journal
https://read.qxmd.com/read/37733102/correction-to-daytime-sleepiness-and-sleep-quality-in-charcot-marie-tooth-disease
#1
Marta Bellofatto, Luca Gentile, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano C Previtali, Marina Scarlato, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Flavio Villani, Eleonora Cavalca, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Giuseppe Didato, Chiara Pisciotta, Davide Pareyson
No abstract text is available yet for this article.
September 21, 2023: Journal of Neurology
https://read.qxmd.com/read/37728757/long-term-outcome-of-natalizumab-associated-progressive-multifocal-leukoencephalopathy-in-austria-a-nationwide-retrospective-study
#2
JOURNAL ARTICLE
Tobias Moser, Georg Zimmermann, Anna Baumgartner, Thomas Berger, Gabriel Bsteh, Franziska Di Pauli, Christian Enzinger, Elisabeth Fertl, Thomas Heller, Stefan Koppi, Paulus S Rommer, Georg Safoschnik, Thomas Seifert-Held, Robert Stepansky, Johann Sellner
BACKGROUND/OBJECTIVE: The use of natalizumab (NAT) in multiple sclerosis (MS) may be complicated by progressive multifocal leukoencephalopathy (PML), a rare and life-threatening opportunistic brain infection. We aimed to analyze the course of MS after PML recovery together with the long-term outcome of NAT-associated PML (NAT-PML) in Austria. METHODS: Retrospective study based on identification of cases in the nationwide Austrian MS treatment registry (AMSTR) and MS centers with review of patient records...
September 20, 2023: Journal of Neurology
https://read.qxmd.com/read/37725109/liquid-biopsy-of-cerebrospinal-fluid-enabling-the-detection-and-therapeutic-targeting-of-the-braf-v600e-mutation-in-a-patient-with-overlapping-erdheim-chester-rosai-dorfman-disease
#3
LETTER
Valentina Pieri, Giulia Berzero, Rosina Paterra, Laura Ferré, Alessandro Tomelleri, Corrado Campochiaro, Federica Esposito, Teresa Calimeri, Maria Giulia Cangi, Nazario Pio Tenace, Andrés José María Ferreri, Antonella Castellano, Maurizio Barbera, Nicoletta Anzalone, Lorenzo Gabriel Gay, Lorenzo Bello, Maurizio Colecchia, Maurilio Ponzoni, Gaetano Finocchiaro, Massimo Filippi
No abstract text is available yet for this article.
September 19, 2023: Journal of Neurology
https://read.qxmd.com/read/37716917/multimodal-mri-study-on-the-relation-between-wm-integrity-and-connected-gm-atrophy-and-its-effect-on-disability-in-early-multiple-sclerosis
#4
JOURNAL ARTICLE
Merlin M Weeda, D R van Nederpelt, J W R Twisk, I Brouwer, J P A Kuijer, M van Dam, H E Hulst, J Killestein, F Barkhof, H Vrenken, P J W Pouwels
BACKGROUND: Multiple sclerosis (MS) is characterized by pathology in white matter (WM) and atrophy of grey matter (GM), but it remains unclear how these processes are related, or how they influence clinical progression. OBJECTIVE: To study the spatial and temporal relationship between GM atrophy and damage in connected WM in relapsing-remitting (RR) MS in relation to clinical progression. METHODS: Healthy control (HC) and early RRMS subjects visited our center twice with a 1-year interval for MRI and clinical examinations, including the Expanded Disability Status Scale (EDSS) and Multiple Sclerosis Functional Composite (MSFC) scores...
September 17, 2023: Journal of Neurology
https://read.qxmd.com/read/37715789/intravenous-or-subcutaneous-natalizumab-in-patients-with-relapsing-remitting-multiple-sclerosis-investigation-on-efficiency-and-savings-the-easier-study
#5
JOURNAL ARTICLE
Massimo Filippi, Luigi Grimaldi, Antonella Conte, Rocco Totaro, Maria Rosaria Valente, Simona Malucchi, Franco Granella, Cinzia Cordioli, Vincenzo Brescia Morra, Chiara Zanetta, Daria Perini, Laura Santoni
INTRODUCTION: EASIER is a multicenter, observational, cross-sectional study investigating the consumption of healthcare resources, including healthcare professional (HCP) active working time, the costs associated with the current natalizumab intravenous (IV) administration, and the potential impact of the adoption of subcutaneous (SC) route. METHODS: The EASIER study has three parts: (1) time and motion study to measure healthcare resources and working time needed for natalizumab IV administration using a digital data collection tool operated directly by HCPs; (2) HCP structured questionnaire-based estimation of the potential impact of natalizumab SC vs...
September 16, 2023: Journal of Neurology
https://read.qxmd.com/read/37713127/impairment-of-oculomotor-functions-in-patients-with-early-to-advanced-amyotrophic-lateral-sclerosis
#6
JOURNAL ARTICLE
Elisa Aust, Sven-Thomas Graupner, René Günther, Katharina Linse, Markus Joos, Julian Grosskreutz, Johannes Prudlo, Sebastian Pannasch, Andreas Hermann
Amyotrophic lateral sclerosis (ALS) can result into an incomplete locked in state (iLIS), in which communication depends on eye tracking computer devices. Oculomotor function impairments in ALS have been reported, but there is little research, particularly with respect to patients in iLIS. In the present study, we compared reflexive and executive oculomotor function by means of an eye tracking test battery between three groups: advanced ALS patients in iLIS (n = 22), patients in early to middle ALS stages (n = 44) and healthy subjects (n = 32)...
September 15, 2023: Journal of Neurology
https://read.qxmd.com/read/37709946/characterizing-cognitive-function-in-patients-with-autoimmune-encephalitis-an-australian-prospective-study
#7
JOURNAL ARTICLE
Sarah P Griffith, Robb Wesselingh, Nabil Seery, Tiffany Rushen, Chris Kyndt, Brian Long, Udaya Seneviratne, Katherine Buzzard, Helmut Butzkueven, Terence J O'Brien, Rubina Alpitsis, Charles B Malpas, Mastura Monif
OBJECTIVE: This study uses the Wechsler intelligence and memory scales to characterize the cognitive function of patients with autoimmune encephalitis (AE) in the chronic stage of the disease. AE is a group of neuroinflammatory disorders, and cognitive impairment is a significant source of chronic morbidity in these patients. METHODS: Fifty patients with an average disease duration of 3.2 years after diagnosis were prospectively recruited from four hospitals...
September 14, 2023: Journal of Neurology
https://read.qxmd.com/read/37698616/robust-real-world-evidence-optimising-disease-modifying-treatments-for-multiple-sclerosis
#8
JOURNAL ARTICLE
C McArthur, C Daruwalla, M Jayeskara, J W L Brown
No abstract text is available yet for this article.
September 12, 2023: Journal of Neurology
https://read.qxmd.com/read/37698615/mri-abnormalities-in-creutzfeldt-jakob-disease-and-other-rapidly-progressive-dementia
#9
JOURNAL ARTICLE
Renzo Manara, Federica Fragiacomo, Anna Ladogana, Luana Vaianella, Giulia Camporese, Giovanni Zorzi, Sabrina Vicinanza, Gianluigi Zanusso, Maurizio Pocchiari, Annachiara Cagnin
OBJECTIVE: To investigate brain MRI abnormalities in a cohort of patients with rapidly progressive dementia (RPD) with and without a diagnosis of Creutzfeldt-Jakob disease (CJD). METHODS: One hundred and seven patients with diagnosis of prion disease (60 with definite sCJD, 33 with probable sCJD and 14 with genetic prion disease) and 40 non-prion related RPD patients (npRPD) underwent brain MRI including DWI and FLAIR. MRIs were evaluated with a semiquantitative rating score, which separately considered abnormal signal extent and intensity in 22 brain regions...
September 12, 2023: Journal of Neurology
https://read.qxmd.com/read/37695533/insomnia-and-sleep-disordered-breathing-in-fkrp-related-limb-girdle-muscular-dystrophy-r9-the-norwegian-lgmdr9-cohort-study-2020
#10
JOURNAL ARTICLE
Synnøve Jensen, Karin Abeler, Oddgeir Friborg, Assami Rosner, Caroline Olsborg, Svein Ivar Mellgren, Kai Ivar Müller, Andreas Dybesland Rosenberger, Monica L Vold, Kjell Arne Arntzen
Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts on health, functioning, and well-being. LGMDR9 may potentially affect sleep by physical or emotional symptoms, myalgia, or sleep-disordered breathing (SDB) through cardiorespiratory involvement. The objective was to investigate the occurrence of insomnia and unrecognized or untreated SDB in LGMDR9, associated factors, and relationships with fatigue and health-related quality of life (HRQoL)...
September 11, 2023: Journal of Neurology
https://read.qxmd.com/read/37695532/the-relationship-between-disease-specific-psychosocial-stressors-and-depressive-symptoms-in-huntington-s-disease
#11
JOURNAL ARTICLE
Hiba Bilal, Ian H Harding, Julie C Stout
BACKGROUND: Huntington's disease (HD) is an inherited neurodegenerative disease involving motor abnormalities, cognitive decline, and psychological difficulties. Depression is among the most common psychological difficulties in HD. People with HD encounter numerous stressors related to their diagnosis and the impact of HD on their daily lives. Understanding the relationship between HD-specific psychosocial stressors and depression symptoms is critical for optimising treatment and developing a holistic, disease-specific model of depression in HD...
September 11, 2023: Journal of Neurology
https://read.qxmd.com/read/37695531/acute-necrotizing-encephalopathy-associated-with-covid-19-case-series-and-systematic-review
#12
REVIEW
Chang Geng, Weili Zhao, Zhijun Wang, Jin Wu, Dongxiao Jiang, Nan Jiang, Mange Liu, Ming Yao, Hongzhi Guan
Acute necrotizing encephalopathy (ANE) is a rare neurological complication related to COVID-19. Here we present a case series of six Chinese cases with ANE associated with COVID-19 and review all reported cases in the literature. A total of six cases with ANE related to COVID-19 were enrolled in this study. Clinical manifestations, neuroimaging data, treatment and outcomes of these patients were analyzed. A literature review was performed in Pubmed and Embase and 25 cases with clinical and neuroimaging data were collected and analyzed...
September 11, 2023: Journal of Neurology
https://read.qxmd.com/read/37695530/hepatitis-b-reactivation-is-a-rare-event-among-patients-with-resolved-infection-undergoing-anti-cd20-antibodies-in-monotherapy-without-antiviral-prophylaxis-results-from-the-hebem-study
#13
JOURNAL ARTICLE
Blanca Marzo, Angela Vidal-Jordana, Joaquín Castilló, Miguel-Angel Robles-Sanchez, Susana Otero-Romero, Mar Tintore, Xavier Montalban, Maria Buti, Mar Riveiro-Barciela
INTRODUCTION: Prospective data on the risk of hepatitis B reactivation (HBVr) among patients with resolved HBV infection undergoing anti-CD20 antibodies monotherapy is scarce. We aimed to assess the risk of HBVr in patients with resolved HBV infection treated with rituximab or ocrelizumab in monotherapy for multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD) without antiviral prophylaxis. METHODS: HEBEM is a prospective study that included all consecutive adults HBsAg-negative/anti-HBc-positive who initiated anti-CD20 antibodies for MS or NMOSD at Cemcat...
September 11, 2023: Journal of Neurology
https://read.qxmd.com/read/37689591/pooled-analysis-of-patients-with-inherited-prion-disease-caused-by-two-to-twelve-octapeptide-repeat-insertions-in-the-prion-protein-gene-prnp
#14
JOURNAL ARTICLE
Astrid Van den Broecke, Alexander Decruyenaere, Nika Schuermans, Hannah Verdin, Jody Ghijsels, Anne Sieben, Bart Dermaut, Dimitri Hemelsoet
Inherited prion diseases caused by two- to twelve-octapeptide repeat insertions (OPRIs) in the prion protein gene (PRNP) show significant clinical heterogeneity. This study describes a family with two new cases with a 4-OPRI mutation and two asymptomatic mutation carriers. The pooled analysis summarizes all cases reported in the literature to date and describes the relation between survival, age of onset, number of OPRI and codon 129 polymorphism. MEDLINE and Google Scholar were queried from database inception up to December 31, 2022...
September 9, 2023: Journal of Neurology
https://read.qxmd.com/read/37688634/metronidazole-induced-cerebellar-dysfunction-preferentially-involving-the-saccadic-system
#15
LETTER
Ho-Jin Yoon, Joo-Hyeong Lee, Sun-Uk Lee, Ji-Soo Kim
No abstract text is available yet for this article.
September 9, 2023: Journal of Neurology
https://read.qxmd.com/read/37682317/correction-to-retrospective-observational-study-on-the-use-of-acetyl-l-carnitine-in-als
#16
Serena Sassi, Elisa Bianchi, Luca Diamanti, Danilo Tornabene, Elisabetta Sette, Doriana Medici, Sabrina Matà, Deborah Leccese, Martina Sperti, Ilaria Martinelli, Andrea Ghezzi, Jessica Mandrioli, Valentina Virginia Iuzzolino, Raffaele Dubbioso, Francesca Trojsi, Carla Passaniti, Giulia D'Alvano, Massimiliano Filosto, Alessandro Padovani, Letizia Mazzini, Fabiola De Marchi, Lucia Zinno, Andi Nuredini, Paolo Bongioanni, Cristina Dolciotti, Elena Canali, Giulia Toschi, Antonio Petrucci, Alessia Perna, Vittorio Riso, Maurizio Inghilleri, Laura Libonati, Chiara Cambieri, Elisabetta Pupillo
No abstract text is available yet for this article.
September 8, 2023: Journal of Neurology
https://read.qxmd.com/read/37682316/efgartigimod-beyond-myasthenia-gravis-the-role-of-fcrn-targeting-therapies-in-stiff-person-syndrome
#17
JOURNAL ARTICLE
Vincenzo Di Stefano, Paolo Alonge, Nicasio Rini, Massimiliano Militello, Antonino Lupica, Angelo Torrente, Filippo Brighina
Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder characterized by high titers of antibodies against glutamic acid decarboxylase (GAD) causing impaired GABAergic inhibitory neurotransmission. To date, there is not a defined therapy for such condition, but immunomodulating therapies, such as plasma exchange, intravenous immunoglobulins, and rituximab, have been widely used in clinical practice. However, the efficacy and tolerability of these treatments is not well established. Efgartigimod, a new neonatal Fc receptor (FcRn) blocker, is a human IgG1 antibody Fc fragment engineered with increased affinity for FcRn binding, leading to a reduction in IgGs levels, including pathogenic IgG autoantibody showing promising results in neurological autoimmune disorders and has been approved for the treatment of AChR-seropositive generalized myasthenia gravis (MG)...
September 8, 2023: Journal of Neurology
https://read.qxmd.com/read/37682315/pitfalls-and-biases-in-neuroepidemiological-studies-of-covid-19-and-the-nervous-system-a-critical-appraisal-of-the-current-evidence-and-future-directions
#18
REVIEW
Ettore Beghi, Andrei Ivashynka, Giancarlo Logroscino, Fabricio Ferreira de Oliveira, Jori E Fleisher, Oana M Dumitrascu, Roshni Patel, Rodolfo Savica, Yun Jin Kim
BACKGROUND: Neurological manifestations frequently occur in individuals with COVID-19, manifesting during the acute phase, persisting beyond the resolution of acute symptoms, and appearing days or weeks after the initial onset of COVID-19 symptoms. However, predicting the incidence, course, and outcome of these neurological manifestations at the individual patient level remains challenging. Biases in study design and limitations in data collection may contribute to the inconsistency and limited validity of the reported findings...
September 8, 2023: Journal of Neurology
https://read.qxmd.com/read/37676299/concurrence-of-seizures-and-peri-ictal-delirium-in-the-critically-ill%C3%A2-its-frequency-associated-characteristics-and-outcomes
#19
JOURNAL ARTICLE
Anja I Frei, Anna S Wagner, Sira M Baumann, Pascale Grzonka, Sebastian Berger, Sabina Hunziker, Stephan Rüegg, Stephan Marsch, Raoul Sutter
BACKGROUND: To assess the frequency, clinical features, and outcome of peri-ictal delirium in adult patients experiencing seizures during intensive care. METHODS: This observational study was conducted at a Swiss intensive care unit from 2015 to 2020. Patients aged ≥ 18 years with seizures were categorized as peri-ictal delirious (Intensive Care Delirium Screening Checklist [i.e., ICDSC] ≥ 4) or not (i.e., ICDSC < 4) within 24 h of seizures...
September 7, 2023: Journal of Neurology
https://read.qxmd.com/read/37676298/modifiable-risk-factors-for-multiple-sclerosis-have-consistent-directions-of-effect-across-diverse-ethnic-backgrounds-a-nested-case-control-study-in-an-english-population-based-cohort
#20
JOURNAL ARTICLE
Benjamin M Jacobs, Pooja Tank, Jonathan P Bestwick, Alastair J Noyce, Charles R Marshall, Rohini Mathur, Gavin Giovannoni, Ruth Dobson
BACKGROUND: Multiple sclerosis is a leading cause of non-traumatic neurological disability among young adults worldwide. Prior studies have identified modifiable risk factors for multiple sclerosis in cohorts of White ethnicity, such as infectious mononucleosis, smoking, and obesity during adolescence/early adulthood. It is unknown whether modifiable exposures for multiple sclerosis have a consistent impact on risk across ethnic groups. AIM: To determine whether modifiable risk factors for multiple sclerosis have similar effects across diverse ethnic backgrounds...
September 7, 2023: Journal of Neurology
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