journal
https://read.qxmd.com/read/38771386/anti-neurofascin-155-antibody-mediated-a-distinct-phenotype-of-chronic-inflammatory-demyelinating-polyradiculoneuropathy
#1
JOURNAL ARTICLE
Lijie Zhang, Yuanyuan Zhang, Runyun Li, Jiting Zhu, Aiyu Lin, Yaping Yan, Zaiqiang Zhang, Ning Wang, Guorong Xu, Ying Fu
BACKGROUND: To investigate Ranvier's autoantibodies prevalence and isotypes in various peripheral neuropathy variants, compare clinical features between seronegative and seropositive patients, and elucidate immune mechanisms underlying antibody generation. METHODS: Antibodies against anti-neurofascin-155 (NF155), NF186, contactin-1 (CNTN1), CNTN2, contactin-associated protein 1 (CASPR1), and CASPR2 were identified through cell-based assays. Plasma cytokines were analyzed in anti-NF155 antibody-positive chronic inflammatory demyelinating polyneuropathy (NF155+ CIDP) and Ranvier's antibodies-negative CIDP (Ab- CIDP) patients using a multiplexed fluorescent immunoassay, validated in vitro in a cell culture model...
May 21, 2024: Journal of Neurology
https://read.qxmd.com/read/38771385/moving-towards-a-new-era-for-the-treatment-of-neuromyelitis-optica-spectrum-disorders
#2
REVIEW
Paolo Preziosa, Maria Pia Amato, Luca Battistini, Marco Capobianco, Diego Centonze, Eleonora Cocco, Antonella Conte, Claudio Gasperini, Matteo Gastaldi, Carla Tortorella, Massimo Filippi
Neuromyelitis optica spectrum disorders (NMOSD) include a rare group of autoimmune conditions that primarily affect the central nervous system. They are characterized by inflammation and damage to the optic nerves, brain and spinal cord, leading to severe vision impairment, locomotor disability and sphynteric disturbances. In the majority of cases, NMOSD arises due to specific serum immunoglobulin G (IgG) autoantibodies targeting aquaporin 4 (AQP4-IgG), which is the most prevalent water-channel protein of the central nervous system...
May 21, 2024: Journal of Neurology
https://read.qxmd.com/read/38771384/neurological-symptoms-in-adults-with-gaucher-disease-a-systematic-review
#3
REVIEW
Gabriele Imbalzano, Claudia Ledda, Alberto Romagnolo, Anna Covolo, Leonardo Lopiano, Carlo Alberto Artusi
INTRODUCTION: Gaucher disease (GD) is classically divided into three types, based on the presence or absence of neurological signs and symptoms. However, presentation can be highly variable in adulthood, and this aspect has not been adequately addressed in the literature so far. We performed a systematic literature review to analyze the entire spectrum of neurological manifestations in adult patients previously classified as GD type I, II, or III, evaluating the role of variants in different neurological manifestations...
May 21, 2024: Journal of Neurology
https://read.qxmd.com/read/38769257/success-rates-of-intensive-aphasia-therapy-real-world-data-from-448-patients-between-2003-and-2020
#4
JOURNAL ARTICLE
Dorothea Peitz, Beate Schumann-Werner, Katja Hussmann, João Pinho, Hong Chen, Ferdinand Binkofski, Walter Huber, Klaus Willmes, Stefan Heim, Jörg B Schulz, Bruno Fimm, Cornelius J Werner
BACKGROUND: Aphasia is a devastating consequence after stroke, affecting millions of patients each year. Studies have shown that intensive speech and language therapy (SLT) is effective in the chronic phase of aphasia. Leveraging a large single-center cohort of persons with aphasia (PWA) including patients also in the subacute phase, we assessed treatment effects of intensive aphasia therapy in a real-world setting. METHODS: Data were collected at the Aachen aphasia ward in Germany between 2003 and 2020...
May 20, 2024: Journal of Neurology
https://read.qxmd.com/read/38767661/clinical-paraclinical-and-outcome-features-of-166-patients-with-acute-anti-gq1b-antibody-syndrome
#5
JOURNAL ARTICLE
Martin Coly, David Adams, Shahram Attarian, Françoise Bouhour, Jean-Philippe Camdessanché, Guillaume Carey, Cécile Cauquil, Jean-Baptiste Chanson, Pascale Chrétien, Alain Créange, Emilien Delmont, Guillaume Fargeot, Simon Frachet, Thierry Gendre, Thierry Kuntzer, Céline Labeyrie, Thierry Maisonobe, Maud Michaud, Maximilien Moulin, Guillaume Nicolas, Jean-Baptiste Noury, Yann Péréon, Angela Puma, Guilhem Sole, Frédéric Taithe, Céline Tard, Marie Théaudin, Serge Timsit, Laura Venditti, Andoni Echaniz-Laguna
BACKGROUND & PURPOSE: In this retrospective study, we aimed at defining the clinical, paraclinical and outcome features of acute neurological syndromes associated with anti-GQ1b antibodies. RESULTS: We identified 166 patients with neurological symptoms appearing in less than 1 month and anti-GQ1b antibodies in serum between 2012 and 2022. Half were female (51%), mean age was 50 years (4-90), and the most frequent clinical features were areflexia (80% of patients), distal upper and lower limbs sensory symptoms (78%), ophthalmoplegia (68%), sensory ataxia (67%), limb muscle weakness (45%) and bulbar weakness (45%)...
May 20, 2024: Journal of Neurology
https://read.qxmd.com/read/38761192/overcoming-traps-and-pitfalls-leading-to-misinterpretation-of-normal-eeg-variants-and-variation-of-the-background-activity
#6
REVIEW
Philippe Gélisse, Selim R Benbadis, Arielle Crespel, William O Tatum
Normal EEG variants, especially the epileptiform variants, can be challenging to interpret because they often have sharp contours and may be confused with "epileptic" interictal activities. However, they can be recognized by the fact that "most spikes or sharp wave discharges of clinical import are followed by a slow wave or a series of slow deflections" (Maulsby, 1971). If there is no wave after the spike, electroencephalographers should be suspicious of artifacts and normal EEG variants. Most normal EEG variants display a single rhythm with the same frequency within the pattern and the morphology remains stable throughout the entire EEG recording with repetition of the same pattern...
May 18, 2024: Journal of Neurology
https://read.qxmd.com/read/38761191/validation-of-a-risk-score-to-differentiate-autoimmune-and-viral-encephalitis-a-nationwide-cohort-study-in-denmark
#7
JOURNAL ARTICLE
Lasse Fjordside, Mette Scheller Nissen, Anna Maria Florescu, Merete Storgaard, Lykke Larsen, Lothar Wiese, Hans Rudolf von Lüttichau, Micha Phill Grønholm Jepsen, Birgitte Rønde Hansen, Christian Østergaard Andersen, Jacob Bodilsen, Henrik Nielsen, Morten Blaabjerg, Anne-Mette Lebech, Helene Mens
BACKGROUND: A score to differentiate autoimmune (AE) and viral encephalitis (VE) early upon admission has recently been developed but needed external validation. The objective of this study was to evaluate the performance of the score in a larger and more diagnostically diverse patient cohort. METHODS: We conducted a retrospective nationwide and population-based cohort study including all adults with encephalitis of definite viral (2015-2022) or autoimmune aetiology (2009-2022) in Denmark...
May 18, 2024: Journal of Neurology
https://read.qxmd.com/read/38758282/profiles-of-motivational-impairment-and-their-relationship-to-functional-decline-in-frontotemporal-dementia
#8
JOURNAL ARTICLE
Siobhán R Shaw, Kristina S Horne, Olivier Piguet, Rebekah M Ahmed, Alexis E Whitton, Muireann Irish
Motivational disturbances are pervasive in frontotemporal dementia (FTD) and impact negatively on everyday functioning. Despite mounting evidence of anhedonia in FTD, it remains unclear how such changes fit within the broader motivational symptom profile of FTD, or how anhedonia relates to functional outcomes. Here we sought to comprehensively characterize motivational disturbances in FTD and their respective relationships with functional impairment. A cross-sectional study design was used including 211 participants-68 behavioral-variant FTD (bvFTD), 32 semantic dementia (SD), 43 Alzheimer's disease (AD), and 68 healthy older control participants...
May 17, 2024: Journal of Neurology
https://read.qxmd.com/read/38758281/expanding-the-genetic-and-phenotypic-relevance-of-clcn4-variants-in-neurodevelopmental-condition-13-new-patients
#9
JOURNAL ARTICLE
Hailan He, Xinyi Li, G A Guzman, Stefanie Bungert-Plümke, Arne Franzen, XueQin Lin, Hongmin Zhu, Guilan Peng, Hongwei Zhang, Yonglin Yu, Suzhen Sun, Zhongqin Huang, Qiongxiang Zhai, Zheng Chen, Jing Peng, Raul E Guzman
OBJECTIVES: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants. METHODS: We described 13 individuals with CLCN4-related neurodevelopmental disorder. We analyzed the functional consequence of the unreported variants using heterologous expression, biochemistry, confocal fluorescent microscopy, patch-clamp electrophysiology, and minigene splicing assay...
May 17, 2024: Journal of Neurology
https://read.qxmd.com/read/38758280/diagnostic-criteria-for-mogad
#10
JOURNAL ARTICLE
Sophie Voase, Neil P Robertson
No abstract text is available yet for this article.
May 17, 2024: Journal of Neurology
https://read.qxmd.com/read/38758279/neuroimaging-assessment-of-facility-bound-severely-affected-ms-reveals-the-critical-role-of-cortical-gray-matter-pathology-results-from-the-casa-ms-case-controlled-study
#11
JOURNAL ARTICLE
Robert Zivadinov, Dejan Jakimovski, Alex Burnham, Jens Kuhle, Zachary Weinstock, Taylor R Wicks, Murali Ramanathan, Tommaso Sciortino, Mark Ostrem, Christopher Suchan, Michael G Dwyer, Jessica Reilly, Niels Bergsland, Ferdinand Schweser, Cheryl Kennedy, David Young-Hong, Svetlana Eckert, David Hojnacki, Ralph H B Benedict, Bianca Weinstock-Guttman
BACKGROUND: A subgroup of people with multiple sclerosis (pwMS) will develop severe disability. The pathophysiology underlying severe MS is unknown. The comprehensive assessment of severely affected MS (CASA-MS) was a case-controlled study that compared severely disabled in skilled nursing (SD/SN) (EDSS ≥ 7.0) to less-disabled (EDSS 3.0-6.5) community dwelling (CD) progressive pwMS, matched on age-, sex- and disease-duration (DDM). OBJECTIVES: To identify neuroimaging and molecular biomarker characteristics that distinguish SD/SN from DDM-CD progressive pwMS...
May 17, 2024: Journal of Neurology
https://read.qxmd.com/read/38755424/incidence-of-intracranial-bleeding-in-mild-traumatic-brain-injury-patients-taking-oral-anticoagulants-a-systematic-review-and-meta-analysis
#12
REVIEW
Armin Karamian, Ali Seifi, Amin Karamian, Brandon Lucke-Wold
BACKGROUND: Traumatic brain injury (TBI) is one of the leading causes of disability and death worldwide. Most TBI cases occur in older people, because they are at a higher risk of accidental falling. As the population ages, the use of anticoagulants is increasing. Some serious complications of TBI, such as intracranial hemorrhage (ICH), may occur even in mild cases. According to the current guidelines regarding managing mild TBI patients, a CT head scan is recommended for all patients receiving anticoagulation...
May 16, 2024: Journal of Neurology
https://read.qxmd.com/read/38753228/predictors-of-futile-recanalization-in-nonagenarians-treated-with-mechanical-thrombectomy-a-multi-center-observational-study
#13
JOURNAL ARTICLE
Lucio D'Anna, Giovanni Merlino, Michele Romoli, Liqun Zhang, Caterina Del Regno, Mohammed Aggour, Viva Levee, Matteo Foschi, Massimo Sponza, Francesco Toraldo, Razan Algazlan, Maria Ruggiero, Marco Longoni, Kyriakos Lobotesis, Samir Abu-Rumeileh, Daniele Bagatto, Nina Mansoor, Gian Luigi Gigli, Mariarosaria Valente, Soma Banerjee
BACKGROUND: There is a lack of data regarding patients aged 90 years or older undergoing mechanical thrombectomy and their predictors of futile recanalization. AIMS: We sought to evaluate the predictors of futile recanalization in patients ≥ 90 years with large vessel occlusion undergoing mechanical thrombectomy. METHODS: This multi-center observational retrospective study included patients ≥ 90 years consecutively treated with mechanical thrombectomy in four thrombectomy capable centers between January 1st, 2016 and 30th March 2023...
May 16, 2024: Journal of Neurology
https://read.qxmd.com/read/38748235/postural-motion-perception-during-vestibular-stimulation-depends-on-the-motion-perception-threshold-in-persistent-postural-perceptual-dizziness
#14
JOURNAL ARTICLE
Christoph Helmchen, Smila-Karlotta Blüm, Renana Storm, Janina Krause, Andreas Sprenger
Patients with persistent postural-perceptual dizziness (PPPD) perceive postural instability larger than the observed sway. It is unknown whether the concept of postural misperception prevails during vestibular stimulation and whether it may account for the unsteadiness patients complain during body movements. We tested the hypothesis of an abnormal sensory-perceptual scaling mechanism in PPPD by recording objective, perceived, and the reproduced postural sway under various standing conditions, modulating visual and proprioceptive input, by binaural galvanic vestibular stimulation (GVS)...
May 15, 2024: Journal of Neurology
https://read.qxmd.com/read/38743090/regional-hippocampal-atrophy-reflects-memory-impairment-in-patients-with-early-relapsing-remitting-multiple-sclerosis
#15
JOURNAL ARTICLE
Rosa Cortese, Marco Battaglini, Maria Laura Stromillo, Ludovico Luchetti, Matteo Leoncini, Giordano Gentile, Daniele Gasparini, Domenico Plantone, Manuela Altieri, Alessandro D'Ambrosio, Antonio Gallo, Costanza Giannì, Claudia Piervincenzi, Patrizia Pantano, Elisabetta Pagani, Paola Valsasina, Paolo Preziosa, Nicolo' Tedone, Maria Assunta Rocca, Massimo Filippi, Nicola De Stefano
BACKGROUND: Research work has shown that hippocampal subfields are atrophic to varying extents in multiple sclerosis (MS) patients. However, studies examining the functional implications of subfield-specific hippocampal damage in early MS are limited. We aim to gain insights into the relationship between hippocampal atrophy and memory function by investigating the correlation between global and regional hippocampal atrophy and memory performance in early MS patients. METHODS: From the Italian Neuroimaging Network Initiative (INNI) dataset, we selected 3D-T1-weighted brain MRIs of 219 early relapsing remitting (RR)MS and 246 healthy controls (HC) to identify hippocampal atrophic areas...
May 14, 2024: Journal of Neurology
https://read.qxmd.com/read/38743089/optical-coherence-tomography-angiography-suggests-different-retinal-pathologies-in-multiple-sclerosis-and-sj%C3%A3-gren-s-syndrome
#16
JOURNAL ARTICLE
Elisabeth Wolf, Rebecca Wicklein, Lilian Aly, Christoph Schmaderer, Ali Maisam Afzali, Christian Mardin, Thomas Korn, Bernhard Hemmer, Benedikt Hofauer, Benjamin Knier
BACKGROUND: While retinal vessel changes are evident in the eyes of patients with relapsing-remitting multiple sclerosis (RRMS), changes in the vasculature of possible MS mimics such as primary Sjögren's syndrome (pSS) remain to be determined. We investigated the potential of retinal optical coherence tomography (OCT) angiography (OCTA) as diagnostic tool to differentiate between patients with RRMS and pSS. METHODS: This cross-sectional study included patients with RRMS (n = 36), pSS (n = 36) and healthy controls (n = 30)...
May 14, 2024: Journal of Neurology
https://read.qxmd.com/read/38733388/pioneers-in-neurology-a-silver-anniversary-perspective
#17
EDITORIAL
Andrew J Larner, Jan van Gijn, Lazaros C Triarhou
No abstract text is available yet for this article.
May 11, 2024: Journal of Neurology
https://read.qxmd.com/read/38733387/jewelfish-24-month-results-from-an-open-label-study-in-non-treatment-na%C3%A3-ve-patients-with-sma-receiving-treatment-with-risdiplam
#18
JOURNAL ARTICLE
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni
Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated the safety, tolerability, pharmacokinetics (PK), and PK/pharmacodynamic (PD) relationship of risdiplam in non-treatment-naïve patients with SMA. JEWELFISH enrolled adult and pediatric patients (N = 174) with confirmed diagnosis of 5q-autosomal recessive SMA who had previously received treatment with nusinersen (n = 76), onasemnogene abeparvovec (n = 14), olesoxime (n = 71), or were enrolled in the MOONFISH study (NCT02240355) of the splicing modifier RG7800 (n = 13)...
May 11, 2024: Journal of Neurology
https://read.qxmd.com/read/38730098/the-influence-of-depression-and-anxiety-on-cognition-in-people-with-multiple-sclerosis-a-cross-sectional-analysis
#19
JOURNAL ARTICLE
David E Freedman, Jiwon Oh, Alex Kiss, Juliana Puopolo, Margaret Wishart, Cecilia Meza, Anthony Feinstein
There are conflicting findings about the relationships between depression, anxiety, and cognitive dysfunction in people with multiple sclerosis (MS), and a paucity of research has examined the cumulative influence on cognition of depression plus anxiety. This study aimed to determine whether elevated symptoms of depression and anxiety alone or in combination are associated with worse cognition in people with MS. In this cross-sectional analysis, people with MS consecutively seen at a tertiary neuropsychiatry clinic completed the Hospital Anxiety and Depression Scale for symptoms of depression (HADS-D) and anxiety (HADS-A), and the Minimal Assessment of Cognitive Function in MS for cognitive indices...
May 11, 2024: Journal of Neurology
https://read.qxmd.com/read/38730097/long-term-clinical-outcomes-in-patients-with-cis-treated-with-interferon-beta-1b-results-from-the-15-year-follow-up-of-the-benefit-trial
#20
JOURNAL ARTICLE
Ludwig Kappos, Gilles Edan, Mark S Freedman, Hans-Peter Hartung, Xavier Montalbán, Frederik Barkhof, Ralf Koelbach, David G MacManus, Eva-Maria Wicklein
Multiple sclerosis (MS) treatment intervention with immunomodulating therapy at early disease stage improves short term clinical outcomes. The objective of this study is to describe the long-term outcomes and healthcare utilization of patients with clinically isolated syndrome (CIS) included in the Betaferon®/Betaseron® in Newly Emerging MS for Initial Treatment (BENEFIT) randomized, parallel group trial. In BENEFIT patients were assigned to "early" IFNB-1b treatment or placebo ("delayed" treatment)...
May 10, 2024: Journal of Neurology
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