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Brain: a Journal of Neurology

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https://www.readbyqxmd.com/read/27864270/in-vitro-effects-of-a-human-monoclonal-antibody-against-the-n-methyl-d-aspartate-receptor
#1
LETTER
Josep Dalmau
No abstract text is available yet for this article.
November 17, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27864269/reply-in-vitro-effects-of-a-human-monoclonal-antibody-against-the-n-methyl-d-aspartate-receptor
#2
LETTER
Jakob Kreye, Nina K Wenke, Craig C Garner, Hedda Wardemann, Harald Prüss
No abstract text is available yet for this article.
November 17, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27864268/de-novo-gabrg2-mutations-associated-with-epileptic-encephalopathies
#3
Dingding Shen, Ciria C Hernandez, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth Shiedley, Alex Rotenberg, Alexandre N Datta, Steffen Leiz, Steffi Patzer, Rainer Boor, Kerri Ramsey, Ethan Goldberg, Ingo Helbig, Xilma R Ortiz-Gonzalez, Johannes R Lemke, Eric D Marsh, Robert L Macdonald
Epileptic encephalopathies are a devastating group of severe childhood onset epilepsies with medication-resistant seizures and poor developmental outcomes. Many epileptic encephalopathies have a genetic aetiology and are often associated with de novo mutations in genes mediating synaptic transmission, including GABAA receptor subunit genes. Recently, we performed next generation sequencing on patients with a spectrum of epileptic encephalopathy phenotypes, and we identified five novel (A106T, I107T, P282S, R323W and F343L) and one known (R323Q) de novo GABRG2 pathogenic variants (mutations) in eight patients...
November 17, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27864267/clinical-behaviour-of-spinocerebellar-ataxia-type-12-and-intermediate-length-abnormal-cag-repeats-in-ppp2r2b
#4
Achal K Srivastava, Amit Takkar, Ajay Garg, Mohammed Faruq
Spinocerebellar ataxia type 12 (SCA12) is a rare neurodegenerative disorder caused by CAG repeat expansion in the PPP2R2B gene. Previously, the causal length of CAG repeats ascribed to SCA12 was more than 51; however, a few reports have also described unusual occurrence of CAG repeat length 36-51 repeats among patients of different geographical population, with atypical clinical association. From our systematic search for SCA12 in a genetic screening programme, we have identified a large number of SCA12 cases...
November 17, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27836833/the-whole-brain-pattern-of-magnetic-susceptibility-perturbations-in-parkinson-s-disease
#5
Julio Acosta-Cabronero, Arturo Cardenas-Blanco, Matthew J Betts, Michaela Butryn, Jose P Valdes-Herrera, Imke Galazky, Peter J Nestor
Although iron-mediated oxidative stress has been proposed as a potential pathomechanism in Parkinson's disease, the global distribution of iron accumulation in Parkinson's disease has not yet been elucidated. This study used a new magnetic resonance imaging contrast, quantitative susceptibility mapping, and state-of-the-art methods to map for the first time the whole-brain landscape of magnetostatic alterations as a surrogate for iron level changes in n = 25 patients with idiopathic Parkinson's disease versus n = 50 matched controls...
November 11, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27818384/hippocampal-t-cell-infiltration-promotes-neuroinflammation-and-cognitive-decline-in-a-mouse-model-of-tauopathy
#6
Cyril Laurent, Guillaume Dorothée, Stéphane Hunot, Elodie Martin, Yann Monnet, Marie Duchamp, Yuan Dong, François-Pierre Légeron, Antoine Leboucher, Sylvie Burnouf, Emilie Faivre, Kévin Carvalho, Raphaëlle Caillierez, Nadège Zommer, Dominique Demeyer, Nathalie Jouy, Veronique Sazdovitch, Susanna Schraen-Maschke, Cécile Delarasse, Luc Buée, David Blum
Alzheimer's disease is characterized by the combined presence of amyloid plaques and tau pathology, the latter being correlated with the progression of clinical symptoms. Neuroinflammatory changes are thought to be major contributors to Alzheimer's disease pathophysiology, even if their precise role still remains largely debated. Notably, to what extent immune responses contribute to cognitive impairments promoted by tau pathology remains poorly understood. To address this question, we took advantage of the THY-Tau22 mouse model that progressively develops hippocampal tau pathology paralleling cognitive deficits and reappraised the interrelationship between tau pathology and brain immune responses...
November 5, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27818383/dominant-lgmd2a-alternative-diagnosis-or-hidden-digenism
#7
LETTER
Amets Sáenz, Adolfo López de Munain
No abstract text is available yet for this article.
November 5, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27818382/pupil-area-and-photopigment-spectral-sensitivity-are-relevant-to-study-of-migraine-photophobia
#8
LETTER
Omar A Mahroo
No abstract text is available yet for this article.
November 5, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27816943/recessive-mutations-in-the-kinase-zak-cause-a-congenital-myopathy-with-fibre-type-disproportion
#9
Nasim Vasli, Elizabeth Harris, Jason Karamchandani, Eric Bareke, Jacek Majewski, Norma B Romero, Tanya Stojkovic, Rita Barresi, Hichem Tasfaout, Richard Charlton, Edoardo Malfatti, Johann Bohm, Chiara Marini-Bettolo, Karine Choquet, Marie-Josée Dicaire, Yi-Hong Shao, Ana Topf, Erin O'Ferrall, Bruno Eymard, Volker Straub, Gonzalo Blanco, Hanns Lochmüller, Bernard Brais, Jocelyn Laporte, Martine Tétreault
Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. We identified two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated protein triple kinase ZAK...
November 5, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27807026/heterozygous-pink1-p-g411s-increases-risk-of-parkinson-s-disease-via-a-dominant-negative-mechanism
#10
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, 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
It has been postulated that heterozygous mutations in recessive Parkinson's genes may increase the risk of developing the disease. In particular, the PTEN-induced putative kinase 1 (PINK1) p.G411S (c.1231G>A, rs45478900) mutation has been reported in families with dominant inheritance patterns of Parkinson's disease, suggesting that it might confer a sizeable disease risk when present on only one allele. We examined families with PINK1 p.G411S and conducted a genetic association study with 2560 patients with Parkinson's disease and 2145 control subjects...
November 2, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27794524/progressive-multiple-sclerosis-from-pathogenic-mechanisms-to-treatment
#11
Jorge Correale, María I Gaitán, María C Ysrraelit, Marcela P Fiol
During the past decades, better understanding of relapsing-remitting multiple sclerosis disease mechanisms have led to the development of several disease-modifying therapies, reducing relapse rates and severity, through immune system modulation or suppression. In contrast, current therapeutic options for progressive multiple sclerosis remain comparatively disappointing and challenging. One possible explanation is a lack of understanding of pathogenic mechanisms driving progressive multiple sclerosis. Furthermore, diagnosis is usually retrospective, based on history of gradual neurological worsening with or without occasional relapses, minor remissions or plateaus...
October 29, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27789521/energy-expenditure-in-frontotemporal-dementia-a-behavioural-and-imaging-study
#12
Rebekah M Ahmed, Ramon Landin-Romero, Tinh-Hai Collet, Agatha A van der Klaauw, Emma Devenney, Elana Henning, Matthew C Kiernan, Olivier Piguet, I Sadaf Farooqi, John R Hodges
Abnormal eating behaviour and metabolic parameters including insulin resistance, dyslipidaemia and body mass index are increasingly recognized as important components of neurodegenerative disease and may contribute to survival. It has previously been established that behavioural variant frontotemporal dementia is associated with abnormal eating behaviour characterized by increased sweet preference. In this study, it was hypothesized that behavioural variant frontotemporal dementia might also be associated with altered energy expenditure...
October 27, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27694152/tdp-43-stage-mixed-pathologies-and-clinical-alzheimer-s-type-dementia
#13
Bryan D James, Robert S Wilson, Patricia A Boyle, John Q Trojanowski, David A Bennett, Julie A Schneider
Hyperphosphorylated transactive response DNA-binding protein 43 (TDP-43, encoded by TARDBP) proteinopathy has recently been described in ageing and in association with cognitive impairment, especially in the context of Alzheimer's disease pathology. To explore the role of mixed Alzheimer's disease and TDP-43 pathologies in clinical Alzheimer's-type dementia, we performed a comprehensive investigation of TDP-43, mixed pathologies, and clinical Alzheimer's-type dementia in a large cohort of community-dwelling older subjects...
September 30, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27679483/your-perspective-and-my-benefit-multiple-lesion-models-of-self-other-integration-strategies-during-social-bargaining
#14
Margherita Melloni, Pablo Billeke, Sandra Baez, Eugenia Hesse, Laura de la Fuente, Gonzalo Forno, Agustina Birba, Indira García-Cordero, Cecilia Serrano, Angelo Plastino, Andrea Slachevsky, David Huepe, Mariano Sigman, Facundo Manes, Adolfo M García, Lucas Sedeño, Agustín Ibáñez
Recursive social decision-making requires the use of flexible, context-sensitive long-term strategies for negotiation. To succeed in social bargaining, participants' own perspectives must be dynamically integrated with those of interactors to maximize self-benefits and adapt to the other's preferences, respectively. This is a prerequisite to develop a successful long-term self-other integration strategy. While such form of strategic interaction is critical to social decision-making, little is known about its neurocognitive correlates...
September 27, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27663624/intentional-gaze-shift-to-neglected-space-a-compensatory-strategy-during-recovery-after-unilateral-spatial-neglect
#15
Yusaku Takamura, Maho Imanishi, Madoka Osaka, Satoko Ohmatsu, Takanori Tominaga, Kentaro Yamanaka, Shu Morioka, Noritaka Kawashima
Unilateral spatial neglect is a common neurological syndrome following predominantly right hemispheric stroke. While most patients lack insight into their neglect behaviour and do not initiate compensatory behaviours in the early recovery phase, some patients recognize it and start to pay attention towards the neglected space. We aimed to characterize visual attention capacity in patients with unilateral spatial neglect with specific focus on cortical processes underlying compensatory gaze shift towards the neglected space during the recovery process...
September 23, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27658421/progressive-gait-ataxia-following-deep-brain-stimulation-for-essential-tremor-adverse-effect-or-lack-of-efficacy
#16
Martin M Reich, Joachim Brumberg, Nicolò G Pozzi, Giorgio Marotta, Jonas Roothans, Mattias Åström, Thomas Musacchio, Leonardo Lopiano, Michele Lanotte, Ralph Lehrke, Andreas K Buck, Jens Volkmann, Ioannis U Isaias
Thalamic deep brain stimulation is a mainstay treatment for severe and drug-refractory essential tremor, but postoperative management may be complicated in some patients by a progressive cerebellar syndrome including gait ataxia, dysmetria, worsening of intention tremor and dysarthria. Typically, this syndrome manifests several months after an initially effective therapy and necessitates frequent adjustments in stimulation parameters. There is an ongoing debate as to whether progressive ataxia reflects a delayed therapeutic failure due to disease progression or an adverse effect related to repeated increases of stimulation intensity...
September 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27658420/like-prions-the-propagation-of-aggregated-tau-and-%C3%AE-synuclein-in-neurodegeneration
#17
Michel Goedert, Masami Masuda-Suzukake, Benjamin Falcon
The abnormal aggregation of a small number of known proteins underlies the most common human neurodegenerative diseases. In tauopathies and synucleinopathies, the normally soluble intracellular proteins tau and α-synuclein become insoluble and filamentous. In recent years, non-cell autonomous mechanisms of aggregate formation have come to the fore, suggesting that nucleation-dependent aggregation may occur in a localized fashion in human tauopathies and synucleinopathies, followed by seed-dependent propagation...
September 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27645800/unbiased-screen-identifies-aripiprazole-as-a-modulator-of-abundance-of-the-polyglutamine-disease-protein-ataxin-3
#18
Maria do Carmo Costa, Naila S Ashraf, Svetlana Fischer, Yemen Yang, Emily Schapka, Gnanada Joshi, Thomas J McQuade, Rahil M Dharia, Mark Dulchavsky, Michelle Ouyang, David Cook, Duxin Sun, Martha J Larsen, Jason E Gestwicki, Sokol V Todi, Magdalena I Ivanova, Henry L Paulson
No disease-modifying treatment exists for the fatal neurodegenerative polyglutamine disease known both as Machado-Joseph disease and spinocerebellar ataxia type 3. As a potential route to therapy, we identified small molecules that reduce levels of the mutant disease protein, ATXN3. Screens of a small molecule collection, including 1250 Food and Drug Administration-approved drugs, in a novel cell-based assay, followed by secondary screens in brain slice cultures from transgenic mice expressing the human disease gene, identified the atypical antipsychotic aripiprazole as one of the hits...
September 19, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27633772/the-metabolomic-signature-of-leber-s-hereditary-optic-neuropathy-reveals-endoplasmic-reticulum-stress
#19
Juan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, Zainab Safiedeen, Delphine Prunier-Mirebeau, Stéphanie Chupin, Cédric Gadras, Lydie Tessier, Naïg Gueguen, Arnaud Chevrollier, Valérie Desquiret-Dumas, Marc Ferré, Céline Bris, Judith Kouassi Nzoughet, Cinzia Bocca, Stéphanie Leruez, Christophe Verny, Dan Miléa, Dominique Bonneau, Guy Lenaers, M Carmen Martinez, Vincent Procaccio, Pascal Reynier
Leber's hereditary optic neuropathy (MIM#535000), the commonest mitochondrial DNA-related disease, is caused by mutations affecting mitochondrial complex I. The clinical expression of the disorder, usually occurring in young adults, is typically characterized by subacute, usually sequential, bilateral visual loss, resulting from the degeneration of retinal ganglion cells. As the precise action of mitochondrial DNA mutations on the overall cell metabolism in Leber's hereditary optic neuropathy is unknown, we investigated the metabolomic profile of the disease...
September 15, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27913411/erratum
#20
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Brain: a Journal of Neurology
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