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Annals of Neurology

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https://www.readbyqxmd.com/read/28224701/pathogenic-role-of-anti-srp-and-anti-hmgcr-antibodies-in-necrotizing-myopathies-myofiber-atrophy-and-impairment-of-muscle-regeneration-in-necrotizing-autoimmune-myopathies
#1
Louiza Arouche-Delaperche, Yves Allenbach, Damien Amelin, Corinna Preusse, Vincent Mouly, Wladimir Mauhin, Gaelle Dzangue Tchoupou, Laurent Drouot, Olivier Boyer, Werner Stenzel, Gillian Butler-Browne, Olivier Benveniste
OBJECTIVE: Immune mediated necrotizing myopathies (IMNM) may be associated with either anti-SRP or anti-HMGCR antibodies (Abs) and the titer of these Abs is correlated with the disease activity. We investigated if anti-SRP and anti-HMGCR Abs could be involved in muscle damages. METHODS: Muscle biopsies of patients were analyzed for atrophy and regeneration, by measuring the fibers size and by performing immunostaining of neonatal myosin heavy chain. To further understand the role of the Abs in the pathology, we performed muscle cell co-culture with the Abs...
February 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28224671/outcomes-after-diagnosis-of-mild-cognitive-impairment-in-a-large-autopsy-series
#2
Erin L Abner, Richard J Kryscio, Frederick A Schmitt, David W Fardo, Daniela C Moga, Eseosa T Ighodaro, Gregory A Jicha, Lei Yu, Hiroko H Dodge, Chengjie Xiong, Randall L Woltjer, Julie A Schneider, Nigel J Cairns, David A Bennett, Peter T Nelson
OBJECTIVE: Determine clinical and neuropathological outcomes following a clinical diagnosis of mild cognitive impairment (MCI). METHODS: Data were drawn from a large autopsy series (N=1,337) of individuals followed longitudinally from normal or MCI status to death, derived from four Alzheimer's Disease (AD) Centers in the United States. RESULTS: Mean follow-up was 7.9 years. Of the 874 individuals ever diagnosed with MCI, final clinical diagnoses were varied: 39...
February 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28220542/the-gut-microbiome-in-human-neurological-disease-a-review
#3
REVIEW
Helen Tremlett, Kylynda C Bauer, Silke Appel-Cresswell, Brett B Finlay, Emmanuelle Waubant
Almost half the cells and 1% of the unique genes found in our bodies are human, the rest are from microbes; predominantly bacteria, archaea, fungi, and viruses. These microorganisms collectively form the human microbiota, with most colonizing the gut. Recent technological advances, open access data-libraries, and application of high throughput sequencing have allowed these microbes to be identified and their contribution to neurological health examined. Emerging evidence links perturbations in the gut microbiota to neurological disease, including disease risk, activity, and progression...
February 21, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28220527/recessive-mypn-mutations-cause-cap-myopathy-with-occasional-nemaline-rods
#4
Xavière Lornage, Edoardo Malfatti, Chrystel Chéraud, Raphaël Schneider, Valérie Biancalana, Jean-Marie Cuisset, Matteo Garibaldi, Bruno Eymard, Michel Fardeau, Anne Boland, Jean-François Deleuze, Julie Thompson, Robert-Yves Carlier, Johann Böhm, Norma B Romero, Jocelyn Laporte
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies...
February 21, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28220524/language-fmri-and-direct-cortical-stimulation-in-epilepsy-preoperative-planning
#5
Alison Austermuehle, John Cocjin, Reynolds Richard, Shubhi Agrawal, Leigh Sepeta, William D Gaillard, Kareem Zaghloul, Sara Inati, William H Theodore
OBJECTIVE: Presurgical language assessment can help minimize damage to eloquent cortex during resective epilepsy surgery. Two methods for presurgical language mapping are functional MRI (fMRI) and direct cortical stimulation (DCS) of implanted subdural electrodes. We compared fMRI results to DCS to help optimize non-invasive language localization and assess its validity. METHODS: We studied 19 patients referred for presurgical evaluation of drug-resistant epilepsy...
February 21, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28198092/the-burden-of-neurological-disease-in-the-united-states-a-summary-report-and-call-to-action
#6
EDITORIAL
Clifton L Gooch, Etienne Pracht, Amy R Borenstein
: The United States carries a substantial fiscal burden resulting from the nearly 100 million Americans with neurological disease. The combined annual costs of Alzheimer's and other dementias, low back pain, stroke, traumatic brain injury, migraine, epilepsy, multiple sclerosis, spinal cord injury and Parkinson's disease totals nearly 800 billion dollars and is rapidly rising due to the aging of the U.S. POPULATION: We provide a summary overview of the substantial current and future economic impact of neurological disease, and provide an action plan for reducing this burden through neurological research and enhanced clinical management of neurological disorders in the United States...
February 15, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28196396/obituary-bruce-o-berg-md
#7
Donna Ferriero
No abstract text is available yet for this article.
February 14, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28195428/blood-brain-barrier-breakdown-in-reversible-cerebral-vasoconstriction-syndrome-implications-for-pathophysiology-and-diagnosis
#8
Mi Ji Lee, Jihoon Cha, Hyun Ah Choi, Sook-Young Woo, Seonwoo Kim, Shuu-Jiun Wang, Chin-Sang Chung
OBJECTIVE: Diagnosis of reversible cerebral vasoconstriction syndrome (RCVS) is currently based on luminographic findings of vasoconstriction. In addition to vasoconstriction, the blood-brain barrier (BBB) breakdown has been postulated as a central mechanism of RCVS. Our aim was to document BBB breakdown in patients with RCVS and its role for the pathophysiology-based diagnosis of RCVS. METHODS: We prospectively recruited 72 consecutive patients with thunderclap headache who did not have aneurysmal subarachnoid hemorrhage from April 2015 to July 2016 at the Samsung Medical Center...
February 13, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28195360/what-is-the-pathway-forward-for-the-surgical-management-of-essential-tremor
#9
Elan D Louis, Amar Patel, Jason L Gerrard
No abstract text is available yet for this article.
February 13, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28195357/one-step-backward-magnetic-resonance-guided-focused-ultrasound-thalamotomy-for-the-treatment-of-medically-refractory-tremor
#10
Ron L Alterman
No abstract text is available yet for this article.
February 13, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28177553/in-reply
#11
LETTER
Jonathan Elmer, Jon C Rittenberger, Clifton W Callaway, Maria Baldwin
No abstract text is available yet for this article.
February 8, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28177552/phenotypes-of-early-myoclonus-do-not-predict-outcome
#12
LETTER
Alexandra S Reynolds, Holmes G Manisha, Sachin Agarwal, Jan Claassen
No abstract text is available yet for this article.
February 8, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28165634/pharmacogenetics-of-antiepileptic-drug-efficacy-in-childhood-absence-epilepsy
#13
Tracy A Glauser, Katherine Holland, Valerie P O'Brien, Mehdi Keddache, Lisa J Martin, Peggy O Clark, Avital Cnaan, Dennis Dlugos, Deborah G Hirtz, Shlomo Shinnar, Gregory Grabowski
OBJECTIVE: Determine if common polymorphisms in CACNA1G, CACNA1H, CACNA1I, and ABCB1 are associated with differential short term seizure outcome in Childhood Absence Epilepsy (CAE). METHODS: 446 CAE children in a randomized double blind trial of ethosuximide, lamotrigine and valproate had short term seizure outcome determined. Associations between polymorphisms (minor allele frequency ≥15%) in four genes and seizure outcomes were assessed. In vitro electrophysiology on transfected CACNA1H channels determined impact of one variant on T-type calcium channel responsiveness to ethosuximide...
February 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28133863/genetics-and-genotype-phenotype-correlations-in-early-onset-epileptic-encephalopathy-with-burst-suppression
#14
Heather E Olson, McKenna Kelly, Christopher M LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain, Sriram Ramgopal, Masanori Takeoka, Mark H Libenson, Kristina Julich, Tobias Loddenkemper, Eric D Marsh, Devorah Segal, Susan Koh, Michael S Salman, Alex R Paciorkowski, Edward Yang, Ann M Bergin, Beth Rosen Sheidley, Annapurna Poduri
OBJECTIVE: We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and evaluate genotype-phenotype correlations. METHODS: We enrolled 33 patients with a referral diagnosis of Ohtahara syndrome or early myoclonic encephalopathy without malformations of cortical development. We performed detailed phenotypic assessment including seizure presentation, EEG, and MRI. We confirmed burst suppression in 28 out of 33 patients...
January 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28133816/typical-and-atypical-pathology-in-primary-progressive-aphasia-variants
#15
Edoardo G Spinelli, Maria Luisa Mandelli, Zachary A Miller, Miguel A Santos-Santos, Stephen M Wilson, Federica Agosta, Lea T Grinberg, Eric J Huang, John Q Trojanowski, Marita Meyer, Maya L Henry, Giancarlo Comi, Gil Rabinovici, Howard J Rosen, Massimo Filippi, Bruce L Miller, William W Seeley, Maria Luisa Gorno-Tempini
OBJECTIVE: To characterize in vivo signatures of pathological diagnosis in a large cohort of patients with primary progressive aphasia (PPA) variants defined by current diagnostic classification. METHODS: Extensive clinical, cognitive, neuroimaging, and neuropathological data were collected from 69 patients with sporadic PPA, divided into 29 semantic (svPPA), 25 non-fluent (nfvPPA), 11 logopenic (lvPPA), and 4 mixed PPA. Patterns of grey matter (GM) and white matter (WM) atrophy at presentation were assessed and tested as predictors of pathological diagnosis using support vector machine (SVM) algorithms...
January 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28133780/identity-of-the-purkinje-cell-cytoplasmic-antibody-type-2-autoantibody-antigen-is-finally-revealed
#16
Christian Gonzalez-Billault
No abstract text is available yet for this article.
January 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28120506/new-diagnostic-criteria-for-neurocysticercosis-practical-dilemmas
#17
LETTER
Roosy Aulakh
No abstract text is available yet for this article.
January 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28120395/reply
#18
LETTER
Arturo Carpio, Agnès Fleury, Matthew L Romo, Josemir W Sander
No abstract text is available yet for this article.
January 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28076894/electrical-impedance-myography-for-assessment-of-duchenne-muscular-dystrophy
#19
Seward B Rutkove, Kush Kapur, Craig Zaidman, Jim S Wu, Amy Pasternak, Lavanya Madabusi, Sung Yim, Adam Pacheck, Heather Szelag, Tim Harrington, Basil T Darras
OBJECTIVE: Sensitive, objective and easily applied methods for evaluating disease progression and response to therapy are needed for clinical trials in Duchenne muscular dystrophy (DMD). In this study, we evaluated whether electrical impedance myography (EIM) could serve this purpose. METHODS: In this non-blinded study, 36 boys with DMD and 29 age-similar healthy boys underwent multifrequency EIM measurements for up to 2 years on 6 muscles unilaterally along with functional assessments...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28076893/-pseudo-feeders-on-fetal-mri-predict-outcome-in-vein-of-galen-malformations
#20
Guillaume Saliou, Irène Vraka, Jean-Paul Teglas, Marie-Victoire Senat, Philippe Durand, Claire Colmant, Augustin Ozanne, Jelena Martinovic, Pierre Tissiere, Catherine Adamsbaum
OBJECTIVE: While vein of Galen aneurysmal malformations (VGAM) can be diagnosed in the fetus, the challenge is predicting the occurrence of its two major complications: cardiopulmonary failure and encephalomalacia. This study attempts to determine which fetal brain MRI features might be used to predict the development of these complications at birth. METHODS: The cohort was extracted from a prospectively-assembled database of VGAM cases managed at a single referral centre from 2000 to 2014...
January 11, 2017: Annals of Neurology
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