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JOURNAL ARTICLE
Giorgia Coratti, Francesca Bovis, Maria Carmela Pera, Mariacristina Scoto, Jacqueline Montes, Amy Pasternak, Anna Mayhew, Robert Muni-Lofra, Tina Duong, Annemarie Rohwer, Sally Dunaway Young, Matthew Civitello, Francesca Salmin, Irene Mizzoni, Simone Morando, Marika Pane, Emilio Albamonte, Adele D'Amico, Noemi Brolatti, Maria Sframeli, Chiara Marini-Bettolo, Valeria Ada Sansone, Claudio Bruno, Sonia Messina, Enrico Bertini, Giovanni Baranello, John Day, Basil T Darras, Darryl C De Vivo, Michio Hirano, Francesco Muntoni, Richard Finkel, Eugenio Mercuri
BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort. METHODS: The study employed two distinct methods. MDC was calculated using distribution-based approaches to consider standard error of measurement and effect size change in a population of 321 patients (176 SMA II and 145 SMA III), allowing for stratification based on age and function...
April 24, 2024: European Journal of Neurology
#2
LETTER
Pacôme Constant Dit Beaufils, Julien Plessis, Benoît Guillon
No abstract text is available yet for this article.
April 23, 2024: European Journal of Neurology
#3
JOURNAL ARTICLE
Yuqing Tu, Ying Liu, Shuping Fan, Jiaqi Weng, Mengcheng Li, Fan Zhang, Ying Fu, Jianping Hu
BACKGROUND AND PURPOSE: White 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. METHODS: In this prospective single-centre cohort study from 2019 to 2022, HSP patients and controls underwent magnetic resonance imaging evaluations...
April 23, 2024: European Journal of Neurology
#4
JOURNAL ARTICLE
Ali Al-Zuhairy, Johannes Jakobsen, Christian Krarup
BACKGROUND: To 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. RESULTS: At follow-up, the Z-score of the compound motor action potential amplitude of the median, fibular, and tibial nerves and the neurological performances were determined...
April 23, 2024: European Journal of Neurology
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JOURNAL ARTICLE
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, Emanuela Pappalardo, Paolo Costa, Marina Colombi, Diana Aguiar de Sousa, Sofia Rodrigues, Patrícia Canhão, Aleksander Tkach, Rosa Santacroce, Giovanni Favuzzi, Antonio Arauz, Donatella Colaizzo, Kostas Spengos, Amanda Hodge, Reina Ditta, Alessandro Pezzini, Jonathan M Coutinho, Vincent Thijs, Katarina Jood, Turgut Tatlisumak, José M Ferro, Pankaj Sharma
BACKGROUND AND PURPOSE: Coma 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. METHODS: We used data from the international, multicentre prospective observational BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. Only positively associated variables with coma with <10% missing data in univariate analysis were considered for the multivariate logistic regression model...
April 22, 2024: European Journal of Neurology
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JOURNAL ARTICLE
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 PURPOSE: Coronavirus 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 clinical effectiveness of COVID-19 vaccination. METHODS: Since March 2020, demographics and clinical data of patients with MS who developed COVID-19 have been collected at the Belgian National MS Centre in Melsbroek...
April 19, 2024: European Journal of Neurology
#7
JOURNAL ARTICLE
Jan Hendrik Schaefer, Felix Luft, Alexander Seiler, Elena Harborth, Sara Kaffenberger, Christoph Polkowski, Christian Foerch, Sriramya Lapa
BACKGROUND AND PURPOSE: Swallowing 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 ischaemic cerebellar stroke. METHODS: A retrospective analysis of patients consecutively admitted to an academic stroke centre with ischaemic stroke found only in the cerebellum was performed...
April 17, 2024: European Journal of Neurology
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JOURNAL ARTICLE
E Mulazzani, L Böhm, T Christmann, M Krumbholz, T Kümpfel, J Havla
BACKGROUND AND PURPOSE: Cryopyrin-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 assessed by optical coherence tomography (OCT). METHODS: Thirty eyes of 15 patients with NLRP3 low penetrance mutations (PwNLRP3) and 20 eyes of 10 age- and sex-matched healthy controls were examined by spectral-domain OCT as part of routine clinical care...
April 16, 2024: European Journal of Neurology
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LETTER
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
No abstract text is available yet for this article.
April 16, 2024: European Journal of Neurology
#10
LETTER
Josef Finsterer, Sounira Mehri
No abstract text is available yet for this article.
April 15, 2024: European Journal of Neurology
#11
REVIEW
Nicolas Villain, Robin Michalon
BACKGROUND: Recent 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. METHODS: This 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 in the 1960s-1980s, and current debates on the biological or clinicobiological definitions of AD...
April 15, 2024: European Journal of Neurology
#12
JOURNAL ARTICLE
Rick Dersch, Gabriel Torbahn, Sebastian Rauer
BACKGROUND AND PURPOSE: Residual 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. METHODS: A systematic literature search of MEDLINE and CENTRAL was performed. No restrictions on case definitions, study types or specific interventions were applied to enable a comprehensive overview of the available literature...
April 12, 2024: European Journal of Neurology
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EDITORIAL
Simon Fandler-Höfler, Benedetta Storti
No abstract text is available yet for this article.
April 10, 2024: European Journal of Neurology
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JOURNAL ARTICLE
Jinghan Xu, Xin Jiang, Qian Liu, Jiaxin Liu, Jinghuan Fang, Li He
BACKGROUND AND PURPOSE: The 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 AIS patients. METHODS: Acute ischaemic stroke patients who underwent MT were continuously enrolled from January 2018 to June 2023...
April 8, 2024: European Journal of Neurology
#15
JOURNAL ARTICLE
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
INTRODUCTION: 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 to alglucosidase alfa. METHODS: Data from the French Pompe registry were analyzed for patients who benefited from a switch to avalglucosidase alfa with at least 1 year of follow-up...
April 8, 2024: European Journal of Neurology
#16
JOURNAL ARTICLE
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, J Helen Cross, Shamima Rahman
BACKGROUND AND PURPOSE: Primary 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 was to develop guidelines and consensus recommendations on safe medication use and seizure management in mitochondrial epilepsy...
April 4, 2024: European Journal of Neurology
#17
JOURNAL ARTICLE
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, Marianne J Shawe-Taylor, Thomas E Williams, Katharine E Harding, Neil P Robertson
BACKGROUND AND PURPOSE: Treatment 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. METHODS: Treatment data on 4366 consecutive people with relapse-onset multiple sclerosis (MS) were pooled from 13 UK specialist centres during 2021...
April 3, 2024: European Journal of Neurology
#18
EDITORIAL
Bernhard J Steinhoff
No abstract text is available yet for this article.
April 3, 2024: European Journal of Neurology
#19
JOURNAL ARTICLE
Cathleen Morgan, Bradon Annegers, Matthew K Taylor, Sara Shuger Fox, Tyler J Titcomb
BACKGROUND AND PURPOSE: The 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 prospective cohort. METHODS: Women (n = 124,509) aged 22-104 years at baseline were included...
April 2, 2024: European Journal of Neurology
#20
Ferdinand Otto, Michael Seiberl, Bieler Lara, Tobias Moser, Waltraud Kleindienst, Wallner-Essl Walter, Koelblinger Peter, Peter Wipfler, Andrea Harrer
BACKGROUND AND PURPOSE: This study was undertaken to raise awareness of a role of B cells in immune checkpoint inhibitor (ICI)-associated neurological immune-related adverse events (nirAE). METHODS: A 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 B cell involvement. RESULTS: Two patients receiving ipilimumab/nivolumab for melanoma and chemotherapy/pembrolizumab for NSCLC developed nirAE in the form of myocarditis/myositis/myasthenia gravis overlap syndrome (triple M) and cerebellitis plus longitudinal transverse myelitis (c-LETM), respectively...
March 31, 2024: European Journal of Neurology
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