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Brain: a Journal of Neurology

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https://www.readbyqxmd.com/read/28444235/right-hemisphere-structural-adaptation-and-changing-language-skills-years-after-left-hemisphere-stroke
#1
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
#2
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
#3
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
#4
https://www.readbyqxmd.com/read/28430869/inhibition-of-the-p2x7-panx1-complex-suppresses-spreading-depolarization-and-neuroinflammation
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28430870/potential-mechanisms-of-white-matter-injury-in-the-acute-phase-of-experimental-subarachnoid-haemorrhage
#9
Yue Wu, Jianhua Peng, Jinwei Pang, Xiaochuan Sun, Yong Jiang
No abstract text is available yet for this article.
April 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430860/increased-brainstem-perfusion-but-no-blood-brain-barrier-disruption-during-attacks-of-migraine-with-aura
#10
Anders Hougaard, Faisal M Amin, Casper E Christensen, Samaira Younis, Frauke Wolfram, Stig P Cramer, Henrik B W Larsson, Messoud Ashina
The migraine aura is characterized by transient focal cortical disturbances causing dramatic neurological symptoms that are usually followed by migraine headache. It is currently not understood how the aura symptoms are related to the headache phase of migraine. Animal studies suggest that cortical spreading depression, the likely mechanism of migraine aura, causes disruption of the blood-brain barrier and noxious stimulation of trigeminal afferents leading to activation of brainstem nuclei and triggering of migraine headache...
April 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430856/a-comprehensive-analysis-of-rare-genetic-variation-in-amyotrophic-lateral-sclerosis-in-the-uk
#11
Sarah Morgan, Aleksey Shatunov, William Sproviero, Ashley R Jones, Maryam Shoai, Deborah Hughes, Ahmad Al Khleifat, Andrea Malaspina, Karen E Morrison, Pamela J Shaw, Christopher E Shaw, Katie Sidle, Richard W Orrell, Pietro Fratta, John Hardy, Alan Pittman, Ammar Al-Chalabi
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation in a panel of known amyotrophic lateral sclerosis genes in 1126 patient samples and 613 controls. About 10% of patients were predicted to carry a pathological expansion of the C9orf72 gene. We found an increased burden of rare variants in patients within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP, OPTN and UBQLN2...
April 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28402511/serotonergic-modulation-as-a-pharmacological-modality-in-the-treatment-of-dravet-syndrome
#12
Peter de Witte, Lieven Lagae
No abstract text is available yet for this article.
April 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28402445/de-novo-p-t362r-mutation-in-morc2-causes-early-onset-cerebellar-ataxia-axonal-polyneuropathy-and-nocturnal-hypoventilation
#13
Ginevra Zanni, Marta Nardella, Sabina Barresi, Emanuele Bellacchio, Marcello Niceta, Andrea Ciolfi, Stefano Pro, Stefano D'Arrigo, Marco Tartaglia, Enrico Bertini
No abstract text is available yet for this article.
April 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28398476/glycation-potentiates-%C3%AE-synuclein-associated-neurodegeneration-in-synucleinopathies
#14
Hugo Vicente Miranda, Éva M Szego, Luís M A Oliveira, Carlo Breda, Ekrem Darendelioglu, Rita M de Oliveira, Diana G Ferreira, Marcos A Gomes, Ruth Rott, Márcia Oliveira, Francesca Munari, Francisco J Enguita, Tânia Simões, Eva F Rodrigues, Michael Heinrich, Ivo C Martins, Irina Zamolo, Olaf Riess, Carlos Cordeiro, Ana Ponces-Freire, Hilal A Lashuel, Nuno C Santos, Luisa V Lopes, Wei Xiang, Thomas M Jovin, Deborah Penque, Simone Engelender, Markus Zweckstetter, Jochen Klucken, Flaviano Giorgini, Alexandre Quintas, Tiago F Outeiro
α-Synuclein misfolding and aggregation is a hallmark in Parkinson's disease and in several other neurodegenerative diseases known as synucleinopathies. The toxic properties of α-synuclein are conserved from yeast to man, but the precise underpinnings of the cellular pathologies associated are still elusive, complicating the development of effective therapeutic strategies. Combining molecular genetics with target-based approaches, we established that glycation, an unavoidable age-associated post-translational modification, enhanced α-synuclein toxicity in vitro and in vivo, in Drosophila and in mice...
April 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28387812/gene-based-association-studies-report-genetic-links-for-clinical-subtypes-of-frontotemporal-dementia
#15
Aniket Mishra, Raffaele Ferrari, Peter Heutink, John Hardy, Yolande Pijnenburg, Danielle Posthuma
Genome-wide association studies in frontotemporal dementia showed limited success in identifying associated loci. This is possibly due to small sample size, allelic heterogeneity, small effect sizes of single genetic variants, and the necessity to statistically correct for testing millions of genetic variants. To overcome these issues, we performed gene-based association studies on 3348 clinically identified frontotemporal dementia cases and 9390 controls (discovery, replication and joint-cohort analyses). We report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia...
April 5, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28379499/corrigendum
#16
(no author information available yet)
No abstract text is available yet for this article.
April 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28379303/restoring-neuronal-progranulin-reverses-deficits-in-a-mouse-model-of-frontotemporal-dementia
#17
Andrew E Arrant, Anthony J Filiano, Daniel E Unger, Allen H Young, Erik D Roberson
Loss-of-function mutations in progranulin (GRN), a secreted glycoprotein expressed by neurons and microglia, are a common autosomal dominant cause of frontotemporal dementia, a neurodegenerative disease commonly characterized by disrupted social and emotional behaviour. GRN mutations are thought to cause frontotemporal dementia through progranulin haploinsufficiency, therefore, boosting progranulin expression from the intact allele is a rational treatment strategy. However, this approach has not been tested in an animal model of frontotemporal dementia and it is unclear if boosting progranulin could correct pre-existing deficits...
March 29, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28379295/reply-heterozygous-pink1-p-g411s-in-rapid-eye-movement-sleep-behaviour-disorder
#18
Andreas Puschmann, Fabienne C Fiesel, Thomas R Caulfield, Roman Hudec, Maya Ando, Dominika Truban, Xu Hou, Kotaro Ogaki, Michael G Heckman, Elle D James, Maria Swanberg, Itzia Jimenez-Ferrer, Oskar Hansson, Grzegorz Opala, Joanna Siuda, Magdalena Boczarska-Jedynak, Andrzej Friedman, Dariusz Koziorowski, Monika Rudzinska-Bar, Jan O Aasly, Timothy Lynch, George D Mellick, Megha Mohan, Peter A Silburn, Yanosh Sanotsky, Carles Vilariño-Güell, Matthew J Farrer, Li Chen, Valina L Dawson, Ted M Dawson, Zbigniew K Wszolek, Owen A Ross, Wolfdieter Springer
No abstract text is available yet for this article.
March 29, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28379291/heterozygous-pink1-p-g411s-in-rapid-eye-movement-sleep-behaviour-disorder
#19
Ziv Gan-Or, Jennifer A Ruskey, Dan Spiegelman, Isabelle Arnulf, Yves Dauvilliers, Birgit Högl, Christelle Monaca-Charley, Ronald B Postuma, Jacques Y Montplaisir, Guy A Rouleau
No abstract text is available yet for this article.
March 29, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28369282/recessive-dystrophic-epidermolysis-bullosa-results-in-painful-small-fibre-neuropathy
#20
Sofia von Bischhoffshausen, Dinka Ivulic, Paola Alvarez, Victor C Schuffeneger, Juan Idiaquez, Constanza Fuentes, Pilar Morande, Ignacia Fuentes, Francis Palisson, David L H Bennett, Margarita Calvo
Small fibres in the skin are vulnerable to damage in metabolic or toxic conditions such as diabetes mellitus or chemotherapy resulting in small fibre neuropathy and associated neuropathic pain. Whether injury to the most distal portion of sensory small fibres due to a primary dermatological disorder can cause neuropathic pain is still unclear. Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in which mutations of proteins of the dermo-epidermal junction lead to cycles of blistering followed by regeneration of the skin...
March 28, 2017: Brain: a Journal of Neurology
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