsson, Fredrik Piehl, Brenda Banwell, Ronny Wickström, Ellen Iacobaeus, Tobias Granberg, Benjamin V. Ineichen
ObjectiveThis study was undertaken to provide a comprehensive review of neuroimaging characteristics and corresponding clinical phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A), a rare but severe neuroinflammatory disorder, to facilitate early diagnosis and appropriate treatment.MethodsA PRISMA (Preferred Reporting Items for Systematic Reviews and Meta‐Analysis)‐conforming
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Reduction in short interval intracortical inhibition from the early stage reflects the pathophysiology in amyotrophic lateral sclerosis: A meta‐analysis study Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-20 Mana Higashihara, Nathan Pavey, Parvathi Menon, Mehdi van den Bos, Kazumoto Shibuya, Satoshi Kuwabara, Matthew C. Kiernan, Masayoshi Koinuma, Steve Vucic
Background and purposeCortical hyperexcitability has been identified as a diagnostic and pathogenic biomarker of amyotrophic lateral sclerosis (ALS). Cortical excitability is assessed by transcranial magnetic stimulation (TMS), a non‐invasive neurophysiological technique. The TMS biomarkers exhibiting highest sensitivity for cortical hyperexcitability in ALS remain to be elucidated. A meta‐analysis
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The presence and burden of cognitive issues: discordance between the perception of neurologists and people living with multiple sclerosis Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-19 Iris‐Katharina Penner, Virginia De Las Heras, Eddie Jones, Suzannah Hetherington, Himanshu Karu, Rahul Chetlangia, Sourav Biswas, Patricia Dominguez Castro, Carol Lines
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Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-18 Antri Savvidou, Kalliopi Sofou, Erik A. Eklund, Johan Aronsson, Niklas Darin
Background and purposePyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X‐linked PDHA1 gene. We aimed to investigate female relatives of index patients with PDHA1‐related disease to (i) describe the prevalence of female PDHA1 carriers, (ii) determine whether they had symptoms and signs, and (iii) delineate the associated phenotype.MethodsIn a national population‐based
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Cerebral amyloid angiopathy decades after red blood cell transfusions: a report of two cases from a prospective cohort Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-18 K. Kaushik, M. J. H. Wermer, E. S. van Etten
Background and purposePatients who underwent red blood cell (RBC) transfusion from donors who later developed multiple spontaneous intracerebral hemorrhages (ICHs) have recently been identified to have increased risk of ICH themselves. This increased risk of ICH was hypothesized to be related to iatrogenic cerebral amyloid angiopathy (iCAA) transmission. Two cases are presented who had RBC transfusion
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Re‐evaluating patient communication and care in angiographically negative subarachnoid hemorrhage: Balancing realism and optimism Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-16 Sara Khosdelazad, Jacoba M. Spikman, Sofie Solvang, Marieke J. H. Wermer, Niall Pender, Lieke S. Jorna, Sandra E. Rakers, Anouk van der Hoorn, Mohsen Javadpour, Rob J. M. Groen, Anne M. Buunk
Angiographically negative subarachnoid hemorrhage (anSAH) has traditionally been considered a benign condition, mainly because of favorable outcomes in the acute stage in comparison to the often negative acute outcomes of aneurysmal subarachnoid hemorrhage. However, a growing body of research in recent years shows that anSAH often leads to cognitive impairments, emotional distress, and difficulties
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Inter-hospital transfer for thrombectomy: transfer time is brain Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-14 Pierre Seners, Maeva Khyheng, Julien Labreuche, Bertrand Lapergue, Fernando Pico
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Frequency of ischaemic stroke and intracranial haemorrhage in patients with reversible cerebral vasoconstriction syndrome (RCVS) and posterior reversible encephalopathy syndrome (PRES) – A systematic review Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-12 Jana Kaufmann, Philipp Buecke, Thomas Meinel, Morin Beyeler, Adrian Scutelnic, Johannes Kaesmacher, Adnan Mujanović, Thomas Dobrocky, Hakim Arsany, Nils Peters, Werner Z'Graggen, Simon Jung, David Seiffge
Posterior reversible encephalopathy syndrome (PRES) and reversible cerebral vasoconstriction syndrome (RCVS) may cause ischaemic stroke and intracranial haemorrhage. The aim of our study was to assess the frequency of the afore-mentioned outcomes.
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Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-12 Anna Nigri, Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean Paul Medina Carrion, Sara Palermo, Laura Lequio, Federica Denegri, Federica Agosta, Edoardo Gioele Spinelli, Massimo Filippi, Marina Grisoli, Maria Consuelo Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Adriano Chiò, Maria Grazia Bruzzone, Cristina Moglia
Background and purposeThalamic alterations have been reported as a major feature in presymptomatic and symptomatic patients carrying the C9orf72 mutation across the frontotemporal dementia–amyotrophic lateral sclerosis (ALS) spectrum. Specifically, the pulvinar, a high‐order thalamic nucleus and timekeeper for large‐scale cortical networks, has been hypothesized to be involved in C9orf72‐related neurodegenerative
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European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERNEURO‐NMD) Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-12 Philip Van Damme, Ammar Al‐Chalabi, Peter M. Andersen, Adriano Chiò, Philippe Couratier, Mamede De Carvalho, Orla Hardiman, Magdalena Kuźma‐Kozakiewicz, Albert Ludolph, Christopher J. McDermott, Jesus S. Mora, Susanne Petri, Katrin Probyn, Evy Reviers, François Salachas, Vincenzo Silani, Ole‐Bjørn Tysnes, Leonard H. van den Berg, Gemma Villanueva, Markus Weber
BackgroundThis update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO‐NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS)
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Neurological autoimmunity in patients with non‐pulmonary neuroendocrine neoplasms: clinical manifestations and neural autoantibody profiles Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-11 Georgios Mangioris, Thorvardur R. Halfdanarson, Vanda A. Lennon, Bryce K. Chang, Divyanshu Dubey, P. James B. Dyck, Eoin P. Flanagan, Andrew McKeon, John R. Mills, Sean J. Pittock, Anastasia Zekeridou
Background and purposeParaneoplastic neurological autoimmunity is well described with small‐cell lung cancer, but information is limited for other neuroendocrine neoplasms (NENs).MethodsAdult patients with histopathologically confirmed non‐pulmonary NENs, neurological autoimmunity within 5 years of NEN diagnosis, and neural antibody testing performed at the Mayo Clinic Neuroimmunology Laboratory (January
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Cervical and thoracic spinal cord gray matter atrophy is associated with disability in patients with amyotrophic lateral sclerosis Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-11 Maria Janina Wendebourg, Matthias Weigel, Claudia Weidensteiner, Laura Sander, Eva Kesenheimer, Nicole Naumann, Tanja Haas, Philipp Madoerin, Nathalie Braun, Christoph Neuwirth, Markus Weber, Kathleen Jahn, Ludwig Kappos, Cristina Granziera, Kathi Schweikert, Michael Sinnreich, Oliver Bieri, Regina Schlaeger
Background and purposeIn amyotrophic lateral sclerosis (ALS), there is an unmet need for more precise patient characterization through quantitative, ideally operator‐independent, assessments of disease extent and severity. Radially sampled averaged magnetization inversion recovery acquisitions (rAMIRA) magnetic resonance imaging enables gray matter (GM) and white matter (WM) area quantitation in the
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Type 2 diabetes mellitus duration and subsequent risk of Alzheimer disease Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-07 Tomoyuki Kawada
I read a commentary article ‘Time-dependent impact of type 2 diabetes mellitus on incident prodromal Alzheimer disease’ [1] with great interest. Luo et al. investigated the association between type 2 diabetes mellitus (T2DM) and Alzheimer disease (AD), focusing on diabetes duration and comorbidities. The adjusted hazard ratio (HR) (95% confidence interval [CI]) of T2DM duration ≥5 years for AD was
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Reply to the letter by Yin et al. ‘Reevaluating the impact of antihypertensive medication on intracranial aneurysm formation: a call for clarification and further study’ Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-06 Juhana Frösen, Sari Räisänen, Antti Lindgren
We thank Dr Yin and colleagues for their interest in our work. In their letter, Yin and colleagues wish to underline the need to study whether antihypertensive medication can reduce the rate of formation of intracranial aneurysms. We agree that this is an important topic with high clinical relevance, and hence we have undertaken the effort of making our study [1]. In our study, we compared the use
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Association between sun exposure habits and disease progression in multiple sclerosis Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-05 Jing Wu, Tomas Olsson, Lars Alfredsson, Anna Karin Hedström
Background and purposeHigher latitude has been associated with increased occurrence of multiple sclerosis (MS) and with more severe disease. The aim was to study the impact of sun exposure habits on MS disease progression and health‐related quality of life.MethodsPatients from a population‐based case–control study were categorized based on sun exposure habits at diagnosis and were followed up to 15
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Lessons from the past to understand the future Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-05 Didier Leys, Claudia Sommer, Barbara Borroni, Andrew Chan, Mark Edwards, Alessandro Tessitore, Kristl Vonck
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Challenges to epilepsy management in Rwandan women living with epilepsy Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-02 Dirk E. Teuwen, Arlène Ndayisenga, Ieme Garrez, Fidèle Sebera, Sylvestre Mutungirehe, Josiane Umwiringirwa, Mustapha Ndiaye, Georgette Umuhoza, Paul A. J. M. Boon, Peter Dedeken
Background and purposeIn Rwanda, epilepsy prevalence ranges between 29‰ and 49‰. Many women living with epilepsy (WwE) are of childbearing age. Epilepsy characteristics and management, contraception, pregnancy, puerperium and stigma in WwE presenting at the neurology clinic of Ndera, Rwanda, were investigated.MethodsThis prospective cross‐sectional study investigated demographics, epilepsy characteristics
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Multidisciplinary management and care in rare neuromuscular disorders: A call for action Eur. J. Neurol. (IF 5.1) Pub Date : 2024-03-01 Kristin Ørstavik, Andreas Dybesland Rosenberger, Hanne Ludt Fossmo, Marianne Nordstrøm, Marianne de Visser
Rare neuromuscular disorders (NMDs) comprise a large spectrum of diseases that may be present at all ages, at birth or they may develop during early infancy or childhood, in adulthood, or late in life. The European definition of a rare disease is one that affects <1 in 2000 people. Many are hereditary, such as spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), myotonic dystrophy, and
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Reevaluating the impact of antihypertensive medication on intracranial aneurysm formation: a call for clarification and further study Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-29 Zihan Yin, Anjie Wang, Jizong Zhao
Recently, we read with great interest the article ‘Use of antihypertensive medication and formation of de novo intracranial aneurysms’ by Räisänen et al. [1]. The study found that antihypertensive drugs were not associated with a reduction in de novo saccular intracranial aneurysm (sIA) formation, with the hazard ratio (HR) estimated at 1.60 (95% confidence interval [CI] 0.84–3.06) in the multivariate
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Value of intravenous alteplase before thrombectomy among patients with tandem lesions and emergent carotid artery stenting: A subgroup analysis of the SWIFT DIRECT trial Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-26 Adnan Mujanovic, Tomas Dobrocky, Waltraud Pfeilschifter, Luca Remonda, Jildaz Caroff, Daniel Behme, David J. Seiffge, Carlo W. Cereda, Georg Kägi, Joe Leyon, Eike I. Piechowiak, Vincent Costalat, Judith Wagner, Emmanuel Chabert, Thomas R. Meinel, Olav Jansen, Angelika Alonso, Christian Loehr, David S. Liebeskind, Jan Gralla, Urs Fischer, Johannes Kaesmacher
The value of intravenous thrombolysis (IVT) in eligible tandem lesion patients undergoing endovascular treatment (EVT) is unknown. We investigated treatment effect heterogeneity of EVT + IVT versus EVT-only in tandem lesion patients. Additional analyses were performed for patients undergoing emergent internal carotid artery (ICA) stenting.
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Headaches and facial pain attributed to SARS‐CoV‐2 infection and vaccination: a systematic review Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-28 Dimos‐Dimtirios D. Mitsikostas, Edoardo Caronna, Marina De Tommaso, Christina I. Deligianni, Esme Ekizoglu, Hayrunnisa Bolay, Carl H. Göbel, Espen Saxhaug Kristoffersen, Christian Lampl, Elena Moro, Patricia Pozo‐Rosich, Johann Sellner, Gisela Terwindt, Pablo Irimia Sieira
Background and purposeThe aim was to provide insights to the characteristics of headache in the context of COVID‐19 on behalf of the Headache Scientific Panel and the Neuro‐COVID‐19 Task Force of the European Academy of Neurology (EAN) and the European Headache Federation (EHF).MethodsFollowing the Delphi method the Task Force identified six relevant questions and then conducted a systematic literature
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Etiological distribution of isolated oculomotor nerve palsy: analysis of 633 patients and literature review Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-27 Hyun‐Jae Kim, Hyo‐Jung Kim, Jeong‐Yoon Choi, Hee Kyung Yang, Jeong‐Min Hwang, Ji‐Soo Kim
Background and purposeThe etiological distribution of oculomotor nerve palsy has varied amongst the studies. This study aimed to define the clinical features and underlying etiologies of isolated oculomotor nerve palsy by recruiting patients from all departments in a referral‐based university hospital.MethodsThe medical records of 672 patients who had a confirmed diagnosis of isolated oculomotor nerve
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Clinical variables contributing to the identification of biologically defined subgroups within cognitively unimpaired and mild cognitive impairment individuals Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-27 Sofia Marcolini, Jaime D. Mondragón, Zeus T. Dominguez-Vega, Peter P. De Deyn, Natasha M. Maurits
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Biomarkers of neurodegeneration in isolated and antidepressant‐related rapid eye movement sleep behavior disorder Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-27 Francesco Biscarini, Fabio Pizza, Stefano Vandi, Alex Incensi, Elena Antelmi, Vincenzo Donadio, Raffaele Ferri, Rocco Liguori, Giuseppe Plazzi
Background and purposeThis study compared the features of isolated rapid eye movement (REM) sleep behavior disorder (iRBD) and antidepressant‐related REM sleep behaviour disorder (RBD) with the aim of highlighting markers that might distinguish the two entities.MethodsThe observational cohort study included RBD patients with and without antidepressant use (antiD+ and antiD− patients, respectively)
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Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-26 Pedro José Tomaselli, Julian Blake, James M. Polke, Osvaldo José Moreira do Nascimento, Mary M. Reilly, Wilson Marques Júnior, Matilde Laurá
Charcot−Marie−Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with motor NCVs in the upper limbs above 38 m/s are reported.
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Frequency and outcomes of gastrostomy insertion in a longitudinal cohort study of atypical parkinsonism Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-26 Christopher Kobylecki, Viorica Chelban, Yee Yen Goh, Emilia Michou, Riona Fumi, Marte Theilmann Jensen, Rahema Mohammad, Alyssa Costantini, Nirosen Vijiaratnam, Samantha Pavey, Nicola Pavese, P. Nigel Leigh, James B. Rowe, Michele T. Hu, Alistair Church, Huw R. Morris, Henry Houlden
BackgroundMultiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) show a high prevalence and rapid progression of dysphagia, which is associated with reduced survival. Despite this, the evidence base for gastrostomy is poor, and the optimal frequency and outcomes of this intervention are not known. We aimed to characterise the prevalence and outcomes of gastrostomy
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Unusual combinations of neurodegenerative pathologies with chronic traumatic encephalopathy (CTE) complicates clinical prediction of CTE Eur. J. Neurol. (IF 5.1) Pub Date : 2024-02-26 Foad Taghdiri, Mozhgan Khodadadi, Nusrat Sadia, Asma Mushtaque, Olivia F. T. Scott, Veronica Hirsch‐Reinhagen, Charles Tator, Richard Wennberg, Gabor G. Kovacs, M. Carmela Tartaglia
Background and purposeChronic traumatic encephalopathy (CTE) has gained widespread attention due to its association with multiple concussions and contact sports. However, CTE remains a postmortem diagnosis, and the link between clinical symptoms and CTE pathology is poorly understood. This study aimed to investigate the presence of copathologies and their impact on symptoms in former contact sports