journal
https://read.qxmd.com/read/33836104/approaches-to-understanding-covid-19-and-its-neurological-associations
#1
Ettore Beghi, Benedict D Michael, Tom Solomon, Erica Westenberg, Andrea S Winkler
There is an accumulating volume of research into neurological manifestations of COVID-19. However, inconsistent study designs, inadequate controls, poorly-validated tests, and differing settings, interventions, and cultural norms weaken study quality, comparability, and thus the understanding of the spectrum, burden and pathophysiology of these complications. Therefore, a global COVID-19 Neuro Research Coalition, together with the WHO, has reviewed reports of COVID-19 neurological complications and harmonised clinical measures for future research...
April 9, 2021: Annals of Neurology
https://read.qxmd.com/read/33834539/detection-of-brain-somatic-mutations-in-csf-from-refractory-epilepsy-patients
#2
Seyeon Kim, Sara Baldassari, Nam Suk Sim, Mathilde Chipaux, Georg Dorfmüller, Dong Seok Kim, Won Seok Chang, Valérie Taly, Jeong Ho Lee, Stéphanie Baulac
Brain mosaic mutations are a major cause of refractory focal epilepsies with cortical malformations such as focal cortical dysplasia, hemimegalencephaly, malformation of cortical development with oligodendroglial hyperplasia in epilepsy, or ganglioglioma. Here, we collected 1-6 mL of cerebrospinal fluid (CSF) during epilepsy surgery to search for somatic variants in cell-free DNA (cfDNA) using targeted droplet digital PCR. In 3/12 epileptic patients with known somatic mutations previously identified in brain tissue, we here provide evidence that brain mosaicism can be detected in the CSF-derived cfDNA...
April 8, 2021: Annals of Neurology
https://read.qxmd.com/read/33811370/unravelling-the-neural-basis-of-spatial-delusions-after-stroke
#3
Pedro N Alves, Ana C Fonseca, Daniela P Silva, Matilde R Andrade, Teresa Pinho-E-Melo, Michel Thiebaut de Schotten, Isabel P Martins
OBJECTIVE: Knowing explicitly where we are is an interpretation of our spatial representations. Reduplicative paramnesia is a disrupting syndrome in which patients present a firm belief of spatial mislocation. Here, we studied the largest sample of patients with delusional misidentifications of space (i.e. reduplicative paramnesia) after stroke to shed light on their neurobiology. METHODS: In a prospective, cumulative, case-control study, we screened 400 patients with acute right-hemispheric stroke...
April 2, 2021: Annals of Neurology
https://read.qxmd.com/read/33792074/rapidly-progressing-honeycomb-like-germinoma-in-the-ventricular-system
#4
Qichao Qi, Xingang Li, Shilei Ni
No abstract text is available yet for this article.
April 1, 2021: Annals of Neurology
https://read.qxmd.com/read/33783847/characterization-of-the-insular-role-in-cardiac-function-through-intracranial-electrical-stimulation-of-the-human-insula
#5
Alvaro Sanchez-Larsen, Alessandro Principe, Miguel Ley, Javier Navarro-Cuartero, Rodrigo Rocamora
OBJECTIVE: The link between brain function and cardiovascular dynamics is an important issue yet to be completely elucidated. The insula is a neocortical brain area that is thought to have a cardiac chronotropic regulatory function, but its role in cardiac contractility is unknown. We aim to analyze the heart rate and cardiac contractility variability after functional activation of different insular regions through direct electrical stimulation (E-stim) in humans. METHODS: Observational, prospective study, including patients admitted for stereo-electroencephalographic recording because of refractory epilepsy in whom the insular cortex was implanted...
March 30, 2021: Annals of Neurology
https://read.qxmd.com/read/33772845/amylin-analog-pramlintide-induces-migraine-like-attacks-in-patients
#6
Hashmat Ghanizada, Mohammad Al-Mahdi Al-Karagholi, Christopher S Walker, Nanna Arngrim, Tayla Rees, Jakeb Petersen, Andrew Siow, Mette Mørch-Rasmussen, Sheryl Tan, Simon J O'Carroll, Paul Harris, Lene Theil Skovgaard, Niklas Rye Jørgensen, Margaret Brimble, Jayme S Waite, Brandon J Rea, Levi P Sowers, Andrew F Russo, Debbie L Hay, Messoud Ashina
OBJECTIVE: Migraine is a prevalent and disabling neurological disease. Its genesis is poorly understood and there remains unmet clinical need. We aimed to identify mechanisms and thus novel therapeutic targets for migraine using human models of migraine and translational models in animals, with emphasis on amylin, a close relative of calcitonin gene-related peptide (CGRP). METHODS: Thirty-six migraine without aura patients were enrolled in a randomized, double-blinded, two-way, cross-over, positive-controlled clinical trial study to receive infusion of an amylin analogue pramlintide or human αCGRP on two different experimental days...
March 27, 2021: Annals of Neurology
https://read.qxmd.com/read/33772866/nia-aa-alzheimer-s-disease-framework-clinical-characterization-of-stages
#7
Ronald C Petersen, Heather J Wiste, Stephen D Weigand, Julie A Fields, Yonas E Geda, Jonathan Graff-Radford, David S Knopman, Walter K Kremers, Val Lowe, Mary Machulda, Michelle Mielke, Nikki H Stricker, Terry M Therneau, Prashanthi Vemuri, Clifford R Jack
BACKGROUND: To operationalize the National Institute on Aging-Alzheimer's Association Research Framework for Alzheimer's Disease six-stage continuum of clinical progression for persons with abnormal amyloid. METHODS: The Mayo Clinic Study of Aging is a population-based longitudinal study of aging and cognitive impairment in Olmsted County, Minnesota. We evaluated persons without dementia having three consecutive clinical visits. Measures for cross-sectional categories included objective cognitive impairment (OBJ) and function (FXN)...
March 26, 2021: Annals of Neurology
https://read.qxmd.com/read/33772855/foslevodopa-foscarbidopa-a-new-subcutaneous-treatment-for-parkinson-s-disease
#8
Matthew Rosebraugh, Eric A Voight, Ehab M Moussa, Feroz Jameel, Xiaochun Lou, Geoff G Z Zhang, Peter T Mayer, Deanne Stolarik, Robert A Carr, Brian P Enright, Wei Liu, Maurizio F Facheris, Philip R Kym
OBJECTIVE: To demonstrate that continuous subcutaneous infusion of a soluble levodopa (LD)/carbidopa (CD) phosphate prodrug combination effectively delivers stable LD exposure via a minimally invasive and convenient mode and has the potential to treat Parkinson's disease (PD) patients who are not well controlled on oral medication. METHODS: Foslevodopa/foscarbidopa are prepared and equilibrium solubility and chemical stability are examined in aqueous media of different pHs...
March 26, 2021: Annals of Neurology
https://read.qxmd.com/read/33749851/meningeal-cgrp-prolactin-interaction-evokes-female-specific-migraine-behavior
#9
Amanda Avona, Bianca N Mason, Carolina Burgos-Vega, Anahit H Hovhannisyan, Sergei N Belugin, Jennifer Mecklenburg, Vincent Goffin, Naureen Wajahat, Theodore J Price, Armen N Akopian, Gregory Dussor
OBJECTIVE: Migraine is three times more common in women. CGRP plays a critical role in migraine pathology and causes female-specific behavioral responses upon meningeal application. These effects are likely mediated through interactions of CGRP with signaling systems specific to females. Prolactin (PRL) levels have been correlated with migraine attacks. Here, we explore a potential interaction between CGRP and PRL in the meninges. METHODS: Prolactin, CGRP, and receptor antagonists CGRP8-37 or Δ1-9-G129R-hPRL were administered onto the dura of rodents followed by behavioral testing...
March 22, 2021: Annals of Neurology
https://read.qxmd.com/read/33745195/how-can-a-na-channel-inhibitor-ameliorate-seizures-in-lennox-gastaut-syndrome
#10
Yun-Chu Lin, Yi-Chen Lai, Ping Chou, Shu-Wei Hsueh, Tien-Hung Lin, Chen-Syuan Huang, Ren-Wei Wang, Ya-Chin Yang, Chung-Chin Kuo
OBJECTIVE: Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy frequently associated with multiple types of seizures. The classical Na+ channel inhibitors are in general ineffective against the seizures in LGS. Rufinamide is a new Na+ channel inhibitor, but approved for the treatment of LGS. This is not consistent with a choice of antiseizure drugs (ASD) according to simplistic categorical grouping. METHODS: The effect of rufinamide on the Na+ channel, cellular discharges, and seizure behaviors were quantitatively characterized in native neurons and mammalian models of epilepsy, and compared with the other Na+ channel inhibitors...
March 21, 2021: Annals of Neurology
https://read.qxmd.com/read/33745139/staufen1-in-human-neurodegeneration
#11
Sharan Paul, Warunee Dansithong, Karla P Figueroa, Mandi Gandelman, Daniel R Scoles, Stefan M Pulst
OBJECTIVE: Mutant expansions of DNA CAG ≥32 repeats in ATXN2 can be a rare cause of Parkinson disease and Amyotrophic lateral sclerosis (ALS). We recently reported that the stress granule (SG) protein Staufen1 (STAU1) was overabundant in neurodegenerative disorder SCA2 patient cells, animal models, and ALS-TDP-43 fibroblasts and provided a link between SG formation and autophagy. We aimed to test if STAU1 overabundance has role in the pathogenesis of other neurodegenerative diseases...
March 21, 2021: Annals of Neurology
https://read.qxmd.com/read/33724534/serum-glial-fibrillary-acidic-protein-a-neuromyelitis-optica-spectrum-disorder-biomarker
#12
Orhan Aktas, Michael A Smith, William A Rees, Jeffrey L Bennett, Dewei She, Eliezer Katz, Bruce A C Cree
OBJECTIVE: Blood tests to monitor disease activity, attack severity, or treatment impact in neuromyelitis optica spectrum disorder (NMOSD) have not been developed. This study investigated the relationship between serum glial fibrillary acidic protein (sGFAP) concentration and NMOSD activity and assessed the impact of inebilizumab treatment. METHODS: N-MOmentum was a prospective, multicenter, double-blind, placebo-controlled, randomized clinical trial, in adults with NMOSD...
March 16, 2021: Annals of Neurology
https://read.qxmd.com/read/33710676/noninvasive-mapping-of-ripple-onset-predicts-outcome-in-epilepsy-surgery
#13
Eleonora Tamilia, Margherita A G Matarrese, Georgios Ntolkeras, P Ellen Grant, Joseph R Madsen, Steve M Stufflebeam, Phillip L Pearl, Christos Papadelis
OBJECTIVE: Intracranial EEG (icEEG) studies show that interictal ripples propagate across the brain of children with medically refractory epilepsy (MRE) and the onset of this propagation (ripple-onset-zone, ROZ) estimates the epileptogenic zone. It is still unknown whether we can map this propagation non-invasively. The goal of this study is to map ripples (ripple-zone, RZ) and their propagation onset (ROZ) using high-density EEG (HD-EEG) and magnetoencephalography (MEG), and to estimate their prognostic value in pediatric epilepsy surgery...
March 12, 2021: Annals of Neurology
https://read.qxmd.com/read/33710649/ana-investigates-neurological-complications-of-covid-19-vaccines
#14
Adeline L Goss, Rohini D Samudralwar, Rohit R Das, Avindra Nath
No abstract text is available yet for this article.
March 12, 2021: Annals of Neurology
https://read.qxmd.com/read/33704826/eeg-abnormalities-are-common-in-covid-19-and-are-associated-with-outcomes
#15
Lu Lin, Abrar Al-Faraj, Neishay Ayub, Pablo Bravo, Sudeshna Das, Lorenzo Ferlini, Ioannis Karakis, Jong Woo Lee, Shibani S Mukerji, Christopher R Newey, Jay Pathmanathan, Myriam Abdennadher, Charles Cassasa, Nicolas Gaspard, Daniel M Goldenholz, Emily J Gilmore, Jing Jin, Jennifer A Kim, Eyal Y Kimchi, Harshad S Ladha, Steven Tobochnik, Sahar Zafar, Lawrence J Hirsch, M Brandon Westover, Mouhsin M Shafi
OBJECTIVE: To determine the prevalence and risk factors for electrographic seizures and other EEG patterns in patients with COVID-19 undergoing clinically indicated continuous electroencephalogram monitoring (cEEG), and to assess whether EEG findings are associated with outcomes. METHODS: We identified 197 patients with COVID-19 referred for cEEG at 9 participating centers. Medical records and EEG reports were reviewed retrospectively to determine the incidence of and clinical risk factors for seizures and other epileptiform patterns...
March 11, 2021: Annals of Neurology
https://read.qxmd.com/read/33704825/mitochondrial-dna-analysis-from-exome-sequencing-data-improves-the-diagnostic-yield-in-neurological-diseases
#16
Olivia V Poole, Chiara Pizzamiglio, David Murphy, Micol Falabella, William L Macken, Enrico Bugiardini, Cathy E Woodward, Robyn Labrum, Stephanie Efthymiou, Vincenzo Salpietro, Viorica Chelban, Rauan Kaiyrzhanov, Reza Maroofian, Anthony A Amato, Allison Gregory, Susan J Hayflick, Queen Square Genomics, Hallgeir Jonvik, Nicholas Wood, Henry Houlden, Jana Vandrovcova, Michael G Hanna, Alan Pittman, Robert D S Pitceathly
A rapidly expanding catalogue of neurogenetic disorders has encouraged a diagnostic shift towards early clinical whole exome sequencing (WES). Adult primary mitochondrial diseases (PMDs) frequently exhibit neurological manifestations that overlap with other nervous system disorders. However, mitochondrial DNA (mtDNA) is not routinely analyzed in standard clinical WES bioinformatic pipelines. We reanalyzed 11,424 exomes, enriched with neurological diseases, for pathogenic mtDNA variants. Twenty-four different mtDNA mutations were detected in 64 exomes, 11 of which were considered disease causing based on the associated clinical phenotypes...
March 11, 2021: Annals of Neurology
https://read.qxmd.com/read/33704824/genetic-variation-in-wnt9b-increases-relapse-hazard-in-multiple-sclerosis
#17
Marijne Vandebergh, Till F M Andlauer, Yuan Zhou, Klara Mallants, Friederike Held, Lilian Aly, Bruce V Taylor, Bernhard Hemmer, Bénédicte Dubois, An Goris
OBJECTIVE: Many multiple sclerosis (MS) genetic susceptibility variants have been identified, but understanding disease heterogeneity remains a key challenge. Relapses are a core feature of MS and a common primary outcome of clinical trials, with prevention of relapses benefiting patients immediately and potentially limiting long-term disability accrual. We aim to identify genetic variation associated with relapse hazard in MS by analyzing the largest study population to date. METHODS: We performed a genome-wide association study (GWAS) in a discovery cohort and investigated the genome-wide significant variants in a replication cohort...
March 11, 2021: Annals of Neurology
https://read.qxmd.com/read/33704823/frailty-and-risk-of-dementia-in-mild-cognitive-impairment-subtypes
#18
David D Ward, Lindsay M K Wallace, Kenneth Rockwood
Risk factors for developing dementia from mild cognitive impairment (MCI) likely differ between MCI subtypes. We investigated how frailty relates to dementia risk in amnestic MCI (a-MCI; N = 2799) and non-amnestic MCI (na-MCI; N = 629) in the National Alzheimer's Coordinating Center database. Even though higher frailty increased dementia risk for people with either a-MCI or na-MCI, the larger risk was in na-MCI (interaction HR = 1.35 [95% confidence interval = 1.15-1.59], P < .001). Even after the onset of clinically significant cognitive impairment, poor general health, quantified by a high degree of frailty, is a significant risk for dementia...
March 11, 2021: Annals of Neurology
https://read.qxmd.com/read/33704815/ms-is-rare-in-ebv-seronegative-children-with-cns-inflammatory-demyelination
#19
Bardia Nourbakhsh, Christian Cordano, Carlo Asteggiano, Klemens Ruprecht, Carolin Otto, Alice Rutatangwa, Allysa Lui, Janace Hart, Eoin P Flanagan, Judith A James, Emmanuelle Waubant
Although Epstein-Barr virus (EBV) is hypothesized to be a prerequisite for multiple sclerosis (MS), up to 15% of children with a diagnosis of MS were reported to be EBV-seronegative. When re-evaluating 25 EBV-seronegative children out of 189 pediatric patients with a diagnosis of clinically isolated syndrome/MS, we found anti-myelin oligodendrocyte glycoprotein (MOG) antibody in 11/25 (44%) EBV-seronegative, but only 9/164 (5.5%, p < 0.001) EBV-seropositive patients. After critical review, MS remained a plausible diagnosis in only four of 14 EBV-seronegative/MOG antibody-negative patients...
March 11, 2021: Annals of Neurology
https://read.qxmd.com/read/33675084/selective-endothelial-hyperactivation-of-oncogenic-kras-induces-brain-arteriovenous-malformations-in-mice
#20
Eun S Park, Sehee Kim, Shuning Huang, Ji Young Yoo, Jakob Körbelin, Tae Jin Lee, Balveen Kaur, Pramod K Dash, Peng Roc Chen, Eunhee Kim
OBJECTIVE: Brain arteriovenous malformations (bAVMs) are a leading cause of hemorrhagic stroke and neurological deficits in children and young adults, however no pharmacological intervention is available to treat these patients. Although more than 95% of bAVMs are sporadic without family history, the pathogenesis of sporadic bAVMs is largely unknown, which may account for the lack of therapeutic options. KRAS mutations are frequently observed in cancer, and a recent unprecedented finding of these mutations in sporadic human bAVMs offers a new direction in the research...
March 5, 2021: Annals of Neurology
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