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Brain: a Journal of Neurology

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https://www.readbyqxmd.com/read/28137727/a-long-awaited-biography-of-w-h-wollaston
#1
Gordon T Plant
No abstract text is available yet for this article.
January 29, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28137726/molecular-analyses-of-neurogenic-defects-in-a-human-pluripotent-stem-cell-model-of-fragile-x-syndrome
#2
Michael J Boland, Kristopher L Nazor, Ha T Tran, Attila Szücs, Candace L Lynch, Ryder Paredes, Flora Tassone, Pietro Paolo Sanna, Randi J Hagerman, Jeanne F Loring
New research suggests that common pathways are altered in many neurodevelopmental disorders including autism spectrum disorder; however, little is known about early molecular events that contribute to the pathology of these diseases. The study of monogenic, neurodevelopmental disorders with a high incidence of autistic behaviours, such as fragile X syndrome, has the potential to identify genes and pathways that are dysregulated in autism spectrum disorder as well as fragile X syndrome. In vitro generation of human disease-relevant cell types provides the ability to investigate aspects of disease that are impossible to study in patients or animal models...
January 29, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28122879/18f-av-1451-positron-emission-tomography-in-alzheimer-s-disease-and-progressive-supranuclear-palsy
#3
Luca Passamonti, Patricia Vázquez Rodríguez, Young T Hong, Kieren S J Allinson, David Williamson, Robin J Borchert, Saber Sami, Thomas E Cope, W Richard Bevan-Jones, P Simon Jones, Robert Arnold, Ajenthan Surendranathan, Elijah Mak, Li Su, Tim D Fryer, Franklin I Aigbirhio, John T O'Brien, James B Rowe
The ability to assess the distribution and extent of tau pathology in Alzheimer's disease and progressive supranuclear palsy in vivo would help to develop biomarkers for these tauopathies and clinical trials of disease-modifying therapies. New radioligands for positron emission tomography have generated considerable interest, and controversy, in their potential as tau biomarkers. We assessed the radiotracer (18)F-AV-1451 with positron emission tomography imaging to compare the distribution and intensity of tau pathology in 15 patients with Alzheimer's pathology (including amyloid-positive mild cognitive impairment), 19 patients with progressive supranuclear palsy, and 13 age- and sex-matched controls...
January 24, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28122878/split-brain-divided-perception-but-undivided-consciousness
#4
Yair Pinto, David A Neville, Marte Otten, Paul M Corballis, Victor A F Lamme, Edward H F de Haan, Nicoletta Foschi, Mara Fabri
In extensive studies with two split-brain patients we replicate the standard finding that stimuli cannot be compared across visual half-fields, indicating that each hemisphere processes information independently of the other. Yet, crucially, we show that the canonical textbook findings that a split-brain patient can only respond to stimuli in the left visual half-field with the left hand, and to stimuli in the right visual half-field with the right hand and verbally, are not universally true. Across a wide variety of tasks, split-brain patients with a complete and radiologically confirmed transection of the corpus callosum showed full awareness of presence, and well above chance-level recognition of location, orientation and identity of stimuli throughout the entire visual field, irrespective of response type (left hand, right hand, or verbally)...
January 24, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28122877/an-early-and-late-peak-in-microglial-activation-in-alzheimer-s-disease-trajectory
#5
Zhen Fan, David J Brooks, Aren Okello, Paul Edison
Amyloid-β deposition, neuroinflammation and tau tangle formation all play a significant role in Alzheimer's disease. We hypothesized that there is microglial activation early on in Alzheimer's disease trajectory, where in the initial phase, microglia may be trying to repair the damage, while later on in the disease these microglia could be ineffective and produce proinflammatory cytokines leading to progressive neuronal damage. In this longitudinal study, we have evaluated the temporal profile of microglial activation and its relationship between fibrillar amyloid load at baseline and follow-up in subjects with mild cognitive impairment, and this was compared with subjects with Alzheimer's disease...
January 24, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28115364/synaptic-inputs-from-stroke-injured-brain-to-grafted-human-stem-cell-derived-neurons-activated-by-sensory-stimuli
#6
Daniel Tornero, Oleg Tsupykov, Marcus Granmo, Cristina Rodriguez, Marita Grønning-Hansen, Jonas Thelin, Ekaterina Smozhanik, Cecilia Laterza, Somsak Wattananit, Ruimin Ge, Jemal Tatarishvili, Shane Grealish, Oliver Brüstle, Galina Skibo, Malin Parmar, Jens Schouenborg, Olle Lindvall, Zaal Kokaia
Transplanted neurons derived from stem cells have been proposed to improve function in animal models of human disease by various mechanisms such as neuronal replacement. However, whether the grafted neurons receive functional synaptic inputs from the recipient's brain and integrate into host neural circuitry is unknown. Here we studied the synaptic inputs from the host brain to grafted cortical neurons derived from human induced pluripotent stem cells after transplantation into stroke-injured rat cerebral cortex...
January 22, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28100454/gene-therapy-targeting-oligodendrocytes-provides-therapeutic-benefit-in-a-leukodystrophy-model
#7
Elena Georgiou, Kyriaki Sidiropoulou, Jan Richter, Christos Papaneophytou, Irene Sargiannidou, Alexia Kagiava, Georg von Jonquieres, Christina Christodoulou, Matthias Klugmann, Kleopas A Kleopa
Pelizaeus-Merzbacher-like disease or hypomyelinating leukodystrophy-2 is an autosomal recessively inherited leukodystrophy with childhood onset resulting from mutations in the gene encoding the gap junction protein connexin 47 (Cx47, encoded by GJC2). Cx47 is expressed specifically in oligodendrocytes and is crucial for gap junctional communication throughout the central nervous system. Previous studies confirmed that a cell autonomous loss-of-function mechanism underlies hypomyelinating leukodystrophy-2 and that transgenic oligodendrocyte-specific expression of another connexin, Cx32 (GJB1), can restore gap junctions in oligodendrocytes to achieve correction of the pathology in a disease model...
January 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28087578/distinct-binding-of-pet-ligands-pbb3-and-av-1451-to-tau-fibril-strains-in-neurodegenerative-tauopathies
#8
Maiko Ono, Naruhiko Sahara, Katsushi Kumata, Bin Ji, Ruiqing Ni, Shunsuke Koga, Dennis W Dickson, John Q Trojanowski, Virginia M-Y Lee, Mari Yoshida, Isao Hozumi, Yasumasa Yoshiyama, John C van Swieten, Agneta Nordberg, Tetsuya Suhara, Ming-Rong Zhang, Makoto Higuchi
Diverse neurodegenerative disorders are characterized by deposition of tau fibrils composed of conformers (i.e. strains) unique to each illness. The development of tau imaging agents has enabled visualization of tau lesions in tauopathy patients, but the modes of their binding to different tau strains remain elusive. Here we compared binding of tau positron emission tomography ligands, PBB3 and AV-1451, by fluorescence, autoradiography and homogenate binding assays with homologous and heterologous blockades using tauopathy brain samples...
January 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28082299/neuromodulation-interventions-for-addictive-disorders-challenges-promise-and-roadmap-for-future-research
#9
REVIEW
Primavera A Spagnolo, David Goldman
Addictive disorders are a major public health concern, associated with high relapse rates, significant disability and substantial mortality. Unfortunately, current interventions are only modestly effective. Preclinical studies as well as human neuroimaging studies have provided strong evidence that the observable behaviours that characterize the addiction phenotype, such as compulsive drug consumption, impaired self-control, and behavioural inflexibility, reflect underlying dysregulation and malfunction in specific neural circuits...
January 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28082297/varied-effects-of-age-related-neuropathologies-on-the-trajectory-of-late-life-cognitive-decline
#10
Patricia A Boyle, Jingyun Yang, Lei Yu, Sue E Leurgans, Ana W Capuano, Julie A Schneider, Robert S Wilson, David A Bennett
The objective of this study was to examine whether the effects of age-related neuropathologies on cognition change over time. Participants were 1096 deceased persons from two clinical-pathologic studies. All were without dementia at baseline, completed a detailed battery of cognitive tests annually over up to 21 years, died, and underwent detailed neuropathologic examinations to identify Alzheimer's disease pathology, vascular pathologies (i.e. macro- and microscopic infarcts, atherosclerosis, arteriolar sclerosis, and cerebral amyloid angiopathy), Lewy bodies, transactive response DNA-binding protein 43 (TDP-43) pathology, and hippocampal sclerosis...
January 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28077398/mild-traumatic-brain-injury-is-associated-with-reduced-cortical-thickness-in-those-at-risk-for-alzheimer-s-disease
#11
Jasmeet P Hayes, Mark W Logue, Naomi Sadeh, Jeffrey M Spielberg, Mieke Verfaellie, Scott M Hayes, Andrew Reagan, David H Salat, Erika J Wolf, Regina E McGlinchey, William P Milberg, Annjanette Stone, Steven A Schichman, Mark W Miller
Moderate-to-severe traumatic brain injury is one of the strongest environmental risk factors for the development of neurodegenerative diseases such as late-onset Alzheimer's disease, although it is unclear whether mild traumatic brain injury, or concussion, also confers risk. This study examined mild traumatic brain injury and genetic risk as predictors of reduced cortical thickness in brain regions previously associated with early Alzheimer's disease, and their relationship with episodic memory. Participants were 160 Iraq and Afghanistan War veterans between the ages of 19 and 58, many of whom carried mild traumatic brain injury and post-traumatic stress disorder diagnoses...
January 11, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28077397/relationships-between-flortaucipir-pet-tau-binding-and-amyloid-burden-clinical-diagnosis-age-and-cognition
#12
Michael J Pontecorvo, Michael D Devous, Michael Navitsky, Ming Lu, Stephen Salloway, Frederick W Schaerf, Danna Jennings, Anupa K Arora, Anne McGeehan, Nathaniel C Lim, Hui Xiong, Abhinay D Joshi, Andrew Siderowf, Mark A Mintun
The advent of tau-targeted positron emission tomography tracers such as flortaucipir ((18)F-AV-1451, also known as (18)F-T807) have made it possible to investigate the sequence of development of tau and amyloid-β in relationship to age, and to the development of cognitive impairment due to Alzheimer's disease. In this study, flortaucipir tau and florbetapir amyloid positron emission tomography were obtained for 217 subjects including 16 young and 58 older cognitively normal subjects, 95 subjects with mild cognitive impairment (Mini-Mental State Examination 24-30) and 48 subjects with clinically-defined possible or probable Alzheimer's disease (Mini-Mental State Examination >10)...
January 11, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28073790/clemizole-and-modulators-of-serotonin-signalling-suppress-seizures-in-dravet-syndrome
#13
Aliesha Griffin, Kyla R Hamling, Kelly Knupp, SoonGweon Hong, Luke P Lee, Scott C Baraban
Dravet syndrome is a catastrophic childhood epilepsy with early-onset seizures, delayed language and motor development, sleep disturbances, anxiety-like behaviour, severe cognitive deficit and an increased risk of fatality. It is primarily caused by de novo mutations of the SCN1A gene encoding a neuronal voltage-activated sodium channel. Zebrafish with a mutation in the SCN1A homologue recapitulate spontaneous seizure activity and mimic the convulsive behavioural movements observed in Dravet syndrome. Here, we show that phenotypic screening of drug libraries in zebrafish scn1 mutants rapidly and successfully identifies new therapeutics...
January 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28073789/dynamics-of-convulsive-seizure-termination-and-postictal-generalized-eeg-suppression
#14
Prisca R Bauer, Roland D Thijs, Robert J Lamberts, Demetrios N Velis, Gerhard H Visser, Else A Tolner, Josemir W Sander, Fernando H Lopes da Silva, Stiliyan N Kalitzin
It is not fully understood how seizures terminate and why some seizures are followed by a period of complete brain activity suppression, postictal generalized EEG suppression. This is clinically relevant as there is a potential association between postictal generalized EEG suppression, cardiorespiratory arrest and sudden death following a seizure. We combined human encephalographic seizure data with data of a computational model of seizures to elucidate the neuronal network dynamics underlying seizure termination and the postictal generalized EEG suppression state...
January 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28073788/dopamine-controls-parkinson-s-tremor-by-inhibiting-the-cerebellar-thalamus
#15
Michiel F Dirkx, Hanneke E M den Ouden, Esther Aarts, Monique H M Timmer, Bastiaan R Bloem, Ivan Toni, Rick C Helmich
Parkinson's resting tremor is related to altered cerebral activity in the basal ganglia and the cerebello-thalamo-cortical circuit. Although Parkinson's disease is characterized by dopamine depletion in the basal ganglia, the dopaminergic basis of resting tremor remains unclear: dopaminergic medication reduces tremor in some patients, but many patients have a dopamine-resistant tremor. Using pharmacological functional magnetic resonance imaging, we test how a dopaminergic intervention influences the cerebral circuit involved in Parkinson's tremor...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28073787/col6a5-variants-in-familial-neuropathic-chronic-itch
#16
Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra, Rayaz A Malik, Marco Ritelli, Nicoletta Zoppi, Chiara Dordoni, Melissa Sorosina, Paola Grammatico, Hassan Fadavi, Monique M Gerrits, Rowida Almomani, Catharina G Faber, Ingemar S J Merkies, Daniela Toniolo, Massimiliano Cocca, Claudio Doglioni, Stephen G Waxman, Sulayman D Dib-Hajj, Michela M Taiana, Jenny Sassone, Raffaella Lombardi, Daniele Cazzato, Andrea Zauli, Silvia Santoro, Margherita Marchi, Giuseppe Lauria
Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28052917/a-mutation-of-ept1-selenoi-underlies-a-new-disorder-of-kennedy-pathway-phospholipid-biosynthesis
#17
Mustafa Y Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, Amna Al-Futaisi, Barry A Chioza, J Pedro Fernandez-Murray, Jay E Self, Claire G Salter, Gaurav V Harlalka, Lettie E Rawlins, Sana Al-Zuhaibi, Faisal Al-Azri, Fatma Al-Rashdi, Amaury Cazenave-Gassiot, Markus R Wenk, Fatema Al-Salmi, Michael A Patton, David L Silver, Emma L Baple, Christopher R McMaster, Andrew H Crosby
Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis. Here, we report an unusual autosomal recessive neurodegenerative condition, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation in the ethanolaminephosphotransferase 1 (EPT1) gene (now known as SELENOI), responsible for the final step in Kennedy pathway forming phosphatidylethanolamine from CDP-ethanolamine...
January 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28043956/factors-predicting-response-to-the-first-epidural-blood-patch-in-spontaneous-intracranial-hypotension
#18
Jr-Wei Wu, Shu-Shya Hseu, Jong-Ling Fuh, Jiing-Feng Lirng, Yen-Feng Wang, Wei-Ta Chen, Shih-Pin Chen, Shuu-Jiun Wang
Spontaneous intracranial hypotension results from cerebrospinal fluid leakage. Currently, the treatment of choice for spontaneous intracranial hypotension is the epidural blood patch, which has a variable response rate and no clear outcome predictors. This study aimed to identify predictors for response rate of a first targeted epidural blood patch in patients with spontaneous intracranial hypotension. We reviewed cases of patients with spontaneous intracranial hypotension who received targeted epidural blood patch at our hospital between 1 January 2007 and 1 July 2014...
January 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28043955/structural-cerebellar-correlates-of-cognitive-and-motor-dysfunctions-in-cerebellar-degeneration
#19
Kalyani Kansal, Zhen Yang, Ann M Fishman, Haris I Sair, Sarah H Ying, Bruno M Jedynak, Jerry L Prince, Chiadi U Onyike
Detailed mapping of clinical dysfunctions to the cerebellar lobules in disease populations is necessary to establish the functional significance of lobules implicated in cognitive and motor functions in normal subjects. This study constitutes the first quantitative examination of the lobular correlates of a broad range of cognitive and motor phenomena in cerebellar disease. We analysed cross-sectional data from 72 cases with cerebellar disease and 36 controls without cerebellar disease. Cerebellar lobule volumes were derived from a graph-cut based segmentation algorithm...
January 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28040669/perfusion-computed-tomography-in-patients-with-stroke-thrombolysis
#20
Hiroyuki Kawano, Andrew Bivard, Longting Lin, Henry Ma, Xin Cheng, Richard Aviv, Billy O'Brien, Kenneth Butcher, Min Lou, Jingfen Zhang, Jim Jannes, Qiang Dong, Christopher R Levi, Mark W Parsons
Stroke shortens an individual's disability-free life. We aimed to assess the relative prognostic influence of pre- and post-treatment perfusion computed tomography imaging variables (e.g. ischaemic core and penumbral volumes) compared to standard clinical predictors (such as onset-to-treatment time) on long-term stroke disability in patients undergoing thrombolysis. We used data from a prospectively collected international, multicentre, observational registry of acute ischaemic stroke patients who had perfusion computed tomography and computed tomography angiography before treatment with intravenous alteplase...
December 31, 2016: Brain: a Journal of Neurology
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