352,639 results match your criteria Neuroscience Letters [Journal]


Primary cultured neuronal networks and type 2 diabetes model mouse fatty liver tissues in aqueous liquid observed by atmospheric SEM (ASEM): Staining preferences of metal solutions.

Micron 2018 Nov 23;118:9-21. Epub 2018 Nov 23.

Biomedical Research Institute, National Institute of Industrial Science and Technology (AIST), Higashi 1-1-1, Tsukuba, Ibaraki, 305-8566, Japan. Electronic address:

Neural networking, including axon targeting and synapse formation, is the basis of various brain functions, including memory and learning. Diabetes-mellitus affects peripheral nerves and is known to cause fatty liver disease. Electron microscopy (EM) provides the resolution required to observe changes in fine subcellular structures caused by such physiological and pathological processes, but samples are observed in vacuum. Read More

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November 2018

Acid sphingomyelinase: No potential as a biomarker for multiple sclerosis.

Mult Scler Relat Disord 2018 Nov 30;28:44-49. Epub 2018 Nov 30.

Department of Molecular Cell biology and Immunology, MS Center Amsterdam, Amsterdam Neuroscience, Amsterdam UMC - location VUmc, Amsterdam, The Netherlands.

Background: Multiple sclerosis (MS) lacks reliable biomarkers that reflect disease activity. Recent evidence suggests that an altered sphingolipid metabolism is associated with MS pathogenesis.

Objective: To explore acid sphingomyelinase (ASM) activity and altered sphingolipid metabolism as potential biomarkers in serum of MS patients, to predict active and progressive disease, and response to disease modifying therapy (DMT). Read More

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November 2018

Disrupted structural and functional brain networks in Alzheimer's disease.

Neurobiol Aging 2018 Nov 16;75:71-82. Epub 2018 Nov 16.

Dementia Care & Research Center, Peking University Institute of Mental Health (Sixth Hospital), Beijing, China; Beijing Key Laboratory for Translational Research on Diagnosis and Treatment of Dementia, Beijing, China; National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing, China. Electronic address:

Studies have demonstrated that the clinical manifestations of Alzheimer's disease (AD) are associated with abnormal connections in either functional connectivity networks (FCNs) or structural connectivity networks (SCNs). However, the FCN and SCN of AD have usually been examined separately, and the results were inconsistent. In this multimodal study, we collected resting-state functional magnetic resonance imaging and diffusion magnetic resonance imaging data from 46 patients with AD and 39 matched healthy controls (HCs). Read More

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November 2018
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Interaction of hormonal and social environments in understanding body image concerns in adolescent girls.

J Psychiatr Res 2018 Dec 7;109:178-184. Epub 2018 Dec 7.

Department of Psychology, Michigan State University, 316 Physics Rd #262, East Lansing, MI, 48824, USA.

During adolescence, peer approval becomes increasingly important and may be perceived as contingent upon appearance in girls. Concurrently, girls experience hormonal changes, including an increase in progesterone. Progesterone has been implicated in affiliative behavior but inconsistently associated with body image concerns. Read More

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December 2018

Harmonization of pipeline for preclinical multicenter plasma protein and miRNA biomarker discovery in a rat model of post-traumatic epileptogenesis.

Epilepsy Res 2018 Nov 26;149:92-101. Epub 2018 Nov 26.

A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.

The Epilepsy Bioinformatics Study for Antiepileptogenic Therapy (EpiBioS4Rx) is an international, multicenter, multidisciplinary study aimed at preventing epileptogenesis (EpiBioS4Rx: https://epibios.loni.usc. Read More

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November 2018
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Bundle payment model in spine surgery: Current challenges and opportunities, a systematic review.

World Neurosurg 2018 Dec 12. Epub 2018 Dec 12.

Department of Neurosurgery, University of Louisville, 200 Abraham Flexner Hwy, Louisville, KY, U.S.A- 40202. Electronic address:

Introduction: Bundled payments offer a lump sum for management of particular conditions over a specified time period that has the potential to reduce healthcare payments. Additionally, bundled payments represent a shift toward patient-centered reimbursement that has the upside of improved care coordination among providers and may lead to improved outcomes.

Aim: To review the challenges and sources of payment variation and opportunities for restructuring bundled payments plans in context of spine surgery. Read More

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December 2018
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A generative model of realistic brain cells with application to numerical simulation of the diffusion-weighted MR signal.

Neuroimage 2018 Dec 12. Epub 2018 Dec 12.

Centre for Medical Image Computing and Dept of Computer Science, University College London, London, UK.

To date, numerical simulations of the brain tissue have been limited by their lack of realism and flexibility. The purpose of this work is to propose a controlled and flexible generative model for brain cell morphology and an efficient computational pipeline for the reliable and robust simulation of realistic cellular structures with application to numerical simulation of intra-cellular diffusion-weighted MR (DW-MR) signal features. Inspired by the advances in computational neuroscience for modelling brain cells, we propose a generative model that enables users to simulate molecular diffusion within realistic digital brain cells, such as neurons, in a completely controlled and flexible fashion. Read More

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December 2018

Physical exercise enhances adult cortical plasticity in a neonatal rat model of hypoxic-ischemic injury: Evidence from BOLD-fMRI and electrophysiological recordings.

Neuroimage 2018 Dec 12. Epub 2018 Dec 12.

Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, 06351, South Korea; Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, South Korea; Center for Neuroscience Imaging Research, Institute for Basic Science (IBS), Suwon, South Korea; Animal Research and Molecular Imaging, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, 06351, South Korea; Department of Global Biomedical Engineering, Sungkyunkwan University, Suwon, Republic of Korea. Electronic address:

Neuroplasticity is considered essential for recovery from brain injury in developing brains. Recent studies indicate that it is especially effective during early postnatal development and during the critical period. The current study used functional magnetic resonance imaging (fMRI) and local field potential (LFP) electrophysiological recordings in rats that experienced neonatal hypoxic-ischemic (HI) injury during the critical period to demonstrate that physical exercise (PE) can improve cortical plasticity even when performed during adulthood, after the critical period. Read More

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December 2018

Alpha-synuclein is highly prone to distribution in the hippocampus and midbrain in tree shrews, and its fibrils seed Lewy body-like pathology in primary neurons.

Exp Gerontol 2018 Dec 12. Epub 2018 Dec 12.

Institute of Medical Biology, Chinese Academy of Medical Sciences, Kunming 650118, China; Medical Primate Research Center & Neuroscience Center, Chinese Academy of Medical Sciences, Beijing 100005, China; Yunnan Key Laboratory of Vaccine Research Development on Severe Infectious Diseases, Kunming 650118, China. Electronic address:

The Chinese tree shrew (TS) has many unique advantages that make it suitable for use as an experimental animal model for human disease including moderate body size, low cost of feeding, short reproductive cycle and lifespan, and close phylogenetic relationship to primates. Our previous studies have shown that TS treated with the mitochondrial inhibitor MPTP displayed classic Parkinsonian symptoms. Additionally, the structure of TS alpha-synuclein (α-syn) is highly homologous to that found in humans. Read More

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December 2018

Transcranial direct current stimulation (tDCS) over parietal cortex improves associative memory.

Neurobiol Learn Mem 2018 Dec 12. Epub 2018 Dec 12.

Department of Neuroscience, Institute for Medical Research, University of Belgrade, Serbia.

Associative memory plays a key role in everyday functioning, but it declines with normal aging as well as due to various pathological states and conditions, thus impairing quality of life. Associative memory enhancement via neurostimulation over frontal areas resulted in limited success, while posterior stimulation sites seemed to be more promising. We hypothesized that anodal transcranial direct current stimulation (tDCS) of parietal areas would lead to higher performance in associative memory due to high connectivity between posterior parietal cortex (PPC) and hippocampus. Read More

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December 2018

Sensorimotor plasticity in response to predictable visual stimuli could correct the signs of spatial neglect.

Ann Phys Rehabil Med 2018 Dec 12. Epub 2018 Dec 12.

Neuroscience Department, Laboratory for Behavioral Neurology and Imaging of Cognition, University of Geneva, Geneva, Switzerland; Neurology Department, University Hospital of Geneva, Geneva, Switzerland.

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December 2018

Integrational analysis of miRNAs data sets as a plausible missing linker between Epstein-Barr virus and vitamin D in relapsing remitting MS patients.

Gene 2018 Dec 12. Epub 2018 Dec 12.

Department of Virology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Given the multifactorial state of autoimmune complex diseases such as multiple sclerosis (MS), it is not clear if different risk factors act jointly or independently. Despite intensive studies investigating multi aspects of MS risk factors, findings with regards to potential biomarkers that may link these risk factors remained largely inconclusive. System biology or data integration utilizes different validated datasets to extract meaningful information and map the plausible biological pathways and networks. Read More

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December 2018

Effects of sex and menstrual cycle phase on cardiac response and alpha- amylase levels in psychosocial stress.

Biol Psychol 2018 Dec 12. Epub 2018 Dec 12.

Laboratory of Social Cognitive Neuroscience, IDOCAL, Department of Psychobiology, University of Valencia, 46010 Valencia, Spain.

The impact of sex and the menstrual cycle phase on the autonomic response to psychosocial stress remains controversial. This study explored autonomic nervous system activity through salivary alpha-amylase, heart rate, and heart rate variability responses to the Trier Social Stress Test (TSST) in healthy young people. The sample was composed of 25 men, 26 women in the luteal phase, and 25 women in the follicular phase, from 18 to 25 years of age. Read More

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December 2018

A Potential Mechanistic Role for Neuroinflammation in Reward Processing Impairments in Autism Spectrum Disorder.

Biol Psychol 2018 Dec 12. Epub 2018 Dec 12.

Department of Psychology and Neuroscience, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA; Department of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27514, USA; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27514, USA. Electronic address:

Accumulating evidence suggests that autism spectrum disorder (ASD) may be conceptualized within a framework of reward processing impairments. The "Social Motivation Theory of Autism" posits that reduced motivation to interact with people and decreased pleasure derived from social interactions may derail typical social development and contribute to the emergence of core social communication deficits in ASD. Neuroinflammation may disrupt the development of mesolimbic dopaminergic systems that are critical for optimal functioning of social reward processing systems. Read More

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December 2018

Altered α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor function and expression in hippocampus in a rat model of attention-deficit/hyperactivity disorder (ADHD).

Behav Brain Res 2018 Dec 12. Epub 2018 Dec 12.

The Brain and Muscle Energy Group, Electron Microscopy Laboratory, Department of Oral Biology, University of Oslo, NO-0316, Oslo, Norway; Synaptic Neurochemistry and Amino Acid Transporters Labs, Division of Anatomy, Department of Molecular Medicine, Institute of Basic Medical Sciences (IMB) and Healthy Brain Ageing Centre (SERTA), University of Oslo, NO-0317, Oslo, Norway; Center for Healthy Aging, Department of Neuroscience and Pharmacology, Faculty of Health Sciences, University of Copenhagen, DK-2200 Copenhagen N, Denmark.

Glutamatergic α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs) carry the bulk of excitatory synaptic transmission. Their modulation plays key roles in synaptic plasticity, which underlies hippocampal learning and memory. A dysfunctional glutamatergic system may negatively affect learning abilities and underlie symptoms of attention-deficit/hyperactivity disorder (ADHD). Read More

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December 2018

Localization of Contextual and Context Removed Auditory Fear Memory within the Basolateral Amygdala Complex.

Neuroscience 2018 Dec 12. Epub 2018 Dec 12.

School of Psychology and Counselling, Queensland University of Technology, Brisbane, Australia; Institute of Health and Biomedical Innovation, Queensland University of Technology at Translational Research Institute, Brisbane, Australia; Center for the Study of Traumatic Stress, Department of Psychiatry, USU School of Medicine, Bethesda, MD, USA. Electronic address:

Debilitating and persistent fear memories can rapidly form in humans following exposure to traumatic events. Fear memories can also be generated and studied in animals via Pavlovian fear conditioning. The current study was designed to evaluate basolateral amygdala complex involvement following the formation of different fear memories (two contextual fear memories and one adjusted auditory fear memory). Read More

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December 2018

Machine learning for predicting psychotic relapse at 2 years in schizophrenia in the national FACE-SZ cohort.

Prog Neuropsychopharmacol Biol Psychiatry 2018 Dec 12. Epub 2018 Dec 12.

Fondation FondaMental, Créteil, France; Faculté de Médecine, Université d'Auvergne, CMP B, CHU, EA 7280, Clermont-Ferrand Cedex 69 63003, France.

Background: Predicting psychotic relapse is one of the major challenges in the daily care of schizophrenia.

Objectives: To determine the predictors of psychotic relapse and follow-up withdrawal in a non-selected national sample of stabilized community-dwelling SZ subjects with a machine learning approach.

Methods: Participants were consecutively included in the network of the FondaMental Expert Centers for Schizophrenia and received a thorough clinical and cognitive assessment, including recording of current treatment. Read More

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December 2018
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The neural correlates of discrete gait characteristics in ageing: A Structured Review.

Neurosci Biobehav Rev 2018 Dec 12. Epub 2018 Dec 12.

Institute of Neuroscience, Newcastle University Institute of Ageing, Newcastle Upon Tyne, UK; Newcastle Upon Tyne Hospital NHS Foundation Trust, UK. Electronic address:

Gait is complex, described by diverse characteristics underpinned by widespread central nervous system networks including motor and cognitive functions. Despite this, neural substrates of discrete gait characteristics are poorly understood, limiting understanding of gait impairment in ageing and disease. This structured review aims to map gait characteristics, defined from a pre-specified model reflecting independent gait domains, to brain imaging parameters in older adults. Read More

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December 2018
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Pathophysiological Mechanisms Implicated in Postpartum Depression.

Front Neuroendocrinol 2018 Dec 12. Epub 2018 Dec 12.

Department of Neuroscience, Tufts University School of Medicine, Boston, MA, 02111, USA. Electronic address:

This review aims to summarize the diverse proposed pathophysiological mechanisms contributing to postpartum depression, highlighting both clinical and basic science research findings. The risk factors for developing postpartum depression are discussed, which may provide insight into potential neurobiological underpinnings. The evidence supporting a role for neuroendocrine changes, neuroinflammation, neurotransmitter alterations, circuit dysfunction, and the involvement of genetics and epigenetics in the pathophysiology of postpartum depression are discussed. Read More

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December 2018

The influence of the OPRM1 (A118G) polymorphism on behavioral and neural correlates of aggression in healthy males.

Neuropharmacology 2018 Dec 12. Epub 2018 Dec 12.

Department of Psychiatry, Psychotherapy and Psychosomatics, Faculty of Medicine, RWTH Aachen University, 52074, Aachen, Germany; JARA Institute Brain Structure Function Relationship Institute for Neuroscience and Medicine (INM 10), Forschungszentrum Jülich, 52425 Jülich, Germany.

Current models of aggression suggest that in addition to personality traits and environmental factors, biological vulnerability associated with genetics substantially impacts aggressive behavior. In a functional imaging study, we investigated the influence of the single nucleotide polymorphism of the mu 1 subtype opioid receptor gene (OPRM1), implicated in sociability, on correlates of trait and state aggression to delineate the function of these influences in aggression. A key aim was further to differentiate different aspects of aggressive reactions - namely, the reaction to provocation and the decision to punish an opponent. Read More

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December 2018

Analgesic and anti-edemic properties of etifoxine in models of inflammatory sensitization.

Eur J Pharmacol 2018 Dec 12. Epub 2018 Dec 12.

Centre National de la Recherche Scientifique and University of Strasbourg, Institut des Neurosciences Cellulaires et Intégratives, 67000 Strasbourg, France. Electronic address:

Inflammatory processes are critical promoting factors of chronic pain states, mostly by inducing peripheral and central sensitization of the nociceptive system. These processes are associated with a massive increase in glutamatergic transmission, sometimes facilitated by spinal disinhibition. In this study, we used etifoxine, a non-benzodiazepine anxiolytic known to amplify inhibition mediated by gamma-aminobutyric acid type A (GABA) receptors in pain processing regions, either directly (through allosteric modulation) or indirectly (through the synthesis of endogenous neurosteroids). Read More

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December 2018
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Molecular Mechanisms of Glutaredoxin Enzymes: Versatile Hubs for Thiol-Disulfide Exchange between Protein Thiols and Glutathione.

J Mol Biol 2018 Dec 12. Epub 2018 Dec 12.

School of Chemistry and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3010, Australia.

The tripeptide glutathione (GSH) and its oxidized form glutathione disulfide (GSSG) constitute a key redox couple in cells. In particular, they partner protein thiols in reversible thiol-disulfide exchange reactions that act as switches in cell signaling and redox homeostasis. Disruption of these processes may impair cellular redox signal transduction and induce redox misbalances that are linked directly to aging processes and to a range of pathological conditions including cancer, cardiovascular diseases and neurological disorders. Read More

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December 2018

Tumor Necrosis Factor Related Apoptosis Inducing Ligand reduces the expression of the neuroprotective Na /Ca exchanger isoform NCX3 in human neuroblastoma SH-SY5Y cells.

FEBS J 2018 Dec 15. Epub 2018 Dec 15.

Department of Biomedical and Biotechnological Sciences, Section of Pharmacology, University of Catania School of Medicine, Catania, Italy.

Tumor Necrosis Factor Related Apoptosis Inducing Ligand (TRAIL), a cytokine belonging to the TNF superfamily, is regarded as a mediator of neurotoxicity. The constitutively expressed ion exchanger NCX3 has been shown to protect neurons from injury. Its expression is induced by Nerve growth factor (NGF) through activation of its tyrosine kinase receptor trkA. Read More

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December 2018

Interneuron NMDA receptors change the gear of motor learning in the cerebellar machine.

J Physiol 2018 Dec 15. Epub 2018 Dec 15.

Program in Neurosciences and Mental Health, SickKids Research Institute, Toronto, Ontario, M5G 1×8, Canada.

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December 2018

Blood pressure reactivity at onset of mental stress determines sympathetic vascular response in young adults.

Physiol Rep 2018 Dec;6(24):e13944

School of Medicine, Western Sydney University, Sydney, New South Wales, Australia.

We have previously shown in young males that the rate of rise in blood pressure (BP) at the onset of mental stress determines whether or not muscle sympathetic nerve activity (MSNA) has a role in driving the pressor response. The aim of this study was to investigate these interactions in young females. BP and MSNA were recorded continuously in 19 females and 21 males during 2-min mental stressors (mental arithmetic and Stroop test). Read More

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December 2018

Maternal and offspring MTHFR genotypes interact in a mouse model to induce ASD-like behavior.

Genes Brain Behav 2018 Dec 15:e12547. Epub 2018 Dec 15.

Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Individuals with autism constitute a variable population whose members are spread along the autism spectrum. Sub-populations within that spectrum exhibit other conditions, such as anxiety, intellectual disabilities, hyperactivity and epilepsy, with different severities and co-occurrences. Among the genes associated with the increased risk for autism is the methylenetetrahydrofolate-reductase (MTHFR) 677C>T polymorphism, which impairs one-carbon metabolic pathway efficiency. Read More

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December 2018

Cortical interlaminar astrocytes across the therian mammal radiation.

J Comp Neurol 2018 Dec 14. Epub 2018 Dec 14.

Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, CA.

Interlaminar astrocytes (ILA) in the cerebral cortex possess a soma in layer I and extend an interlaminar process that runs perpendicular to the pia into deeper cortical layers. We examined cerebral cortex from 46 species that encompassed most orders of therian mammalians, including 22 primate species. We described two distinct cell types with interlaminar processes that have been referred to as ILA, that we termed pial ILA and supial ILA. Read More

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December 2018
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Concentration, sources and human health risk of heavy metals and polycyclic aromatic hydrocarbons bound PM ambient air, Tehran, Iran.

Environ Geochem Health 2018 Dec 14. Epub 2018 Dec 14.

Student Research Committee, Department of Environmental Health Engineering, School of Public Health and Safety, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

The exposure to heavy metals and polycyclic aromatic hydrocarbons (PAHs) bound to particulate matter 2.5 (PM) ambient air can result in some adverse health effect. In the current study, PM ambient air of Tehran metropolitan, Iran, was characterized by the aid of scanning electron microscope and energy-dispersive X-ray techniques. Read More

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December 2018

Sex differences in somatomotor representations of others' pain: a permutation-based analysis.

Brain Struct Funct 2018 Dec 14. Epub 2018 Dec 14.

Ahmanson-Lovelace Brain Mapping Center, Brain Research Institute, UCLA, Los Angeles, CA, USA.

Sex differences in empathy for pain have been repeatedly observed. However, it is unclear whether this is due to sex differences in "bottom-up" somatomotor representations of others' pain (self-other resonance) or to "top-down" prefrontal control of such responses. Here, we provide data from 70 subjects suggesting that sex differences in empathy for pain lie primarily in pre-reflective, bottom-up resonance mechanisms. Read More

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December 2018

Therapeutic potentials of the Rho kinase inhibitor Fasudil in experimental autoimmune encephalomyelitis and the related mechanisms.

Metab Brain Dis 2018 Dec 14. Epub 2018 Dec 14.

Institute of Brain Science, Shanxi Datong University, Datong, China.

Multiple sclerosis (MS), Parkinson's disease (PD), Alzheimer's disease (AD), and other neurodegenerative diseases of central nervous system (CNS) disorders are serious human health problems. Rho-kinase (ROCK) is emerging as a potentially important therapeutic target relevant to inflammatory neurodegeneration diseases. This is supported by studies showing the beneficial effects of fasudil, a ROCK inhibitor, in inflammatory neurodegeneration diseases. Read More

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December 2018

Time-course study of high fat diet induced alterations in spatial memory, hippocampal JNK, P38, ERK and Akt activity.

Metab Brain Dis 2018 Dec 14. Epub 2018 Dec 14.

Department of Physiology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Consumption of high fat diet (HFD) is a health concern in modern societies, which participate in wide range of diseases. One underlying mechanism in the HFD mediated pathologies is disruption of insulin signaling activity. It is believed that HFD activates several stress signaling molecules such as MAPKs signaling pathway and these molecules participate in harmful effects in different cell populations including hippocampal cells. Read More

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December 2018

Correction to: The Neural Substrate of Reward Anticipation in Health: A Meta-Analysis of fMRI Findings in the Monetary Incentive Delay Task.

Neuropsychol Rev 2018 Dec 14. Epub 2018 Dec 14.

Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, London, SE5 8AF, UK.

The members of MTAC were removed from the author group and full list are shown in the Acknowledgements section. Also, members "Roee, A" and "Van Amselvoort, T" should be "Admon, R" and "Van Amelsvoort, T", respectively. The original article has been corrected. Read More

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December 2018

Automatic Thalamus Segmentation on Unenhanced 3D T1 Weighted Images: Comparison of Publicly Available Segmentation Methods in a Pediatric Population.

Neuroinformatics 2018 Dec 14. Epub 2018 Dec 14.

Department of Diagnostic Radiology, American University of Beirut Medical Center, Riad El-Solh, P.O.Box: 11-0236, Beirut, 1107 2020, Lebanon.

The anatomical structure of the thalamus renders its segmentation on 3DT1 images harder due to its low tissue contrast, and not well-defined boundaries. We aimed to investigate the differences in the precision of publicly available segmentation techniques on 3DT1 images acquired at 1.5 T and 3 T machines compared to the thalamic manual segmentation in a pediatric population. Read More

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December 2018

Altered structural connectivity of the motor subnetwork in multiple system atrophy with cerebellar features.

Eur Radiol 2018 Dec 14. Epub 2018 Dec 14.

Symbiosis Center for Medical Image Analysis and Symbiosis Institute of Technology, Symbiosis International University, Lavale, Mulshi, Pune, Maharashtra, 412115, India.

Objectives: To investigate the structural connectivity of the motor subnetwork in multiple system atrophy with cerebellar features (MSA-C), a distinct subtype of MSA, characterized by predominant cerebellar symptoms.

Methods: Twenty-three patients with MSA-C and 25 age- and gender-matched healthy controls were recruited for the study. Disease severity was quantified using the Unified Multiple System Atrophy Rating Scale (UMSARS). Read More

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December 2018
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Eur J Hum Genet 2018 Dec 14. Epub 2018 Dec 14.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, 8952, Switzerland.

Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating conditions. Recent studies emphasized de novo variants as major underlying cause suggesting a generally low-recurrence risk. In order to better understand the full genetic landscape of EE and DEE, we performed high-resolution chromosomal microarray analysis in combination with whole-exome sequencing in 63 deeply phenotyped independent patients. Read More

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December 2018

Skewed X-inactivation is common in the general female population.

Eur J Hum Genet 2018 Dec 14. Epub 2018 Dec 14.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

X-inactivation is a well-established dosage compensation mechanism ensuring that X-chromosomal genes are expressed at comparable levels in males and females. Skewed X-inactivation is often explained by negative selection of one of the alleles. We demonstrate that imbalanced expression of the paternal and maternal X-chromosomes is common in the general population and that the random nature of the X-inactivation mechanism can be sufficient to explain the imbalance. Read More

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December 2018
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Eur J Hum Genet 2018 Dec 14. Epub 2018 Dec 14.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France.

Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200 implicated genes to date. Nonetheless, important inter-laboratory diversity of gene panels exists at national and international levels, complicating the exchange of data and the visibility of the diagnostic offers available for referring neurologists. To address this issue, we here describe the initiative of the genetic diagnosis section of the French National Network for Rare Neuromuscular Diseases (Filière Nationale des Maladies Rares Neuromusculaires, FILNEMUS), which led to set up a consensual nationwide diagnostic strategy among the nine French genetic diagnosis laboratories using NGS for myopathies. Read More

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December 2018

Global mapping for the epidemiology of paediatric spinal cord damage: towards a living data repository.

Spinal Cord 2018 Dec 14. Epub 2018 Dec 14.

Kids Rehab, The Children's Hospital at Westmead, Westmead, NSW, Australia.

Study Design: Literature review.

Objectives: Globally map key paediatric spinal cord damage epidemiological measures and provide a framework for an ongoing repository of data.

Setting: Worldwide, initiative of ISCoS Prevention Committee. Read More

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December 2018

Validation of the short version of the Van Lieshout Test in an Italian population with cervical spinal cord injuries: a cross-sectional study.

Spinal Cord 2018 Dec 14. Epub 2018 Dec 14.

Department of Public Health and Infection Disease, Sapienza University of Rome, Rome, Italy.

Study Design: Psychometric study.

Objective: To validate the Italian version of the Van Lieshout Test Short Version (VLT-SV) with a spinal cord injury population.

Setting: Three Italian spinal units. Read More

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December 2018

Non-traumatic spinal cord injury in Norway 2012-2016: analysis from a national registry and comparison with traumatic spinal cord injury.

Spinal Cord 2018 Dec 14. Epub 2018 Dec 14.

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

Study Design: Registry-based cross-sectional study.

Objectives: To describe and analyze epidemiological and demographic characteristics of non-traumatic spinal cord injury (NTSCI) and to compare persons with NTSCI and traumatic spinal cord injury (TSCI).

Setting: A total of 225 non-traumatic and 349 traumatic SCI patients were admitted for primary rehabilitation at one of the three specialized SCI departments in Norway (located in Bergen, Trondheim, and Oslo) from 2012 to 2016. Read More

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December 2018

Portraits of communication in neuronal networks.

Nat Rev Neurosci 2018 Dec 14. Epub 2018 Dec 14.

Bernstein Center Freiburg, University of Freiburg, Freiburg, Germany.

The brain is organized as a network of highly specialized networks of spiking neurons. To exploit such a modular architecture for computation, the brain has to be able to regulate the flow of spiking activity between these specialized networks. In this Opinion article, we review various prominent mechanisms that may underlie communication between neuronal networks. Read More

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December 2018

Disarming the guards of change.

Authors:
Sian Lewis

Nat Rev Neurosci 2018 Dec 14. Epub 2018 Dec 14.

Nature Reviews Neuroscience, .

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December 2018
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A novel role for E2F3b in regulating cocaine action in the prefrontal cortex.

Neuropsychopharmacology 2018 Dec 14. Epub 2018 Dec 14.

Department of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Drug abuse is a multifaceted disorder that involves maladaptive decision making. Long-lasting changes in the addicted brain are mediated by a complex circuit of brain reward regions. The prefrontal cortex (PFC) is one region in which chronic drug exposure changes expression and function of upstream transcriptional regulators to alter drug responses and aspects of the addicted phenotype. Read More

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December 2018

Cardioimmunology of arrhythmias: the role of autoimmune and inflammatory cardiac channelopathies.

Nat Rev Immunol 2018 Dec 14. Epub 2018 Dec 14.

Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy.

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December 2018

Miniscule differences between sex chromosomes in the giant genome of a salamander.

Sci Rep 2018 Dec 14;8(1):17882. Epub 2018 Dec 14.

Department of Biology, University of Kentucky, Lexington, KY, USA.

In the Mexican axolotl (Ambystoma mexicanum), sex is determined by a single Mendelian factor, yet its sex chromosomes do not exhibit morphological differentiation typical of many vertebrate taxa that possess a single sex-determining locus. As sex chromosomes are theorized to differentiate rapidly, species with undifferentiated sex chromosomes provide the opportunity to reconstruct early events in sex chromosome evolution. Whole genome sequencing of 48 salamanders, targeted chromosome sequencing and in situ hybridization were used to identify the homomorphic sex chromosome that carries an A. Read More

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December 2018

Transcriptome 3'end organization by PCF11 links alternative polyadenylation to formation and neuronal differentiation of neuroblastoma.

Nat Commun 2018 Dec 14;9(1):5331. Epub 2018 Dec 14.

Posttranscriptional Gene Regulation, Cancer Research and Experimental Haemostasis, University Medical Centre Mainz, Mainz, 55131, Germany.

Diversification at the transcriptome 3'end is an important and evolutionarily conserved layer of gene regulation associated with differentiation and dedifferentiation processes. Here, we identify extensive transcriptome 3'end-alterations in neuroblastoma, a tumour entity with a paucity of recurrent somatic mutations and an unusually high frequency of spontaneous regression. Utilising extensive RNAi-screening we reveal the landscape and drivers of transcriptome 3'end-diversification, discovering PCF11 as critical regulator, directing alternative polyadenylation (APA) of hundreds of transcripts including a differentiation RNA-operon. Read More

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December 2018

Exploratory genome-wide association analysis of response to ketamine and a polygenic analysis of response to scopolamine in depression.

Transl Psychiatry 2018 Dec 14;8(1):280. Epub 2018 Dec 14.

Statistical Genomics and Data Analysis Core, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

Growing evidence suggests that the glutamatergic modulator ketamine has rapid antidepressant effects in treatment-resistant depressed subjects. The anticholinergic agent scopolamine has also shown promise as a rapid-acting antidepressant. This study applied genome-wide markers to investigate the role of genetic variants in predicting acute antidepressant response to both agents. Read More

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December 2018

Prolonged allocentric navigation deficits indicate hippocampal damage in TGA.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Department of Neurology (F.S., C.T., M.D., A.Z.), German Center for Vertigo and Balance Disorders (F.S., S.I., C.P., S.B., C.T., E.S., G.K., P.B., M.D., T.B., A.Z.), Graduate School of Systemic Neuroscience (S.I., M.D., T.B.), Department of Nuclear Medicine (P.B.), and Clinical Neurosciences (T.B.), Ludwig Maximilians University, Munich; and Munich Cluster of Systems Neurology (P.B., M.D.), SyNergy, Munich, Germany.

Objective: To investigate long-term recovery of allocentric and egocentric spatial orientation as a sensitive marker for hippocampal and extrahippocampal network function in transient global amnesia (TGA).

Methods: A group of 18 patients with TGA performed an established real-space navigation paradigm, requiring allo- and egocentric spatial orientation abilities, 3 days (postacute stage) and 3 months (follow-up) after symptom onset. Visual exploration behavior and navigation strategy were documented by a gaze-controlled, head-fixed camera. Read More

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December 2018
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Sleep-disordered breathing among patients admitted for inpatient video-EEG monitoring.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Departments of Medicine (S.S., Z.C., A.P., C.J.R., N.C.J., C.F., P.P., P.K., T.J.O.), Neurology (S.S., E.J.W., A.P., C.H., J.C., C.J.R., R.Y., C.F., P.P., P.K., T.J.O.), and Respiratory and Sleep Disorders Medicine (T.M., J.G.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Department of Neuroscience (S.S., Z.C., A.P., N.C.J., C.F., P.P., P.K., T.J.O.), Central Clinical School, Monash University; Department of Neurology (S.S., A.P., P.P., P.K., T.J.O.), The Alfred Hospital; and Neuropsychiatry Unit (S.F., D.V.), The Royal Melbourne Hospital and Melbourne Neuropsychiatry Centre, Australia.

Objective: To examine the prevalence and risk factors of sleep-disordered breathing (SDB) in individuals with epilepsy and psychogenic nonepileptic seizures (PNES).

Methods: We conducted a cross-sectional study of consecutive patients admitted for inpatient video-EEG monitoring at The Royal Melbourne Hospital, Australia, between December 1, 2011, and July 31, 2017. Participants underwent routine clinical investigations during their monitoring period including polysomnography, neurocognitive testing, and screening instruments of daytime somnolence, sleep quality, and quality of life. Read More

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December 2018