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Functional neurological disorder

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https://www.readbyqxmd.com/read/29035369/epigenetic-suppression-of-hippocampal-calbindin-d28k-by-%C3%AE-fosb-drives-seizure-related-cognitive-deficits
#1
Jason C You, Kavitha Muralidharan, Jin W Park, Iraklis Petrof, Mark S Pyfer, Brian F Corbett, John J LaFrancois, Yi Zheng, Xiaohong Zhang, Carrie A Mohila, Daniel Yoshor, Robert A Rissman, Eric J Nestler, Helen E Scharfman, Jeannie Chin
The calcium-binding protein calbindin-D28k is critical for hippocampal function and cognition, but its expression is markedly decreased in various neurological disorders associated with epileptiform activity and seizures. In Alzheimer's disease (AD) and epilepsy, both of which are accompanied by recurrent seizures, the severity of cognitive deficits reflects the degree of calbindin reduction in the hippocampal dentate gyrus (DG). However, despite the importance of calbindin in both neuronal physiology and pathology, the regulatory mechanisms that control its expression in the hippocampus are poorly understood...
October 16, 2017: Nature Medicine
https://www.readbyqxmd.com/read/29033643/dandy-walker-malformation-presenting-with-affective-symptoms
#2
Mert Batmaz, Zeynep Ezgi Balçik, Ürün Özer, Burcu Hamurişçi Yalçin, Şakir Özen
Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29032758/multifaceted-effects-of-delta-opioid-receptors-and-dadle-in-diseases-of-the-nervous-system
#3
Jea-Young Lee, M Grant Liska, Marci Crowley, Kaya Xu, Sandra A Acosta, Cesar V Borlongan, Vivian A Guedes
The opioid system is considered a potential therapeutic target in a variety of neurological disorders. Delta opioid receptors (DOPs) are broadly expressed in the brain, and their activation protects cells from hypoxic/ischemic insults by counteracting disruptions of ionic homeostasis and initiating neuroprotective pathways. The DOP agonist D-Ala2-D-Leu2-Enkephalin (DADLE) promotes neuronal survival, mitigates apoptotic pathways, and protects neurons and glial cells from ischemia-induced cell death, thus making DADLE a promising therapeutic option for stroke...
October 10, 2017: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/29032144/peroxisome-proliferator-activated-receptor-%C3%AE-ppar%C3%AE-a-master-gatekeeper-in-cns-injury-and-repair
#4
REVIEW
Wei Cai, Tuo Yang, Huan Liu, Lijuan Han, Kai Zhang, Xiaoming Hu, Xuejing Zhang, Ke-Jie Yin, Yanqin Gao, Michael V L Bennett, Rehana K Leak, Jun Chen
Peroxisome proliferator-activated receptor γ (PPARγ) is a widely expressed ligand-modulated transcription factor that governs the expression of genes involved in inflammation, redox equilibrium, trophic factor production, insulin sensitivity, and the metabolism of lipids and glucose. Synthetic PPARγ agonists (e.g. thiazolidinediones) are used to treat Type II diabetes and have the potential to limit the risk of developing brain injury by mitigating the influence of comorbidities. If brain injury develops, PPARγ serves as a master gatekeeper of cytoprotective stress responses, improving the chances of survival and recovery of homeostatic equilibrium...
October 11, 2017: Progress in Neurobiology
https://www.readbyqxmd.com/read/29032009/potential-for-stem-cell-treatment-in-manganism
#5
Thatiane C de Moura, Szeifoul Afadlal, Alan S Hazell
Development of manganism (also known as manganese neurotoxicity) is a major complication of manganese exposure in which neurological dysfunction is linked to accumulation of the metal in brain. Due to neuronal cell death in basal ganglia structures, particularly the globus pallidus, functional recovery is limited. Bearing a resemblance to Parkinson's disease, effective treatment for manganism is currently limited. However, the rapidly developing field of stem cell research offers new hope for the treatment of illnesses in which neurodegeneration is a major feature...
October 11, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/29031764/combined-resting-state-functional-magnetic-resonance-imaging-and-diffusion-tensor-imaging-study-in-patients-with-idiopathic-restless-legs-syndrome
#6
Yaoyao Zhuo, Yuncheng Wu, Yanhong Xu, Lunbo Lu, Ting Li, Xifu Wang, Kangan Li
OBJECTIVE: Restless legs syndrome (RLS) is a common neurological disorder characterized by an urge to move the legs along with paraesthesia deep within them. In this study, we aimed to use diffusion tensor imaging (DTI) and regional homogeneity (ReHo) to investigate the changes in regional spontaneous brain activity change for RLS patients against age- and gender-matched normal control (NC) subjects. METHODS: A total of 35 RLS patients and 27 age- and gender-matched NC subjects were recruited for group comparison research that used DTI and ReHo techniques...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29031410/harnessing-gut-microbes-for-mental-health-getting-from-here-to-there
#7
REVIEW
Annadora J Bruce-Keller, J Michael Salbaum, Hans-Rudolf Berthoud
There has been an explosion of interest in the study of microorganisms inhabiting the gastrointestinal tract (gut microbiota) and their impact on host health and physiology. Accumulating data suggest that altered communication between gut microbiota and host systems could participate in disorders such as obesity, diabetes mellitus, and autoimmune disorders as well as neuropsychiatric disorders, including autism, anxiety, and major depressive disorders. The conceptual development of the microbiome-gut-brain axis has facilitated understanding of the complex and bidirectional networks between gastrointestinal microbiota and their host, highlighting potential mechanisms through which this environment influences central nervous system physiology...
August 30, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29030878/the-association-between-ptsd-and-functional-outcome-is-mediated-by-perception-of-cognitive-problems-rather-than-objective-neurological-test-performance
#8
Kristin W Samuelson, Linda Abadjian, Joshua T Jordan, Alisa Bartel, Jennifer Vasterling, Karen Seal
Posttraumatic stress disorder (PTSD) has been consistently linked to poorer functional outcomes, including quality of life, health problems, and social and occupational functioning. Less is known about the potential mechanisms by which PTSD leads to poorer functional outcomes. We hypothesized that neurocognitive functioning and perception of cognitive problems would both mediate the relationship between PTSD diagnosis and functioning. In a sample of 140 veterans of the recent wars and conflicts in Iraq and Afghanistan, we assessed PTSD symptoms, history of traumatic brain injury (TBI), depression, self-report measures of quality of life, social and occupational functioning, and reintegration to civilian life, as well as perception of cognitive problems...
October 14, 2017: Journal of Traumatic Stress
https://www.readbyqxmd.com/read/29029846/identification-of-novel-risk-loci-for-restless-legs-syndrome-in-genome-wide-association-studies-in-individuals-of-european-ancestry-a-meta-analysis
#9
Barbara Schormair, Chen Zhao, Steven Bell, Erik Tilch, Aaro V Salminen, Benno Pütz, Yves Dauvilliers, Ambra Stefani, Birgit Högl, Werner Poewe, David Kemlink, Karel Sonka, Cornelius G Bachmann, Walter Paulus, Claudia Trenkwalder, Wolfgang H Oertel, Magdolna Hornyak, Maris Teder-Laving, Andres Metspalu, Georgios M Hadjigeorgiou, Olli Polo, Ingo Fietze, Owen A Ross, Zbigniew Wszolek, Adam S Butterworth, Nicole Soranzo, Willem H Ouwehand, David J Roberts, John Danesh, Richard P Allen, Christopher J Earley, William G Ondo, Lan Xiong, Jacques Montplaisir, Ziv Gan-Or, Markus Perola, Pavel Vodicka, Christian Dina, Andre Franke, Lukas Tittmann, Alexandre F R Stewart, Svati H Shah, Christian Gieger, Annette Peters, Guy A Rouleau, Klaus Berger, Konrad Oexle, Emanuele Di Angelantonio, David A Hinds, Bertram Müller-Myhsok, Juliane Winkelmann
BACKGROUND: Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets. METHODS: In the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15 126 cases and 95 725 controls of European ancestry...
November 2017: Lancet Neurology
https://www.readbyqxmd.com/read/29028946/mouse-cntnap2-and-human-cntnap2-asd-alleles-cell-autonomously-regulate-pv-cortical-interneurons
#10
Daniel Vogt, Kathleen K A Cho, Samantha M Shelton, Anirban Paul, Z Josh Huang, Vikaas S Sohal, John L R Rubenstein
Human mutations in CNTNAP2 are associated with an array of neuropsychiatric and neurological syndromes, including speech and language disorders, epilepsy, and autism spectrum disorder (ASD). We examined Cntnap2's expression and function in GABAergic cortical interneurons (CINs), where its RNA is present at highest levels in chandelier neurons, PV+ neurons and VIP+ neurons. In vivo functions were studied using both constitutive Cntnap2 null mice and a transplantation assay, the latter to assess cell autonomous phenotypes of medial ganglionic eminence (MGE)-derived CINs...
September 28, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29028801/docrl-maintains-immune-cell-quiescence-by-regulating-endosomal-traffic
#11
Steven J Del Signore, Sarah A Biber, Katherine S Lehmann, Stephanie R Heimler, Benjamin H Rosenfeld, Tania L Eskin, Sean T Sweeney, Avital A Rodal
Lowe Syndrome is a developmental disorder characterized by eye, kidney, and neurological pathologies, and is caused by mutations in the phosphatidylinositol-5-phosphatase OCRL. OCRL plays diverse roles in endocytic and endolysosomal trafficking, cytokinesis, and ciliogenesis, but it is unclear which of these cellular functions underlie specific patient symptoms. Here, we show that mutation of Drosophila OCRL causes cell-autonomous activation of hemocytes, which are macrophage-like cells of the innate immune system...
October 13, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29028184/native-kcc2-interactome-reveals-pacsin1-as-a-critical-regulator-of-synaptic-inhibition
#12
Vivek Mahadevan, C Sahara Khademullah, Zahra Dargaei, Jonah Chevrier, Pavel Uvarov, Julian Kwan, Richard D Bagshaw, Tony Pawson, Andrew Emili, Yves De Koninck, Victor Anggono, Matti Airaksinen, Melanie A Woodin
KCC2 is a neuron-specific K(+)-Cl(-) cotransporter essential for establishing the Cl(-) gradient required for hyperpolarizing inhibition in the central nervous system (CNS). KCC2 is highly localized to excitatory synapses where it regulates spine morphogenesis and AMPA receptor confinement. Aberrant KCC2 function contributes to human neurological disorders including epilepsy and neuropathic pain. Using functional proteomics, we identified the KCC2-interactome in the mouse brain to determine KCC2-protein interactions that regulate KCC2 function...
October 13, 2017: ELife
https://www.readbyqxmd.com/read/29026310/laser-interstitial-thermal-therapy-for-the-treatment-of-epilepsy-evidence-to-date
#13
REVIEW
Navika D Shukla, Allen L Ho, Arjun V Pendharkar, Eric S Sussman, Casey H Halpern
Medically intractable epilepsy is associated with increased morbidity and mortality. For those with focal epilepsy and correlated electrophysiological or radiographic features, open surgical resection can achieve high rates of seizure control, but can be associated with neurologic deficits and cognitive effects. Recent innovations have allowed for more minimally invasive methods of surgical seizure control such as magnetic resonance-guided laser interstitial therapy (MRgLITT). MRgLITT achieves the goal of ablating seizure foci while preserving neuropsycho-logical function and offering real-time feedback and monitoring of tissue ablation...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29025283/translation-reliability-and-clinical-utility-of-the-melbourne-assessment-2
#14
Corinna N Gerber, Anael Plebani, Rob Labruyère
OBJECTIVE: The aims were to (i) provide a German translation of the Melbourne Assessment 2 (MA2), a quantitative test to measure unilateral upper limb function in children with neurological disabilities and (ii) to evaluate its reliability and aspects of clinical utility. METHODS: After its translation into German and approval of the back translation by the original authors, the MA2 was performed and videotaped twice with 30 children with neuromotor disorders. For each participant, two raters scored the video of the first test for inter-rater reliability...
October 12, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29024665/astrocyte-secreted-glypican-4-regulates-release-of-neuronal-pentraxin-1-from-axons-to-induce-functional-synapse-formation
#15
Isabella Farhy-Tselnicker, Adriana C M van Casteren, Aletheia Lee, Veronica T Chang, A Radu Aricescu, Nicola J Allen
The generation of precise synaptic connections between developing neurons is critical to the formation of functional neural circuits. Astrocyte-secreted glypican 4 induces formation of active excitatory synapses by recruiting AMPA glutamate receptors to the postsynaptic cell surface. We now identify the molecular mechanism of how glypican 4 exerts its effect. Glypican 4 induces release of the AMPA receptor clustering factor neuronal pentraxin 1 from presynaptic terminals by signaling through presynaptic protein tyrosine phosphatase receptor δ...
October 11, 2017: Neuron
https://www.readbyqxmd.com/read/29024324/clinical-implications-of-gastrointestinal-symptoms-in-systemic-amyloidosis
#16
T Yen, F W Chen, R M Witteles, M Liedtke, L A Nguyen
BACKGROUND: Gastrointestinal (GI) symptoms in systemic amyloidosis patients are poorly characterized. This purpose of this study is to define the epidemiology and clinical implications of such symptoms. METHODS: This was a retrospective cohort study of 583 amyloid patients seen at a tertiary referral center. Of 96 symptomatic patients, 82 received endoscopic biopsies, subsequently grouped into those with histologic evidence of GI amyloid (biopsy proven) vs without (biopsy absent)...
October 10, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29023772/negative-modulation-of-the-gabaa-%C3%AF-1-receptor-function-by-l-cysteine
#17
Andrea N Beltrán González, Florencia Vicentini, Daniel J Calvo
L-Cysteine is an endogenous Sulphur containing amino acid with multiple and varied roles in the central nervous system, including neuroprotection and the maintenance of the redox balance. However, it was also suggested as an excitotoxic agent implicated in the pathogenesis of neurological disorders such as Parkinson's and Alzheimer's disease. L-Cysteine can modulate the activity of ionic channels, including voltage-gated calcium channels and glutamatergic NMDA receptors, whereas its effects on GABAergic neurotransmission had not been studied before...
October 10, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29021780/chronic-5-aminoimidazole-4-carboxamide-1-%C3%AE-d-ribofuranoside-treatment-induces-phenotypic-changes-in-skeletal-muscle-but-does-not-improve-disease-outcomes-in-the-r6-2-mouse-model-of-huntington-s-disease
#18
Marie-France Paré, Bernard J Jasmin
Huntington's disease (HD) is an autosomal dominant neurodegenerative genetic disorder characterized by motor, cognitive, and psychiatric symptoms. It is well established that regular physical activity supports brain health, benefiting cognitive function, mental health as well as brain structure and plasticity. Exercise mimetics (EMs) are a group of drugs and small molecules that target signaling pathways in skeletal muscle known to be activated by endurance exercise. The EM 5-aminoimidazole-4-carboxamide-1-β-d-ribofuranoside (AICAR) has been shown to induce cognitive benefits in healthy mice...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29020968/robot-assisted-assessment-of-muscle-strength
#19
REVIEW
Marco Toigo, Martin Flück, Robert Riener, Verena Klamroth-Marganska
Impairment of neuromuscular function in neurological disorders leads to reductions in muscle force, which may lower quality of life. Rehabilitation robots that are equipped with sensors are able to quantify the extent of muscle force impairment and to monitor a patient during the process of neurorehabilitation with sensitive and objective assessment methods. In this article, we provide an overview of fundamental aspects of muscle function and how the corresponding variables can be quantified by means of meaningful robotic assessments that are primarily oriented towards upper limb neurorehabilitation...
October 11, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/29020466/improving-post-stroke-cognitive-and-behavioral-abnormalities-by-using-virtual-reality-a-case-report-on-a-novel-use-of-nirvana
#20
Rosaria De Luca, Michele Torrisi, Adriana Piccolo, Giovanni Bonfiglio, Provvidenza Tomasello, Antonino Naro, Rocco Salvatore Calabrò
Cognitive impairment, as well as mood and anxiety disorders, occur frequently in patients following stroke. Aim of this study was to evaluate the effects of a combined rehabilitative treatment using conventional relaxation and respiratory techniques, in a specific rehabilitative virtual environment (by using Bts-Nirvana). A 58-year-old woman, affected by hemorrhagic stroke, underwent two different rehabilitation trainings, including either standard relaxation techniques alone in a common clinical setting or the same psychological approach in a semi-immersive virtual environment with an augmented sensorial (audio-video) and motor feedback (sensory motor-interaction)...
October 11, 2017: Applied Neuropsychology. Adult
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