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Brain: a Journal of Neurology

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https://www.readbyqxmd.com/read/29140481/excessive-burden-of-lysosomal-storage-disorder-gene-variants-in-parkinson-s-disease
#1
Laurie A Robak, Iris E Jansen, Jeroen van Rooij, André G Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua M Shulman
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. We discovered a significant burden of rare, likely damaging lysosomal storage disorder gene variants in association with Parkinson's disease risk...
November 13, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29136111/corrigendum
#2
(no author information available yet)
No abstract text is available yet for this article.
November 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29136091/clinical-presentation-and-prognosis-in-mog-antibody-disease-a-uk-study
#3
Maciej Jurynczyk, Silvia Messina, Mark R Woodhall, Naheed Raza, Rosie Everett, Adriana Roca-Fernandez, George Tackley, Shahd Hamid, Angela Sheard, Gavin Reynolds, Saleel Chandratre, Cheryl Hemingway, Anu Jacob, Angela Vincent, M Isabel Leite, Patrick Waters, Jacqueline Palace
A condition associated with an autoantibody against MOG has been recently recognized as a new inflammatory disease of the central nervous system, but the disease course and disability outcomes are largely unknown. In this study we investigated clinical characteristics of MOG-antibody disease on a large cohort of patients from the UK. We obtained demographic and clinical data on 252 UK patients positive for serum immunoglobulin G1 MOG antibodies as tested by the Autoimmune Neurology Group in Oxford. Disability outcomes and disease course were analysed in more detail in a cohort followed in the Neuromyelitis Optica Oxford Service (n = 75), and this included an incident cohort who were diagnosed at disease onset (n = 44)...
November 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29136088/abcd1-dysfunction-alters-white-matter-microvascular-perfusion
#4
Arne Lauer, Xiao Da, Mikkel Bo Hansen, Gregoire Boulouis, Yangming Ou, Xuezhu Cai, Afonso Liberato Celso Pedrotti, Jayashree Kalpathy-Cramer, Paul Caruso, Douglas L Hayden, Natalia Rost, Kim Mouridsen, Florian S Eichler, Bruce Rosen, Patricia L Musolino
Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative disorder caused by mutations in the ABCD1 gene, which lead to a rapidly progressive cerebral inflammatory demyelination in up to 60% of affected males. Selective brain endothelial dysfunction and increased permeability of the blood-brain barrier suggest that white matter microvascular dysfunction contributes to the conversion to cerebral disease. Applying a vascular model to conventional dynamic susceptibility contrast magnetic resonance perfusion imaging, we demonstrate that lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease...
November 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29126212/hereditary-spastic-paraplegia-type-5-natural-history-biomarkers-and-a-randomized-controlled-trial
#5
Ludger Schöls, Tim W Rattay, Peter Martus, Christoph Meisner, Jonathan Baets, Imma Fischer, Christine Jägle, Matthew J Fraidakis, Andrea Martinuzzi, Jonas Alex Saute, Marina Scarlato, Antonella Antenora, Claudia Stendel, Philip Höflinger, Charles Marques Lourenco, Lisa Abreu, Katrien Smets, Martin Paucar, Tine Deconinck, Dana M Bis, Sarah Wiethoff, Peter Bauer, Alessia Arnoldi, Wilson Marques, Laura Bannach Jardim, Stefan Hauser, Chiara Criscuolo, Alessandro Filla, Stephan Züchner, Maria Teresa Bassi, Thomas Klopstock, Peter De Jonghe, Ingemar Björkhem, Rebecca Schüle
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxysterol-7α-hydroxylase. This enzyme is involved in the degradation of cholesterol into primary bile acids. CYP7B1 deficiency has been shown to lead to accumulation of neurotoxic oxysterols. In this multicentre study, we have performed detailed clinical and biochemical analysis in 34 genetically confirmed SPG5 cases from 28 families, studied dose-dependent neurotoxicity of oxysterols in human cortical neurons and performed a randomized placebo-controlled double blind interventional trial targeting oxysterol accumulation in serum of SPG5 patients...
November 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29112703/reply-defining-a-functional-network-homeostasis-after-stroke-eeg-based-approach-is-complementary-to-functional-mri
#6
Mohit H Adhikari, Gustavo Deco, Maurizio Corbetta
No abstract text is available yet for this article.
November 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29112700/reply-complicated-hereditary-spastic-paraplegia-due-to-atp13a2-mutations-what-s-in-a-name
#7
Rebecca Schüle
No abstract text is available yet for this article.
November 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29112699/complicated-hereditary-spastic-paraplegia-due-to-atp13a2-mutations-what-s-in-a-name
#8
Susanne de Bot, Erik-Jan Kamsteeg, Bart P C van deWarrenburg
No abstract text is available yet for this article.
November 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29112697/defining-a-functional-network-homeostasis-after-stroke-eeg-based-approach-is-complementary-to-functional-mri
#9
Pietro Caliandro, Giuseppe Reale, Fabrizio Vecchio, Chiara Iacovelli, Francesca Miraglia, Gianvito Masi, Paolo Maria Rossini
No abstract text is available yet for this article.
November 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29112719/a-lesion-model-of-envy-and-schadenfreude-legal-deservingness-and-moral-dimensions-as-revealed-by-neurodegeneration
#10
Hernando Santamaría-García, Sandra Baez, Pablo Reyes, José A Santamaría-García, José M Santacruz-Escudero, Diana Matallana, Analía Arévalo, Mariano Sigman, Adolfo M García, Agustín Ibáñez
The study of moral emotions (i.e. Schadenfreude and envy) is critical to understand the ecological complexity of everyday interactions between cognitive, affective, and social cognition processes. Most previous studies in this area have used correlational imaging techniques and framed Schadenfreude and envy as unified and monolithic emotional domains. Here, we profit from a relevant neurodegeneration model to disentangle the brain regions engaged in three dimensions of Schadenfreude and envy: deservingness, morality, and legality...
November 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29096020/elevated-progranulin-contributes-to-synaptic-and-learning-deficit-due-to-loss-of-fragile-x-mental-retardation-protein
#11
Kun Zhang, Yu-Jiao Li, Yanyan Guo, Kai-Yin Zheng, Qi Yang, Le Yang, Xin-Shang Wang, Qian Song, Tao Chen, Min Zhuo, Ming-Gao Zhao
Fragile X syndrome is an inheritable form of intellectual disability caused by loss of fragile X mental retardation protein (FMRP, encoded by the FMR1 gene). Absence of FMRP caused overexpression of progranulin (PGRN, encoded by GRN), a putative tumour necrosis factor receptor ligand. In the present study, we found that progranulin mRNA and protein were upregulated in the medial prefrontal cortex of Fmr1 knock-out mice. In Fmr1 knock-out mice, elevated progranulin caused insufficient dendritic spine pruning and late-phase long-term potentiation in the medial prefrontal cortex of Fmr1 knock-out mice...
October 31, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29088322/preservation-of-hand-movement-representation-in-the-sensorimotor-areas-of-amputees
#12
Mark L C M Bruurmijn, Isabelle P L Pereboom, Mariska J Vansteensel, Mathijs A H Raemaekers, Nick F Ramsey
Denervation due to amputation is known to induce cortical reorganization in the sensorimotor cortex. Although there is evidence that reorganization does not lead to a complete loss of the representation of the phantom limb, it is unclear to what extent detailed, finger-specific activation patterns are preserved in motor cortex, an issue that is also relevant for development of brain-computer interface solutions for paralysed people. We applied machine learning to obtain a quantitative measure for the functional organization within the motor and adjacent cortices in amputees, using high resolution functional MRI and attempted hand gestures...
October 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29087445/the-direct-basal-ganglia-pathway-is-hyperfunctional-in-focal-dystonia
#13
Kristina Simonyan, Hyun Cho, Azadeh Hamzehei Sichani, Estee Rubien-Thomas, Mark Hallett
Focal dystonias are the most common type of isolated dystonia. Although their causative pathophysiology remains unclear, it is thought to involve abnormal functioning of the basal ganglia-thalamo-cortical circuitry. We used high-resolution research tomography with the radioligand 11C-NNC-112 to examine striatal dopamine D1 receptor function in two independent groups of patients, writer's cramp and laryngeal dystonia, compared to healthy controls. We found that availability of dopamine D1 receptors was significantly increased in bilateral putamen by 19...
October 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29077794/sleep-apnoeas-may-represent-a-reversible-risk-factor-for-amyloid-%C3%AE-pathology
#14
Claudio Liguori, Agostino Chiaravalloti, Francesca Izzi, Marzia Nuccetelli, Sergio Bernardini, Orazio Schillaci, Nicola Biagio Mercuri, Fabio Placidi
No abstract text is available yet for this article.
October 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29077793/pink1-signalling-rescues-amyloid-pathology-and-mitochondrial-dysfunction-in-alzheimer-s-disease
#15
Fang Du, Qing Yu, Shijun Yan, Gang Hu, Lih-Fen Lue, Douglas G Walker, Long Wu, Shi Fang Yan, Kim Tieu, Shirley ShiDu Yan
Mitochondrial dysfunction and synaptic damage are early pathological features of the Alzheimer's disease-affected brain. Memory impairment in Alzheimer's disease is a manifestation of brain pathologies such as accumulation of amyloid-β peptide and mitochondrial damage. The underlying pathogenic mechanisms and effective disease-modifying therapies for Alzheimer's disease remain elusive. Here, we demonstrate for the first time that decreased PTEN-induced putative kinase 1 (PINK1) expression is associated with Alzheimer's disease pathology...
October 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053789/voodoo-surgery-the-distinct-challenges-of-functional-neuroimaging-in-clinical-neurology
#16
Trevor T-J Chong
No abstract text is available yet for this article.
October 17, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053786/tau-hyperphosphorylation-induces-oligomeric-insulin-accumulation-and-insulin-resistance-in-neurons
#17
Patricia Rodriguez-Rodriguez, Anna Sandebring-Matton, Paula Merino-Serrais, Cristina Parrado-Fernandez, Alberto Rabano, Bengt Winblad, Jesús Ávila, Isidre Ferrer, Angel Cedazo-Minguez
Insulin signalling deficiencies and insulin resistance have been directly linked to the progression of neurodegenerative disorders like Alzheimer's disease. However, to date little is known about the underlying molecular mechanisms or insulin state and distribution in the brain under pathological conditions. Here, we report that insulin is accumulated and retained as oligomers in hyperphosphorylated tau-bearing neurons in Alzheimer's disease and in several of the most prevalent human tauopathies. The intraneuronal accumulation of insulin is directly dependent on tau hyperphosphorylation, and follows the tauopathy progression...
October 13, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053846/corrigendum
#18
(no author information available yet)
No abstract text is available yet for this article.
October 11, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053794/corrigendum
#19
(no author information available yet)
No abstract text is available yet for this article.
October 11, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053874/tau-pathology-and-neurodegeneration-contribute-to-cognitive-impairment-in-alzheimer-s-disease
#20
Alexandre Bejanin, Daniel R Schonhaut, Renaud La Joie, Joel H Kramer, Suzanne L Baker, Natasha Sosa, Nagehan Ayakta, Averill Cantwell, Mustafa Janabi, Mariella Lauriola, James P O'Neil, Maria L Gorno-Tempini, Zachary A Miller, Howard J Rosen, Bruce L Miller, William J Jagust, Gil D Rabinovici
Neuropathological and in vivo studies have revealed a tight relationship between tau pathology and cognitive impairment across the Alzheimer's disease spectrum. However, tau pathology is also intimately associated with neurodegeneration and amyloid pathology. The aim of the present study was therefore to assess whether grey matter atrophy and amyloid pathology contribute to the relationship between tau pathology, as measured with 18F-AV-1451-PET imaging, and cognitive deficits in Alzheimer's disease. We included 40 amyloid-positive patients meeting criteria for mild cognitive impairment due to Alzheimer's disease (n = 5) or probable Alzheimer's disease dementia (n = 35)...
October 7, 2017: Brain: a Journal of Neurology
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