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Dissociative seizures in the emergency department: how to solve the problem of diagnostic confusion leading to iatrogenic harm? J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Mahinda Yogarajah
Over the last 20 years, there has been a renaissance in the study of functional neurological disorders (FNDs). Alongside an improved understanding of their involuntary nature,1 and mechanistic and aetiological complexities,2 there is an increasing recognition of the iatrogenic harm and socioeconomic costs associated with these disorders. Dissociative seizures are the most common form of FND. They look
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Dissociative seizures in the emergency room: room for improvement J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Ozan Cengiz, Johannes Jungilligens, Rosa Michaelis, Jörg Wellmer, Stoyan Popkirov
Background Dissociative seizures, also known as functional or psychogenic non-epileptic seizures, account for 11%–27% of all emergency seizure presentations. Misdiagnosis as epileptic seizures is common and leads to ineffective and potentially harmful treatment escalations. We assess the potential for diagnostic improvement at different stages of emergency workup and estimate the utility of benzodiazepines
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GPi-DBS-induced brain metabolic activation in cervical dystonia J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Emma A Honkanen, Jaana Rönkä, Eero Pekkonen, Juho Aaltonen, Maija Koivu, Olli Eskola, Hazem Eldebakey, Jens Volkmann, Valtteri Kaasinen, Martin M Reich, Juho Joutsa
Background Deep brain stimulation (DBS) of the globus pallidus interna (GPi) is a highly efficacious treatment for cervical dystonia, but its mechanism of action is not fully understood. Here, we investigate the brain metabolic effects of GPi-DBS in cervical dystonia. Methods Eleven patients with GPi-DBS underwent brain 18F-fluorodeoxyglucose positron emission tomography imaging during stimulation
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Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Micol Avenali, Roberta Zangaglia, Giada Cuconato, Ilaria Palmieri, Alberto Albanese, Carlo Alberto Artusi, Marco Bozzali, Giovanna Calandra-Buonaura, Francesco Cavallieri, Roberto Cilia, Antoniangela Cocco, Filippo Cogiamanian, Fabiana Colucci, Pietro Cortelli, Alessio Di Fonzo, Roberto Eleopra, Giulia Giannini, Alberto Imarisio, Gabriele Imbalzano, Claudia Ledda, Leonardo Lopiano, Maria Chiara Malaguti
Background GBA variants increase the risk of developing Parkinson disease (PD) and influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for advanced PD. Data on DBS long-term outcome in GBA carriers are scarce. Objective To elucidate the impact of GBA variants on long-term DBS outcome in a large Italian cohort. Methods We retrospectively recruited a multicentric Italian
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Temporal course of cognitive and behavioural changes in motor neuron diseases J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Caroline A McHutchison, Joanne Wuu, Corey T McMillan, Rosa Rademakers, Jeffrey Statland, Gang Wu, Evadnie Rampersaud, Jason Myers, Jessica P Hernandez, Sharon Abrahams, Michael Benatar
Background Cognitive and behavioural dysfunction may occur in people with motor neuron disease (MND), with some studies suggesting an association with the C9ORF72 repeat expansion. Their onset and progression, however, is poorly understood. We explored how cognition and behaviour change over time, and whether demographic, clinical and genetic factors impact these changes. Methods Participants with
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Seroreactivity against lytic, latent and possible cross-reactive EBV antigens appears on average 10 years before MS induced preclinical neuroaxonal damage J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Daniel Jons, Viktor Grut, Tomas Bergström, Henrik Zetterberg, Martin Biström, Martin Gunnarsson, Magnus Vrethem, Nicole Brenner, Julia Butt, Kaj Blennow, Staffan Nilsson, Ingrid Kockum, Tomas Olsson, Tim Waterboer, Peter Sundström, Oluf Andersen
Background Multiple sclerosis (MS) and presymptomatic axonal injury appear to develop only after an Epstein-Barr virus (EBV) infection. This association remains to be confirmed across a broad preclinical time range, for lytic and latent EBV seroreactivity, and for potential cross-reacting antigens. Methods We performed a case–control study with 669 individual serum samples obtained before clinical
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Best practices in phase III clinical trials on DMTs for multiple sclerosis: a systematic analysis and appraisal of published trials J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Marta Mascarenas-Garcia, Alejandro Rivero-de-Aguilar, Mónica Pérez-Ríos, Alberto Ruano-Raviña, Miguel Angel Llaneza-Gonzalez, Cristina Candal-Pedreira, Julia Rey-Brandariz, Leonor Varela-Lema
Background Great advances have been made in the field of multiple sclerosis (MS) therapy due to the publication of numerous randomised clinical trials (RCTs). In this study, we carried out a critical appraisal of phase III RCTs of disease-modifying therapies (DMTs) for MS published after 2010, intending to identify critical areas of improvement. Methods We performed a systematic search of published
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COVID-19 has no impact on disease activity, progression and cognitive performance in people with multiple sclerosis: a 2-year study J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Federico Montini, Agostino Nozzolillo, Nicolò Tedone, Damiano Mistri, Paola MV Rancoita, Chiara Zanetta, Alessandra Mandelli, Roberto Furlan, Lucia Moiola, Vittorio Martinelli, Maria A Rocca, Massimo Filippi
Background Sequelae of COVID-19 in people with multiple sclerosis (PwMS) have not been characterised. We explored whether COVID-19 is associated with an increased risk of disease activity, disability worsening, neuropsychological distress and cognitive dysfunction during the 18–24 months following SARS-COV-2 infection. Methods We enrolled 174 PwMS with history of COVID-19 (MS-COVID) between March 2020
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Do lower limb motor-evoked potentials predict walking outcomes post-stroke? J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Marie-Claire Smith, Benjamin J Scrivener, Cathy M Stinear
Background This observational study examined whether lower limb (LL) motor-evoked potentials (MEPs) 1 week post-stroke predict recovery of independent walking, use of ankle-foot orthosis (AFO) or walking aid, at 3 and 6 months post-stroke. Methods Non-ambulatory participants were recruited 5 days post-stroke. Transcranial magnetic stimulation was used to determine tibialis anterior MEP status and clinical
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Alzheimer’s disease marker phospho-tau181 is not elevated in the first year after moderate-to-severe TBI J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Neil Graham, Karl Zimmerman, Amanda J Heslegrave, Ashvini Keshavan, Federico Moro, Samia Abed-Maillard, Adriano Bernini, Vincent Dunet, Elena Garbero, Giovanni Nattino, Arturo Chieregato, Enrico Fainardi, Camelia Baciu, Primoz Gradisek, Sandra Magnoni, Mauro Oddo, Guido Bertolini, Jonathan M Schott, Henrik Zetterberg, David Sharp
Background Traumatic brain injury (TBI) is associated with the tauopathies Alzheimer’s disease and chronic traumatic encephalopathy. Advanced immunoassays show significant elevations in plasma total tau (t-tau) early post-TBI, but concentrations subsequently normalise rapidly. Tau phosphorylated at serine-181 (p-tau181) is a well-validated Alzheimer’s disease marker that could potentially seed progressive
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Premorbid brain structure influences risk of amyotrophic lateral sclerosis J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Alexander G Thompson, Bernd Taschler, Stephen M Smith, Martin R Turner
Background Amyotrophic lateral sclerosis (ALS) is a disease of the motor network associated with brain structure and functional connectivity alterations that are implicated in disease progression. Whether such changes have a causal role in ALS, fitting with a postulated influence of premorbid cerebral architecture on the phenotypes associated with neurodegenerative disorders is not known. Methods This
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The T1-weighted/T2-weighted ratio as a biomarker of anti-NMDA receptor encephalitis J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Tim Julian Hartung, Graham Cooper, Valentin Jünger, Darko Komnenić, Lara Ryan, Josephine Heine, Claudia Chien, Friedemann Paul, Harald Prüss, Carsten Finke
Background Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis rarely causes visible lesions in conventional MRI, yet advanced imaging detects extensive white matter damage. To improve prognostic capabilities, we evaluate the T1-weighted/T2-weighted (T1w/T2w) ratio, a measure of white matter integrity computable from clinical MRI sequences, in NMDAR encephalitis and examine its associations with
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Understanding the pathophysiology of idiopathic intracranial hypertension (IIH): a review of recent developments J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Blake D Colman, Frederique Boonstra, Minh NL Nguyen, Subahari Raviskanthan, Priya Sumithran, Owen White, Elspeth J Hutton, Joanne Fielding, Anneke van der Walt
Idiopathic intracranial hypertension (IIH) is a condition of significant morbidity and rising prevalence. It typically affects young people living with obesity, mostly women of reproductive age, and can present with headaches, visual abnormalities, tinnitus and cognitive dysfunction. Raised intracranial pressure without a secondary identified cause remains a key diagnostic feature of this condition
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Dementia prevention: the Mendelian randomisation perspective J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 Emma Louise Anderson, Neil M Davies, Roxanna Korologou-Linden, Mika Kivimäki
Understanding the causes of Alzheimer’s disease and related dementias remains a challenge. Observational studies investigating dementia risk factors are limited by the pervasive issues of confounding, reverse causation and selection biases. Conducting randomised controlled trials for dementia prevention is often impractical due to the long prodromal phase and the inability to randomise many potential
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Correction: ICARUS study: prevalence and clinical features of impulse control disorders in Parkinson’s disease J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-04-01 BMJ Publishing Group Ltd
Antonini A, Barone P, Bonuccelli U, et al . ICARUS study: …
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Revisiting the jumping to conclusions bias in functional movement disorders J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-07 Raquel Sainz-Amo, Jessenia Morillo-González, Jorge Gómez-Corral, Cristina Moreno, Araceli Alonso Cánovas, Juan Carlos Martinez Castrillo, Mark J Edwards, Daniel Hernández-Huerta, Isabel Pareés
Functional movement disorders (FMD) are part of the spectrum of functional neurological disorders (FND), which are common and disabling. Nowadays, it is widely accepted that key aspects of the underlying pathophysiology include the tendency to form abnormal beliefs about symptoms, disturbance of attentional control and disruption of mechanisms regulating sense of agency.1 ‘Jumping to conclusions’ bias
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Central vein sign and trigeminal lesions of multiple sclerosis visualised by 7T MRI J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-07 Jing Jing, Zhe Zhang, Lei Su, Chenyang Gao, Ai Guo, Xinyao Liu, Huabing Wang, Xinghu Zhang, Yaou Liu, Giancarlo Comi, Emmanuelle Waubant, Fu-Dong Shi, De-Cai Tian
Background Although trigeminal nerve involvement is a characteristic of multiple sclerosis (MS), its prevalence across studies varies greatly due to MRI resolution and cohort selection bias. The mechanism behind the site specificity of trigeminal nerve injury is still unclear. We aim to determine the prevalence of trigeminal nerve involvement in patients with MS in a consecutive 7T brain MRI cohort
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Patient-perceived progression in multiple system atrophy: natural history of quality of life J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-07 Tiphaine Saulnier, Margherita Fabbri, Mélanie Le Goff, Catherine Helmer, Anne Pavy-Le Traon, Wassilios G. Meissner, Olivier Rascol, Cecile Proust-Lima, Alexandra Foubert-Samier
Background Health-related quality of life (Hr-QoL) scales provide crucial information on neurodegenerative disease progression, help improve patient care and constitute a meaningful endpoint for therapeutic research. However, Hr-QoL progression is usually poorly documented, as for multiple system atrophy (MSA), a rare and rapidly progressing alpha-synucleinopathy. This work aimed to describe Hr-QoL
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Comparing ocrelizumab to interferon/glatiramer acetate in people with multiple sclerosis over age 60 J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-07 Yi Chao Foong, Daniel Merlo, Melissa Gresle, Katherine Buzzard, Michael Zhong, Wei Zhen Yeh, Vilija Jokubaitis, Mastura Monif, Olga Skibina, Serkan Ozakbas,, Francesco Patti, Pierre Grammond, Maria Pia Amato, Tomas Kalincik, Dana Horakova, Eva Kubala Havrdova, Bianca Weinstock-Guttman, Jeanette Lechner Scott, Cavit Boz, Maria Jose Sa, Helmut Butzkueven, Anneke van der Walt, Chao Zhu
Background Ongoing controversy exists regarding optimal management of disease modifying therapy (DMT) in older people with multiple sclerosis (pwMS). There is concern that the lower relapse rate, combined with a higher risk of DMT-related infections and side effects, may alter the risk-benefit balance in older pwMS. Given the lack of pwMS above age 60 in randomised controlled trials, the comparative
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Risk of stroke with different levels of leisure-time physical activity: a systematic review and meta-analysis of prospective cohort studies J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-05 Federico De Santis, Michele Romoli, Matteo Foschi, Francesco Domenico Sciancalepore, Lucio D'Anna, Lorenzo Barba, Samir Abu-Rumeileh, Simona Sacco, Raffaele Ornello
Background Leisure-time physical activity (LTPA) protects against vascular diseases. Whether and to what extent different levels of LTPA, including lower ones, benefit stroke prevention is still unclear. Methods We searched prospective cohort studies, indexed on PubMed and Scopus, published in English up to 22 April 2023, that investigated, in a general healthy population, the relationship between
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Resective epilepsy surgery and its impact on depression in adults: a systematic review, meta-analysis, and implications for future research J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-05 Natalia Hernandez Poblete, Florian Gay, Francesco Salvo, Jean-Arthur Micoulaud-Franchi, Thomas Bienvenu, Julien Coelho, Jerome Aupy
Background How epilepsy surgery influences the bidirectional relationship of epilepsy and depression remains poorly defined. Method For a better understanding of this question, we conducted a systematic review and meta-analysis of risk ratio on depression prevalence before and after epilepsy surgery, using Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines. Three databases
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Does sex influence the natural history of idiopathic adult-onset dystonia? J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Vittorio Velucci, Sarah Idrissi, Roberta Pellicciari, Marcello Esposito, Assunta Trinchillo, Daniele Belvisi, Giovanni Fabbrini, Gina Ferrazzano, Carmen Terranova, Paolo Girlanda, Giovanni Majorana, Vincenzo Rizzo, Francesco Bono, Giovanni Idone, Vincenzo Laterza, Laura Avanzino, Francesca Di Biasio, Roberta Marchese, Anna Castagna, Marina Ramella, Christian Lettieri, Sara Rinaldo, Maria Concetta Altavista
Background Several earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread
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Prognostic factors of first-onset optic neuritis based on diagnostic criteria and antibody status: a multicentre analysis of 427 eyes J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-28 Young Gi Min, Yeji Moon, Young Nam Kwon, Byung Joo Lee, Kyung-Ah Park, Jae Yong Han, Jinu Han, Haeng-Jin Lee, Seol-Hee Baek, Byung-Jo Kim, Jun-Soon Kim, Kyung Seok Park, Nam-Hee Kim, Martha Kim, Tai-Seung Nam, Seong-Il Oh, Jae Ho Jung, Jung-Joon Sung, Myoung-Jin Jang, Seong-Joon Kim, Sung-Min Kim
Background Optic neuritis (ON) prognosis is influenced by various factors including attack severity, underlying aetiologies, treatments and consequences of previous episodes. This study, conducted on a large cohort of first ON episodes, aimed to identify unique prognostic factors for each ON subtype, while excluding any potential influence from pre-existing sequelae. Methods Patients experiencing their
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Exercise as medicine in Parkinson’s disease J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-28 Martin Langeskov-Christensen, Erika Franzén, Lars Grøndahl Hvid, Ulrik Dalgas
Parkinson’s disease (PD) is an incurable and progressive neurological disorder leading to deleterious motor and non-motor consequences. Presently, no pharmacological agents can prevent PD evolution or progression, while pharmacological symptomatic treatments have limited effects in certain domains and cause side effects. Identification of interventions that prevent, slow, halt or mitigate the disease
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NICE guideline on ME/CFS: robust advice based on a thorough review of the evidence J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-28 Peter Walter Barry, Kate Kelley, Toni Tan, Ilora Finlay
In 2021, the National Institute for Health and Care Excellence produced an evidence-based guideline on the diagnosis and management of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), a disabling long-term condition of unknown cause. The guideline provides clear support for people living with ME/CFS, their families and carers, and for clinicians. A recent opinion piece published in the
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Effects of motor cortical and peripheral axonal hyperexcitability on survival in amyotrophic lateral sclerosis J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-28 Ryo Otani, Kazumoto Shibuya, Yo-Ichi Suzuki, Tomoki Suichi, Marie Morooka, Yuya Aotsuka, Moeko Ogushi, Satoshi Kuwabara
Background Increased ‘cortical’ and ‘peripheral’ excitability are reportedly associated with shorter survival in amyotrophic lateral sclerosis (ALS) patients, suggesting that hyperexcitability contributes to motor neuron death. However, whether upper or lower motor function has a greater impact on survival is unclear. We aimed to investigate the component that strongly impacts the prognosis of ALS
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Primary lateral sclerosis: application and validation of the 2020 consensus diagnostic criteria in an expert opinion-based PLS cohort J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-22 Simon Witzel, Veronika Micca, Hans P Müller, André Huss, Franziska Bachhuber, Johannes Dorst, Dorothée E Lulé, Hayrettin Tumani, Jan Kassubek, Albert C Ludolph
Background Validation of the 2020 consensus criteria for primary lateral sclerosis (PLS) is essential for their use in clinical practice and future trials. Methods In a large cohort of patients diagnosed with PLS by expert opinion prior to the new criteria with detailed clinical baseline evaluation (n=107) and longitudinal follow-up (n=63), we applied the new diagnostic criteria and analysed the clinical
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Incidence and determinants of seizures in multiple sclerosis: a meta-analysis of randomised clinical trials J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-21 Valeria Pozzilli, Shalom Haggiag, Massimiliano Di Filippo, Fioravante Capone, Vincenzo Di Lazzaro, Carla Tortorella, Claudio Gasperini, Luca Prosperini
Background Seizures are reported to be more prevalent in individuals with multiple sclerosis (MS) compared with the general population. Existing data predominantly originate from population-based studies, which introduce variability in methodologies and are vulnerable to selection and reporting biases. Methods This meta-analysis aims to assess the incidence of seizures in patients participating in
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Pain and functional neurological disorder: a systematic review and meta-analysis J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-21 Moritz Steinruecke, Isabel Mason, Mairi Keen, Laura McWhirter, Alan J Carson, Jon Stone, Ingrid Hoeritzauer
Background Functional neurological disorder (FND) is characterised by neurological symptoms, such as seizures and abnormal movements. Despite its significance to patients, the clinical features of chronic pain in people with FND, and of FND in people with chronic pain, have not been comprehensively studied. Methods We systematically reviewed PubMed, Embase and PsycINFO for studies of chronic pain in
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Therapeutic interventions increasing seizure risk in multiple sclerosis: resolving discordant meta-analyses J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-21 John P Ioannidis
In their JNNP meta-analysis Pozzilli et al concludes that sphingosine-1-phosphate receptor (S1PR) modulators substantially increase seizure risk in multiple sclerosis.1 Conversely, another meta-analysis by Dang et al 2 recently concluded that ‘no evidence of association was found between disease-modifying therapy and seizure risk’. Both meta-analyses focused on randomised controlled trials, but used
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Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-21 Thiago Junqueira Ribeiro Rezende, Isaac Adanyaguh, Orlando G P Barsottini, Benjamin Bender, Fernando Cendes, Leo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Juan Fernandez-Ruiz, Sophia L Göricke, Marina Grisoli, Carlos R Hernandez-Castillo, Christophe Lenglet, Caterina Mariotti, Alberto R M Martinez, Breno K Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio E Ono, Gülin Öz, José
Background Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morphometric abnormalities in SCA1, SCA2, SCA3 and SCA6 using a large multisite MRI dataset. Methods Upper spinal cord (vertebrae C1–C4) cross-sectional area (CSA) and
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Genetics, cell biology and a novel mechanism for ALS J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Michael E Shy
Syeda and colleagues used an elegant combination of genetics, meticulous clinical evaluation and cell biology to demonstrate that disrupting serine palmitoyl transferase (SPT) can cause amyotrophic lateral sclerosis (ALS) in very young children.1 SPT is the initial rate-limiting step in sphingolipid biosynthesis, joining serine and palmitoyl CoA in a decarboxylating condensation reaction that ultimately
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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Maike F Dohrn, Danique Beijer, Museer A Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C Danzi, Matthis Synofzik, Carsten G Bönnemann, A Nazlı Başak, Thorsten Hornemann, Stephan Zuchner
Background Amyotrophic lateral sclerosis (ALS) leads to paralysis and death by progressive degeneration of motor neurons. Recently, specific gain-of-function mutations in SPTLC1 were identified in patients with juvenile form of ALS . SPTLC2 encodes the second catalytic subunit of the serine-palmitoyltransferase (SPT) complex. Methods We used the GENESIS platform to screen 700 ALS whole-genome and whole-exome
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Unilateral focused ultrasound subthalamotomy in early Parkinson’s disease: a pilot study J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Raúl Martínez Fernández, Elena Natera Villalba, Rafael Rodriguez-Rojas, Marta del Álamo, Jose A Pineda-Pardo, Ignacio Obeso, David Mata-Marín, Pasqualina Guida, Tamara Jimenez-Castellanos, Diana Pérez-Bueno, Alicia Duque, Jorge U Máñez Miró, Carmen Gasca-Salas, Michele Matarazzo, Jose A Obeso
Background Unilateral focused ultrasound subthalamotomy (FUS-STN) improves motor features of Parkinson’s disease (PD) in moderately advanced patients. The less invasive nature of FUS makes its early application in PD feasible. We aim to assess the safety and efficacy of unilateral FUS-STN in patients with PD of less than 5 years from diagnosis (early PD). Methods Prospective, open-label study. Eligible
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Cognitive and psychiatric outcomes in the GALAXY trial: effect of anaesthesia in deep brain stimulation J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Rozemarije A Holewijn, Thomas J C Zoon, Dagmar Verbaan, Isidoor O Bergfeld, Esmée Verwijk, Gert J Geurtsen, Geeske van Rooijen, Pepijn van den Munckhof, Maarten Bot, Damiaan A J P Denys, Rob M A De Bie, P Rick Schuurman
Background This study aims: (1) To compare cognitive and psychiatric outcomes after bilateral awake versus asleep subthalamic nucleus (STN) deep brain stimulation (DBS) surgery for Parkinson’s disease (PD). (2) To explore the occurrence of psychiatric diagnoses, cognitive impairment and quality of life after surgery in our whole sample. (3) To validate whether we can predict postoperative cognitive
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Effect of long-term Tai Chi training on Parkinson’s disease: a 3.5-year follow-up cohort study J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Gen Li, Pei Huang, Shishuang Cui, Yachao He, Yuyan Tan, Shengdi Chen
Background Tai Chi has shown beneficial effects on the motor and non-motor symptoms of Parkinson’s disease (PD), but no study has reported the effect of long-term Tai Chi training. Objective To examine whether long-term Tai Chi training can maintain improvement in patients with PD. Methods Cohorts of patients with PD with Tai Chi training (n=143) and patients with PD without exercise as a control group
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Incidence and prevalence of paediatric-onset multiple sclerosis in two Canadian provinces: a population-based study representing over half of Canada’s population J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Fardowsa L A Yusuf, Ayesha Asaf, Ruth Ann Marrie, Ping Li, Kyla McKay, Yinshan Zhao, Feng Zhu, Colleen Maxwell, Helen Tremlett
Background Population-based studies estimating the epidemiology of paediatric-onset multiple sclerosis (PoMS) are scarce. Methods We accessed population-based health administrative data from two provinces in Canada, Ontario and British Columbia (BC). Individuals with PoMS were identified via a validated case definition. The index date (‘MS onset’) was the first demyelinating or MS specific claim recorded
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Early treatment of type II SMA slows rate of progression of scoliosis J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Giorgia Coratti, Jacopo Lenkowicz, Maria Carmela Pera, Adele D'Amico, Claudio Bruno, Consolato Gullì, Noemi Brolatti, Marina Pedemonte, Laura Antonaci, Martina Ricci, Anna Capasso, Gianpaolo Cicala, Costanza Cutrona, Roberto de Sanctis, Sara Carnicella, Nicola Forcina, Michela Cateruccia, Maria Beatrice Damasio, Luca Labianca, Francesca Manfroni, Antonio Leone, Enrico Bertini, Marika Pane, Stefano
Background Type II spinal muscular atrophy (SMA) often leads to scoliosis in up to 90% of cases. While pharmacological treatments have shown improvements in motor function, their impact on scoliosis progression remains unclear. This study aims to evaluate potential differences in scoliosis progression between treated and untreated SMA II patients. Methods Treatment effect on Cobb’s angle annual changes
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Environmental risk scores of persistent organic pollutants associate with higher ALS risk and shorter survival in a new Michigan case/control cohort J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Stephen A Goutman, Jonathan Boss, Dae-Gyu Jang, Bhramar Mukherjee, Rudy J Richardson, Stuart Batterman, Eva L Feldman
Background Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurogenerative disease caused by combined genetic susceptibilities and environmental exposures. Identifying and validating these exposures are of paramount importance to modify disease risk. We previously reported that persistent organic pollutants (POPs) associate with ALS risk and survival and aimed to replicate these findings
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Reduced long-term mortality after successful resective epilepsy surgery: a population-based study J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Cecilia Granthon, Anna Edelvik Tranberg, Kristina Malmgren, Maria Compagno Strandberg, Eva Kumlien, Petra Redfors
Background We investigated all-cause and epilepsy-related mortality in patients operated with resective epilepsy surgery and in non-operated patients with drug-resistant epilepsy. Our hypothesis was that patients who proceed to surgery have lower mortality over time compared with non-operated patients. Method Data from 1329 adults and children from the Swedish National Epilepsy Surgery Register and
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Direct Versus Indirect Revascularization for Moyamoya: a Large Multicenter Study J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Kareem El Naamani, Ching-Jen Chen, Roland Jabre, Hassan Saad, Jonathan A Grossberg, Adam A Dmytriw, Aman B Patel, Mirhojjat Khorasanizadeh, Christopher S Ogilvy, Ajith Thomas, Andre Monteiro, Adnan Siddiqui, Gustavo M Cortez, Ricardo A Hanel, Guilherme Porto, Alejandro M Spiotta, Anthony J Piscopo, David M Hasan, Mohammad Ghorbani, Joshua Weinberg, Shahid M Nimjee, Kimon Bekelis, Mohamed M Salem, Jan-Karl
Background Moyamoya is a chronic occlusive cerebrovascular disease of unknown etiology causing neovascularization of the lenticulostriate collaterals at the base of the brain. Although revascularization surgery is the most effective treatment for moyamoya, there is still no consensus on the best surgical treatment modality as different studies provide different outcomes. Objective In this large case
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Beyond antithrombotics: recent advances in pharmacological risk factor management for secondary stroke prevention J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Dimitrios Sagris, George Ntaios, Haralampos Milionis
Patients with ischaemic stroke represent a diverse group with several cardiovascular risk factors and comorbidities, which classify them as patients at very high risk of stroke recurrence, cardiovascular adverse events or death. In addition to antithrombotic therapy, which is important for secondary stroke prevention in most patients with stroke, cardiovascular risk factor assessment and treatment
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Improved naming in patients with Broca’s aphasia with tDCS J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Leonardo Bonilha, Chris Rorden, Rebecca Roth, Souvik Sen, Mark S George, Julius Fridriksson
Background Language impairment (aphasia) is a common neurological deficit after strokes. For individuals with chronic aphasia (beyond 6 months after the stroke), language improvements with speech therapy (ST) are often limited. Transcranial direct current stimulation (tDCS) is a promising approach to complement language recovery but interindividual variability in treatment response is common after
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Cognitive and executive impairments in Parkinson’s disease psychosis: a Bayesian meta-analysis J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Sara Pisani, Luca Gosse, Rita Wieretilo, Dominic Ffytche, Latha Velayudhan, Sagnik Bhattacharyya
Background Cognitive and executive deficits lead to worsening of quality of life and are a risk factor for developing dementia in people with Parkinson’s disease (PD) with psychosis (PDP). However, which key cognitive domains are differentially affected in PDP compared with those without (PDnP), remains unclear. Here, we examined this using a Bayesian meta-analytical approach. Methods Searches were
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Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Claire Guissart, Elisa De la Cruz, Olivier Flabeau, Aude-Marie Grapperon, Giovanni Corazza, Lucie Junilhon, Jean-Charles Delmas, Stéphanie Millecamps, Anne Polge, Maria del Mar Amador, Francois Salachas, Julie Rochat, Cyril Goizet, Raul Juntas Morales, Serge Lumbroso, Pascal Philibert, David Cheillan, Kevin Mouzat
Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe motor neuron disease defined by an onset before the age of 25 with currently no available therapy. Only a few genes have been linked to JALS such as ALS2 , FUS , SETX , SPG11 , SIGMAR1 , and more recently SPTLC1 . This gene encodes one of the subunits of serine palmitoyltransferase (SPT), which is the first enzyme for de novo sphingolipid
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Leukoencephalopathy caused by a 17p13.3 microdeletion J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-03-01 Charles Wade, Thomas Williams, Robyn Labrum, Yogen Patel, Elisa Cali, Indran Davagnanam, Matthew E Adams, Frederik Barkhof, Elaine Murphy, Jeremy Chataway, Henry Houlden, David S Lynch
Inherited white matter disorders (IWMDs) comprise a group of genetic disorders with onset from childhood to late adulthood in which there is degeneration of central nervous system white matter tracts. They are clinically and genetically heterogeneous. In adults, there may be a wide variety of clinical manifestations including cognitive decline, spasticity and ataxia, and the general course is progressive
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Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-10 Elba Pascual-Goñi, Roger Collet, Clara Tejada-Illa, Lorena Martín-Aguilar, Marta Caballero-Ávila, Cinta Lleixà, Silvana Novelli, Jordi López-Pardo, Albert Esquirol Sanfeliu, Anais Mariscal, Yolanda Álvaro Gargallo, Eugenia Martínez-Hernández, Dolores Cocho, Luis Querol
Background Intravenous immunoglobulin (IVIG) and rituximab are considered the first-line and second-line treatments for Chronic Ataxic Neuropathy and Ophthalmoplegia with IgM-paraprotein, cold Agglutinins, and anti-Disialosyl antibodies (CANOMAD), with an overall clinical response around 50%. New anti-CD38 daratumumab, targeting long-lived plasma cells, has been reported as a promising therapy for
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Flavonoid intake and risk of Parkinson’s disease J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-06 Helena Sandoval-Insausti, Mario H Flores-Torres, Kjetil Bjornevik, Marianna Cortese, Albert Y Hung, Michael Schwarzschild, Tian-Shin Yeh, Alberto Ascherio
Background Flavonoids have been proposed to reduce the risk of Parkinson’s disease (PD). However, results from epidemiological studies have been inconclusive. Objective To prospectively examine the association between the intake of flavonoids and their subclasses and the risk of PD and how pesticides may confound or modify that association. Methods The study population comprised 80 701 women (1984–2016)
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NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-01 Christoph Linnemann, Carlo Wilke, David Mengel, Henrik Zetterberg, Carolin Heller, Jens Kuhle, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John Cornelis Van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Barbara Borroni, Raquel Sánchez-Valle, Daniela Galimberti, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James Benedict Rowe, Elizabeth
Background Blood neurofilament light chain (NfL) is increasingly considered as a key trial biomarker in genetic frontotemporal dementia (gFTD). We aimed to facilitate the use of NfL in gFTD multicentre trials by testing its (1) reliability across labs; (2) reliability to stratify gFTD disease stages; (3) comparability between blood matrices and (4) stability across recruiting sites. Methods Comparative
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The influence of epigenetic biological age on key complications and outcomes in aneurysmal subarachnoid haemorrhage J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-02-01 Adrià Macias-Gómez, Joan Jiménez-Balado, Isabel Fernández‑Pérez, Antoni Suárez‑Pérez, Marta Vallverdú-Prats, Leopoldo Guimaraens, Elio Vivas, Jesus Saldaña, Eva Giralt-Steinhauer, Daniel Guisado-Alonso, Gloria Villalba, Maria-Pilar Gracia, Manel Esteller, Ana Rodriguez-Campello, Jordi Jiménez-Conde, Angel Ois, Elisa Cuadrado-Godia
Background We aimed to investigate the association between DNA-methylation biological age (B-age) calculated as age acceleration (ageAcc) and key aneurysmal subarachnoid haemorrhage (aSAH) complications such as vasospasm, delayed cerebral ischaemia (DCI), poor outcome, and mortality. Methods We conducted a prospective study involving 277 patients with aSAH. B-age was determined in whole blood samples
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The MOG antibody non-P42 epitope is predictive of a relapsing course in MOG antibody-associated disease J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-30 Ganesha Liyanage, Benjamin P Trewin, Joseph A Lopez, Jane Andersen, Fiona Tea, Vera Merheb, Kristy Nguyen, Fiona X Z Lee, Marzena J Fabis-Pedrini, Alicia Zou, Ali Buckland, Anthony Fok, Michael H Barnett, Stephen W Reddel, Romain Marignier, Aseel El Hajj, Mastura Monif, Anneke van der Walt, Jeannette Lechner-Scott, Allan G Kermode, Tomas Kalincik, Simon A Broadley, Russell C Dale, Sudarshini Ramanathan
Background Myelin oligodendrocyte glycoprotein (MOG) IgG seropositivity is a prerequisite for MOG antibody-associated disease (MOGAD) diagnosis. While a significant proportion of patients experience a relapsing disease, there is currently no biomarker predictive of disease course. We aim to determine whether MOG-IgG epitopes can predict a relapsing course in MOGAD patients. Methods MOG-IgG-seropositive
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Cardiometabolic risk factors and neurodegeneration: a review of the mechanisms underlying diabetes, obesity and hypertension in Alzheimer’s disease J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-30 Vijay Patel, Paul Edison
A growing body of evidence suggests that cardiometabolic risk factors play a significant role in Alzheimer’s disease (AD). Diabetes, obesity and hypertension are highly prevalent and can accelerate neurodegeneration and perpetuate the burden of AD. Insulin resistance and enzymes including insulin degrading enzymes are implicated in AD where breakdown of insulin is prioritised over amyloid-β. Leptin
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Prevalence and burden of pain across the entire spectrum of Huntington’s disease J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-30 Gregory P Sprenger, Erik W van Zwet, Hannah S Bakels, Wilco P Achterberg, Raymund A Roos, Susanne T de Bot
Background Pain is an important symptom in Huntington’s disease (HD), however, not systematically studied and understood. The objective of the current study is to assess the prevalence of pain, pain interference in daily activities, painful conditions, analgesic use and the severity of the pain burden across different disease stages and ‘Age at symptom Onset’ groups. Additionally, the association between
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ON/OFF non-motor evaluation: a new way to evaluate non-motor fluctuations in Parkinson’s disease J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-25 Florent Faggianelli, Tatiana Witjas, J-P Azulay, Isabelle Benatru, Cécile Hubsch, Mathieu Anheim, Caroline Moreau, Elodie Hainque, Sophie Drapier, Béchir Jarraya, Chloé Laurencin, Dominique Guehl, Lucie Hopes, Christine Brefel-Courbon, Melissa Tir, Ana Marques, Tiphaine Rouaud, David Maltete, Caroline Giordana, Karine Baumstarck, Olivier Rascol, Jean Christophe Corvol, Anne-Sophie Rolland, David Devos
Background NMF are currently poorly evaluated in therapeutic decisions. A quantification of their severity would facilitate their integration. The objective of this study was to validate an autoquestionnaire evaluating the severity of non-motor fluctuations (NMF) in Parkinson’s disease (PD). Methods Patients with PD were included in presurgical situation for deep brain stimulation of subthalamic nuclei
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Functional parcellation of the cingulate gyrus by electrical cortical stimulation: a synthetic literature review and future directions J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-19 Rawan Mahgoub, Ayse Kacar Bayram, Dennis D Spencer, Rafeed Alkawadri
Background The cingulate gyrus (CG), a brain structure above the corpus callosum, is recognised as part of the limbic system and plays numerous vital roles. However, its full functional capacity is yet to be understood. In recent years, emerging evidence from imaging modalities, supported by electrical cortical stimulation (ECS) findings, has improved our understanding. To our knowledge, there is a
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Emulating randomised clinical trials in relapsing-remitting multiple sclerosis with non-randomised real-world evidence: an application using data from the MSBase Registry J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-19 Alessio Signori, Marta Ponzano, Tomas Kalincik, Serkan Ozakbas, Dana Horakova, Eva Kubala Havrdova, Raed Alroughani, Francesco Patti, Jens Kuhle, Guillermo Izquierdo, Sara Eichau, Bassem Yamout, Samia Joseph Khoury, Rana Karabudak, Pierre Grammond, Pierre Duquette, Izanne Roos, Helmut Butzkueven, Anneke van der Walt, Maria Pia Sormani
Background To mimic as closely as possible a randomised controlled trial (RCT) and calibrate the real-world evidence (RWE) studies against a known treatment effect would be helpful to understand if RWE can support causal conclusions in selected circumstances. The aim was to emulate the TRANSFORMS trial comparing Fingolimod (FTY) versus intramuscular interferon β-1a (IFN) using observational data. Methods
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PSCK9 inhibitors reduced early recurrent stroke in patients with symptomatic intracranial atherosclerotic stenosis J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-11 Li Wu, Bo Zhang, Chenghao Li, Zhuolin Zhuang, Kang Liu, Hualin Chen, Shuanggen Zhu, Juehua Zhu, Zheng Dai, Huameng Huang, Yongjun Jiang
Background Symptomatic intracranial atherosclerotic stenosis (ICAS) is prone to cause early recurrent stroke (ERS). Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors lower low-density lipoprotein cholesterol (LDL-C) levels and prevent cardiovascular events. This multicentre, hospital-based prospective cohort study was designed to investigate whether PCSK9 inhibitors would prevent ERS
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Impact of white matter networks on risk for memory decline following resection versus ablation in temporal lobe epilepsy J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-11 Erik Kaestner, Alena Stasenko, Adam Schadler, Rebecca Roth, Kelsey Hewitt, Anny Reyes, Deqiang Qiu, Leonardo Bonilha, Natalie Voets, Ranliang Hu, Jon Willie, Nigel Pedersen, Jerry Shih, Sharona Ben-Haim, Robert Gross, Daniel Drane, Carrie R McDonald
Background With expanding neurosurgical options in epilepsy, it is important to characterise each options’ risk for postoperative cognitive decline. Here, we characterise how patients’ preoperative white matter (WM) networks relates to postoperative memory changes following different epilepsy surgeries. Methods Eighty-nine patients with temporal lobe epilepsy with T1-weighted and diffusion-weighted
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Head trauma results in manyfold increased risk of multiple sclerosis in genetically susceptible individuals J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-11 Eva Johansson, Lars Alfredsson, Pernilla Strid, Ingrid Kockum, Tomas Olsson, Anna Karin Hedström
Background Large register-based studies have reported an association between head trauma and increased risk of multiple sclerosis (MS). We aimed to investigate possible interactions between head trauma and MS-associated HLA genes in relation to MS risk. Methods We used a Swedish population-based case-control study (2807 incident cases, 5950 matched controls with HLA genotypes available for 2057 cases
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Rates of cortical thinning in Alzheimer’s disease signature regions associate with vascular burden but not with β-amyloid status in cognitively normal adults at age 70 J. Neurol. Neurosurg. Psychiatry (IF 11.0) Pub Date : 2024-01-10 Sarah E Keuss, William Coath, David M Cash, Josephine Barnes, Jennifer M Nicholas, Christopher A Lane, Thomas D Parker, Ashvini Keshavan, Sarah M Buchanan, Aaron Z Wagen, Mathew Storey, Matthew Harris, Kirsty Lu, Sarah-Naomi James, Rebecca Street, Ian B Malone, Carole H Sudre, David L Thomas, John C Dickson, Frederik Barkhof, Heidi Murray-Smith, Andrew Wong, Marcus Richards, Nick C Fox, Jonathan M
Background Consistent patterns of reduced cortical thickness have been identified in early Alzheimer’s disease (AD). However, the pathological factors that influence rates of cortical thinning within these AD signature regions remain unclear. Methods Participants were from the Insight 46 substudy of the MRC National Survey of Health and Development (NSHD; 1946 British birth cohort), a prospective longitudinal