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Natalizumab wearing-off symptoms: effect of extend interval dosing during Sars-CoV-2 pandemic
Giuseppe Magro, Stefania Barone, Federico Tosto, Antonio De Martino, Domenico Santange lo, Lucia Manzo, Angelo Pascarella, Pietro Bruno, Marilisa Pasquale, Antonio Gambardella & Paola Valentino
doi : 10.1007/s00415-022-11408-0
Volume 270, issue 2, February 2023
Many patients treated with Natalizumab experience wearing-off symptoms (WoS) towards the end of the administration cycle. During the pandemic we advised and asked patients undergoing treatment with Natalizumab if they wanted to be shifted from a standard interval dosing (StID of 4 weeks) to an extended interval dosing (ExID of 5–6 weeks), regardless of their JCV index. Our main objective was to study prevalence and incidence of WoS when ExID was adopted.
New-onset Myasthenia Gravis after SARS-CoV-2 infection: case report and literature review
Yan Tereshko, Gian Luigi Gigli, Sara Pez, Alessandro De Pellegrin & Mariarosaria Valente
doi : 10.1007/s00415-022-11472-6
We report the case of a 19-year-old female patient who developed Myasthenia Gravis 13Â days after SARS-CoV-2 infection with positive RT-PCR testing. Her symptoms initially involved the oculo-bulbar district, but they gradually worsened in 3Â months converting into a generalized form of Myasthenia Gravis complicated with a myasthenic crisis.
SARS-CoV-2 in patients with Friedreich ataxia
Megan M. Shen, Layne N. Rodden, Kellie McIntyre, Adriana Arias, Victoria Profeta, Kimberly Schadt & David R. Lynch
doi : 10.1007/s00415-022-11419-x
The global spread of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has drawn attention to the relationship between chronic underlying conditions and complications of coronavirus disease 2019 (COVID-19).
New onset of Susac syndrome after mRNA COVID-19 vaccine: a case report
Assunta Bianco, Francesca Colò, Silvia Falso, Rosellina Russo, Matteo Maria Carlà , Angelo Minucci, Gabriella Cadoni, Matteo Lucchini, Alessandra Cicia, Paolo Calabresi & Massimiliano Mirabella
Preventing falls: the use of machine learning for the prediction of future falls in individuals without history of fall
Ioannis Bargiotas, Danping Wang, Juan Mantilla, Flavien Quijoux, Albane Moreau, Catherine Vidal, Remi Barrois, Alice Nicolai, Julien Audiffren, Christophe Labourdette, François Bertin�Hugaul, Laurent Oudre, Stephane Buffat, Alain Yelnik, Damien Ricard, Nicolas Vayatis & Pierre-Paul Vidal
doi : 10.1007/s00415-022-11251-3
Nowadays, it becomes of paramount societal importance to support many frail-prone groups in our society (elderly, patients with neurodegenerative diseases, etc.) to remain socially and physically active, maintain their quality of life, and avoid their loss of autonomy.
Capturing nystagmus in the emergency room: posterior circulation stroke versus acute vestibular neuritis
B. Nham, G. Akdal, A. S. Young, P. Özçelik, T. Tanrıverdizade, R. T. Ala, A. P. Bradshaw, C. Wang, S. Men, B. F. Giarola, D. A. Black, E. O. Thompson, G. M. Halmagyi & M. S. Welgampola
doi : 10.1007/s00415-022-11202-y
To compare acute nystagmus characteristics of posterior circulation stroke (PCS) and acute vestibular neuritis (AVN) in the emergency room (ER) within 24Â h of presentation.
Different approaches to test orientation of self in space: comparison of a 2D pen-and-paper test and a 3D real-world pointing task
J. Gerb, T. Brandt & M. Dieterich
doi : 10.1007/s00415-022-11446-8
Spatial orientation is based on a complex cortical network with input from multiple sensory systems. It is affected by training, sex and age as well as cultural and psychological factors, resulting in different individual skill levels in healthy subjects.
Prevalence, risk factors, and clinical outcomes of remote intracerebral hemorrhage after intravenous thrombolysis in acute ischemic stroke: a systematic review and meta-analysis
Lingling Qiu, Fangwang Fu, Wenyuan Zhang, Jinfeng He, Zhenxiang Zhan & Zicheng Cheng
doi : 10.1007/s00415-022-11414-2
Hemorrhagic transformation (HT) is a common complication of alteplase treatment. However, the prevalence rate, risk factors, and clinical outcomes of remote intracerebral hemorrhage (rICH) after intravenous thrombolysis in acute ischemic stroke are not well understood.
Comparative effect of stenting plus medical therapy vs medical therapy alone on the risk of stroke and death in patients with symptomatic intracranial stenosis: a systematic review and meta-analysis
Xin Wu, Jiaxuan Li, Shixin Wang, Yu Zou, Liyan Tang, Zhouqing Chen, Wei Zhang & Zhong Wang
doi : 10.1007/s00415-022-11429-9
Recently, several randomized controlled trials (RCTs) of stenting plus medical therapy versus medical therapy alone have been successfully conducted for the treatment of patients with symptomatic intracranial stenosis. This study aimed to evaluate differences between these two therapies in the risk of stroke and death.
RCVS: by clinicians for clinicians—a narrative review
Deborah Katharina Erhart, Albert Christian Ludolph & Katharina Althaus
doi : 10.1007/s00415-022-11425-z
Reversible cerebral vasoconstriction syndrome may be underdiagnosed. It can be accompanied by various complications, mainly intracerebral hemorrhage and ischemic stroke. The clinical presentation of this condition varies according to its localization.
Preventive treatment of refractory chronic cluster headache: systematic review and meta-analysis
Javier A. Membrilla, Javier Roa & Javier DÃaz-de-Terán
doi : 10.1007/s00415-022-11436-w
Preventive treatment for refractory chronic cluster headache (rCCH) is challenging and many therapies have been tried.
Effects of physical activity and exercise interventions on Alzheimer’s disease: an umbrella review of existing meta-analyses
Susana López-Ortiz, Simone Lista, Pedro L. Valenzuela, José Pinto-Fraga, Ricardo Carmona, Filippo Caraci, Giuseppe Caruso, Nicola Toschi, Enzo Emanuele, Audrey Gabelle, Robert Nisticò, Francesco Garaci, Alejandro Lucia & Alejandro Santos-Lozano
doi : 10.1007/s00415-022-11454-8
During the last decade, physical activity (PA) (or “exercise�) has been identified as one of the main modifiable factors that influence the development of Alzheimer’s disease (AD) pathophysiology.
A systematic review and meta-analysis exploring the efficacy of mindfulness-based interventions on quality of life in people with multiple sclerosis
Robert Simpson, Stephanie Posa, Laura Langer, Tania Bruno, Sharon Simpson, Maggie Lawrence, Jo Booth, Stewart W. Mercer, Anthony Feinstein & Mark Bayley
doi : 10.1007/s00415-022-11451-x
Quality of life (QoL) is commonly impaired among people with multiple sclerosis (PwMS). The aim of this study was to evaluate via meta-analysis the efficacy of Mindfulness-based interventions (MBIs) for improving QoL in PwMS.
Microbiome–gut–brain dysfunction in prodromal and symptomatic Lewy body diseases
Sephira Ryman, Andrei A. Vakhtin, Sarah Pirio Richardson & Henry C. Lin
doi : 10.1007/s00415-022-11461-9
Lewy body diseases, such as Parkinson’s disease and dementia with Lewy bodies, vary in their clinical phenotype but exhibit the same defining pathological feature, α-synuclein aggregation.
Retina thickness in clinically affected and unaffected eyes in patients with aquaporin-4 immunoglobulin G antibody seropositive neuromyelitis optica spectrum disorders: a systematic review and meta-analysis
Lele Huang, Yujie Wang & Ruijun Zhang
doi : 10.1007/s00415-022-11482-4
Retina thickness has been studied in patients with neuromyelitis optica spectrum disorders (NMOSD) without distinguishing serostatus and limited data are available in unaffected eyes. We aimed to investigate retina thickness in eyes of aquaporin-4 immunoglobulin G antibody seropositive (AQP4-IgG+) NMOSD patients with optic neuritis (AQP4-ON) and without (AQP4-NON).
Isolated transient vertigo due to TIA: challenge for diagnosis and therapy
Kai Yao & Heng-bing Zu
doi : 10.1007/s00415-022-11443-x
As a prevalent vertigo disease in the clinic, isolated transient vertigo can present as a vertigo episode without focal signs and always free of symptoms on presentation.
Locus coeruleus degeneration and cerebellar gray matter changes in essential tremor
Dayao Lv, Cheng Zhou, Jiali Pu, Jinyu Lu, Gaohua Zhao, Luyan Gu, Xiaojun Guan, Tao Guo, Xiaojun Xu, Minming Zhang, Jun Tian, Xinzhen Yin, Baorong Zhang, Guohua Zhao & Yaping Yan
doi : 10.1007/s00415-022-11409-z
The pathophysiology of essential tremor (ET) is not fully understood, and studies suggest pathological changes mainly occur in the cerebellum and locus coeruleus (LC).
Significantly lower antigenicity of incobotulinumtoxin than abo- or onabotulinumtoxin
Harald Hefter, Dietmar Rosenthal, Alexander Jansen, Raphaela Brauns, Beyza Ãœrer, Hans Bigalke, Hans-Peter Hartung, Sven G. Meuth, John-Ih Lee, Philipp Albrecht & Sara Samadzadeh
doi : 10.1007/s00415-022-11395-2
For many indications, BoNT/A is repetitively injected with the risk of developing neutralizing antibodies (NABs). Therefore, it is important to analyze whether there is a difference in antigenicity between the different licensed BoNT/A preparations.
Dystonia management across Europe within ERN-RND: current state and future challenges
Liesanne M. Centen, David Pinter, Martje E. van Egmond, Holm Graessner, Norbert Kovacs, Anne Koy, Belen Perez-Dueñas, Carola Reinhard, Marina A. J. Tijssen & Sylvia Boesch
doi : 10.1007/s00415-022-11412-4
Since the first European-wide evaluation of dystonia management in 2016, several efforts have been made to improve dystonia-care. One of these was the development of the Dystonia Disease Group as a part of the European Reference Network for Rare Neurological Diseases (ERN-RND) that implemented several initiatives based on the recommendations made in 2016.
NODDI, diffusion tensor microstructural abnormalities and atrophy of brain white matter and gray matter contribute to cognitive impairment in multiple sclerosis
Paolo Preziosa, Elisabetta Pagani, Alessandro Meani, Olga Marchesi, Lorenzo Conti, Andrea Falini, Maria A. Rocca & Massimo Filippi
doi : 10.1007/s00415-022-11415-1
Pathologically specific MRI measures may elucidate in-vivo the heterogeneous processes contributing to cognitive impairment in multiple sclerosis (MS).
Somatosensory evoked potentials and magnetic resonance imaging of the central nervous system in early multiple sclerosis
Alexander Wuschek, Matthias Bussas, Malek El Husseini, Laura Harabacz, Viktor Pineker, Viola Pongratz, Achim Berthele, Isabelle Riederer, Claus Zimmer, Bernhard Hemmer, Jan S. Kirschke & Mark Mühlau
doi : 10.1007/s00415-022-11407-1
Somatosensory evoked potentials (SSEP) are still broadly used, although not explicitly recommended, for the diagnostic work-up of suspected multiple sclerosis (MS).
Video augmented mirror therapy for upper extremity rehabilitation after stroke: a randomized controlled trial
Hyunjin Kim, Junghyun Kim, Sungbae Jo, Kyeongjin Lee, Junesun Kim & Changho Song
doi : 10.1007/s00415-022-11410-6
To investigate the effects of mirror therapy using a newly developed video augmented wearable reflection device on reach-to-grasp motor control and upper extremity motor function.
Efficacy and safety of very early mobilization after thrombolysis in acute ischemic stroke: a randomized clinical trial
Jorge Motta Anjos, Mansueto Gomes Neto, Yuri de Araújo Tapparelli, Gayr Tse, Giuseppe Biondi-Zoccai, Yasmin de Souza Lima Bitar, Leonardo Roever & Andre Rodrigues Duraes
doi : 10.1007/s00415-022-11411-5
Stroke has a deleterious impact on human health due to its high incidence, degree of disabling sequelae and mortality, constituting one of the main causes of death and disability worldwide.
The idiopathic intracranial hypertension prospective cohort study: evaluation of prognostic factors and outcomes
Mark Thaller, Victoria Homer, Yousef Hyder, Andreas Yiangou, Anthony Liczkowski, Anthony W. Fong, Jasvir Virdee, Rachel Piccus, Marianne Roque, Susan P. Mollan & Alexandra J. Sinclair
doi : 10.1007/s00415-022-11402-6
There are limited longitudinal data evaluating outcomes in idiopathic intracranial hypertension (IIH). We aimed to evaluate the long-term outcomes in a real-world cohort of patients with IIH and sought to establish the prognostic factors.
Comorbidities and clinical outcomes in adult- and juvenile-onset Huntington’s disease: a study of linked Swedish National Registries (2002–2019)
Hannah Furby, Suzanne Moore, Anna-Lena Nordstroem, Richard Houghton, Dimitra Lambrelli, Sophie Graham, Per Svenningsson & Åsa Petersén
doi : 10.1007/s00415-022-11418-y
Huntington’s disease (HD) is a rare, neurodegenerative disease and its complex motor, cognitive and psychiatric symptoms exert a lifelong clinical burden on both patients and their families.
Factors predicting disease progression in C9ORF72 ALS patients
Jessica Mandrioli, Elisabetta Zucchi, Ilaria Martinelli, Laura Van der Most, Giulia Gianferrari, Cristina Moglia, Umberto Manera, Luca Solero, Rosario Vasta, Antonio Canosa, Maurizio Grassano, Maura Brunetti, Letizia Mazzini, Fabiola De Marchi, Cecilia Simonini, Nicola Fini, Rossella Tupler, Marco Vinceti, Adriano Chiò & Andrea Calvo
doi : 10.1007/s00415-022-11426-y
To unveil clinical features, comorbidities, disease progression and prognostic factors in a population-based cohort of ALS patients carrying C9ORF72 expansion (C9 + ALS).
Thrombolysis in central retinal artery occlusion: a retrospective observational study
Florian Philipp Raber, Florian Vincent Gmeiner, Jens Dreyhaupt, Armin Wolf, Albert Christian Ludolph, Jens Ulrich Werner, Jan Kassubek & Katharina Althaus
doi : 10.1007/s00415-022-11439-7
There is no evidence-based therapy for non-arteritic central retinal artery occlusion (NA-CRAO). Intravenous thrombolysis (IVT) with alteplase in a time window < 4.5 h may lead to a favorable outcome. Purpose of this study was to investigate the feasibility, efficacy and safety of IVT in patients classified as functionally blind.
Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis
Eleonora Colombo, Barbara Poletti, Alessio Maranzano, Silvia Peverelli, Federica Solca, Claudia Colombrita, Silvia Torre, Cinzia Tiloca, Federico Verde, Ruggero Bonetti, Laura Carelli, Claudia Morelli, Antonia Ratti, Vincenzo Silani & Nicola Ticozzi
doi : 10.1007/s00415-022-11433-z
Amyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in the C9orf72 gene (C9Pos) have been described as presenting distinct features compared to the general ALS population (C9Neg). We aim to identify the phenotypic traits more closely associated with the HRE and analyse the role of the repeat length as a modifier factor.
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
Martin Krenn, Merve Sener, Jakob Rath, Gudrun Zulehner, Omar Keritam, Matias Wagner, Franco Laccone, Stephan Iglseder, Sonja Marte, Manuela Baumgartner, Astrid Eisenkölbl, Christian Liechtenstein, Sabine Rudnik, Stefan Quasthoff, Susanne Grinzinger, Johannes Spenger, Saskia B. Wortmann, Wolfgang N. Löscher, Fritz Zimprich, Anna Kellersmann, Mika Rappold, Günther Bernert, Michael Freilinger & Hakan Cetin
doi : 10.1007/s00415-022-11440-0
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted.
Lesion follows function: video-oculography compared with MRI to diagnose internuclear ophthalmoplegia in patients with multiple sclerosis
Rawan Omary, Christopher J. Bockisch, Anthony De Vere-Tyndall, Shila Pazahr, Krisztina Baráth & Konrad P. Weber
doi : 10.1007/s00415-022-11428-w
Video-oculography (VOG) is used to quantify functional deficits in internuclear ophthalmoplegia (INO), whereas MRI can detect the corresponding structural lesions in the medial longitudinal fasciculus (MLF). This study investigates the diagnostic agreement of MRI compared to VOG measurements.
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants
Zhiying Xie, Chengyue Sun, Chang Liu, Zhihao Xie, Luhua Wei, Jiaxi Yu, Chen Ling, Xuejun Guo, Yilin Liu, Meng Yu, Yinglin Leng, Lingchao Meng, Yunchuang Sun, Jianwen Deng, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang & Yun Yuan
doi : 10.1007/s00415-022-11432-0
Phenotypic heterogeneity within or between families with a same deep-intronic splice-altering variant in the DMD gene has never been systematically analyzed. This study aimed to determine the phenotypic and genetic characteristics of patients with deep-intronic DMD variants.
Noisy galvanic vestibular stimulation improves vestibular perception in bilateral vestibulopathy
Max Wuehr, Josefine Eder, Aram Keywan & Klaus Jahn
doi : 10.1007/s00415-022-11438-8
Patients with bilateral vestibulopathy (BVP) suffer from impaired vestibular motion perception that is linked to deficits in spatial memory and navigation.
The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
Holger Hengel, Peter Martus, Jennifer Faber, Paola Giunit, 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
doi : 10.1007/s00415-022-11441-z
Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS.
Brain metabolic differences between pure bulbar and pure spinal ALS: a 2-[18F]FDG-PET study
Antonio Canosa, Alessio Martino, Alessandro Giuliani, Cristina Moglia, Rosario Vasta, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Francesca Di Pede, Filippo De Mattei, Enrico Matteoni, Giulia Polverari, Umberto Manera, Andrea Calvo, Marco Pagani & Adriano Chiò
doi : 10.1007/s00415-022-11445-9
MRI studies reported that ALS patients with bulbar and spinal onset showed focal cortical changes in corresponding regions of the motor homunculus. We evaluated the capability of brain 2-[18F]FDG-PET to disclose the metabolic features characterizing patients with pure bulbar or spinal motor impairment.
Muscle MRI in immune-mediated necrotizing myopathy (IMNM): implications for clinical management and treatment strategies
Laura Fionda, Antonio Lauletta, Luca Leonardi, Jorge Alonso Perez, Stefania Morino, Gioia Merlonghi, Girolamo Alfieri, Rocco Costanzo, Laura Tufano, Fiammetta Vanoli, Elena Rossini, Eduard Gallardo Vigo, Tommaso Tartaglione, Marco Salvetti, Giovanni Antonini, Jordi Diaz-Manera & Matteo Garibaldi
doi : 10.1007/s00415-022-11447-7
Immune-mediated necrotizing myopathy (IMNM) is the most severe idiopathic inflammatory myopathy (IIM) and early aggressive poly-immunotherapy is often required to reduce long-term disability.
Drugs associated with posterior reversible encephalopathy syndrome, a worldwide signal detection study
Alexander Balcerac, Kevin Bihan, Dimitri Psimaras, Bénédicte Lebrun-Vignes, Joe-Elie Salem & Nicolas Weiss
doi : 10.1007/s00415-022-11450-y
Posterior reversible encephalopathy syndrome (PRES) can occur in a variety of clinical conditions, such as severe hypertension, pregnancy, inflammatory diseases, hematopoietic stem cells or solid organ transplantation.
OnabotulinumtoxinA in elderly patients with chronic migraine: insights from a real-life European multicenter study
Claudia Altamura, R. Ornello, F. Ahmed, A. Negro, A. M. Miscio, A. Santoro, A. Alpuente, A. Russo, M. Silvestro, S. Cevoli, N. Brunelli, L. Grazzi, C. Baraldi, S. Guerzoni, A. P. Andreou, G. Lambru, I. Frattale, K. Kamm, R. Ruscheweyh, M. Russo, P. Torelli, E. Filatova, N. Latysheva, A. Gryglas-Dworak, M. Straburzynski, C. Butera, B. Colombo, M. Filippi, P. Pozo-Rosich, P. Martelletti, S. Sacco & F. Vernieri
doi : 10.1007/s00415-022-11457-5
Although migraine prevalence decreases with aging, some older patients still suffer from chronic migraine (CM). This study aimed to investigate the outcome of OnabotulinumtoxinA (OBT-A) as preventative therapy in elderly CM patients.
Effect of transcutaneous auricular vagus nerve stimulation on post-stroke dysphagia
Ying Wang, Yingxi He, Linlin Jiang, Xiaoxu Chen, Fengjiao Zou, Ying Yin, Jiani Li, Changqing Li, Guifang Zhang, Jingxi Ma & Lingchuan Niu
doi : 10.1007/s00415-022-11465-5
It has been proved that electrical vagus nerve stimulation can promote the recovery of motor function after stroke. There were no trials on the use of transcutaneous auricular electrical vagus nerve stimulation (ta-VNS) in patients with dysphagia after acute stroke. Our aim was to confirm whether ta-VNS can promote the recovery of swallowing function in these acute stroke patients with dysphagia.
Clinical and paraclinical features of small fiber neuropathy in Sjögren’s syndrome
Tabea Seeliger, Henrike Neelke Dreyer, Janna Margaretha Siemer, Lena Bönig, Stefan Gingele, Maike Franziska Dohrn, Nils Prenzler, Diana Ernst, Torsten Witte & Thomas Skripuletz
doi : 10.1007/s00415-022-11431-1
Sjögren’s syndrome is a potentially treatable cause of Small Fiber Neuropathy (SFN)—a condition that severely affects patients’ quality of life. We therefore aimed to characterize patients with SFN and Sjögren’s syndrome to raise awareness of this disease and facilitate its early recognition as an essential step for appropriate treatment
Health-related quality of life in Japanese patients with multiple sclerosis
Masaaki Niino, Shoko Fukumoto, Tatsusada Okuno, Nobuo Sanjo, Hikoaki Fukaura, Masahiro Mori, Takashi Ohashi, Hideyuki Takeuchi, Yuko Shimizu, Juichi Fujimori, Izumi Kawachi, Jun-ichi Kira, Eri Takahashi, Yusei Miyazaki & Nobuhiro Mifune
doi : 10.1007/s00415-022-11453-9
Neurological disabilities, especially physical issues, can adversely affect the daily lives of people with multiple sclerosis (MS) and negatively impact their health-related quality of life (HRQOL).
Neuropsychological assessment through Coma Recovery Scale-Revised and Coma/Near Coma Scale in a sample of pediatric patients with disorder of consciousness
Susanna Frigerio, Erika Molteni, Katia Colombo, Valentina Pastore, Claudia Fedeli, Susanna Galbiati & Sandra Strazzer
doi : 10.1007/s00415-022-11456-6
The Coma Recovery Scale-Revised (CRS-R) has become a standard tool in assessing Disorders of consciousness (DoC) in adults. However, its measurement validity in pediatrics has only been ascertained in healthy cases.
Vitamin D genetic risk scores in multiple sclerosis
Ashvin Kuri, Nicola Vickaryous, Amine Awad, Benjamin Meir Jacobs & Ruth Dobson
doi : 10.1007/s00415-022-11466-4
Low serum 25(OH)D3 (vD) is an environmental risk factor for multiple sclerosis (MS). Lower vD levels during early disease may be associated with long-term disability. Determinants of serum vD levels in healthy individuals include supplementation behaviour and genetic factors. These determinants have been less well studied in people with MS (pwMS).
Sporadic Creutzfeldt–Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance
Johnny Tam, John Centola, Hatice Kurudzhu, Neil Watson, Janet MacKenzie, Margaret Leitch, Terri Hughes, Alison Green, David Summers, Marcelo Barria, Colin Smith & Suvankar Pal
doi : 10.1007/s00415-022-11467-3
Sporadic Creutzfeldt–Jakob Disease (sCJD) is the commonest human prion disease, with a median age of onset of 68 years. We characterise the clinical, investigation, and neuropathological features in young individuals with sCJD using data from UK national CJD surveillance.
Resting-state functional MRI in multicenter studies on multiple sclerosis: a report on raw data quality and functional connectivity features from the Italian Neuroimaging Network Initiative
Alessandro Pasquale De Rosa, Fabrizio Esposito, Paola Valsasina, Alessandro d’Ambrosio, Alvino Bisecco, Maria A. Rocca, Silvia Tommasin, Chiara Marzi, Nicola De Stefano, Marco Battaglini, Patrizia Pantano, Mario Cirillo, Gioacchino Tedeschi, Massimo Filippi, Antonio Gallo & the INNI Network
doi : 10.1007/s00415-022-11479-z
The Italian Neuroimaging Network Initiative (INNI) is an expanding repository of brain MRI data from multiple sclerosis (MS) patients recruited at four Italian MRI research sites. We describe the raw data quality of resting-state functional MRI (RS-fMRI) time-series in INNI and the inter-site variability in functional connectivity (FC) features after unified automated data preprocessing.
Diplopia: characteristics and etiologic distribution in a referral-based university hospital
Hyun-Jae Kim, Hyo-Jung Kim, Jeong-Yoon Choi, Hee Kyung Yang, Jeong-Min Hwang & Ji-Soo Kim
doi : 10.1007/s00415-022-11471-7
The etiologic distribution and clinical features of diplopia may differ according to the specialties involved in the management. This study aimed to establish the clinical features and underlying etiologies of diplopia by recruiting patients from all departments.
Development and external validation of multivariable risk models to predict incident and resolved neuropathic pain: a DOLORisk Dundee study
Harry L. Hébert, Abirami Veluchamy, Georgios Baskozos, Francesca Fardo, Dimitri Van Ryckeghem, Ewan R. Pearson, Lesley A. Colvin, Geert Crombez, David L. H. Bennett, Weihua Meng, Colin N. A. Palmer & Blair H. Smith
doi : 10.1007/s00415-022-11478-0
Neuropathic pain is difficult to treat, and an understanding of the risk factors for its onset and resolution is warranted. This study aimed to develop and externally validate two clinical risk models to predict onset and resolution of chronic neuropathic pain.
Communicating the relevance of neurodegeneration and brain atrophy to multiple sclerosis patients: patient, provider and researcher perspectives
Penny Pennington, Bianca Weinstock-Guttman, Channa Kolb, Dejan Jakimovski, Katherine Sacca, Ralph H. B. Benedict, Svetlana Eckert, Marc Stecker, Alexis Lizarraga, Michael G. Dwyer, Carol B. Schumacher, Niels Bergsland, Patricia Picco, Evanthia Bernitsas, Rana Zabad, Gabriel Pardo, Donald Negroski, Martin Belkin, David Hojnacki & Robert Zivadinov
doi : 10.1007/s00415-022-11405-3
Central nervous system (CNS) atrophy provides valuable additional evidence of an ongoing neurodegeneration independent of lesion accrual in persons with multiple sclerosis (PwMS). However, there are limitations for interpretation of CNS volume changes at individual patient-level.
Correction to: Communicating the relevance of neurodegeneration and brain atrophy to multiple sclerosis patients: patient, provider and researcher perspectives
Penny Pennington, Bianca Weinstock-Guttman, Channa Kolb, Dejan Jakimovski, Katherine Sacca, Ralph H. B. Benedict, Svetlana Eckert, Marc Stecker, Alexis Lizarraga, Michael G. Dwyer, Carol B. Schumacher, Niels Bergsland, Patricia Picco, Evanthia Bernitsas, Rana Zabad, Gabriel Pardo, Donald Negroski, Martin Belkin, David Hojnacki & Robert Zivadinov
Brain structural abnormalities and cognitive changes in a patient with 17q21.31 microduplication and early onset dementia: a case report
Michela Leocadi, Elisa Canu, Camilla Cividini, Tommaso Russo, Giordano Cecchetti, Claudia Celico, Rosalinda Cardamone, Valeria Barcella, Giuseppe Magnani, Federica Agosta & Massimo Filippi
doi : 10.1007/s00415-022-11423-1
We describe brain structural damage and cognitive profile evolution of an adult patient with 17q21.31 microduplication, a rare condition associated with psychomotor delay, behavioural disturbances and poor social interaction.
Peripapillary hyper-reflective ovoid mass-like structures (PHOMS) in AQP4-IgG-positive neuromyelitis optica spectrum disease (NMOSD) and MOG-IgG-associated disease (MOGAD)
Jonathan A. Gernert, Rebecca Wicklein, Bernhard Hemmer, Tania Kümpfel, Benjamin Knier & Joachim Havla
doi : 10.1007/s00415-022-11381-8
Peripapillary hyperreflective ovoid mass-like structures (PHOMS) have recently been described as new optical coherence tomography (OCT) marker. It is not yet clear whether the occurrence of PHOMS is disease-specific or disease-spanning.
Functional neurological symptoms as initial presentation of Creutzfeldt-Jakob disease: case series
VÃctor Gómez-Mayordomo, Maja Kojović, Eva López-Valdés, Fernando Alonso-Frech, Alejandro Horga, Rebeca Fernández-RodrÃguez & Isabel Pareés
doi : 10.1007/s00415-022-11376-5
Functional Neurological Disorders (FND) are common in clinical practice. It is recognized that FND may present at onset or during the course of other neurological diseases (functional comorbidity).
Adult motor neuron disease death rates in Finland 1998–2019
Jussi O. T. Sipilä & Manu Jokela
MicroRNAs 181a and 125a are highly expressed in naïve RRMS: a pilot case–control study
Emanuele D’Amico, Aurora Zanghì, Virginia Manuti, Caterina Allegretta, Antonella Amoruso, Gaetano Serviddio & Carlo Avolio
Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report
Rachael L. Taylor, Tonci Antunovich, Thomas Ming Hong Chang, Miriam Rodrigues, Ashleigh Baker, Peter Bergin, Ben McGuinness & Richard H. Roxburgh
Counteraction of inflammatory activity in CAA-related subarachnoid hemorrhage
Stefanie Schreiber, Anna-Charlotte John, Cornelius J. Werner, Stefan Vielhaber, Hans-Jochen Heinze, Oliver Speck, Jens Würfel, Daniel Behme & Hendrik Mattern
A systematic review of local field potential physiomarkers in Parkinson’s disease: from clinical correlations to adaptive deep brain stimulation algorithms
Bernadette C. M. van Wijk, Rob M. A. de Bie & Martijn Beudel
doi : 10.1007/s00415-022-11388-1
Deep brain stimulation (DBS) treatment has proven effective in suppressing symptoms of rigidity, bradykinesia, and tremor in Parkinson’s disease. Still, patients may suffer from disabling fluctuations in motor and non-motor symptom severity during the day.
Optical coherence tomography as a prognostic tool for disability progression in MS: a systematic review
Stijn Swinnen, Dries De Wit, Liesbeth Van Cleemput, Catherine Cassiman & Bénédicte Dubois
doi : 10.1007/s00415-022-11474-4
Since multiple sclerosis (MS) is characterized by an unpredictable disease course, accurate prognosis and personalized treatment constitute an important challenge in clinical practice.
Amyotrophic lateral sclerosis: an update on treatments from clinical trials
Ray Wynford-Thomas & Neil P. Robertson
William Bevan-Lewis (1847–1929)
Andrew J. Larner & Lazaros C. Triarhou
Gustaw Bikeles (1861–1918)
Slawomir Gonkowski & Oksana Zayachkivska
Natalizumab wearing-off symptoms: effect of extend interval dosing during Sars-CoV-2 pandemic
Giuseppe Magro, Stefania Barone, Federico Tosto, Antonio De Martino, Domenico Santange lo, Lucia Manzo, Angelo Pascarella, Pietro Bruno, Marilisa Pasquale, Antonio Gambardella & Paola Valentino
doi : 10.1007/s00415-022-11408-0
Volume 270, issue 2, February 2023
Many patients treated with Natalizumab experience wearing-off symptoms (WoS) towards the end of the administration cycle. During the pandemic we advised and asked patients undergoing treatment with Natalizumab if they wanted to be shifted from a standard interval dosing (StID of 4 weeks) to an extended interval dosing (ExID of 5–6 weeks), regardless of their JCV index. Our main objective was to study prevalence and incidence of WoS when ExID was adopted.
New-onset Myasthenia Gravis after SARS-CoV-2 infection: case report and literature review
Yan Tereshko, Gian Luigi Gigli, Sara Pez, Alessandro De Pellegrin & Mariarosaria Valente
doi : 10.1007/s00415-022-11472-6
We report the case of a 19-year-old female patient who developed Myasthenia Gravis 13Â days after SARS-CoV-2 infection with positive RT-PCR testing. Her symptoms initially involved the oculo-bulbar district, but they gradually worsened in 3Â months converting into a generalized form of Myasthenia Gravis complicated with a myasthenic crisis.
SARS-CoV-2 in patients with Friedreich ataxia
Megan M. Shen, Layne N. Rodden, Kellie McIntyre, Adriana Arias, Victoria Profeta, Kimberly Schadt & David R. Lynch
doi : 10.1007/s00415-022-11419-x
The global spread of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has drawn attention to the relationship between chronic underlying conditions and complications of coronavirus disease 2019 (COVID-19).
New onset of Susac syndrome after mRNA COVID-19 vaccine: a case report
Assunta Bianco, Francesca Colò, Silvia Falso, Rosellina Russo, Matteo Maria Carlà , Angelo Minucci, Gabriella Cadoni, Matteo Lucchini, Alessandra Cicia, Paolo Calabresi & Massimiliano Mirabella
Preventing falls: the use of machine learning for the prediction of future falls in individuals without history of fall
Ioannis Bargiotas, Danping Wang, Juan Mantilla, Flavien Quijoux, Albane Moreau, Catherine Vidal, Remi Barrois, Alice Nicolai, Julien Audiffren, Christophe Labourdette, François Bertin�Hugaul, Laurent Oudre, Stephane Buffat, Alain Yelnik, Damien Ricard, Nicolas Vayatis & Pierre-Paul Vidal
doi : 10.1007/s00415-022-11251-3
Nowadays, it becomes of paramount societal importance to support many frail-prone groups in our society (elderly, patients with neurodegenerative diseases, etc.) to remain socially and physically active, maintain their quality of life, and avoid their loss of autonomy.
Capturing nystagmus in the emergency room: posterior circulation stroke versus acute vestibular neuritis
B. Nham, G. Akdal, A. S. Young, P. Özçelik, T. Tanrıverdizade, R. T. Ala, A. P. Bradshaw, C. Wang, S. Men, B. F. Giarola, D. A. Black, E. O. Thompson, G. M. Halmagyi & M. S. Welgampola
doi : 10.1007/s00415-022-11202-y
To compare acute nystagmus characteristics of posterior circulation stroke (PCS) and acute vestibular neuritis (AVN) in the emergency room (ER) within 24Â h of presentation.
Different approaches to test orientation of self in space: comparison of a 2D pen-and-paper test and a 3D real-world pointing task
J. Gerb, T. Brandt & M. Dieterich
doi : 10.1007/s00415-022-11446-8
Spatial orientation is based on a complex cortical network with input from multiple sensory systems. It is affected by training, sex and age as well as cultural and psychological factors, resulting in different individual skill levels in healthy subjects.
Prevalence, risk factors, and clinical outcomes of remote intracerebral hemorrhage after intravenous thrombolysis in acute ischemic stroke: a systematic review and meta-analysis
Lingling Qiu, Fangwang Fu, Wenyuan Zhang, Jinfeng He, Zhenxiang Zhan & Zicheng Cheng
doi : 10.1007/s00415-022-11414-2
Hemorrhagic transformation (HT) is a common complication of alteplase treatment. However, the prevalence rate, risk factors, and clinical outcomes of remote intracerebral hemorrhage (rICH) after intravenous thrombolysis in acute ischemic stroke are not well understood.
Comparative effect of stenting plus medical therapy vs medical therapy alone on the risk of stroke and death in patients with symptomatic intracranial stenosis: a systematic review and meta-analysis
Xin Wu, Jiaxuan Li, Shixin Wang, Yu Zou, Liyan Tang, Zhouqing Chen, Wei Zhang & Zhong Wang
doi : 10.1007/s00415-022-11429-9
Recently, several randomized controlled trials (RCTs) of stenting plus medical therapy versus medical therapy alone have been successfully conducted for the treatment of patients with symptomatic intracranial stenosis. This study aimed to evaluate differences between these two therapies in the risk of stroke and death.
RCVS: by clinicians for clinicians—a narrative review
Deborah Katharina Erhart, Albert Christian Ludolph & Katharina Althaus
doi : 10.1007/s00415-022-11425-z
Reversible cerebral vasoconstriction syndrome may be underdiagnosed. It can be accompanied by various complications, mainly intracerebral hemorrhage and ischemic stroke. The clinical presentation of this condition varies according to its localization.
Preventive treatment of refractory chronic cluster headache: systematic review and meta-analysis
Javier A. Membrilla, Javier Roa & Javier DÃaz-de-Terán
doi : 10.1007/s00415-022-11436-w
Preventive treatment for refractory chronic cluster headache (rCCH) is challenging and many therapies have been tried.
Effects of physical activity and exercise interventions on Alzheimer’s disease: an umbrella review of existing meta-analyses
Susana López-Ortiz, Simone Lista, Pedro L. Valenzuela, José Pinto-Fraga, Ricardo Carmona, Filippo Caraci, Giuseppe Caruso, Nicola Toschi, Enzo Emanuele, Audrey Gabelle, Robert Nisticò, Francesco Garaci, Alejandro Lucia & Alejandro Santos-Lozano
doi : 10.1007/s00415-022-11454-8
During the last decade, physical activity (PA) (or “exercise�) has been identified as one of the main modifiable factors that influence the development of Alzheimer’s disease (AD) pathophysiology.
A systematic review and meta-analysis exploring the efficacy of mindfulness-based interventions on quality of life in people with multiple sclerosis
Robert Simpson, Stephanie Posa, Laura Langer, Tania Bruno, Sharon Simpson, Maggie Lawrence, Jo Booth, Stewart W. Mercer, Anthony Feinstein & Mark Bayley
doi : 10.1007/s00415-022-11451-x
Quality of life (QoL) is commonly impaired among people with multiple sclerosis (PwMS). The aim of this study was to evaluate via meta-analysis the efficacy of Mindfulness-based interventions (MBIs) for improving QoL in PwMS.
Microbiome–gut–brain dysfunction in prodromal and symptomatic Lewy body diseases
Sephira Ryman, Andrei A. Vakhtin, Sarah Pirio Richardson & Henry C. Lin
doi : 10.1007/s00415-022-11461-9
Lewy body diseases, such as Parkinson’s disease and dementia with Lewy bodies, vary in their clinical phenotype but exhibit the same defining pathological feature, α-synuclein aggregation.
Retina thickness in clinically affected and unaffected eyes in patients with aquaporin-4 immunoglobulin G antibody seropositive neuromyelitis optica spectrum disorders: a systematic review and meta-analysis
Lele Huang, Yujie Wang & Ruijun Zhang
doi : 10.1007/s00415-022-11482-4
Retina thickness has been studied in patients with neuromyelitis optica spectrum disorders (NMOSD) without distinguishing serostatus and limited data are available in unaffected eyes. We aimed to investigate retina thickness in eyes of aquaporin-4 immunoglobulin G antibody seropositive (AQP4-IgG+) NMOSD patients with optic neuritis (AQP4-ON) and without (AQP4-NON).
Isolated transient vertigo due to TIA: challenge for diagnosis and therapy
Kai Yao & Heng-bing Zu
doi : 10.1007/s00415-022-11443-x
As a prevalent vertigo disease in the clinic, isolated transient vertigo can present as a vertigo episode without focal signs and always free of symptoms on presentation.
Locus coeruleus degeneration and cerebellar gray matter changes in essential tremor
Dayao Lv, Cheng Zhou, Jiali Pu, Jinyu Lu, Gaohua Zhao, Luyan Gu, Xiaojun Guan, Tao Guo, Xiaojun Xu, Minming Zhang, Jun Tian, Xinzhen Yin, Baorong Zhang, Guohua Zhao & Yaping Yan
doi : 10.1007/s00415-022-11409-z
The pathophysiology of essential tremor (ET) is not fully understood, and studies suggest pathological changes mainly occur in the cerebellum and locus coeruleus (LC).
Significantly lower antigenicity of incobotulinumtoxin than abo- or onabotulinumtoxin
Harald Hefter, Dietmar Rosenthal, Alexander Jansen, Raphaela Brauns, Beyza Ãœrer, Hans Bigalke, Hans-Peter Hartung, Sven G. Meuth, John-Ih Lee, Philipp Albrecht & Sara Samadzadeh
doi : 10.1007/s00415-022-11395-2
For many indications, BoNT/A is repetitively injected with the risk of developing neutralizing antibodies (NABs). Therefore, it is important to analyze whether there is a difference in antigenicity between the different licensed BoNT/A preparations.
Dystonia management across Europe within ERN-RND: current state and future challenges
Liesanne M. Centen, David Pinter, Martje E. van Egmond, Holm Graessner, Norbert Kovacs, Anne Koy, Belen Perez-Dueñas, Carola Reinhard, Marina A. J. Tijssen & Sylvia Boesch
doi : 10.1007/s00415-022-11412-4
Since the first European-wide evaluation of dystonia management in 2016, several efforts have been made to improve dystonia-care. One of these was the development of the Dystonia Disease Group as a part of the European Reference Network for Rare Neurological Diseases (ERN-RND) that implemented several initiatives based on the recommendations made in 2016.
NODDI, diffusion tensor microstructural abnormalities and atrophy of brain white matter and gray matter contribute to cognitive impairment in multiple sclerosis
Paolo Preziosa, Elisabetta Pagani, Alessandro Meani, Olga Marchesi, Lorenzo Conti, Andrea Falini, Maria A. Rocca & Massimo Filippi
doi : 10.1007/s00415-022-11415-1
Pathologically specific MRI measures may elucidate in-vivo the heterogeneous processes contributing to cognitive impairment in multiple sclerosis (MS).
Somatosensory evoked potentials and magnetic resonance imaging of the central nervous system in early multiple sclerosis
Alexander Wuschek, Matthias Bussas, Malek El Husseini, Laura Harabacz, Viktor Pineker, Viola Pongratz, Achim Berthele, Isabelle Riederer, Claus Zimmer, Bernhard Hemmer, Jan S. Kirschke & Mark Mühlau
doi : 10.1007/s00415-022-11407-1
Somatosensory evoked potentials (SSEP) are still broadly used, although not explicitly recommended, for the diagnostic work-up of suspected multiple sclerosis (MS).
Video augmented mirror therapy for upper extremity rehabilitation after stroke: a randomized controlled trial
Hyunjin Kim, Junghyun Kim, Sungbae Jo, Kyeongjin Lee, Junesun Kim & Changho Song
doi : 10.1007/s00415-022-11410-6
To investigate the effects of mirror therapy using a newly developed video augmented wearable reflection device on reach-to-grasp motor control and upper extremity motor function.
Efficacy and safety of very early mobilization after thrombolysis in acute ischemic stroke: a randomized clinical trial
Jorge Motta Anjos, Mansueto Gomes Neto, Yuri de Araújo Tapparelli, Gayr Tse, Giuseppe Biondi-Zoccai, Yasmin de Souza Lima Bitar, Leonardo Roever & Andre Rodrigues Duraes
doi : 10.1007/s00415-022-11411-5
Stroke has a deleterious impact on human health due to its high incidence, degree of disabling sequelae and mortality, constituting one of the main causes of death and disability worldwide.
The idiopathic intracranial hypertension prospective cohort study: evaluation of prognostic factors and outcomes
Mark Thaller, Victoria Homer, Yousef Hyder, Andreas Yiangou, Anthony Liczkowski, Anthony W. Fong, Jasvir Virdee, Rachel Piccus, Marianne Roque, Susan P. Mollan & Alexandra J. Sinclair
doi : 10.1007/s00415-022-11402-6
There are limited longitudinal data evaluating outcomes in idiopathic intracranial hypertension (IIH). We aimed to evaluate the long-term outcomes in a real-world cohort of patients with IIH and sought to establish the prognostic factors.
Comorbidities and clinical outcomes in adult- and juvenile-onset Huntington’s disease: a study of linked Swedish National Registries (2002–2019)
Hannah Furby, Suzanne Moore, Anna-Lena Nordstroem, Richard Houghton, Dimitra Lambrelli, Sophie Graham, Per Svenningsson & Åsa Petersén
doi : 10.1007/s00415-022-11418-y
Huntington’s disease (HD) is a rare, neurodegenerative disease and its complex motor, cognitive and psychiatric symptoms exert a lifelong clinical burden on both patients and their families.
Factors predicting disease progression in C9ORF72 ALS patients
Jessica Mandrioli, Elisabetta Zucchi, Ilaria Martinelli, Laura Van der Most, Giulia Gianferrari, Cristina Moglia, Umberto Manera, Luca Solero, Rosario Vasta, Antonio Canosa, Maurizio Grassano, Maura Brunetti, Letizia Mazzini, Fabiola De Marchi, Cecilia Simonini, Nicola Fini, Rossella Tupler, Marco Vinceti, Adriano Chiò & Andrea Calvo
doi : 10.1007/s00415-022-11426-y
To unveil clinical features, comorbidities, disease progression and prognostic factors in a population-based cohort of ALS patients carrying C9ORF72 expansion (C9 + ALS).
Thrombolysis in central retinal artery occlusion: a retrospective observational study
Florian Philipp Raber, Florian Vincent Gmeiner, Jens Dreyhaupt, Armin Wolf, Albert Christian Ludolph, Jens Ulrich Werner, Jan Kassubek & Katharina Althaus
doi : 10.1007/s00415-022-11439-7
There is no evidence-based therapy for non-arteritic central retinal artery occlusion (NA-CRAO). Intravenous thrombolysis (IVT) with alteplase in a time window < 4.5 h may lead to a favorable outcome. Purpose of this study was to investigate the feasibility, efficacy and safety of IVT in patients classified as functionally blind.
Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis
Eleonora Colombo, Barbara Poletti, Alessio Maranzano, Silvia Peverelli, Federica Solca, Claudia Colombrita, Silvia Torre, Cinzia Tiloca, Federico Verde, Ruggero Bonetti, Laura Carelli, Claudia Morelli, Antonia Ratti, Vincenzo Silani & Nicola Ticozzi
doi : 10.1007/s00415-022-11433-z
Amyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in the C9orf72 gene (C9Pos) have been described as presenting distinct features compared to the general ALS population (C9Neg). We aim to identify the phenotypic traits more closely associated with the HRE and analyse the role of the repeat length as a modifier factor.
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
Martin Krenn, Merve Sener, Jakob Rath, Gudrun Zulehner, Omar Keritam, Matias Wagner, Franco Laccone, Stephan Iglseder, Sonja Marte, Manuela Baumgartner, Astrid Eisenkölbl, Christian Liechtenstein, Sabine Rudnik, Stefan Quasthoff, Susanne Grinzinger, Johannes Spenger, Saskia B. Wortmann, Wolfgang N. Löscher, Fritz Zimprich, Anna Kellersmann, Mika Rappold, Günther Bernert, Michael Freilinger & Hakan Cetin
doi : 10.1007/s00415-022-11440-0
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted.
Lesion follows function: video-oculography compared with MRI to diagnose internuclear ophthalmoplegia in patients with multiple sclerosis
Rawan Omary, Christopher J. Bockisch, Anthony De Vere-Tyndall, Shila Pazahr, Krisztina Baráth & Konrad P. Weber
doi : 10.1007/s00415-022-11428-w
Video-oculography (VOG) is used to quantify functional deficits in internuclear ophthalmoplegia (INO), whereas MRI can detect the corresponding structural lesions in the medial longitudinal fasciculus (MLF). This study investigates the diagnostic agreement of MRI compared to VOG measurements.
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants
Zhiying Xie, Chengyue Sun, Chang Liu, Zhihao Xie, Luhua Wei, Jiaxi Yu, Chen Ling, Xuejun Guo, Yilin Liu, Meng Yu, Yinglin Leng, Lingchao Meng, Yunchuang Sun, Jianwen Deng, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang & Yun Yuan
doi : 10.1007/s00415-022-11432-0
Phenotypic heterogeneity within or between families with a same deep-intronic splice-altering variant in the DMD gene has never been systematically analyzed. This study aimed to determine the phenotypic and genetic characteristics of patients with deep-intronic DMD variants.
Noisy galvanic vestibular stimulation improves vestibular perception in bilateral vestibulopathy
Max Wuehr, Josefine Eder, Aram Keywan & Klaus Jahn
doi : 10.1007/s00415-022-11438-8
Patients with bilateral vestibulopathy (BVP) suffer from impaired vestibular motion perception that is linked to deficits in spatial memory and navigation.
The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
Holger Hengel, Peter Martus, Jennifer Faber, Paola Giunit, 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
doi : 10.1007/s00415-022-11441-z
Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS.
Brain metabolic differences between pure bulbar and pure spinal ALS: a 2-[18F]FDG-PET study
Antonio Canosa, Alessio Martino, Alessandro Giuliani, Cristina Moglia, Rosario Vasta, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Francesca Di Pede, Filippo De Mattei, Enrico Matteoni, Giulia Polverari, Umberto Manera, Andrea Calvo, Marco Pagani & Adriano Chiò
doi : 10.1007/s00415-022-11445-9
MRI studies reported that ALS patients with bulbar and spinal onset showed focal cortical changes in corresponding regions of the motor homunculus. We evaluated the capability of brain 2-[18F]FDG-PET to disclose the metabolic features characterizing patients with pure bulbar or spinal motor impairment.
Muscle MRI in immune-mediated necrotizing myopathy (IMNM): implications for clinical management and treatment strategies
Laura Fionda, Antonio Lauletta, Luca Leonardi, Jorge Alonso Perez, Stefania Morino, Gioia Merlonghi, Girolamo Alfieri, Rocco Costanzo, Laura Tufano, Fiammetta Vanoli, Elena Rossini, Eduard Gallardo Vigo, Tommaso Tartaglione, Marco Salvetti, Giovanni Antonini, Jordi Diaz-Manera & Matteo Garibaldi
doi : 10.1007/s00415-022-11447-7
Immune-mediated necrotizing myopathy (IMNM) is the most severe idiopathic inflammatory myopathy (IIM) and early aggressive poly-immunotherapy is often required to reduce long-term disability.
Drugs associated with posterior reversible encephalopathy syndrome, a worldwide signal detection study
Alexander Balcerac, Kevin Bihan, Dimitri Psimaras, Bénédicte Lebrun-Vignes, Joe-Elie Salem & Nicolas Weiss
doi : 10.1007/s00415-022-11450-y
Posterior reversible encephalopathy syndrome (PRES) can occur in a variety of clinical conditions, such as severe hypertension, pregnancy, inflammatory diseases, hematopoietic stem cells or solid organ transplantation.
OnabotulinumtoxinA in elderly patients with chronic migraine: insights from a real-life European multicenter study
Claudia Altamura, R. Ornello, F. Ahmed, A. Negro, A. M. Miscio, A. Santoro, A. Alpuente, A. Russo, M. Silvestro, S. Cevoli, N. Brunelli, L. Grazzi, C. Baraldi, S. Guerzoni, A. P. Andreou, G. Lambru, I. Frattale, K. Kamm, R. Ruscheweyh, M. Russo, P. Torelli, E. Filatova, N. Latysheva, A. Gryglas-Dworak, M. Straburzynski, C. Butera, B. Colombo, M. Filippi, P. Pozo-Rosich, P. Martelletti, S. Sacco & F. Vernieri
doi : 10.1007/s00415-022-11457-5
Although migraine prevalence decreases with aging, some older patients still suffer from chronic migraine (CM). This study aimed to investigate the outcome of OnabotulinumtoxinA (OBT-A) as preventative therapy in elderly CM patients.
Effect of transcutaneous auricular vagus nerve stimulation on post-stroke dysphagia
Ying Wang, Yingxi He, Linlin Jiang, Xiaoxu Chen, Fengjiao Zou, Ying Yin, Jiani Li, Changqing Li, Guifang Zhang, Jingxi Ma & Lingchuan Niu
doi : 10.1007/s00415-022-11465-5
It has been proved that electrical vagus nerve stimulation can promote the recovery of motor function after stroke. There were no trials on the use of transcutaneous auricular electrical vagus nerve stimulation (ta-VNS) in patients with dysphagia after acute stroke. Our aim was to confirm whether ta-VNS can promote the recovery of swallowing function in these acute stroke patients with dysphagia.
Clinical and paraclinical features of small fiber neuropathy in Sjögren’s syndrome
Tabea Seeliger, Henrike Neelke Dreyer, Janna Margaretha Siemer, Lena Bönig, Stefan Gingele, Maike Franziska Dohrn, Nils Prenzler, Diana Ernst, Torsten Witte & Thomas Skripuletz
doi : 10.1007/s00415-022-11431-1
Sjögren’s syndrome is a potentially treatable cause of Small Fiber Neuropathy (SFN)—a condition that severely affects patients’ quality of life. We therefore aimed to characterize patients with SFN and Sjögren’s syndrome to raise awareness of this disease and facilitate its early recognition as an essential step for appropriate treatment
Health-related quality of life in Japanese patients with multiple sclerosis
Masaaki Niino, Shoko Fukumoto, Tatsusada Okuno, Nobuo Sanjo, Hikoaki Fukaura, Masahiro Mori, Takashi Ohashi, Hideyuki Takeuchi, Yuko Shimizu, Juichi Fujimori, Izumi Kawachi, Jun-ichi Kira, Eri Takahashi, Yusei Miyazaki & Nobuhiro Mifune
doi : 10.1007/s00415-022-11453-9
Neurological disabilities, especially physical issues, can adversely affect the daily lives of people with multiple sclerosis (MS) and negatively impact their health-related quality of life (HRQOL).
Neuropsychological assessment through Coma Recovery Scale-Revised and Coma/Near Coma Scale in a sample of pediatric patients with disorder of consciousness
Susanna Frigerio, Erika Molteni, Katia Colombo, Valentina Pastore, Claudia Fedeli, Susanna Galbiati & Sandra Strazzer
doi : 10.1007/s00415-022-11456-6
The Coma Recovery Scale-Revised (CRS-R) has become a standard tool in assessing Disorders of consciousness (DoC) in adults. However, its measurement validity in pediatrics has only been ascertained in healthy cases.
Vitamin D genetic risk scores in multiple sclerosis
Ashvin Kuri, Nicola Vickaryous, Amine Awad, Benjamin Meir Jacobs & Ruth Dobson
doi : 10.1007/s00415-022-11466-4
Low serum 25(OH)D3 (vD) is an environmental risk factor for multiple sclerosis (MS). Lower vD levels during early disease may be associated with long-term disability. Determinants of serum vD levels in healthy individuals include supplementation behaviour and genetic factors. These determinants have been less well studied in people with MS (pwMS).
Sporadic Creutzfeldt–Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance
Johnny Tam, John Centola, Hatice Kurudzhu, Neil Watson, Janet MacKenzie, Margaret Leitch, Terri Hughes, Alison Green, David Summers, Marcelo Barria, Colin Smith & Suvankar Pal
doi : 10.1007/s00415-022-11467-3
Sporadic Creutzfeldt–Jakob Disease (sCJD) is the commonest human prion disease, with a median age of onset of 68 years. We characterise the clinical, investigation, and neuropathological features in young individuals with sCJD using data from UK national CJD surveillance.
Resting-state functional MRI in multicenter studies on multiple sclerosis: a report on raw data quality and functional connectivity features from the Italian Neuroimaging Network Initiative
Alessandro Pasquale De Rosa, Fabrizio Esposito, Paola Valsasina, Alessandro d’Ambrosio, Alvino Bisecco, Maria A. Rocca, Silvia Tommasin, Chiara Marzi, Nicola De Stefano, Marco Battaglini, Patrizia Pantano, Mario Cirillo, Gioacchino Tedeschi, Massimo Filippi, Antonio Gallo & the INNI Network
doi : 10.1007/s00415-022-11479-z
The Italian Neuroimaging Network Initiative (INNI) is an expanding repository of brain MRI data from multiple sclerosis (MS) patients recruited at four Italian MRI research sites. We describe the raw data quality of resting-state functional MRI (RS-fMRI) time-series in INNI and the inter-site variability in functional connectivity (FC) features after unified automated data preprocessing.
Diplopia: characteristics and etiologic distribution in a referral-based university hospital
Hyun-Jae Kim, Hyo-Jung Kim, Jeong-Yoon Choi, Hee Kyung Yang, Jeong-Min Hwang & Ji-Soo Kim
doi : 10.1007/s00415-022-11471-7
The etiologic distribution and clinical features of diplopia may differ according to the specialties involved in the management. This study aimed to establish the clinical features and underlying etiologies of diplopia by recruiting patients from all departments.
Development and external validation of multivariable risk models to predict incident and resolved neuropathic pain: a DOLORisk Dundee study
Harry L. Hébert, Abirami Veluchamy, Georgios Baskozos, Francesca Fardo, Dimitri Van Ryckeghem, Ewan R. Pearson, Lesley A. Colvin, Geert Crombez, David L. H. Bennett, Weihua Meng, Colin N. A. Palmer & Blair H. Smith
doi : 10.1007/s00415-022-11478-0
Neuropathic pain is difficult to treat, and an understanding of the risk factors for its onset and resolution is warranted. This study aimed to develop and externally validate two clinical risk models to predict onset and resolution of chronic neuropathic pain.
Communicating the relevance of neurodegeneration and brain atrophy to multiple sclerosis patients: patient, provider and researcher perspectives
Penny Pennington, Bianca Weinstock-Guttman, Channa Kolb, Dejan Jakimovski, Katherine Sacca, Ralph H. B. Benedict, Svetlana Eckert, Marc Stecker, Alexis Lizarraga, Michael G. Dwyer, Carol B. Schumacher, Niels Bergsland, Patricia Picco, Evanthia Bernitsas, Rana Zabad, Gabriel Pardo, Donald Negroski, Martin Belkin, David Hojnacki & Robert Zivadinov
doi : 10.1007/s00415-022-11405-3
Central nervous system (CNS) atrophy provides valuable additional evidence of an ongoing neurodegeneration independent of lesion accrual in persons with multiple sclerosis (PwMS). However, there are limitations for interpretation of CNS volume changes at individual patient-level.
Correction to: Communicating the relevance of neurodegeneration and brain atrophy to multiple sclerosis patients: patient, provider and researcher perspectives
Penny Pennington, Bianca Weinstock-Guttman, Channa Kolb, Dejan Jakimovski, Katherine Sacca, Ralph H. B. Benedict, Svetlana Eckert, Marc Stecker, Alexis Lizarraga, Michael G. Dwyer, Carol B. Schumacher, Niels Bergsland, Patricia Picco, Evanthia Bernitsas, Rana Zabad, Gabriel Pardo, Donald Negroski, Martin Belkin, David Hojnacki & Robert Zivadinov
Brain structural abnormalities and cognitive changes in a patient with 17q21.31 microduplication and early onset dementia: a case report
Michela Leocadi, Elisa Canu, Camilla Cividini, Tommaso Russo, Giordano Cecchetti, Claudia Celico, Rosalinda Cardamone, Valeria Barcella, Giuseppe Magnani, Federica Agosta & Massimo Filippi
doi : 10.1007/s00415-022-11423-1
We describe brain structural damage and cognitive profile evolution of an adult patient with 17q21.31 microduplication, a rare condition associated with psychomotor delay, behavioural disturbances and poor social interaction.
Peripapillary hyper-reflective ovoid mass-like structures (PHOMS) in AQP4-IgG-positive neuromyelitis optica spectrum disease (NMOSD) and MOG-IgG-associated disease (MOGAD)
Jonathan A. Gernert, Rebecca Wicklein, Bernhard Hemmer, Tania Kümpfel, Benjamin Knier & Joachim Havla
doi : 10.1007/s00415-022-11381-8
Peripapillary hyperreflective ovoid mass-like structures (PHOMS) have recently been described as new optical coherence tomography (OCT) marker. It is not yet clear whether the occurrence of PHOMS is disease-specific or disease-spanning.
Functional neurological symptoms as initial presentation of Creutzfeldt-Jakob disease: case series
VÃctor Gómez-Mayordomo, Maja Kojović, Eva López-Valdés, Fernando Alonso-Frech, Alejandro Horga, Rebeca Fernández-RodrÃguez & Isabel Pareés
doi : 10.1007/s00415-022-11376-5
Functional Neurological Disorders (FND) are common in clinical practice. It is recognized that FND may present at onset or during the course of other neurological diseases (functional comorbidity).
Adult motor neuron disease death rates in Finland 1998–2019
Jussi O. T. Sipilä & Manu Jokela
MicroRNAs 181a and 125a are highly expressed in naïve RRMS: a pilot case–control study
Emanuele D’Amico, Aurora Zanghì, Virginia Manuti, Caterina Allegretta, Antonella Amoruso, Gaetano Serviddio & Carlo Avolio
Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report
Rachael L. Taylor, Tonci Antunovich, Thomas Ming Hong Chang, Miriam Rodrigues, Ashleigh Baker, Peter Bergin, Ben McGuinness & Richard H. Roxburgh
Counteraction of inflammatory activity in CAA-related subarachnoid hemorrhage
Stefanie Schreiber, Anna-Charlotte John, Cornelius J. Werner, Stefan Vielhaber, Hans-Jochen Heinze, Oliver Speck, Jens Würfel, Daniel Behme & Hendrik Mattern
A systematic review of local field potential physiomarkers in Parkinson’s disease: from clinical correlations to adaptive deep brain stimulation algorithms
Bernadette C. M. van Wijk, Rob M. A. de Bie & Martijn Beudel
doi : 10.1007/s00415-022-11388-1
Deep brain stimulation (DBS) treatment has proven effective in suppressing symptoms of rigidity, bradykinesia, and tremor in Parkinson’s disease. Still, patients may suffer from disabling fluctuations in motor and non-motor symptom severity during the day.
Optical coherence tomography as a prognostic tool for disability progression in MS: a systematic review
Stijn Swinnen, Dries De Wit, Liesbeth Van Cleemput, Catherine Cassiman & Bénédicte Dubois
doi : 10.1007/s00415-022-11474-4
Since multiple sclerosis (MS) is characterized by an unpredictable disease course, accurate prognosis and personalized treatment constitute an important challenge in clinical practice.
Amyotrophic lateral sclerosis: an update on treatments from clinical trials
Ray Wynford-Thomas & Neil P. Robertson
William Bevan-Lewis (1847–1929)
Andrew J. Larner & Lazaros C. Triarhou
Gustaw Bikeles (1861–1918)
Slawomir Gonkowski & Oksana Zayachkivska
