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Brain: a Journal of Neurology

Marivi Nabong Moen, Roar Fjær, El Hassan Hamdani, Jon K Laerdahl, Robin Johansen Menchini, Magnus Dehli Vigeland, Ying Sheng, Dag Erik Undlien, Bjørnar Hassel, Mustafa A Salih, Heba Y El Khashab, Kaja Kristine Selmer, Farrukh Abbas Chaudhry
Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two affected brothers. At 9 months of age the elder brother developed ataxia and myoclonic jerks. In his second year he lost the ability to walk and talk, and he developed drug-resistant progressive myoclonus epilepsy. The cerebrospinal fluid level of glutamate was decreased while glutamine was increased. His younger brother manifested similar symptoms from 6 months of age...
October 14, 2016: Brain: a Journal of Neurology
Wei Cheng, Edmund T Rolls, Jiang Qiu, Wei Liu, Yanqing Tang, Chu-Chung Huang, XinFa Wang, Jie Zhang, Wei Lin, Lirong Zheng, JunCai Pu, Shih-Jen Tsai, Albert C Yang, Ching-Po Lin, Fei Wang, Peng Xie, Jianfeng Feng
The first brain-wide voxel-level resting state functional connectivity neuroimaging analysis of depression is reported, with 421 patients with major depressive disorder and 488 control subjects. Resting state functional connectivity between different voxels reflects correlations of activity between those voxels and is a fundamental tool in helping to understand the brain regions with altered connectivity and function in depression. One major circuit with altered functional connectivity involved the medial orbitofrontal cortex Brodmann area 13, which is implicated in reward, and which had reduced functional connectivity in depression with memory systems in the parahippocampal gyrus and medial temporal lobe, especially involving the perirhinal cortex Brodmann area 36 and entorhinal cortex Brodmann area 28...
October 14, 2016: Brain: a Journal of Neurology
Julia Neitzel, Marion Ortner, Marleen Haupt, Petra Redel, Timo Grimmer, Igor Yakushev, Alexander Drzezga, Peter Bublak, Christoph Preul, Christian Sorg, Kathrin Finke
Posterior cortical atrophy is dominated by progressive degradation of parieto-occipital grey and white matter, and represents in most cases a variant of Alzheimer's disease. Patients with posterior cortical atrophy are characterized by increasing higher visual and visuo-spatial impairments. In particular, a key symptom of posterior cortical atrophy is simultanagnosia i.e. the inability to perceive multiple visual objects at the same time. Two neuro-cognitive mechanisms have been suggested to underlie simultanagnosia, either reduced visual short-term memory capacity or decreased visual processing speed possibly resulting from white matter impairments over and above damage to cortical brain areas...
October 3, 2016: Brain: a Journal of Neurology
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
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
Yohei Iguchi, Lara Eid, Martin Parent, Geneviève Soucy, Christine Bareil, Yuichi Riku, Kaori Kawai, Shinnosuke Takagi, Mari Yoshida, Masahisa Katsuno, Gen Sobue, Jean-Pierre Julien
Cytoplasmic TDP-43 aggregation is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Here we investigated the role of exosomes in the secretion and propagation of TDP-43 aggregates. TDP-43 was detected in secreted exosomes from Neuro2a cells and primary neurons but not from astrocytes or microglia. Evidence is presented that protein aggregation and autophagy inhibition are factors that promote exosomal secretion of TDP-43. We also report that levels of exosomal TDP-43 full length and C-terminal fragment species are upregulated in human amyotrophic lateral sclerosis brains...
September 27, 2016: Brain: a Journal of Neurology
Wolfgang Wrasidlo, Igor F Tsigelny, Diana L Price, Garima Dutta, Edward Rockenstein, Thomas C Schwarz, Karin Ledolter, Douglas Bonhaus, Amy Paulino, Simona Eleuteri, Åge A Skjevik, Valentina L Kouznetsova, Brian Spencer, Paula Desplats, Tania Gonzalez-Ruelas, Margarita Trejo-Morales, Cassia R Overk, Stefan Winter, Chunni Zhu, Marie-Francoise Chesselet, Dieter Meier, Herbert Moessler, Robert Konrat, Eliezer Masliah
Abnormal accumulation and propagation of the neuronal protein α-synuclein has been hypothesized to underlie the pathogenesis of Parkinson's disease, dementia with Lewy bodies and multiple system atrophy. Here we report a de novo-developed compound (NPT100-18A) that reduces α-synuclein toxicity through a novel mechanism that involves displacing α-synuclein from the membrane. This compound interacts with a domain in the C-terminus of α-synuclein. The E83R mutation reduces the compound interaction with the 80-90 amino acid region of α-synuclein and prevents the effects of NPT100-18A...
September 27, 2016: Brain: a Journal of Neurology
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
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
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
Susanne J van Veluw, Andreas Charidimou, Andre J van der Kouwe, Arne Lauer, Yael D Reijmer, Isabel Costantino, M Edip Gurol, Geert Jan Biessels, Matthew P Frosch, Anand Viswanathan, Steven M Greenberg
Cerebral amyloid angiopathy is a common neuropathological finding in the ageing human brain, associated with cognitive impairment. Neuroimaging markers of severe cerebral amyloid angiopathy are cortical microbleeds and microinfarcts. These parenchymal brain lesions are considered key contributors to cognitive impairment. Therefore, they are important targets for therapeutic strategies and may serve as surrogate neuroimaging markers in clinical trials. We aimed to gain more insight into the pathological basis of magnetic resonance imaging-defined microbleeds and microinfarcts in cerebral amyloid angiopathy, and to explore the pathological burden that remains undetected, by using high and ultra-high resolution ex vivo magnetic resonance imaging, as well as detailed histological sampling...
September 19, 2016: Brain: a Journal of Neurology
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
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
Guillaume Herbet, Sylvie Moritz-Gasser, Morgane Boiseau, Sophie Duvaux, Jérôme Cochereau, Hugues Duffau
Neurological insults that damage the left hemisphere are frequently associated with a variety of language disorders. Of these, lexical retrieval impairments are the most commonly observed, and often constitute the residual but lasting disturbance in patients with good functional outcomes. The current study was specifically designed to understand the anatomical factors that prevent full recovery of lexical retrieval in patients having undergone a neurosurgery for a left diffuse low-grade glioma, with a special focus on white matter disconnection...
September 6, 2016: Brain: a Journal of Neurology
Emma S Reid, Apostolos Papandreou, Suzanne Drury, Christopher Boustred, Wyatt W Yue, Yehani Wedatilake, Clare Beesley, Thomas S Jacques, Glenn Anderson, Lara Abulhoul, Alex Broomfield, Maureen Cleary, Stephanie Grunewald, Sophia M Varadkar, Nick Lench, Shamima Rahman, Paul Gissen, Peter T Clayton, Philippa B Mills
Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiation are common. Next-generation sequencing approaches still have limitations but are already enabling earlier and more efficient diagnoses in these patients. We designed a gene panel targeting 614 genes causing inborn errors of metabolism and tested its diagnostic efficacy in a paediatric cohort of 30 undiagnosed patients presenting with variable neurometabolic phenotypes...
September 6, 2016: Brain: a Journal of Neurology
Lidia M Yshii, Christina M Gebauer, Béatrice Pignolet, Emilie Mauré, Clémence Quériault, Mandy Pierau, Hiromitsu Saito, Noboru Suzuki, Monika Brunner-Weinzierl, Jan Bauer, Roland Liblau
CTLA4 is an inhibitory regulator of immune responses. Therapeutic CTLA4 blockade enhances T cell responses against cancer and provides striking clinical results against advanced melanoma. However, this therapy is associated with immune-related adverse events. Paraneoplastic neurologic disorders are immune-mediated neurological diseases that develop in the setting of malignancy. The target onconeural antigens are expressed physiologically by neurons, and aberrantly by certain tumour cells. These tumour-associated antigens can be presented to T cells, generating an antigen-specific immune response that leads to autoimmunity within the nervous system...
September 6, 2016: Brain: a Journal of Neurology
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
Olivia A Skrobot, Johannes Attems, Margaret Esiri, Tibor Hortobágyi, James W Ironside, Rajesh N Kalaria, Andrew King, George A Lammie, David Mann, James Neal, Yoav Ben-Shlomo, Patrick G Kehoe, Seth Love
There are no generally accepted protocols for post-mortem assessment in cases of suspected vascular cognitive impairment. Neuropathologists from seven UK centres have collaborated in the development of a set of vascular cognitive impairment neuropathology guidelines (VCING), representing a validated consensus approach to the post-mortem assessment and scoring of cerebrovascular disease in relation to vascular cognitive impairment. The development had three stages: (i) agreement on a sampling protocol and scoring criteria, through a series of Delphi method surveys; (ii) determination of inter-rater reliability for each type of pathology in each region sampled (Gwet's AC2 coefficient); and (iii) empirical testing and validation of the criteria, by blinded post-mortem assessment of brain tissue from 113 individuals (55 to 100 years) without significant neurodegenerative disease who had had formal cognitive assessments within 12 months of death...
September 2, 2016: Brain: a Journal of Neurology
Maria Angeliki S Pavlou, Raquel Pinho, Isabel Paiva, Tiago Fleming Outeiro
Parkinson's disease is the second most prevalent neurodegenerative disorder. The main neuropathological hallmarks of the disease are the degeneration of dopaminergic neurons in the substantia nigra pars compacta and the accumulation of protein inclusions known as Lewy bodies. Recently, great attention has been given to the study of genes associated with both familial and sporadic forms of Parkinson's disease. Among them, the α-synuclein gene is believed to play a central role in the disease and is, therefore, one of the most studied genes...
August 31, 2016: Brain: a Journal of Neurology
Benjamin Knier, Paul Schmidt, Lilian Aly, Dorothea Buck, Achim Berthele, Mark Mühlau, Claus Zimmer, Bernhard Hemmer, Thomas Korn
Assessment of inflammatory disease activity during multiple sclerosis is crucial for selecting appropriate disease-modifying therapies. Previous studies suggested that the retinal inner nuclear layer reflects inflammatory disease severity within the central nervous system. In our study, correlations of longitudinal retinal layer changes as measured by retinal optical coherence tomography with ongoing disease activity were evaluated in 108 multiple sclerosis patients without therapy, on first-line therapy, or on second-line therapy...
August 30, 2016: Brain: a Journal of Neurology
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