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Self-reported restrictions in different life domains and associated factors among people with multiple sclerosis in Sweden
Fitsum Sebsibe Teni, Alejandra Machado, Chantelle Murley, Katharina Fink, Hanna Gyllensten, Jessica Dervish, Jan Hillert, Emilie Friberg
doi : 10.1111/ene.15790
The heterogeneous symptoms of multiple sclerosis (MS) can considerably impact the lives of people with MS (PwMS). The aim of this study was to describe the extent of restrictions in different life domains that PwMS experience in relation to their symptoms and level of disability.
Real-time quaking-induced conversion assays for prions: Applying a sensitive but imperfect test in clinical practice
Samuel M. Jones, Evelyn B. Lazar, Amanda L. Porter, Christian C. Prusinski, Matthew R. Brier, Robert C. Bucelli, Gregory S. Day
doi : 10.1111/ene.15795
Real-time quaking-induced conversion (RT-QuIC) assays offer a sensitive and specific means for detection of prions, although false negative results are recognized in clinical practice. We profile the clinical, laboratory, and pathologic features associated with false negative RT-QuIC assays and extend these to frame the diagnostic approach to patients with suspected prion disease.
Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy
Takanobu Ishiguro, Takuya Konno, Norikazu Hara, Bin Zhu, Satoshi Okada, Mamoru Shibata, Reiko Saika, Takaya Kitano, Megumi Toko, Tomohisa Nezu, Yuka Hama, Tomoya Kawazoe, Ikuko Takahashi-Iwata, Ichiro Yabe, Kota Sato, Hayato Takeda, Shintaro Toda, Jin Nishimiya, Toshiyuki Teduka, Hiroaki Nozaki, Kensaku Kasuga, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi
doi : 10.1111/ene.15796
Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is an adult-onset leukoencephalopathy caused by mutations in CSF1R. The present study aimed to explore the broader genetic spectrum of CSF1R-related leukoencephalopathy in association with clinical and imaging features.
Divergent cognitive trajectories in early stage Huntington's disease: A 3-year longitudinal study
Saul MartÃÂnez-Horta, Jesús Perez-Perez, Javier Oltra-Cucarella, Frederic Sampedro, Andrea Horta-Barba, Arnau Puig-Davi, Javier Pagonabarraga, Jaime Kulisevsky
doi : 10.1111/ene.15806
Cognitive impairment is a central feature of Huntington's disease (HD), but it is unclear to what extent more aggressive cognitive phenotypes exist in HD among individuals with the same genetic load and equivalence in other clinical and sociodemographic variables.
Neurological and (neuro)psychological sequelae in intensive care and general ward COVID-19 survivors
Simona Klinkhammer, Janneke Horn, Annelien A. Duits, Johanna M. A. Visser-Meily, Esmée Verwijk, Arjen J. C. Slooter, Alida A. Postma, Caroline M. van Heugten, NeNeSCo Study Group
doi : 10.1111/ene.15812
Coronavirus disease 2019 (COVID-19) affects the brain, leading to long-term complaints. Studies combining brain abnormalities with objective and subjective consequences are lacking. Long-term structural brain abnormalities, neurological and (neuro)psychological consequences in COVID-19 patients admitted to the intensive care unit (ICU) or general ward were investigated. The aim was to create a multidisciplinary view on the impact of severe COVID-19 on functioning and to compare long-term consequences between ICU and general ward patients.
Stroke phenotype in cannabis users among young adults with ischemic stroke
Gabriel Gueyraud, Brigitte Guidolin, Jean-Marc Olivot, Fleur Lerebours, Marianne Barbieux-Guillot, Vincent Larrue, Cédric Gollion
doi : 10.1111/ene.15799
Incidence of ischemic stroke in young adults has been steadily increasing over the past 20 years. One hypothesis to explain this phenomenon is the increase in the use of illicit drugs, including cannabis. However, the mechanisms and the clinical presentation of ischemic stroke associated with cannabis use are unclear.
Lipids and amyotrophic lateral sclerosis: A two-sample Mendelian randomization study
Kailin Xia, Veronika Klose, Josef Högel, Tao Huang, Linjing Zhang, Johannes Dorst, Dongsheng Fan, Albert C. Ludolph
doi : 10.1111/ene.15810
Previous observational studies revealed a potential but partially controversial relation between lipid metabolism and the risk of amyotrophic lateral sclerosis (ALS), potentially prone to bias. Therefore, we aimed to study whether lipid metabolism involves genetically determined risk factors for ALS through Mendelian randomization (MR) analysis.
Risk of disease relapse, safety and tolerability of SARS-CoV-2 vaccination in patients with chronic inflammatory neuropathies
Pietro Emiliano Doneddu, Chiara Briani, Dario Cocito, Fiore Manganelli, Gian Maria Fabrizi, Sabrina Matà , Anna Mazzeo, Raffaella Fazio, Luana Benedetti, Marco Luigetti, Maurizio Inghilleri, Elisa Ruiu, Gabriele Siciliano, Giuseppe Cosentino, Girolama Alessandra Marfia, Marinella Carpo, Massimiliano Filosto, Giovanni Antonini, Francesca Notturno, Stefano Sotgiu, Laura Cucurachi, Claudia Dell'Aquila, Elisa Bianchi, Tiziana Rosso, Andrea Giordano, Marco Fernandes, Marta Campagnolo, Erdita Peci, Emanuele Spina, Matteo Tagliapietra, Martina Sperti, Luca Gentile, Camilla Strano, Francesco Germano, Marina Romozzi, Federica Moret, Ignazio Roberto Zarbo, Divina Valeria Viola, Elisa Vegezzi, Giorgia Mataluni, Stefano Cotti-Piccinelli, Luca Leonardi, Alessandra Carta, Eduardo Nobile-Orazio, the INCLUSIVE Study Group
doi : 10.1111/ene.15811
The aim was to evaluate the risk of relapse after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination, and its safety and tolerability, in patients with chronic inflammatory neuropathies.
Serum neurofilament light chain cut-off definition for clinical diagnosis and prognosis of amyotrophic lateral sclerosis
Mehdi Brousse, Constance Delaby, Elisa De La Cruz, Jens Kuhle, Pascal Benkert, Etienne Mondesert, Nelly Ginestet, Christophe Hirtz, William Camu, Sylvain Lehmann, Florence Esselin
doi : 10.1111/ene.15813
The neurofilament light chain (NfL) assay is gradually becoming an essential diagnostic tool for the diagnosis of many neurological diseases including amyotrophic lateral sclerosis (ALS). Different methods for the determination of this biomarker in serum have been developed in recent years.
Chronic inflammatory neuropathies and their impact on activities and participation
Henderyke A. Wonink, Willeke J. Kruithof, H. Stephan Goedee, Anita Beelen
doi : 10.1111/ene.15815
Chronic inflammatory demyelinating polyneuropathy (CIDP) and multifocal motor neuropathy (MMN) are inflammatory neuropathies that can lead to considerable limitations in daily activities and in social participation. However, systematic evaluation of these self-reported limitations is lacking in the currently available studies. Understanding the impact of these diagnoses on patients' life is important to optimize management strategies.
Patterns of response to anti-calcitonin gene-related peptide monoclonal antibodies during first 6 months of treatment in resistant migraine patients: Impact on outcome
Marta Torres-Ferrus, Victor J. Gallardo, Alicia Alpuente, Edoardo Caronna, Eulalia Giné-Ciprés, Patricia Pozo-Rosich
doi : 10.1111/ene.15816
The response pattern to monoclonal antibodies against calcitonin gene-related peptide (anti-CGRP MAbs) shown in migraine prevention clinical trials is not always reproducible at an individual level. This study was undertaken to describe patterns of start and consistency of the response to anti-CGRP MAbs during the first 6 months of treatment and the association with baseline clinical characteristics.
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment
Eugenio Mercuri, Giovanni Baranello, Odile Boespflug-Tanguy, Liesbeth De Waele, Nathalie Goemans, Janbernd Kirschner, Riccardo Masson, Elena S. Mazzone, Astrid Pechmann, Maria Carmela Pera, Carole Vuillerot, Silvia Bader-Weder, Marianne Gerber, Ksenija Gorni, Janine Hoffart, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S. Scalco, Wai Yin Yeung, Laurent Servais, SUNFISH Working Group
doi : 10.1111/ene.15499
Spinal muscular atrophy (SMA) is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene. Risdiplam is an orally administered molecule that modifies SMN2 pre-mRNA splicing to increase functional SMN protein.
Status epilepticus prognosis following levetiracetam administration: Analysis of loading doses
Ian Kuffer, Jan Novy, Andrea O. Rossetti
doi : 10.1111/ene.15791
Recommended loading doses of levetiracetam (LEV) for status epilepticus (SE) treatment have increased over time. However, this was not evidence-based, and the benefit of the increase remains unclear. The effect of different LEV loading doses on SE prognosis was explored.
Interplay between speech and gait variables in Parkinson's disease patients treated with subthalamic nucleus deep brain stimulation: A long-term instrumental assessment
Francesco Cavallieri, Annalisa Gessani, Andrea Merlo, Isabella Campanini, Carla Budriesi, Valentina Fioravanti, Giulia Di Rauso, Alberto Feletti, Benedetta Damiano, Sara Scaltriti, Noemi Guagnano, Elisa Bardi, Maria Giulia Corni, Francesca Antonelli, Francesca Cavalleri, Maria Angela Molinari, Sara Contardi, Elisa Menozzi, Annette Puzzolante, Giuseppe Vannozzi, Elena Bergamini, Giacomo Pavesi, Valérie Fraix, Sara Meoni, Alessandro Fraternali, Annibale Versari, Mirco Lusuardi, Giuseppe Biagini, Serge Pinto, Elena Moro, Franco Valzania
doi : 10.1111/ene.15803
To evaluate correlations between speech and gait parameters in the long term and under different medication and subthalamic nucleus deep brain stimulation (STN-DBS) conditions in a cohort of advanced Parkinson's disease (PD) patients.
Fundus imaging and perimetry in patients with idiopathic intracranial hypertension�an intermethod and interrater validity study
Zainab Rissan, Nadja Skadkær Hansen, Louise Ninett Carlsen, Johanne Juhl Korsbæk, Rigmor Højland Jensen, Steffen Hamann, Henrik Winther Schytz
doi : 10.1111/ene.15802
There is a need to improve the diagnostic process of patients suspected of papilledema. In patients with known or suspected idiopathic intracranial hypertension a fundus imaging and perimetric visual field assessment system (COMPASS) performed at a headache center was validated in comparison to an assessment (Topcon plus OCTOPUS) at a neuroophthalmological clinic.
Sex hormones differentially contribute to Parkinson disease in males: A multimodal biomarker study
Roberta Bovenzi, Giulia Maria Sancesario, Matteo Conti, Piergiorgio Grillo, Rocco Cerroni, Jacopo Bissacco, Paolo Forti, Emilia Giannella, Massimo Pieri, Silvia Minosse, Valentina Ferrazzoli, Noemi Pucci, Mario Laudazi, Roberto Floris, Francesco Garaci, Mariangela Pierantozzi, Alessandro Stefani, Nicola Biagio Mercuri, Eliseo Picchi, Francesca Di Giuliano, Tommaso Schirinzi
doi : 10.1111/ene.15801
Parkinson disease (PD) presents relevant sex-related differences in epidemiology, pathophysiology, and clinical features, with males being more vulnerable to the disease. Sex hormones might have a role, as the experimental models suggest; however, human-based evidence is scarce.
Exercise induced muscle blood flow is decreased in Charcot–Marie–Tooth disease type 1 polyneuropathy: a power Doppler analysis
Orna Gera, Efrat Shavit-Stein, Taly Amichai, Vera Nikitin, Merav Ben David, Lior Greenbaum, Joab Chapman, Amir Dori
doi : 10.1111/ene.15789
Intramuscular blood flow increases during physical activity and may be quantified immediately following exercise using power Doppler sonography. Post-exercise intramuscular blood flow is reduced in patients with muscular dystrophy, associated with disease severity and degenerative changes
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages
Nicolas Pons, Gorka Fernández-Eulate, Antoine Pegat, Marie Théaudin, Régis Guieu, Paolo Ripellino, Manon Devedjian, Patrick Mace, Marion Masingue, Sarah Léonard-Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Françoise Bouhour, Jean-Marc Good, Annie Verschueren, Aude-Marie Grapperon, Emmanuelle Salort, Anaïs Grosset, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Anne-Laure Bédat-Millet, Ariane Choumert, Anne Barnier, Ghassen Hamdi, Gaëtan Lesca, Fabienne Prieur, Arnaud Bruneel, Philippe Latour, Tanya Stojkovic, Shahram Attarian, Nathalie Bonello-Palot
doi : 10.1111/ene.15793
Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot–Marie–Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants.
Thymectomy in thymomatous generalized myasthenia gravis: An analysis of the prognosis and risk factors
Jinwei Zhang, Peng Zhang, Hui Zhang, Yuantao Cui, Yuan Chen, Peng Lv, Xin Li, Peng Zhang
doi : 10.1111/ene.15807
This study investigated the postthymectomy outcomes and factors affecting the prognosis of thymomatous generalized myasthenia gravis (TGMG).
Efficacy of remote ischemic conditioning does not differ between men and women: A secondary analysis of the RICAMIS study
Hui-Ling Qu, Xiao-Yu Sun, Yu Cui, Yi-Na Zhang, Hui-Sheng Chen
doi : 10.1111/ene.15805
The present study aimed to determine sex difference in clinical outcomes after Remote Ischemic Conditioning for Acute Moderate Ischemic Stroke (RICAMIS).
Right arcuate fasciculus as outcome predictor after low-frequency repetitive transcranial magnetic stimulation in nonfluent aphasic stroke
Bing-Fong Lin, Fei Hon, Mu-Yun Lin, Po-Yi Tsai, Chia-Feng Lu
doi : 10.1111/ene.15808
A reliable neuroimaging biomarker to predict language improvement after neuromodulation in post-stroke aphasia is lacking. It is hypothesized that aphasic patients with stroke injuries in the left primary language circuits but with sufficient right arcuate fasciculus (AF) integrity might respond to low-frequency repetitive transcranial magnetic stimulation (LF-rTMS), leading to language improvement.
High-risk carotid plaques and incident ischemic stroke in patients with atrial fibrillation in the Cardiovascular Health Study
Jean Jacques Noubiap, Gijo Thomas, Joseph Kamtchum-Tatuene, Melissa E. Middeldorp, Prashanthan Sanders
doi : 10.1111/ene.15817
Whether carotid artery disease could improve stroke risk stratification tools in patients with atrial fibrillation (AF) remains uncertain. This study was undertaken to investigate the risk of ischemic stroke associated with occlusive and nonocclusive carotid atherosclerotic disease in patients with AF in the prospective population-based Cardiovascular Health Study.
Clinical and radiological description of 120 pediatric stroke-like episodes
Chloe Durrleman, David Grevent, Melodie Aubart, Manoelle Kossorotoff, Charles-Joris Roux, Anna Kaminska, Marlene Rio, Giulia Barcia, Nathalie Boddaert, Arnold Munnich, Rima Nabbout, Isabelle Desguerre
doi : 10.1111/ene.15821
Stroke-like episodes (SLEs) are defined as acute onset of neurological symptoms mimicking a stroke and radiological lesions non-congruent to vascular territory. We aimed to analyze the acute clinical and radiological features of SLEs to determine their pathophysiology.
Risk of future stroke in patients with a diagnosis of peripheral vertigo in the emergency department
Jeong-Yoon Choi, Seok Kim, Dachung Boo, Sooyoung Yoo, Hyo-Jung Kim, Jun Yup Kim, Keon-Joo Lee, Jihoon Kang, Beom Joon Kim, Moon-Ku Han, Hee-Joon Bae, Ji-Soo Kim
doi : 10.1111/ene.15543
The temporal characteristics of stroke risks were evaluated in emergency department patients who had a diagnosis of peripheral vertigo. It was also attempted to reveal the stroke risk factor amongst those with peripheral vertigo.
Circadian rhythm and aneurysmal subarachnoid hemorrhage: Is there an alarm clock for the rupture timing?
Meltem Gümüs, Maryam Said, Mehdi Chihi, Thiemo F. Dinger, Jan Rodemerk, Benedikt Frank, Marvin Darkwah Oppong, Philipp Dammann, Karsten H. Wrede, Michael Forsting, Ulrich Sure, Ramazan Jabbarli
doi : 10.1111/ene.15804
Data on the temporal distribution of the bleeding time of intracranial aneurysms are limited to a few small studies. With this study, the aim was to analyze time patterns of the occurrence of aneurysmal subarachnoid hemorrhage (SAH), particularly focusing on the impact of patients' socio-demographic and clinical characteristics on the ictus timing.
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients
Anna Ardissone, Giulia Ferrera, Costanza Lamperti, Valeria Tiranti, Daniele Ghezzi, Isabella Moroni, Eleonora Lamantea
doi : 10.1111/ene.15814
Mitochondrial diseases (MDs) are heterogeneous disorders caused by mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) associated with specific syndromes. However, especially in childhood, patients often display heterogeneity.
Gapless Electrocardiogram-Monitoring in stroke at high risk of atrial fibrillation
Achim Leo Burger, Cornelia Roesler, Johanna Ebner, Peter Sommer, Sebastian Mutzenbach, Walther-Benedikt Winkler, Franz Weidinger, Robin Ristl, Thomas Pezawas, Stefan Greisenegger
doi : 10.1111/ene.15741
Previous studies investigating prolonged electrocardiogram (ECG)-monitoring after ischemic stroke had significant gaps between the index event and the beginning of long-term monitoring. Atrial fibrillation (AF) detection might be higher if prolonged cardiac rhythm documentation is performed with a gapless approach without any interruption of monitoring time.
Surgical hematoma evacuation of cortical intracerebral hemorrhage ≥10 ml reduces risk of subsequent epilepsy by more than 70%: A retrospective monocenter study
Tamara M. Welte, Josephine Steidl, Jenny Stritzelberger, Stephanie Gollwitzer, Johannes D. Lang, Caroline Reindl, Stefan Rampp, Anna Maslarova, Sebastian Brandner, Stefan Hock, Iris Muehlen, Arnd Doerfler, Joji B. Kuramatsu, Stefan Schwab, Hagen B. Huttner, Maximilian I. Sprügel, Hajo M. Hamer
doi : 10.1111/ene.15577
The aim of this study was to re-evaluate risk factors for post-ICH epilepsy (PICHE) and examine the impact of surgical hematoma evacuation on epilepsy development after ICH.
Visuo-spatial processing is linked to cortical glutamate dynamics in Parkinson's disease � a 7-T functional magnetic resonance spectroscopy study
Anja Ophey, Ezequiel Farrher, Nora Pagel, Aline Seger, Christopher E. J. Doppler, N. Jon Shah, Elke Kalbe, Gereon R. Fink, Michael Sommerauer
doi : 10.1111/ene.15818
Cognitive decline is a frequent and debilitating non-motor symptom for patients with Parkinson's disease (PD). Metabolic alterations in the occipital cortex during visual processing may serve as a biomarker for cognitive decline in patients with PD.
Leveraging genetic predictors of factor XI levels to anticipate results from clinical trials
Iyas Daghlas, Dipender Gill
doi : 10.1111/ene.15820
Factor XI (FXI) is a promising therapeutic target for the prevention of thrombotic disease without increasing bleeding risk.
Both perimenstrual and nonperimenstrual migraine days respond to anti-calcitonin gene-related peptide (receptor) antibodies
Iris E. Verhagen, Simone de Vries Lentsch, Britt W. H. van der Arend, Saskia le Cessie, Antoinette MaassenVanDenBrink, Gisela M. Terwindt
doi : 10.1111/ene.15794
Anti-calcitonin gene-related peptide (CGRP) (receptor) antibodies effectively reduce overall migraine attack frequency, but whether there are differences in effect between perimenstrual and nonperimenstrual migraine days has not been investigated.
Heart rate variability modification as a predictive factor of sudden unexpected death in epilepsy: How far are we? A systematic review and meta-analysis
Giacomo Evangelista, Fedele Dono, Stefano Consoli, Jacopo Lanzone, Clarissa Corniello, Mirella Russo, Francesca Anzellotti, Marco Onofrj, Catello Vollono, Stefano L. Sensi
doi : 10.1111/ene.15792
Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected death in people with epilepsy, with or without evidence of an epileptic seizure. The pathophysiological mechanism underlying SUDEP appears to be partly associated with an autonomic nervous system (ANS) dysfunction.
Comment on: Endovascular therapy versus no endovascular therapy in patients receiving best medical management for acute isolated occlusion of the posterior cerebral artery: AÂ systematic review and meta-analysis
Pengcheng Zhu, Tao Wu
doi : 10.1111/ene.15798
Response to Zhu and Wu's comment on “Endovascular therapy versus no endovascular therapy in patients receiving best medical management for acute isolated occlusion of the posterior cerebral artery: A systematic review and meta-analysis�
Stephanos Finitsis, Anne Berberich, Thanh N. Nguyen, Simon Nagel
doi : 10.1111/ene.15797
