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Annals of Neurology

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https://www.readbyqxmd.com/read/29220873/effect-of-sleep-on-overnight-csf-amyloid-%C3%AE-kinetics
#1
Brendan P Lucey, Terry J Hicks, Jennifer S McLeland, Cristina D Toedebusch, Jill Boyd, Donald L Elbert, Bruce W Patterson, Jack Baty, John C Morris, Vitaliy Ovod, Kwasi G Mawuenyega, Randall J Bateman
Sleep disturbances are associated with future risk of Alzheimer's disease. Disrupted sleep increases soluble amyloid-β, suggesting a mechanism for sleep disturbances to increase Alzheimer's disease risk. We tested this response in humans using indwelling lumbar catheters to serially sample cerebrospinal fluid while participants were sleep-deprived, treated with sodium oxybate, or allowed to sleep normally. All participants were infused with 13 C6 -leucine to measure amyloid-β kinetics. We found that sleep deprivation increased overnight amyloid-β-38, amyloid-β-40, and amyloid-β-42 levels by 25-30% via increased overnight amyloid-β production relative to sleeping controls...
December 8, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29205475/single-unit-activities-during-the-transition-to-seizures-in-deep-mesial-structures
#2
Virginie Lambrecq, Katia Lehongre, Claude Adam, Valério Frazzini, Bertrand Mathon, Stéphane Clemenceau, Dominique Hasboun, Stéphane Charpier, Michel Baulac, Vincent Navarro, Michel Le Van Quyen
Focal seizures are assumed to arise from a hypersynchronous activity affecting a circumscribed brain region. Using microelectrodes in seizure-generating deep mesial regions of 9 patients, we investigated the firing of hundreds of single-neurons before, during and after ictal EEG discharges. Neuronal spiking activity at seizure initiation was highly heterogeneous and not hypersynchronous. Furthermore, groups of neurons showed significant changes in activity minutes before the seizure with no concomitant changes in the corresponding macroscopic EEG recordings...
December 5, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29205466/ischemic-core-thresholds-change-with-time-to-reperfusion-a-case-control-study
#3
Andrew Bivard, Tim Kleinig, Ferdinand Miteff, Kenneth Butcher, Longting Lin, Christopher Levi, Mark Parsons
INTRODUCTION: We aimed to identify if acute ischemic stroke patients with known complete reperfusion after thrombectomy had the same baseline CTP ischemic core threshold to predict infarction as thrombolysis patients with complete reperfusion. METHODS: Patients who underwent thrombectomy were matched by age, clinical severity, occlusion location, and baseline perfusion lesion volume to patients who were treated with intravenous alteplase alone from the International Stroke Perfusion Imaging Registry...
December 4, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#4
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29171923/clinical-and-genetic-findings-in-children-with-cns-arteriovenous-fistulas
#5
Guillaume Saliou, Mélanie Eyries, Marta Iacobucci, Jean François Knebel, Marie-Christine Waill, Florence Coulet, Augustin Ozanne, Florent Soubrier
OBJECTIVE: To assess the spectrum of genetic anomalies in a cohort of children presenting at least one cerebral or spinal pial arteriovenous fistula (AVF), and to describe their clinical characteristics. METHODS: From 1988 to 2016, all consecutive patients with at least one cerebral or spinal pial AVF were screened for genetic disease. All patients under the age of 18 years were included. Symptoms associated with AVF were recorded: heart failure, neurologic deficit/seizure, hemorrhage...
November 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29171917/increasing-motor-neuron-excitability-to-treat-weakness-in-sepsis
#6
Paul Nardelli, Randall Powers, Tim C Cope, Mark M Rich
OBJECTIVE: Weakness induced by critical illness (intensive care unit acquired weakness) is a major cause of disability in patients and is currently untreatable. We recently identified a defect in repetitive firing of lower motor neurons as a novel contributor to intensive care unit acquired weakness. In order to develop therapy for intensive care unit acquired weakness, it was necessary to determine the mechanism underlying the defect in repetitive firing. METHODS: Both computer simulation and in vivo dynamic voltage clamp of spinal motor neurons in septic rats were employed to explore potential mechanisms underlying defective repetitive firing...
November 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29171915/targeting-hypersensitive-corticostriatal-terminals-in-restless-legs-syndrome
#7
Gabriel Yepes, Xavier Guitart, William Rea, Amy H Newman, Richard P Allen, Christopher J Earley, César Quiroz, Sergi Ferré
OBJECTIVE: The first aim was to demonstrate a previously hypothesized increased sensitivity of corticostriatal glutamatergic terminals in the rodent with brain iron deficiency (BID), a pathogenetic model of Restless Legs Syndrome (RLS). The second aim was to determine if these putative hypersensitive terminals could constitute a significant target for drugs effective in RLS, including dopamine agonists (pramipexole and ropinirole) and α2 δ ligands (gabapentin). METHODS: A recently introduced in vivo optogenetic-microdialysis approach was used, which allows the measurement of the extracellular concentration of glutamate upon local light-induced stimulation of corticostriatal glutamatergic terminals...
November 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29171910/mutant-huntingtin-protein-expression-and-blood-spinal-cord-barrier-dysfunction-in-huntington-s-disease
#8
Giacomo Sciacca, Francesca Cicchetti
OBJECTIVE: The aim of the study was to assess the distribution, frequency and specific location of mutant huntingtin protein (mHTT) aggregates - the pathological hallmark of HD - within the various compartments of the spinal cord and their potential impact on the local vasculature and BSCB. METHODS: We performed a series of post-mortem immunohistochemical and immunofluorescent stainings, as well as western blot analyses, on cervical and lumbar sections of the spinal cord in patients diagnosed with HD (n=11 of all grades of disease severity) along with sex and age-matched healthy controls (n=9)...
November 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29171907/building-on-neuronext-next-generation-clinics-to-cure-chronic-neurological-disability
#9
LETTER
Rajiv R Ratan
Chronic disability from neurological conditions is a looming, if not present, epidemic. The combination of an increasingly aged population, and our improved ability to keep patients alive after acute neurological injury, means that the ranks of the chronically disabled are swelling. Indeed, it is estimated that by 2050, the leading causes of motor and cognitive disability in the United States- stroke and Alzheimer's disease-, will cost the country $1.4 trillion per year1-3 . If these daunting numbers do not provoke action to accelerate progress on their own, the human suffering wrought by these conditions should...
November 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29165839/striatal-dopamine-in-parkinson-s-disease-a-meta-analysis-of-imaging-studies
#10
REVIEW
Valtteri Kaasinen, Tero Vahlberg
A meta-analysis of 141 PET and SPECT studies that have investigated striatal presynaptic dopamine function in Parkinson's disease (PD) was performed. Subregional estimates of striatal dopamine metabolism are presented. The aromatic L-amino-acid decarboxylase (AADC) defect appears to be consistently smaller than the dopamine transporter (DAT) and vesicular monoamine transporter 2 (VMAT2) defects, suggesting up-regulation of AADC function in PD. The correlation between disease severity and dopamine loss appears linear but the majority of longitudinal studies point to a negative exponential progression pattern of dopamine loss in PD...
November 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29156496/sensation-mechanoreceptor-and-nerve-fiber-function-after-nerve-regeneration
#11
Christian Krarup, Birgitta Rosén, Michel Boeckstyns, Allan Ibsen Sørensen, Göran Lundborg, Mihai Moldovan, Simon J Archibald
OBJECTIVE: Sensation is essential for recovery after peripheral nerve injury. However, the relationship between sensory modalities and function of regenerated fibers is uncertain. We have investigated the relationships between touch threshold, tactile gnosis and mechanoreceptor and sensory fiber function after nerve regeneration. METHODS: Twenty-one median or ulnar nerve lesions were repaired by a collagen nerve conduit or direct suture. Quantitative sensory hand function and sensory conduction studies by near-nerve technique including tactile stimulation of mechanoreceptors were followed for 2 years, and results were compared to non-injured hands...
November 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#12
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149769/neuronext-is-at-your-service
#13
Seward B Rutkove, Basil T Darras
No abstract text is available yet for this article.
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149768/mitochondrial-dna-changes-in-pedunculopontine-cholinergic-neurons-in-parkinson-s
#14
Alexander G Bury, Angela Pyle, Joanna L Elson, Laura Greaves, Christopher M Morris, Gavin Hudson, Ilse S Pienaar
In Parkinson's disease (PD), mitochondrial dysfunction associates with nigral dopaminergic neuronal loss. Cholinergic neuronal loss co-occurs, particularly within a brainstem structure, the pedunculopontine nucleus (PPN). We isolated single cholinergic neurons from post-mortem PPNs of aged controls and PD patients. Mitochondrial DNA (mtDNA) copy number and mtDNA deletions were increased significantly in PD patients compared to controls. Furthermore, compared to controls the PD patients had significantly more PPN cholinergic neurons containing mtDNA deletion levels exceeding 60%, a level associated with deleterious effects on oxidative phosphorylation...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29136297/is-there-even-such-a-thing-as-idiopathic-normal-pressure-hydrocephalus
#15
LETTER
Alberto J Espay, Anthony E Lang
No abstract text is available yet for this article.
November 14, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29136294/reply-to-is-there-even-such-a-thing-as-idiopathic-normal-pressure-hydrocephalus
#16
LETTER
Clifford B Saper
No abstract text is available yet for this article.
November 14, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29130551/a-localized-pallidal-physiomarker-in-cervical-dystonia
#17
Wolf-Julian Neumann, Andreas Horn, Siobhan Ewert, Julius Huebl, Christof Brücke, Colleen Slentz, Gerd-Helge Schneider, Andrea A Kühn
OBJECTIVE: Deep brain stimulation (DBS) allows for direct recordings of neuronal activity from the human basal ganglia. In Parkinson's disease, a disease-specific physiomarker was identified that is now used to investigate adaptive closed-loop stimulation in first studies. In dystonia such a physiomarker is missing. METHODS: Pallidal oscillations were recorded from 153 contact pairs in 27 patients. We investigated whether power amplitudes in theta and beta bands correlate with dystonic symptom severity across patients...
November 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29130521/a-variant-in-ppp4r3a-protects-against-alzheimer-related-metabolic-decline
#18
Leigh Christopher, Valerio Napolioni, Raiyan R Khan, Summer S Han, Michael D Greicius
OBJECTIVES: A reduction in glucose metabolism in the posterior cingulate cortex (PCC) predicts conversion to Alzheimer's disease (AD) and tracks disease progression, signifying its importance in AD. We aimed to use decline in PCC glucose metabolism as a proxy for the development and progression of AD to discover common genetic variants associated with disease vulnerability. METHODS: We performed a genome-wide association study (GWAS) of decline in PCC [(18) F] FDG PET measured in Alzheimer's Disease Neuroimaging Initiative (ADNI) participants (n=606)...
November 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29130510/heterogenous-migraine-aura-symptoms-correlate-with-visual-cortex-fmri-responses
#19
Nanna Arngrim, Anders Hougaard, Khazar Ahmadi, Mark Bitsch Vestergaard, Henrik Winther Schytz, Faisal Mohammad Amin, Henrik Bo Wiberg Larsson, Jes Olesen, Michael B Hoffmann, Messoud Ashina
OBJECTIVE: Migraine aura is sparsely studied due to the highly challenging task of capturing patients during aura. Cortical spreading depression (CSD) is likely the underlying phenomenon of aura. The possible correlation between the multifaceted phenomenology of aura symptoms and the effects of CSD on the brain has not been ascertained. METHODS: Five migraine patients were studied during various forms of aura symptoms induced by hypoxia, sham or physical exercise and photostimulation...
November 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29092102/nosologic-considerations-in-disorders-of-consciousness
#20
James L Bernat
No abstract text is available yet for this article.
November 1, 2017: Annals of Neurology
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