journal
https://read.qxmd.com/read/38634529/paraneoplastic-calmodulin-kinase-like-vesicle-associated-protein-camkv-autoimmune-encephalitis
#1
JOURNAL ARTICLE
Michael Gilligan, Connie E Lesnick, Yong Guo, Michael J Bradshaw, Shafeeq S Ladha, Mihaela Nowak, Maulik P Shah, John R Wittenborn, Eati Basal, Shannon Hinson, Binxia Yang, Divyanshu Dubey, John R Mills, Sean J Pittock, Anastasia Zekeridou, Andrew McKeon
OBJECTIVES: To report an autoimmune paraneoplastic encephalitis characterized by immunoglobulin G (IgG) antibody targeting synaptic protein calmodulin kinase-like vesicle-associated (CAMKV). METHODS: Serum and cerebrospinal fluid (CSF) samples harboring unclassified antibodies on murine brain-based indirect immunofluorescence assay (IFA) were screened by human protein microarray. In 5 patients with identical cerebral IFA staining, CAMKV was identified as top-ranking candidate antigen...
April 18, 2024: Annals of Neurology
https://read.qxmd.com/read/38624158/divergent-associations-of-slow-wave-sleep-versus-rapid-eye-movement-sleep-with-plasma-amyloid-beta
#2
JOURNAL ARTICLE
Yevgenia Rosenblum, Mariana Pereira, Oliver Stange, Frederik D Weber, Leonore Bovy, Sofia Tzioridou, Elisa Lancini, David A Neville, Nadja Klein, Timo de Wolff, Mandy Stritzke, Iris Kersten, Manfred Uhr, Jurgen A H R Claassen, Axel Steiger, Marcel M Verbeek, Martin Dresler
OBJECTIVE: Recent evidence shows that during slow-wave sleep (SWS), the brain is cleared from potentially toxic metabolites, such as the amyloid-beta protein. Poor sleep or elevated cortisol levels can worsen amyloid-beta clearance, potentially leading to the formation of amyloid plaques, a neuropathological hallmark of Alzheimer disease. Here, we explored how nocturnal neural and endocrine activity affects amyloid-beta fluctuations in the peripheral blood. METHODS: We acquired simultaneous polysomnography and all-night blood sampling in 60 healthy volunteers aged 20-68 years...
April 16, 2024: Annals of Neurology
https://read.qxmd.com/read/38624073/characterizing-frontal-lobe-seizure-semiology-in-children
#3
JOURNAL ARTICLE
Thijs van Dalen, Jessica F Kirkham, Aswin Chari, Felice D'Arco, Friederike Moeller, Christin Eltze, J Helen Cross, Martin M Tisdall, Rachel C Thornton
OBJECTIVE: The objective was to analyze seizure semiology in pediatric frontal lobe epilepsy patients, considering age, to localize the seizure onset zone for surgical resection in focal epilepsy. METHODS: Fifty patients were identified retrospectively, who achieved seizure freedom after frontal lobe resective surgery at Great Ormond Street Hospital. Video-electroencephalography recordings of preoperative ictal seizure semiology were analyzed, stratifying the data based on resection region (mesial or lateral frontal lobe) and age at surgery (≤4 vs >4)...
April 16, 2024: Annals of Neurology
https://read.qxmd.com/read/38613459/quantitative-foot-muscle-magnetic-resonance-imaging-reliably-measures-disease-progression-in-children-and-adolescents-with-charcot-marie-tooth-disease-type-1a
#4
JOURNAL ARTICLE
Carolynne M Doherty, Paige Howard, Luke F O'Donnell, Riccardo Zuccarino, Stephen Wastling, Evelin Milev, Tina Banks, Sachit Shah, Nick Zafeiropoulos, Katherine J Stephens, Anna Sarkozy, Tiffany Grider, Shawna M E Feely, Adnan Manzur, Rosemary R Shy, Mariola Skorupinska, Menelaos Pipis, Emma Nicolaisen, Amy McDowell, Nuran Dilek, Alexander M Rossor, Matilde Laura, Christopher Clark, Francesco Muntoni, Daniel Thedens, John Thornton, Jasper M Morrow, Michael E Shy, Mary M Reilly
Quantitative muscle fat fraction (FF) responsiveness is lower in younger Charcot-Marie-Tooth disease type 1A (CMT1A) patients with lower baseline calf-level FF. We investigated the practicality, validity, and responsiveness of foot-level FF in this cohort involving 22 CMT1A patients and 14 controls. The mean baseline foot-level FF was 25.9 ± 20.3% in CMT1A patients, and the 365-day FF (n = 15) increased by 2.0 ± 2.4% (p < 0.001 vs controls)...
April 13, 2024: Annals of Neurology
https://read.qxmd.com/read/38606939/current-state-of-evidence-for-neuroimaging-paradigms-in-management-of-acute-ischemic-stroke
#5
REVIEW
Amrou Sarraj, Deep K Pujara, Bruce Cv Campbell
Stroke is the chief differential diagnosis in patient presenting to the emergency room with abrupt onset focal neurological deficits. Neuroimaging, including non-contrast computed tomography (CT), magnetic resonance imaging (MRI), vascular and perfusion imaging, is a cornerstone in the diagnosis and treatment decision-making. This review examines the current state of evidence behind the different imaging paradigms for acute ischemic stroke diagnosis and treatment, including current recommendations from the guidelines...
April 12, 2024: Annals of Neurology
https://read.qxmd.com/read/38591875/diagnostic-utility-of-mog-antibody-testing-in-cerebrospinal-fluid
#6
JOURNAL ARTICLE
Vyanka Redenbaugh, James P Fryer, Laura Cacciaguerra, John J Chen, Tammy M Greenwood, Michael Gilligan, Smathorn Thakolwiboon, Masoud Majed, Nicholas H Chia, Andrew McKeon, John R Mills, A Sebastian Lopez Chiriboga, Jan-Mendelt Tillema, Binxia Yang, Yahya Abdulrahman, Kai Guo, Nisa Vorasoot, Cristina Valencia Sanchez, Deena A Tajfirouz, Michel Toledano, Anastasia Zekeridou, Divyanshu Dubey, Grace Y Gombolay, César Caparó-Zamalloa, Ilya Kister, Sean J Pittock, Eoin P Flanagan
OBJECTIVE: The aim of this study was to assess the diagnostic utility of cerebrospinal fluid (CSF) myelin oligodendrocyte glycoprotein antibodies (MOG-IgG) testing. METHODS: We retrospectively identified patients for CSF MOG-IgG testing from January 1, 1996, to May 1, 2023, at Mayo Clinic and other medical centers that sent CSF MOG-IgG for testing including: controls, 282; serum MOG-IgG positive MOG antibody-associated disease (MOGAD), 74; serum MOG-IgG negative high-risk phenotypes, 73; serum false positive MOG-IgG with alternative diagnoses, 18...
April 9, 2024: Annals of Neurology
https://read.qxmd.com/read/38578117/evaluating-the-effect-of-alzheimer-s-disease-related-biomarker-change-in-corticobasal-syndrome-and-progressive-supranuclear-palsy
#7
JOURNAL ARTICLE
Indira Garcia-Cordero, Chloe Anastassiadis, Abeer Khoja, Alonso Morales-Rivero, Simrika Thapa, Anna Vasilevskaya, Carly Davenport, Vishaal Sumra, Blas Couto, Namita Multani, Foad Taghdiri, Cassandra Anor, Karen Misquitta, Lawren Vandevrede, Hilary Heuer, David Tang-Wai, Bradford Dickerson, Alexander Pantelyat, Irene Litvan, Bradley Boeve, Julio C Rojas, Peter Ljubenkov, Edward Huey, Susan Fox, Gabor G Kovacs, Adam Boxer, Anthony Lang, M Carmela Tartaglia
OBJECTIVES: To evaluate the effect of Alzheimer's disease (AD) -related biomarker change on clinical features, brain atrophy and functional connectivity of patients with corticobasal syndrome (CBS) and progressive supranuclear palsy (PSP). METHODS: Data from patients with a clinical diagnosis of CBS, PSP, and AD and healthy controls were obtained from the 4-R-Tauopathy Neuroimaging Initiative 1 and 2, the Alzheimer's Disease Neuroimaging Initiative, and a local cohort from the Toronto Western Hospital...
April 5, 2024: Annals of Neurology
https://read.qxmd.com/read/38578115/blood-based-proteomics-for-adult-onset-focal-dystonias
#8
JOURNAL ARTICLE
Jigyasha Timsina, Ashok Dinasarapu, Gamze Kilic-Berkmen, John Budde, Yun Ju Sung, Adam M Klein, Carlos Cruchaga, H A Jinnah
OBJECTIVES: The adult-onset focal dystonias are characterized by over-active muscles leading to abnormal movements. For most cases, the etiology and pathogenesis remain unknown. In the current study, unbiased proteomics methods were used to identify potential changes in blood plasma proteins. METHODS: A large-scale unbiased proteomics screen was used to compare proteins (N = 6,345) in blood plasma of normal healthy controls (N = 49) with adult-onset focal dystonia (N = 143) consisting of specific subpopulations of cervical dystonia (N = 45), laryngeal dystonia (N = 49), and blepharospasm (N = 49)...
April 5, 2024: Annals of Neurology
https://read.qxmd.com/read/38568072/bilateral-hearing-loss-caused-by-inferior-collicular-infarction
#9
JOURNAL ARTICLE
Lingjia Xu, Yang Zhou, Feng Zhou, Guoping Fu
No abstract text is available yet for this article.
April 3, 2024: Annals of Neurology
https://read.qxmd.com/read/38568048/sex-differences-in-amyotrophic-lateral-sclerosis-survival-and-progression-a-multidimensional-analysis
#10
JOURNAL ARTICLE
Maurizio Grassano, Cristina Moglia, Francesca Palumbo, Emanuele Koumantakis, Paolo Cugnasco, Stefano Callegaro, Antonio Canosa, Umberto Manera, Rosario Vasta, Filippo De Mattei, Enrico Matteoni, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Fabiola De Marchi, Letizia Mazzini, Gabriele Mora, Andrea Calvo, Adriano Chiò
OBJECTIVE: To investigate sex-related differences in amyotrophic lateral sclerosis (ALS) prognosis and their contributing factors. METHODS: Our primary cohort was the Piemonte and Aosta Register for ALS (PARALS); the Pooled Resource Open-Access ALS Clinical Trials (PRO-ACT) and the Answer ALS databases were used for validation. Survival analyses were conducted accounting for age and onset site. The roles of forced vital capacity and weight decline were explored through a causal mediation analysis...
April 3, 2024: Annals of Neurology
https://read.qxmd.com/read/38568044/high-frequency-of-cognitive-and-behavioral-impairment-in-amyotrophic-lateral-sclerosis-patients-with-sod1-pathogenic-variants
#11
JOURNAL ARTICLE
Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Maurizio Grassano, Margherita Daviddi, Filippo De Mattei, Enrico Matteoni, Salvatore Gallone, Maura Brunetti, Luca Sbaiz, Sara Cabras, Laura Peotta, Francesca Palumbo, Barbara Iazzolino, Gabriele Mora, Adriano Chiò
OBJECTIVE: While the cognitive-behavioral characteristics of amyotrophic lateral sclerosis (ALS) patients carrying C9orf72 pathological repeat expansion have been extensively studied, our understanding of those carrying SOD1 variants is mostly based on case reports. The aim of this paper is to extensively explore the cognitive-behavioral characteristics of a cohort of ALS patients carrying pathogenetic variants of SOD1 gene, comparing them to patients without pathogenetic variants of 46 ALS-related genes (wild-type [WT]-ALS) and healthy controls...
April 3, 2024: Annals of Neurology
https://read.qxmd.com/read/38568026/determinants-and-biomarkers-of-progression-independent-of-relapses-in-multiple-sclerosis
#12
REVIEW
Massimiliano Calabrese, Paolo Preziosa, Antonio Scalfari, Elisa Colato, Damiano Marastoni, Martina Absinta, Marco Battaglini, Nicola De Stefano, Massimiliano Di Filippo, Simon Hametner, Owain W Howell, Matilde Inglese, Hans Lassmann, Roland Martin, Richard Nicholas, Richard Reynolds, Maria A Rocca, Agnese Tamanti, Marco Vercellino, Luisa Maria Villar, Massimo Filippi, Roberta Magliozzi
Clinical, pathological, and imaging evidence in multiple sclerosis (MS) suggests that a smoldering inflammatory activity is present from the earliest stages of the disease and underlies the progression of disability, which proceeds relentlessly and independently of clinical and radiological relapses (PIRA). The complex system of pathological events driving "chronic" worsening is likely linked with the early accumulation of compartmentalized inflammation within the central nervous system as well as insufficient repair phenomena and mitochondrial failure...
April 3, 2024: Annals of Neurology
https://read.qxmd.com/read/38563317/alterations-in-blood-methylome-as-potential-epigenetic-biomarker-in-sporadic-parkinson-s-disease
#13
JOURNAL ARTICLE
Paulina Gonzalez-Latapi, Bernabe Bustos, Siyuan Dong, Steven Lubbe, Tanya Simuni, Dimitri Krainc
OBJECTIVE: To characterize DNA methylation (DNAm) differences between sporadic Parkinson's disease (PD) and healthy control (HC) individuals enrolled in the Parkinson's Progression Markers Initiative (PPMI). METHODS: Using whole blood, we characterized longitudinal differences in DNAm between sporadic PD patients (n = 196) and HCs (n = 86) enrolled in PPMI. RNA sequencing (RNAseq) was used to conduct gene expression analyses for genes mapped to differentially methylated cytosine-guanine sites (CpGs)...
April 2, 2024: Annals of Neurology
https://read.qxmd.com/read/38558306/compensated-hypogonadism-identified-in-males-with-cluster-headache-a-prospective-case-controlled-study
#14
JOURNAL ARTICLE
Anja S Petersen, David M Kristensen, Connar S J Westgate, Thomas Folkmann-Hansen, Nunu Lund, Mads Barloese, Marie-Louise K Søborg, Agneta Snoer, Trine H Johannsen, Hanne Frederiksen, Anders Juul, Rigmor H Jensen
OBJECTIVE: Androgens have been hypothesized to be involved in the pathophysiology of cluster headache due to the male predominance, but whether androgens are altered in patients with cluster headache remains unclear. METHODS: We performed a prospective, case-controlled study in adult males with cluster headache. Sera were measured for hormones including testosterone, luteinizing hormone (LH), and sex hormone-binding globulin in 60 participants with episodic cluster headache (during a bout and in remission), 60 participants with chronic cluster headache, and 60 age- and sex-matched healthy controls...
April 1, 2024: Annals of Neurology
https://read.qxmd.com/read/38558217/reply-to-an-apple-a-day-will-not-keep-the-parkinson-s-disease-doctor-at-bay
#15
LETTER
Erik Post, Deborah A Hall, Bastiaan R Bloem
No abstract text is available yet for this article.
April 1, 2024: Annals of Neurology
https://read.qxmd.com/read/38557965/towards-a-global-view-of-parkinson-s-disease-genetics
#16
REVIEW
Marzieh Khani, Catalina Cerquera-Cleves, Mariam Kekenadze, Peter Wild Crea, Andrew B Singleton, Sara Bandres-Ciga
Parkinson's disease (PD) is a global health challenge, yet historically studies of PD have taken place predominantly in European populations. Recent genetics research conducted in non-European populations has revealed novel population-specific genetic loci linked to PD risk, highlighting the importance of studying PD globally. These insights have broadened our understanding of PD etiology, which is crucial for developing disease-modifying interventions. This review comprehensively explores the global genetic landscape of PD, emphasizing the scientific rationale for studying underrepresented populations...
April 1, 2024: Annals of Neurology
https://read.qxmd.com/read/38553985/an-apple-a-day-will-not-keep-the-parkinson-disease-doctor-at-bay
#17
LETTER
Alexandra Boogers, Alfonso Fasano, Anthony Lang
No abstract text is available yet for this article.
March 30, 2024: Annals of Neurology
https://read.qxmd.com/read/38551149/hla-associations-of-intrathecal-igg-production-against-specific-viruses-in-multiple-sclerosis
#18
JOURNAL ARTICLE
Stephan Neidhart, Benjamin Vlad, Marc Hilty, Klara Asplund Högelin, Mario Ziegler, Ernesto Berenjeno-Correa, Ina Reichen, Pernilla Stridh, Ivan Jelcic, Mohsen Khademi, Ingrid Kockum, Mireia Sospedra, Faiez Al Nimer, Roland Martin, Ilijas Jelcic
OBJECTIVE: Specific human leucocyte antigen (HLA) alleles are not only associated with higher risk to develop multiple sclerosis (MS) and other autoimmune diseases, but also with the severity of various viral and bacterial infections. Here, we analyzed the most specific biomarker for MS, that is, the polyspecific intrathecal IgG antibody production against measles, rubella, and varicella zoster virus (MRZ reaction), for possible HLA associations in MS. METHODS: We assessed MRZ reaction from 184 Swiss patients with MS and clinically isolated syndrome (CIS) and 89 Swiss non-MS/non-CIS control patients, and performed HLA sequence-based typing, to check for associations of positive MRZ reaction with the most prevalent HLA alleles...
March 29, 2024: Annals of Neurology
https://read.qxmd.com/read/38546204/%C3%AE-synuclein-pathology-in-prkn-linked-parkinson-s-disease-new-insights-from-a-blood-based-seed-amplification-assay
#19
JOURNAL ARTICLE
Annika Kluge, Max Borsche, Linn Streubel-Gallasch, Tuğçe Gül, Susen Schaake, Alexander Balck, Jannik Prasuhn, Philip Campbell, Huw R Morris, Anthony H Schapira, Katja Lohmann, Norbert Brüggemann, Aleksandar Rakovic, Philip Seibler, A Nazlı Başak, Daniela Berg, Christine Klein
Pathogenic variants in PRKN cause early-onset Parkinson's disease (PD), while the role of alpha-synuclein in PRKN-PD remains uncertain. One study performed a blood-based alpha-synuclein seed amplification assay (SAA) in PRKN-PD, not detecting seed amplification in 17 PRKN-PD patients. By applying a methodologically different SAA focusing on neuron-derived extracellular vesicles, we demonstrated alpha-synuclein seed amplification in 8 of 13 PRKN-PD patients, challenging the view of PRKN-PD as a non-synucleinopathy...
March 28, 2024: Annals of Neurology
https://read.qxmd.com/read/38546184/retraction-5-lipoxygenase-gene-transfer-worsens-memory-amyloid-and-tau-brain-pathologies-in-a-mouse-model-of-alzheimer-disease
#20
(no author information available yet)
Retraction: Jin Chu, Phillip F. Giannopoulos, Carolina Ceballos-Diaz, Todd E. Golde, Domenico Pratico (2012), 5-Lipoxygenase gene transfer worsens memory, amyloid, and tau brain pathologies in a mouse model of alzheimer disease. Ann Neurol., 72: 442-454. https://doi.org/10.1002/ana.23642 The above article, published online on 09 May 2012 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the authors, the journal Editor-in-Chief, Kenneth L. Tyler, American Neurological Association and Wiley Periodicals LLC...
March 28, 2024: Annals of Neurology
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