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Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
Martin Merkel, Daniela Berg, Norbert Brüggemann, Joseph Classen, Tina Mainka, Simone Zittel & Ania C. Muntau
doi : 10.1007/s00415-023-11703-4
Volume 270, issue 8, August 2023
Phenylketonuria (PKU) is a rare inherited metabolic disorder characterised by elevated phenylalanine (Phe) concentrations that can exert neurotoxic effects if untreated or upon treatment discontinuation. This systematic review supported by expert opinion aims to raise awareness among the neurological community on neurological complications experienced by adults with PKU (AwPKU).
Neuropathology of New-Onset Refractory Status Epilepticus (NORSE)
Aurélie Hanin, Jorge Cespedes, Anita Huttner, David Strelnikov, Margaret Gopaul, Marcello DiStasio, Annamaria Vezzani, Lawrence J. Hirsch & Eleonora Aronica
doi : 10.1007/s00415-023-11726-x
New-Onset Refractory Status Epilepticus (NORSE), including its subtype with a preceding febrile illness known as FIRES (Febrile Infection-Related Epilepsy Syndrome), is one of the most severe forms of status epilepticus.
Autonomic nervous system disorders in multiple sclerosis
Effrosyni Koutsouraki, Koukoulidis Theodoros, Georgiadou Eleni, Kalampouka Marianna, Nikolaidou Areti, Koukoulidou Ariadni & Michmizos Dimitrios
doi : 10.1007/s00415-023-11725-y
Multiple sclerosis (MS) is a chronic progressive demyelinating disease of the central nervous system (CNS), which also affects the autonomic nervous system (ANS). Manifestations of MS in the ANS include urological, sexual, gastrointestinal, cardiovascular, and thermoregulatory disorders as well as increased fatigue.
Ordering genetic testing by neurologists: points to consider
Avi Fellner, Yael Goldberg & Lina Basel-Salmon
doi : 10.1007/s00415-023-11758-3
A significant challenge limiting the comprehensive utilization of genomic medicine is the lack of timely access to genetics specialists. Although neurologists see patients for whom genetic testing should be considered, the knowledge regarding the choice of the optimal genetic test for each case and the management of the test results are out of the scope of their everyday practice. In this review, we provide a step-by-step guide for non-geneticist physicians through the decision-making process when ordering diagnostic genetic testing for monogenic neurological diseases and when dealing with their results.
Recent advances in novel mutation genes of Parkinson's disease
Jie Yang, Xinyu Wu & Yuning Song
doi : 10.1007/s00415-023-11781-4
With increasing life expectancy, a growing number of individuals are being affected by Parkinson's Disease (PD), a Neurodegenerative Disease (ND). Approximately, 5–10% of PD is explained by genetic causes linked to known PD genes.
Duchenne muscular dystrophy: pathogenesis and promising therapies
Mengyuan Chang, Yong Cai, Zihui Gao, Xin Chen, Boya Liu, Cheng Zhang, Weiran Yu, Qianqian Cao, Yuntian Shen, Xinlei Yao, Xiaoyang Chen & Hualin Sun
doi : 10.1007/s00415-023-11796-x
Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle-wasting disease, characterized by progressive deterioration of skeletal muscle that causes rapid loss of mobility. The failure in respiratory and cardiac muscles is the underlying cause of premature death in most patients with DMD.
Changes in motor activity level in individuals with frontotemporal dementia
C. R. A. Silveira, E. Mitchell, M. Restrepo-Martinez, K. Coleman, R. Ruiz-Garcia & E. Finger
doi : 10.1007/s00415-023-11713-2
Changes in motor activity are common in individuals with Frontotemporal dementia (FTD). Yet, it remains unclear why some individuals become motorically hyperactive, while others hypoactive even in early stages of the disease.
Multiple sclerosis optic neuritis and trans-synaptic pathology on cortical thinning in people with multiple sclerosis
Ranjani Ganapathy Subramanian, Robert Zivadinov, Niels Bergsland, Michael G. Dwyer, Bianca Weinstock-Guttman & Dejan Jakimovski
doi : 10.1007/s00415-023-11709-y
The multi-order visual system represents an excellent testing site regarding the process of trans-synaptic degeneration. The presence and extent of global versus trans-synaptic neurodegeneration in people with multiple sclerosis (pwMS) is not clear.
Progressive supranuclear palsy’s economical burden: the use and costs of healthcare resources in a large health provider in Israel
Yael Barer, Raanan Cohen, Meital Grabarnik-John, Xiaolan Ye, Jorge Zamudio, Tanya Gurevich & Gabriel Chodick
doi : 10.1007/s00415-023-11714-1
Progressive supranuclear palsy (PSP) is a rare and fatal neurodegenerative movement disorder with no disease modifying therapy currently available. Data on the costs associated with PSP are scarce. This study aims to assess the direct medical expenditure of patients with PSP (PwPSP) throughout disease course.
Real-world use of natalizumab in Austria: data from the Austrian Multiple Sclerosis Treatment Registry (AMSTR)
Tobias Monschein, Sarinah Dekany, Tobias Zrzavy, Markus Ponleitner, Patrick Altmann, Gabriel Bsteh, Barbara Kornek, Paulus Rommer, Christian Enzinger, Franziska Di Pauli, Jörg Kraus, Thomas Berger, Fritz Leutmezer, Michael Guger on behalf of the Austrian MS Treatment Registry (AMSTR)
doi : 10.1007/s00415-023-11686-2
With the approval of natalizumab in Europe in 2006, the Austrian Multiple Sclerosis Therapy Registry (AMSTR) was established. Here, we present data from this registry about effectiveness and safety of natalizumab in patients treated up to 14Â years.
Correction: Real-world use of natalizumab in Austria: data from the Austrian Multiple Sclerosis Treatment Registry (AMSTR)
Tobias Monschein, Sarinah Dekany, Tobias Zrzavy, Markus Ponleitner, Patrick Altmann, Gabriel Bsteh, Barbara Kornek, Paulus Rommer, Christian Enzinger, Franziska Di Pauli, Jörg Kraus, Thomas Berger, Fritz Leutmezer, Michael Guger on behalf of the Austrian MS Treatment Registry (AMSTR)
The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study
Teije van Prooije, Sanne Ruigrok, Niels van den Berkmortel, Roderick P. P. W. M. Maas, Stan Wijn, Willeke M. C. van Roon-Mom, Bart van de Warrenburg & Janneke P. C. Grutters
doi : 10.1007/s00415-023-11704-3
There currently is no disease-modifying therapy for spinocerebellar ataxia type 1 (SCA1). Genetic interventions, such as RNA-based therapies, are being developed but those currently available are very expensive. Early evaluation of costs and benefits is, therefore, crucial. By developing a health economic model, we aimed to provide first insights into the potential cost-effectiveness of RNA-based therapies for SCA1 in the Netherlands.
Correction to: The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study
Teije van Prooije, Sanne Ruigrok, Niels van den Berkmortel, Roderick P. P. W. M. Maas, Stan R. W. Wijn, Willeke M. C. van Roon-Mom, Bart van de Warrenburg & Janneke P. C. Grutters
Diagnosing the benign paroxysmal positional vertigo via 1D and deep-learning composite model
Peixia Wu, Xuebing Liu, Qi Dai, Jiaoda Yu, Jieli Zhao, Fangzhou Yu, Yaoqian Liu, Yongbin Gao, Huawei Li & Wenyan Li
doi : 10.1007/s00415-023-11662-w
Benign Paroxysmal Positional Vertigo (BPPV) is the leading cause of vertigo, and its characteristic nystagmus induced by positional maneuvers makes it a good model for Artificial Intelligence (AI) diagnosis. However, during the testing procedure, up to 10Â min of indivisible long-range temporal correlation data are produced, making the AI-informed real-time diagnosing unlikely in clinical practice.
Data lake-driven analytics identify nocturnal non-dipping of heart rate as predictor of unfavorable stroke outcome at discharge
Alexander Nelde, Markus G. Klammer, Christian H. Nolte, Helena Stengl, Michael Krämer, Regina von Rennenberg, Andreas Meisel, Franziska Scheibe, Matthias Endres, Jan F. Scheitz & Christian Meisel
doi : 10.1007/s00415-023-11718-x
Post-stroke heart rate (HR) and heart rate variability (HRV) changes have been proposed as outcome predictors after stroke. We used data lake-enabled continuous electrocardiograms to assess post-stroke HR and HRV, and to determine the utility of HR and HRV to improve machine learning-based predictions of stroke outcome.
Retinal thickness as a biomarker of cognitive impairment in manifest Huntington’s disease
Ane Murueta-Goyena, RocÃo Del Pino, Marian Acera, Sara Teijeira-Portas, David Romero, Unai Ayala, Tamara Fernández-Valle, Beatriz Tijero, Iñigo Gabilondo & Juan Carlos Gómez Esteban
doi : 10.1007/s00415-023-11720-3
Cognitive decline has been reported in premanifest and manifest Huntington’s disease but reliable biomarkers are lacking. Inner retinal layer thickness seems to be a good biomarker of cognition in other neurodegenerative diseases.
Serum neurofilament light chain levels are associated with all-cause mortality in the general US population
Stefano Ciardullo, Emanuele Muraca, Eleonora Bianconi, Celeste Ronchetti, Rosa Cannistraci, Laura Rossi, Silvia Perra, Francesca Zerbini & Gianluca Perseghin
doi : 10.1007/s00415-023-11739-6
Serum neurofilament light chain (sNfL) levels are biomarkers of neuro-axonal injury in multiple neurological diseases. Little is known on their potential role as prognostic markers in people without known neurological conditions.
Unraveling the heterogeneous pathological substrates of relapse-onset multiple sclerosis: a multiparametric voxel-wise 3Â T MRI study
Monica Margoni, Elisabetta Pagani, Paolo Preziosa, Mor Gueye, Matteo Azzimonti, Maria A. Rocca & Massimo Filippi
doi : 10.1007/s00415-023-11736-9
In multiple sclerosis (MS), pathological processes affecting brain gray (GM) and white matter (WM) are heterogeneous.
A multimodal marker for cognitive functioning in multiple sclerosis: the role of NfL, GFAP and conventional MRI in predicting cognitive functioning in a prospective clinical cohort
Maureen van Dam, Brigit A. de Jong, Eline A. J. Willemse, Ilse M. Nauta, Marijn Huiskamp, Martin Klein, Bastiaan Moraal, Sanne de Geus-Driessen, Jeroen J. G. Geurts, Bernard M. J. Uitdehaag, Charlotte E. Teunissen & Hanneke E. Hulst
doi : 10.1007/s00415-023-11676-4
Cognitive impairment in people with MS (PwMS) has primarily been investigated using conventional imaging markers or fluid biomarkers of neurodegeneration separately. However, the single use of these markers do only partially explain the large heterogeneity found in PwMS.
Long-term efficacy and safety of ravulizumab in adults with anti-acetylcholine receptor antibody-positive generalized myasthenia gravis: results from the phase 3 CHAMPION MG open-label extension
Andreas Meisel, Djillali Annane, Tuan Vu, Renato Mantegazza, Masahisa Katsuno, Rasha Aguzzi, Glen Frick, Laura Gault, James F. Howard Jr. on behalf of the CHAMPION MG Study Group
doi : 10.1007/s00415-023-11699-x
Ravulizumab demonstrated efficacy and an acceptable safety profile versus placebo in the randomized controlled period (RCP) of the phase 3 CHAMPION MG trial in patients with anti-acetylcholine receptor antibody-positive generalized myasthenia gravis. We report an interim analysis of the ongoing open-label extension (OLE) designed to evaluate long-term treatment effects.
Antiplatelet therapy may improve the prognosis of patients with moyamoya disease: a 12-year retrospective study
Yuting Luo, Zhixin Cao, Heng Ye, Shaoqing Wu & Xunsha Sun
doi : 10.1007/s00415-023-11702-5
The clinical value of antiplatelet therapy (APT) for moyamoya disease (MMD) remains controversial. Our study attempts to clarify the value of APT in this disease.
Comparison of spinal magnetic resonance imaging and classical clinical factors in predicting motor capacity in amyotrophic lateral sclerosis
M. Khamaysa, M. Lefort, M. Pélégrini-Issac, A. Lackmy-Vallée, A. Preuilh, D. Devos, A.-S. Rolland, C. Desnuelle, M. Chupin, V. Marchand-Pauvert, G. Querin, Pierre-François Pradat on behalf of the Pulse study group
doi : 10.1007/s00415-023-11727-w
Motor capacity is crucial in amyotrophic lateral sclerosis (ALS) clinical trial design and patient care. However, few studies have explored the potential of multimodal MRI to predict motor capacity in ALS. This study aims to evaluate the predictive value of cervical spinal cord MRI parameters for motor capacity in ALS compared to clinical prognostic factors.
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis
Eugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Már Tulinius, Maria Bernadete Dutra de Resende, Lauren P. Morgenroth, Heather Gordish-Dressman, Shelley Johnson, Allan Kristensen, Christian Werner, Panayiota Trifillis, Erik K. Henricson, Craig M. McDonald on behalf of the STRIDE and CINRG DNHS investigators
doi : 10.1007/s00415-023-11687-1
Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, international, multicenter registry of real-world ataluren use in individuals with nonsense mutation Duchenne muscular dystrophy (nmDMD) in clinical practice.
Encephalitis in HIV-infected adults in the antiretroviral therapy era
Melissa Reimer-Mcatee, Denisse Ramirez, Casey Mcatee, Alejandro Granillo & Rodrigo Hasbun
doi : 10.1007/s00415-023-11735-w
Encephalitis presents with high morbidity and mortality in both HIV-infected and HIV-negative patients. There are currently no studies comparing HIV-infected and HIV-negative patients admitted to the hospital with acute encephalitis.
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
Karina Paliotti, Christelle Dassi, Saoussen Berrahmoune, Marlin Liz Bejaran, Carlos Eduardo Valera Davila, Ariadna Borràs Martinez, Maria Carme Fons Estupiñà , Maria Margherita Mancardi, Antonella Riva, Thea Giacomini, Mariasevina Severino, Romina Romaniello, François Dubeau, Myriam Srour & Kenneth A. Myers
doi : 10.1007/s00415-023-11724-z
Periventricular nodular heterotopia (PVNH) is a congenital brain malformation often associated with seizures. We aimed to clarify the spectrum of epilepsy phenotypes in PVNH and the significance of specific brain malformation patterns.
Muscle MRI patterns for limb girdle muscle dystrophies: systematic review
Issa Alawneh, Ana Stosic & Hernan Gonorazky
doi : 10.1007/s00415-023-11722-1
Limb girdle muscle dystrophies (LGMDs) are a group of inherited neuromuscular disorders comprising more than 20 genes. There have been increasing efforts to characterize this group with Muscle MRI.
Decreased aperiodic neural activity in Parkinson’s disease and dementia with Lewy bodies
Yevgenia Rosenblum, Tamara Shiner, Noa Bregman, Nir Giladi, Inbal Maidan, Firas Fahoum & Anat Mirelman
doi : 10.1007/s00415-023-11728-9
Neural oscillations and signal complexity have been widely studied in neurodegenerative diseases, whereas aperiodic activity has not been explored yet in those disorders. Here, we assessed whether the study of aperiodic activity brings new insights relating to disease as compared to the conventional spectral and complexity analyses.
Genetic characterization of primary lateral sclerosis
Eva M. J. de Boer, Balint S. de Vries, Maartje Pennings, Erik-Jan Kamsteeg, Jan H. Veldink, Leonard H. van den Berg & Michael A. van Es
doi : 10.1007/s00415-023-11746-7
Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. Most patients present with slowly progressive spasticity of the legs, which may also spread to the arms or bulbar regions.
Gadolinium contrast agents: dermal deposits and potential effects on epidermal small nerve fibers
Heidrun H. Krämer, Patrick Bücker, Astrid Jeibmann, Henning Richter, Angela Rosenbohm, Johanna Jeske, Panoraia Baka, Christian Geber, Matthias Wassenberg, Tanja Fangerau, Uwe Karst, Anne Schänzer & Christoph van Thriel
doi : 10.1007/s00415-023-11740-z
Small fiber neuropathy (SFN) affects unmyelinated and thinly myelinated nerve fibers causing neuropathic pain with distal distribution and autonomic symptoms. In idiopathic SFN (iSFN), 30% of the cases, the underlying aetiology remains unknown.
Self-reported life-space mobility in the first year after ischemic stroke: longitudinal findings from the MOBITEC-Stroke project
Timo Hinrichs, Roland Rössler, Denis Infanger, Robert Weibel, Janine Schär, Eva-Maria Peters, Erja Portegijs, Taina Rantanen, Arno Schmidt-Trucksäss, Stefan T. Engelter & Nils Peters
doi : 10.1007/s00415-023-11748-5
Life-space mobility is defined as the size of the area in which a person moves about within a specified period of time. Our study aimed to characterize life-space mobility, identify factors associated with its course, and detect typical trajectories in the first year after ischemic stroke.
Cortical involvement in essential tremor with and without rest tremor: a machine learning study
Maria Giovanna Bianco, Andrea Quattrone, Alessia Sarica, Federica Aracri, Camilla Calomino, Maria Eugenia Caligiuri, Fabiana Novellino, Rita Nisticò, Jolanda Buonocore, Marianna Crasà , Maria Grazia Vaccaro & Aldo Quattrone
doi : 10.1007/s00415-023-11747-6
There is some debate on the relationship between essential tremor with rest tremor (rET) and the classic ET syndrome, and only few MRI studies compared ET and rET patients. This study aimed to explore structural cortical differences between ET and rET, to improve the knowledge of these tremor syndromes.
Identifying novel genes for amyotrophic lateral sclerosis by integrating human brain proteomes with genome-wide association data
Xiao-Jing Gu, Wei-Ming Su, Meng Dou, Zheng Jiang, Qing-Qing Duan, Han Wang, Yan-Ling Ren, Bei Cao, Yi Wang & Yong-Ping Chen
doi : 10.1007/s00415-023-11757-4
Genome-Wide Association Studies (GWAS) have identified numerous risk genes for Amyotrophic Lateral Sclerosis (ALS); however, the mechanisms by which these loci confer ALS risk are uncertain. This study aims to identify novel causal proteins in the brains of patients with ALS using an integrative analytical pipeline.
Microvascular involvement in migraine: an optical coherence tomography angiography study
Marina Romozzi, Giovanni Cuffaro, Eleonora Rollo, Roberta Mattei, Sofia Marcelli, Stanislao Rizzo, Paolo Calabresi, Serenella Servidei, Gustavo Savino & Catello Vollono
doi : 10.1007/s00415-023-11697-z
The aim of this study was to evaluate the microvasculature of the macula and the optic nerve in patients affected by migraine with aura (MA) and without aura (MO) by optical coherence tomography angiography (OCTA), comparing the findings with healthy controls (HC).
Memory-guided navigation in amyotrophic lateral sclerosis
Patrizia M. Maier, Deetje Iggena, Thomas Meyer, Carsten Finke & Christoph J. Ploner
doi : 10.1007/s00415-023-11753-8
Previous studies have yielded inconsistent results about hippocampal involvement in non-demented patients with amyotrophic lateral sclerosis (ALS). We hypothesized that testing of memory-guided spatial navigation i.e., a highly hippocampus-dependent behaviour, might reveal behavioural correlates of hippocampal dysfunction in non-demented ALS patients.
Dynamic changes of the direction and angle of radiographic ocular lateral deviation in patients with lateropulsion after stroke onset
Masatoshi Kamada, Chiaki Yokota, Shunsuke Murata, Daishi Doda, Kunihiro Nishimura & Hiroaki Nishizono
doi : 10.1007/s00415-023-11755-6
To examine if radiographic ocular lateral deviation (rOLD) could be provoked in stroke patients with mild-to-moderate lateropulsion according to vertical perception.
Prediction of underlying atrial fibrillation in patients with a cryptogenic stroke: results from the NOR-FIB Study
B. Ratajczak-Tretel, A. Tancin Lambert, R. Al-Ani, K. Arntzen, G. K. Bakkejord, H. M. O. Bekkeseth, V. Bjerkeli, G. Eldøen, A. K. Gulsvik, B. Halvorsen, G. A. Høie, H. Ihle-Hansen, H. Ihle-Hansen, S. Ingebrigtsen, C. Kremer, S. B. Krogseth, C. Kruuse, M. Kurz, I. Nakstad, V. Novotny, H. Næss, R. Qazi, M. K. Rezaj, D. M. Rørholt, NOR-FIB study group
doi : 10.1007/s00415-023-11680-8
Atrial fibrillation (AF) detection and treatment are key elements to reduce recurrence risk in cryptogenic stroke (CS) with underlying arrhythmia. The purpose of the present study was to assess the predictors of AF in CS and the utility of existing AF-predicting scores in The Nordic Atrial Fibrillation and Stroke (NOR-FIB) Study.
Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review
Meng-Wen Wang, Chu-Jun Wu & Zai-Qiang Zhang
doi : 10.1007/s00415-023-11760-9
Phenylketonuria (PKU) is the most prevalent congenital disease of amino acid metabolism. Neurological manifestations usually complicate PKU in untreated adult patients. This study describes neurological and imaging phenotypes of adult patients with untreated PKU.
Large diameter hemicraniectomy does not improve long-term outcome in malignant infarction
Dominik Lehrieder, Hans-Peter Müller, Jan Kassubek, Nils Hecht, Götz Thomalla, Dominik Michalski, Thomas Gattringer, Katja E. Wartenberg, Jörg Schultze-Amberger, Hagen Huttner, Joji B. Kuramatsu, Silke Wunderlich, Hans-Herbert Steiner, Karin Weissenborn, Suzette Heck, Albrecht Günther, Hauke Schneider, Sven Poli, Christian Dohmen, Johannes Woitzik, Eric Jüttler & Hermann Neugebauer on behalf of the DESTINY-R (DEcompressive Surgery for the Treatment of malignant INfarction of the middle cerebral arterY - Registry) Study Group and IGNITE (Initiative of German NeuroIntensive Trial Engagement) Study Group
doi : 10.1007/s00415-023-11766-3
In malignant cerebral infarction decompressive hemicraniectomy has demonstrated beneficial effects, but the optimum size of hemicraniectomy is still a matter of debate. Some surgeons prefer a large-sized hemicraniectomy with a diameter of more than 14 cm (HC > 14). We investigated whether this approach is associated with reduced mortality and an improved long-term functional outcome compared to a standard hemicraniectomy with a diameter of less than 14 cm (HC ≤ 14).
Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBSâ„¢) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients
Edoardo Nicolò Aiello, Federica Solca, Lucia Catherine Greco, Silvia Torre, Laura Carelli, Claudia Morelli, Alberto Doretti, Eleonora Colombo, Stefano Messina, Debora Pain, Alice Radici, Andrea Lizio, Jacopo Casiraghi, Federica Cerri, Susan Woolley, Jennifer Murphy, Lucio Tremolizzo, Ildebrando Appollonio, Federico Verde, Valeria Ada Sansone, Christian Lunetta, Vincenzo Silani, Nicola Ticozzi & Barbara Poletti
doi : 10.1007/s00415-023-11749-4
The present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) based on those on the ALS Cognitive Behavioral Screen (ALS-CBSâ„¢) in an Italian cohort of non-demented ALS patients.
Understanding social media: how its popularity could be used to advance medical education in stroke care?
Gustavo SaposnikÂ
doi : 10.1007/s00415-023-11743-w
The wide availability of social media (SM) has revolutionized human interactions and education in different settings (e.g., household, workplace, academic, hospitals). Nearly 60% of the global population spend a daily average of over 6 h of screen time. By facilitating audio, video, and interactive material, SM has reshaped users’ perceptions, choices, and communication.
Sequential and combined central retinal artery occlusion and anterior ischemic optic neuropathy in Fabry’s disease
André Sobral-Pinho, André Jorge, Pedro Fonseca, João Sargento-Freitas, João Durães, Ana Inês Martins, Maria Carmo Macário & João Lemos
Acetyl-DL-leucine in combination with memantine improves acquired pendular nystagmus caused by multiple sclerosis: a case report
O. Kremmyda, K. Feil, S. Bardins & M. Strupp
Vestibular schwannoma presenting with Valsalva maneuver-induced nystagmus
Ana Abi�ić, Ivan Adamec, Ivan Jovanović & Mario Habek
Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
Zofia Fleszar, Claudia Dufke, Marc Sturm, Rebecca Schüle, Ludger Schöls, Tobias B. Haack & Matthis Synofzik
Autoimmune encephalitis: recent clinical and biological advances
James A. Varley, Christine Strippel, Adam Handel & Sarosh R. Irani
doi : 10.1007/s00415-023-11685-3
In 2015, we wrote a review in The Journal of Neurology summarizing the field of autoantibody-associated neurological diseases. Now, in 2023, we present an update of the subject which reflects the rapid expansion and refinement of associated clinical phenotypes, further autoantibody discoveries, and a more detailed understanding of immunological and neurobiological pathophysiological pathways which mediate these diseases.
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD): current understanding and challenges
Abdullah Al-Ani, John J. Chen & Fiona Costello
doi : 10.1007/s00415-023-11737-8
New diagnostic criteria for myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) have recently been proposed, distinguishing this syndrome from other inflammatory diseases of the central nervous system.
Path from discovery to recovery: therapeutic and diagnostic advances in Alzheimer's dementia
Aung M. Saw, James Hrastelj & Neil P. Robertson
John Charles Bucknill (1817–1897)
Andrew J. Larner & Christopher Gardner-Thorpe
Correction to: Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus
Amanda J. Male, Sarah L. Holmes, Michael G. Hanna, Robert D. S. Pitceathly, Gita M. Ramdharry & Diego Kaski
