General Neurology

Fuad Al Mutairi, Fatema Alzahrani, Farouq Ababneh, Amna A Kashgari, Fowzan S Alkuraya January 23, 2018

ABSTRACT

Neural tube defects (NTD) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTD are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model.

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Régis Lopez, Yun Shen, Sofiene Chenini, Anna Laura Rassu, Elisa Evangelista, Lucie Barateau, Isabelle Jaussent, Yves Dauvilliers January 23, 2018

ABSTRACT

Study objectives:

To assess video-polysomnographic (vPSG) criteria and their cut-off values for the diagnosis of disorders of arousal (DOA; sleepwalking, sleep terror).

Methods:

One hundred and sixty adult patients with DOA and 50 sex- and age-matched healthy participants underwent a clinical evaluation and vPSG assessment to quantify slow wave sleep (SWS) interruptions (SWS fragmentation index; slow/mixed and fast arousal ratios and indexes per hour) and the associated behaviors.

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Sonja Suntrup-Krueger, Corinna Ringmaier, Paul Muhle, Andreas Wollbrink, Andre Kemmling, Uta Hanning, Inga Claus, Tobias Warnecke, Inga Teismann, Christo Pantev, Rainer Dziewas January 19, 2018

Abstract

Objective: We evaluated whether transcranial direct current stimulation (tDCS) is able to enhance dysphagia rehabilitation following stroke. Besides relating clinical effects with neuroplastic changes in cortical swallowing processing we aimed to identify factors influencing treatment success.

Methods: In this double-blind, randomized study 60 acute dysphagic stroke patients received contralesional anodal (1 mA, 20 min) or sham tDCS on four consecutive days.

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Zoe Nicole Talbot, Fraser Todd Sparks, Dino Dvorak, Bridget Mary Curran, Juan Marcos Alarcon, André Antonio Fenton January 18, 2018

Talbot et al. report normal location-specific hippocampus CA1 place cell responses, but dysregulated synaptic function and discoordinated spike timing in fragile X syndrome (FXS) model mice, pointing to abnormally timed interactions between normally tuned single-neuron responses in FXS-associated intellectual disability and autism.… Read More...

Mariana C. Rocha, Hannah S. Rosa, John P. Grady, Emma L. Blakely, Langping He, Nadine Romain, Ronald G. Haller, Jane Newman, Robert McFarland, Yi Shiau Ng, Grainne S. Gorman, Andrew M. Schaefer, Helen A. Tuppen, Robert W. Taylor, Doug M. Turnbull January 16, 2018

ABSTRACT

Objective. Single, large-scale deletions in mitochondrial DNA (mtDNA) are a common cause of mitochondrial disease. This study aimed to investigate the relationship between the genetic defect and molecular phenotype to improve understanding of pathogenic mechanisms associated with single, large-scale mtDNA deletions in skeletal muscle.

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Zsolt Bagi, Dieter D. Brandner, Phuong Le, David W. McNeal, Xi Gong, Huijuan Dou, David J Fulton, Allison Beller, Thuan Ngyuen, Eric B. Larson, Thomas J. Montine, C. Dirk Keene, Stephen A. Back January 16, 2018

Abstract

Objective: Microvascular brain injury (mVBI) is a common pathologic correlate of vascular contributions to cognitive impairment and dementia (VCID) that leads to white matter injury (WMI). VCID appears to arise from chronic recurrent white matter ischemia that triggers oxidative stress and an increase in total oligodendrocyte lineage cells.

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Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A. Reghan Foley, Diana X Bharucha-Goebel, Sudha K Kessler, Sabrina W. Yum, Peter B. Crino, Miao He, Douglas C Wallace, Carsten G. Bönnemann January 16, 2018

ABSTRACT

Objective: Autosomal recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiologic function of TBCK remains unclear, loss-of-function mutations are associated with inhibition of mTORC1 signaling. As mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative course have defects in autophagic-lysosomal dysfunction.

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Divyanshu Dubey, Sean J. Pittock, Cecilia R. Kelly, Andrew McKeon, Alfonso Sebastian Lopez-Chiriboga, Vanda Lennon, Avi Gadoth, Carin Y. Smith, Sandra C. Bryant, Christopher J. Klein, Allen J. Aksamit, Michel Toledano, Bradley F. Boeve, Jan Mendelt Tilemma, Eoin P Flanagan January 16, 2018

Abstract

Objectives We evaluate incidence and prevalence of autoimmune encephalitis and compare the epidemiology of autoimmune and infectious encephalitis.

Methods We performed a population-based comparative study of the incidence and prevalence of autoimmune and infectious encephalitis in Olmsted County, USA. Autoimmune encephalitis diagnosis and subgroups were defined by 2016 diagnostic criteria and infectious encephalitis diagnosis required a confirmed infectious pathogen.

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Stefan T. Gerner, Joji B. Kuramatsu, Jochen A. Sembill, Maximilian I. Sprügel, Matthias Endres, Karl Georg Haeusler, Peter Vajkoczy, Peter A. Ringleb, Jan Purrucker, Timolaos Rizos, Frank Erbguth, Peter D. Schellinger, Gereon R. Fink, Henning Stetefeld, Hauke Schneider, Hermann Neugebauer, Joachim Röther, Joseph Claßen, Dominik Michalski, Arnd Dörfler, Stefan Schwab, Hagen B. Huttner January 16, 2018

Abstract

Objective: To investigate parameters associated with hematoma enlargement in non-vitamin-K-antagonist-anticoagulant(NOAC)-related intracerebral hemorrhage(ICH).

Methods: Retrospective cohort study including individual patient data of 190 patients with NOAC-associated ICH over a 5-year-period(2011-2015) at 19 Departments of Neurology across Germany. Primary outcome was the association of PCC-administration with hematoma enlargement.

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