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motor disorders

Michele Tinazzi, Christian Geroin, Marialuisa Gandolfi, Nicola Smania, Stefano Tamburin, Francesca Morgante, Alfonso Fasano
Pisa syndrome was first described in 1972 in patients treated with neuroleptics. Since 2003, when it was first reported in patients with Parkinson's disease (PD), Pisa syndrome has progressively drawn the attention of clinicians and researchers. Although emerging evidence has partially clarified its prevalence and pathophysiology, the current debate revolves around diagnostic criteria and assessment and the effectiveness of pharmacological, surgical, and rehabilitative approaches. Contrary to initial thought, Pisa syndrome is common among PD patients, with an estimated prevalence of 8...
October 25, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Marco Aurélio Fornazieri, Anibal Rodrigues Neto, Fabio de Rezende Pinna, Fabio Henrique Gobbi Porto, Paulo de Lima Navarro, Richard Louis Voegels, Richard L Doty
OBJECTIVE: Olfaction-related symptoms accompany migraine attacks and some, such as osmophobia, may be useful in differentiating migraine from other types of headaches. However, the types and frequencies of olfactory symptoms associated with migraine have not been well characterized. The goal of this study was to better characterize the olfactory symptoms of migraine. METHODS: A cross-sectional study was devised. One hundred and thirteen patients who met the International Classification of Headache Disorders II criteria for migraine were administered a new 65-item questionnaire specifically focused on olfaction-related experiences (eg, odor-related triggers, osmophobia, cacosmia, phantosmia, olfactory hallucinations, olfactory hypersensitivity, and self-perceived olfactory function)...
October 25, 2016: Headache
Federica Agosta, Roberto Gatti, Elisabetta Sarasso, Maria Antonietta Volonté, Elisa Canu, Alessandro Meani, Lidia Sarro, Massimiliano Copetti, Erik Cattrysse, Eric Kerckhofs, Giancarlo Comi, Andrea Falini, Massimo Filippi
Gait disorders represent a therapeutic challenge in Parkinson's disease (PD). This study investigated the efficacy of 4-week action observation training (AOT) on disease severity, freezing of gait and motor abilities in PD, and evaluated treatment-related brain functional changes. 25 PD patients with freezing of gait were randomized into two groups: AOT (action observation combined with practicing the observed actions) and "Landscape" (same physical training combined with landscape-videos observation). At baseline and 4-week, patients underwent clinical evaluation and fMRI...
October 24, 2016: Journal of Neurology
Pattamon Panyakaew, Hyun Joo Cho, Mark Hallett
Simple motor tics are sudden, nonrhythmic jerk like movements that are often preceded by premonitory urge and can be voluntarily suppressed. Some clinical characteristic of tics such as variability of movement, distractibility and fluctuating course can mimic functional movement disorders. Here we report a case of motor tics where the physiological approach in addition to careful clinical assessments is helpful to support the diagnosis of tic.
2016: Clin Neurophysiol Pract
Weiwei Zhong, Christopher Mychal Johnson, Yang Wu, Ningren Cui, Hao Xing, Shuang Zhang, Chun Jiang
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder caused mostly by disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability and synaptic communications. Several previous studies indicate that augmenting synaptic GABA receptors (GABAARs) can alleviate RTT-like symptoms in mice. In addition to the synaptic GABAARs, there is a group of GABAARs found outside the synaptic cleft with the capability to produce sustained inhibition, which may be potential therapeutic targets for the control of neuronal excitability in RTT...
2016: Journal of Neurodevelopmental Disorders
Milo B Fasken, Jillian S Losh, Sara W Leung, Sergine Brutus, Brittany Avin, Jillian C Vaught, Jennifer Potter-Birriel, Taylor Craig, Graeme L Conn, Katherine Mills-Lujan, Anita H Corbett, Ambro van Hoof
Pontocerebellar Hypoplasia type 1b (PCH1b) is an autosomal recessive disorder that causes cerebellar hypoplasia and spinal motor neuron degeneration leading to mortality in early childhood. PCH1b is caused by mutations in the RNA exosome subunit gene, EXOSC3 The RNA exosome is an evolutionarily conserved complex, consisting of nine different core subunits and one or two 3'-5' exoribonuclease subunits, that mediates several RNA degradation and processing steps. The goal of this study is to assess the functional consequences of the amino acid substitutions that have been identified in EXOSC3 in PCH1b patients...
October 24, 2016: Genetics
Mengxuan Tang, Davis C Ryman, Eric McDade, Mateusz S Jasielec, Virginia D Buckles, Nigel J Cairns, Anne M Fagan, Alison Goate, Daniel S Marcus, Chengjie Xiong, Ricardo F Allegri, Jasmeer P Chhatwal, Adrian Danek, Martin R Farlow, Nick C Fox, Bernardino Ghetti, Neill R Graff-Radford, Christopher Laske, Ralph N Martins, Colin L Masters, Richard P Mayeux, John M Ringman, Martin N Rossor, Stephen P Salloway, Peter R Schofield, John C Morris, Randall J Bateman
BACKGROUND: Autosomal dominant familial Alzheimer's disease (ADAD) is a rare disorder with non-amnestic neurological symptoms in some clinical presentations. We aimed to compile and compare data from symptomatic participants in the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS) with those reported in the literature to estimate the prevalences of non-amnestic neurological symptoms in participants with ADAD. METHODS: We prospectively collected data from the DIAN-OBS database, which recruited participants from study centres in the USA, Europe, and Australia, between Feb 29, 2008, and July 1, 2014...
October 21, 2016: Lancet Neurology
C Grillon, O J Robinson, K O'Connell, A Davis, G Alvarez, D S Pine, M Ernst
BACKGROUND: Laboratory tasks to delineate anxiety disorder features are used to refine classification and inform our understanding of etiological mechanisms. The present study examines laboratory measures of response inhibition, specifically the inhibition of a pre-potent motor response, in clinical anxiety. Data on associations between anxiety and response inhibition remain inconsistent, perhaps because of dissociable effects of clinical anxiety and experimentally manipulated state anxiety...
October 25, 2016: Psychological Medicine
Connor H G Patros, R Matt Alderson, Kristen L Hudec, Stephanie J Tarle, Sarah E Lea
Changes in motor activity were examined across control and executive function (EF) tasks that differ with regard to demands placed on visuospatial working memory (VS-WM) and self-control processes. Motor activity was measured via actigraphy in 8- to 12-year-old boys with (n=15) and without (n=17) attention-deficit/hyperactivity disorder (ADHD) during the completion of VS-WM, self-control, and control tasks. Results indicated that boys with ADHD, relative to typically developing boys, exhibited greater motor activity across tasks, and both groups' activity was greater during EF tasks relative to control tasks...
October 21, 2016: Journal of Experimental Child Psychology
F Jagla
It is accepted that the formulation of the motor program in the brain is not only the perceptual and motor function but also the cognitive one. Therefore it is not surprising that the execution of saccadic eye movements can by substantially affected be the on-going mental activity of a given person. Not only the distribution of attention, but also the focusing the attention may influence the main gain of saccades, their accuracy. Patients suffering from mental disorders have strongly engaged their attention focused at their mental processes...
October 24, 2016: Physiological Research
P Rodríguez Iglesias, V Ibáñez Pradas, A Alamar Velázquez, I Ibáñez Alcañiz, M Couselo Jerez
INTRODUCTION: The cricopharyngeal achalasia is an esophageal motor disorder that entails a lack of relaxation of the upper esophageal sphincter. It is rare in children and its etiology is related to multiple factors. The symptoms are nonspecific and may be masked by other diseases. CLINICAL CASE: Report two infants with dysphagia and choking episodes. Upper gastrointestinal series confirmed cricopharyngeal achalasia. The first patient was treated with endoscopic dilatation, and did not require further therapies...
January 15, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
Jihyun Yoon, In Hwan Oh, Hyeyoung Seo, Eun Jung Kim, Young Hoon Gong, Minsu Ock, Dohee Lim, Won Kyung Lee, Ye Rin Lee, Dongwoo Kim, Min Woo Jo, Hyesook Park, Seok Jun Yoon
This study is part of a 5-year research project on the national burden of diseases, injuries, and risk factors in Korea. Using disability-adjusted life years (DALYs), a metric introduced by the 1990 Global Burden of Disease (GBD) project, we performed a comprehensive and detailed assessment of the magnitude and distribution of both fatal and non-fatal health problems in the Korean population. The concept and general approach were consistent with the original GBD study, with some methodological modifications to make the study more suitable for Korea...
November 2016: Journal of Korean Medical Science
Zsófia Bérces, Kinga Tóth, Gergely Márton, Ildikó Pál, Bálint Kováts-Megyesi, Zoltán Fekete, István Ulbert, Anita Pongrácz
Neural interface technologies including recording and stimulation electrodes are currently in the early phase of clinical trials aiming to help patients with spinal cord injuries, degenerative disorders, strokes interrupting descending motor pathways, or limb amputations. Their lifetime is of key importance; however, it is limited by the foreign body response of the tissue causing the loss of neurons and a reactive astrogliosis around the implant surface. Improving the biocompatibility of implant surfaces, especially promoting neuronal attachment and regeneration is therefore essential...
October 24, 2016: Scientific Reports
Antonino Naro, Antonino Leo, Antonio Buda, Alfredo Manuli, Alessia Bramanti, Placido Bramanti, Rocco Salvatore Calabrò
Visual fixation (VF) of a target is a possible, although atypical, feature of the Unresponsive Wakefulness Syndrome (UWS). Whether VF may indicate residual awareness in these patients is debatable, since it may simply subtend a series of reflex processes. Objective tools should therefore be used to identify aware VF, which depends on the integrity of visuomotor networks encompassing frontal-parietal-occipital areas. The aim of our study was to detect residual visuomotor network functionality potentially sustaining aware VF...
October 20, 2016: Brain Research
Berna van Wendel de Joode, Ana M Mora, Christian H Lindh, David Hernández-Bonilla, Leonel Córdoba, Catharina Wesseling, Jane A Hoppin, Donna Mergler
Certain pesticides may affect children's neurodevelopment. We assessed whether pesticide exposure was associated with impaired neurobehavioral outcomes in children aged 6-9 years. We conducted a cross-sectional study in 140 children living near banana plantations and plantain farms in the Talamanca County, Costa Rica and assessed their neurobehavioral performance. Exposure was determined by analyzing urinary metabolites of chlorpyrifos (3,5,6-trichloro-2-pyridinol, TCPy), mancozeb (ethylenethiourea, ETU), and pyrethroids (3-phenoxybenzoic acid, 3-PBA)...
September 15, 2016: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Jonica Campolo, Renata De Maria, Lorena Cozzi, Marina Parolini, Stefano Bernardi, Paola Proserpio, Lino Nobili, Giorgio Gelosa, Immacolata Piccolo, Elio C Agostoni, Maria G Trivella, Paolo Marraccini
OBJECTIVES: We explored the role of oxidative stress and inflammatory molecules as potential Parkinson (PD) biomarkers and correlated biological with non-motor abnormalities (olfactory impairment and dysautonomia), in patients with idiopathic REM behavior disorder (iRBD) (prodromal PD) and established PD. METHODS: We recruited 11 iRBD and 15 patients with idiopathic PD (Hohen&Yahr 1-3, on L-DOPA and dopamine agonists combination therapy) and 12 age- and sex-matched controls (CTRL)...
November 15, 2016: Journal of the Neurological Sciences
K R Sabitha, D Sanjay, B Savita, T R Raju, T R Laxmi
Neurons communicate with each other through intricate network to evolve higher brain functions. The electrical activity of the neurons plays a crucial role in shaping the connectivity. With motor neurons being vulnerable to neurodegenerative diseases, understanding the electrophysiological properties of motor neurons is the need of the hour, in order to comprehend the impairment of connectivity in these diseases. NSC-34 cell line serves as an excellent model to study the properties of motor neurons as they express Choline acetyltransferase (ChAT)...
November 15, 2016: Journal of the Neurological Sciences
J Lagarde, M Sarazin
Frontotemporal degeneration (FTD) in its behavioral variant (bvFTD) is probably one of the conditions that best illustrates the links between psychiatry and neurology. It is indeed admitted that between a third and half of patients with this condition, especially in early-onset forms, receive an initial diagnosis of psychiatric disorder (depression, schizophrenia, bipolar disorder) and are then referred to a psychiatric ward. BvFTD can thus be considered a neurological disorder with a psychiatric presentation...
October 20, 2016: L'Encéphale
Kinga Sałat, Adrian Podkowa, Natalia Malikowska, Felix Kern, Jörg Pabel, Ewelina Wojcieszak, Katarzyna Kulig, Klaus T Wanner, Beata Strach, Elżbieta Wyska
BACKGROUND AND PURPOSE: Since GABAergic dysfunction underlies a variety of neurological and psychiatric disorders, numerous strategies leading to the augmentation of GABAergic neurotransmission have been introduced. One of them is the inhibition of GABA reuptake from the synaptic cleft mediated by four plasma membrane GABA transporters (GAT1-4). GAT1 which is exclusively expressed in the brain is an interesting target for centrally acting drugs. In this research, pharmacological properties of a novel, highly potent and selective inhibitor of GAT1, the guvacine derivative named DDPM-2571, were assessed in vivo...
October 19, 2016: Neuropharmacology
Katarina Lazic, Jelena Petrovic, Jelena Ciric, Aleksandar Kalauzi, Jasna Saponjic
Postoperative sleep disorders, particularly the REM sleep disorder, may have a significant deleterious impact on postoperative outcomes and may contribute to the genesis of certain delayed postoperative complications. We have followed the effect of distinct anesthesia regimens (ketamine/diazepam vs. pentobarbital) over 6days following the induction of a stable anesthetized state in adult male Wistar rats, chronically instrumented for sleep recording. In order to compare the effect of both anesthetics in the physiological controls vs...
October 19, 2016: Physiology & Behavior
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