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Brain: a Journal of Neurology

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https://www.readbyqxmd.com/read/28498909/beneficial-effect-of-interleukin-2-based-immunomodulation-in-alzheimer-like-pathology
#1
Cira Dansokho, Pierre Aucouturier, Guillaume Dorothée
No abstract text is available yet for this article.
May 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28498902/reply-beneficial-effect-of-interleukin-2-based-immunomodulation-in-alzheimer-like-pathology
#2
Sandro Alves, Guillaume Churlaud, David Klatzmann, Nathalie Cartier
No abstract text is available yet for this article.
May 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28486594/apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#3
Claire J Lansdall, Ian T S Coyle-Gilchrist, P Simon Jones, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Katrina M Dick, Trevor W Robbins, James B Rowe
Apathy and impulsivity are common and disabling consequences of frontotemporal lobar degeneration. They cause substantial carer distress, but their aetiology remains elusive. There are critical limitations to previous studies in this area including (i) the assessment of either apathy or impulsivity alone, despite their frequent co-existence; (ii) the assessment of behavioural changes within single diagnostic groups; and (iii) the use of limited sets of tasks or questions that relate to just one aspect of these multifactorial constructs...
May 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28472332/the-spectrum-of-rem-sleep-related-episodes-in-children-with-type-1-narcolepsy
#4
Elena Antelmi, Fabio Pizza, Stefano Vandi, Giulia Neccia, Raffaele Ferri, Oliviero Bruni, Marco Filardi, Gaetano Cantalupo, Rocco Liguori, Giuseppe Plazzi
Type 1 narcolepsy is a central hypersomnia due to the loss of hypocretin-producing neurons and characterized by cataplexy, excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. In children, close to the disease onset, type 1 narcolepsy has peculiar clinical features with severe cataplexy and a complex admixture of movement disorders occurring while awake. Motor dyscontrol during sleep has never been systematically investigated. Suspecting that abnormal motor control might affect also sleep, we systematically analysed motor events recorded by means of video polysomnography in 40 children with type 1 narcolepsy (20 females; mean age 11...
May 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28460007/consciousness-post-corpus-callosotomy
#5
Kimford J Meador, David W Loring, K Sathian
No abstract text is available yet for this article.
April 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28460069/cognitive-reserve-and-tmem106b-genotype-modulate-brain-damage-in-presymptomatic-frontotemporal-dementia-a-genfi-study
#6
Enrico Premi, Mario Grassi, John van Swieten, Daniela Galimberti, Caroline Graff, Mario Masellis, Carmela Tartaglia, Fabrizio Tagliavini, James B Rowe, Robert Laforce, Elizabeth Finger, Giovanni B Frisoni, Alexandre de Mendonça, Sandro Sorbi, Stefano Gazzina, Maura Cosseddu, Silvana Archetti, Roberto Gasparotti, Marta Manes, Antonella Alberici, Manuel J Cardoso, Martina Bocchetta, David M Cash, Sebastian Ourselin, Alessandro Padovani, Jonathan D Rohrer, Barbara Borroni
Frontotemporal dementia is a heterogeneous neurodegenerative disorder with around a third of cases having autosomal dominant inheritance. There is wide variability in phenotype even within affected families, raising questions about the determinants of the progression of disease and age at onset. It has been recently demonstrated that cognitive reserve, as measured by years of formal schooling, can counteract the ongoing pathological process. The TMEM106B genotype has also been found to be a modifier of the age at disease onset in frontotemporal dementia patients with TDP-43 pathology...
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28460015/rare-missense-mutations-in-p2ry11-in-narcolepsy-with-cataplexy
#7
Matilda Degn, Yves Dauvilliers, Karin Dreisig, Régis Lopez, Corinne Pfister, Sylvain Pradervand, Birgitte Rahbek Kornum, Mehdi Tafti
The sleep disorder narcolepsy with cataplexy is characterized by a highly specific loss of hypocretin (orexin) neurons, leading to the hypothesis that the condition is caused by an immune or autoimmune mechanism. All genetic variants associated with narcolepsy are immune-related. Among these are single nucleotide polymorphisms in the P2RY11-EIF3G locus. It is unknown how these genetic variants affect narcolepsy pathogenesis and whether the effect is directly related to P2Y11 signalling or EIF3G function. Exome sequencing in 18 families with at least two affected narcolepsy with cataplexy subjects revealed non-synonymous mutations in the second exon of P2RY11 in two families, and P2RY11 re-sequencing in 250 non-familial cases and 135 healthy control subjects revealed further six different non-synonymous mutations in the second exon of P2RY11 in seven patients...
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28459997/hypomorphic-mutations-in-polr3a-are-a-frequent-cause-of-sporadic-and-recessive-spastic-ataxia
#8
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA variants are suspected to account for a substantial part of undiscovered causes of rare diseases. Here we identified mutations located deep in introns of POLR3A to be a frequent cause of hereditary spastic paraplegia and cerebellar ataxia. First, whole-exome sequencing findings in a recessive spastic ataxia family turned our attention to intronic variants in POLR3A, a gene previously associated with hypomyelinating leukodystrophy type 7...
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28459961/crowdsourcing-seizure-detection-algorithm-development-and-validation-on-human-implanted-device-recordings
#9
Steven N Baldassano, Benjamin H Brinkmann, Hoameng Ung, Tyler Blevins, Erin C Conrad, Kent Leyde, Mark J Cook, Ankit N Khambhati, Joost B Wagenaar, Gregory A Worrell, Brian Litt
There exist significant clinical and basic research needs for accurate, automated seizure detection algorithms. These algorithms have translational potential in responsive neurostimulation devices and in automatic parsing of continuous intracranial electroencephalography data. An important barrier to developing accurate, validated algorithms for seizure detection is limited access to high-quality, expertly annotated seizure data from prolonged recordings. To overcome this, we hosted a kaggle.com competition to crowdsource the development of seizure detection algorithms using intracranial electroencephalography from canines and humans with epilepsy...
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28459950/tremor-stability-index-a-new-tool-for-differential-diagnosis-in-tremor-syndromes
#10
Lazzaro di Biase, John-Stuart Brittain, Syed Ahmar Shah, David J Pedrosa, Hayriye Cagnan, Alexandre Mathy, Chiung Chu Chen, Juan Francisco Martín-Rodríguez, Pablo Mir, Lars Timmerman, Petra Schwingenschuh, Kailash Bhatia, Vincenzo Di Lazzaro, Peter Brown
Misdiagnosis among tremor syndromes is common, and can impact on both clinical care and research. To date no validated neurophysiological technique is available that has proven to have good classification performance, and the diagnostic gold standard is the clinical evaluation made by a movement disorders expert. We present a robust new neurophysiological measure, the tremor stability index, which can discriminate Parkinson's disease tremor and essential tremor with high diagnostic accuracy. The tremor stability index is derived from kinematic measurements of tremulous activity...
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28453781/dramatic-science-or-scientific-drama
#11
Christopher G Goetz
No abstract text is available yet for this article.
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28449038/real-time-imaging-of-single-neuronal-cell-apoptosis-in-patients-with-glaucoma
#12
Maria F Cordeiro, Eduardo M Normando, M Jorge Cardoso, Serge Miodragovic, Seham Jeylani, Benjamin M Davis, Li Guo, Sebastien Ourselin, Roger A'Hern, Philip A Bloom
Retinal cell apoptosis occurs in many ocular neurodegenerative conditions including glaucoma-the major cause of irreversible blindness worldwide. Using a new imaging technique that we have called DARC (detection of apoptosing retinal cells), which until now has only been demonstrated in animal models, we assessed if annexin 5 labelled with fluorescent dye DY-776 (ANX776) could be used safely in humans to identify retinal cell apoptosis. Eight patients with glaucomatous neurodegeneration and evidence of progressive disease, and eight healthy subjects were randomly assigned to intravenous ANX776 doses of 0...
April 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28444235/right-hemisphere-structural-adaptation-and-changing-language-skills-years-after-left-hemisphere-stroke
#13
Thomas M H Hope, Alex P Leff, Susan Prejawa, Rachel Bruce, Zula Haigh, Louise Lim, Sue Ramsden, Marion Oberhuber, Philipp Ludersdorfer, Jenny Crinion, Mohamed L Seghier, Cathy J Price
Stroke survivors with acquired language deficits are commonly thought to reach a 'plateau' within a year of stroke onset, after which their residual language skills will remain stable. Nevertheless, there have been reports of patients who appear to recover over years. Here, we analysed longitudinal change in 28 left-hemisphere stroke patients, each more than a year post-stroke when first assessed-testing each patient's spoken object naming skills and acquiring structural brain scans twice. Some of the patients appeared to improve over time while others declined; both directions of change were associated with, and predictable given, structural adaptation in the intact right hemisphere of the brain...
April 24, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28444141/imaging-blood-brain-barrier-dysfunction-as-a-biomarker-for-epileptogenesis
#14
Guy Bar-Klein, Svetlana Lublinsky, Lyn Kamintsky, Iris Noyman, Ronel Veksler, Hotjensa Dalipaj, Vladimir V Senatorov, Evyatar Swissa, Dror Rosenbach, Netta Elazary, Dan Z Milikovsky, Nadav Milk, Michael Kassirer, Yossi Rosman, Yonatan Serlin, Arik Eisenkraft, Yoash Chassidim, Yisrael Parmet, Daniela Kaufer, Alon Friedman
A biomarker that will enable the identification of patients at high-risk for developing post-injury epilepsy is critically required. Microvascular pathology and related blood-brain barrier dysfunction and neuroinflammation were shown to be associated with epileptogenesis after injury. Here we used prospective, longitudinal magnetic resonance imaging to quantitatively follow blood-brain barrier pathology in rats following status epilepticus, late electrocorticography to identify epileptic animals and post-mortem immunohistochemistry to confirm blood-brain barrier dysfunction and neuroinflammation...
April 23, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28444220/a-panel-study-on-patients-with-dominant-cerebellar-ataxia-highlights-the-frequency-of-channelopathies
#15
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stevanin, Alexandra Durr
Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge in the field. While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, have been extensively characterized in large cohorts, there is a need for comprehensive assessment of frequency and phenotype of more 'conventional' ataxias...
April 21, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430875/progressive-atrophy-of-the-globus-pallidus-primary-atrophy-of-the-pallidal-system-a-system-disease-of-the-paralysis-agitans-type-characterized-by-atrophy-of-the-motor-cells-of-the-corpus-striatum-a-contribution-to-the-function-of-the-corpus-striatum-by-j-ramsay
#16
https://www.readbyqxmd.com/read/28430869/inhibition-of-the-p2x7-panx1-complex-suppresses-spreading-depolarization-and-neuroinflammation
#17
Shih-Pin Chen, Tao Qin, Jessica L Seidel, Yi Zheng, Matthias Eikermann, Michel D Ferrari, Arn M J M van den Maagdenberg, Michael A Moskowitz, Cenk Ayata, Katharina Eikermann-Haerter
Spreading depolarization is a wave of neuronal and glial depolarization. Within minutes after spreading depolarization, the neuronal hemichannel pannexin 1 (PANX1) opens and forms a pore complex with the ligand-gated cation channel P2X7, allowing the release of excitatory neurotransmitters to sustain spreading depolarization and activate neuroinflammation. Here, we explore the hypothesis that the P2X7-PANX1 pore complex is a critical determinant of spreading depolarization susceptibility with important consequences for neuroinflammation and trigeminovascular activation...
April 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430857/repurposed-drugs-targeting-eif2%C3%AE-p-mediated-translational-repression-prevent-neurodegeneration-in-mice
#18
Mark Halliday, Helois Radford, Karlijn A M Zents, Collin Molloy, Julie A Moreno, Nicholas C Verity, Ewan Smith, Catharine A Ortori, David A Barrett, Martin Bushell, Giovanna R Mallucci
Signalling through the PERK/eIF2α-P branch of the unfolded protein response plays a critical role in controlling protein synthesis rates in cells. This pathway is overactivated in brains of patients with Alzheimer's disease and related disorders and has recently emerged as a promising therapeutic target for these currently untreatable conditions. Thus, in mouse models of neurodegenerative disease, prolonged overactivation of PERK/eIF2α-P signalling causes sustained attenuation of protein synthesis, leading to memory impairment and neuronal loss...
April 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430974/using-transcranial-magnetic-stimulation-of-the-undamaged-brain-to-identify-lesion-sites-that-predict-language-outcome-after-stroke
#19
Diego L Lorca-Puls, Andrea Gajardo-Vidal, Mohamed L Seghier, Alexander P Leff, Varun Sethi, Susan Prejawa, Thomas M H Hope, Joseph T Devlin, Cathy J Price
Transcranial magnetic stimulation focused on either the left anterior supramarginal gyrus or opercular part of the left inferior frontal gyrus has been reported to transiently impair the ability to perform phonological more than semantic tasks. Here we tested whether phonological processing abilities were also impaired following lesions to these regions in right-handed, English speaking adults, who were investigated at least 1 year after a left-hemisphere stroke. When our regions of interest were limited to 0...
April 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430885/lesion-mapping-of-stroke-related-erectile-dysfunction
#20
Klemens Winder, Frank Seifert, Martin Köhrmann, Carl Crodel, Stephan Kloska, Arnd Dörfler, Katharina M Hösl, Stefan Schwab, Max J Hilz
Acute ischaemic stroke in brain areas contributing to male sexual function may impair erectile function depending on the lesion site. This study intended to determine associations between stroke-related erectile dysfunction and cerebral ischaemic lesion sites using voxel-based lesion mapping. In 52 males (mean age 60.5 ± 10.5 years) with first-ever ischaemic strokes, we assessed erectile function after and retrospectively 3 months prior to the stroke using scores of the 5-item International Index of Erectile Function-5 questionnaire...
April 18, 2017: Brain: a Journal of Neurology
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