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Functional movement disorder

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https://www.readbyqxmd.com/read/28634447/the-moving-rubber-hand-illusion-reveals-that-explicit-sense-of-agency-for-tapping-movements-is-preserved-in-functional-movement-disorders
#1
Angela Marotta, Federica Bombieri, Massimiliano Zampini, Federico Schena, Carlo Dallocchio, Mirta Fiorio, Michele Tinazzi
Functional movement disorders (FMD) are characterized by motor symptoms (e.g., tremor, gait disorder, and dystonia) that are not compatible with movement abnormalities related to a known organic cause. One key clinical feature of FMD is that motor symptoms are similar to voluntary movements but are subjectively experienced as involuntary by patients. This gap might be related to abnormal self-recognition of bodily action, which involves two main components: sense of agency and sense of body ownership. The aim of this study was to systematically investigate whether this function is altered in FMD, specifically focusing on the subjective feeling of agency, body ownership, and their interaction during normal voluntary movements...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28627375/modulation-of-sphingosine-1-phosphate-receptor-ameliorates-harmaline-induced-essential-tremor-in-rat
#2
Narjes Dahmardeh, Majid Asadi-Shekaari, Shokouh Arjmand, Tajpari Kalantaripour, Mohsen Basiri, Mohammad Shabani
Essential tremor (ET) is one of the most common movement disorders with unknown etiology. Despite lack of effective clinical treatments, some potential therapeutic factors and modulation of some neurotransmitters have been utilized to ameliorate motor symptoms in the animal models of tremor. In the current study, male Wistar rats (n=10 in each group) weighing 40-60g were divided into vehicle control groups (saline or DMSO), saline/DMSO+harmaline (30mg/kg, i.p.)+fingolimod (FTY720) (1mg/kg, i.p, 1h before harmaline injection) groups...
June 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28627133/mesocorticolimbic-hemodynamic-response-in-parkinson-s-disease-patients-with-compulsive-behaviors
#3
Daniel O Claassen, Adam J Stark, Charis A Spears, Kalen J Petersen, Nelleke C van Wouwe, Robert M Kessler, David H Zald, Manus J Donahue
BACKGROUND: PD patients treated with dopamine therapy can develop maladaptive impulsive and compulsive behaviors, manifesting as repetitive participation in reward-driven activities. This behavioral phenotype implicates aberrant mesocorticolimbic network function, a concept supported by past literature. However, no study has investigated the acute hemodynamic response to dopamine agonists in this subpopulation. OBJECTIVES: We tested the hypothesis that dopamine agonists differentially alter mesocortical and mesolimbic network activity in patients with impulsive-compulsive behaviors...
June 19, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28627117/the-cognitive-features-of-idiopathic-and-dyt1-dystonia
#4
REVIEW
Marjan Jahanshahi, Mariam Torkamani
Dystonia is a common movement disorder. In this paper, we review the literature on cognitive function in idiopathic and DYT1 dystonia. In idiopathic or DYT1 dystonia, cognition is largely intact with only isolated executive dysfunction. Dystonia patients also have increased temporal and spatial discrimination thresholds, considered endophenotypes of the disorder because deficits are also shown by unaffected relatives and nonmanifesting carriers of the DYT1 mutation. Anticholinergic medication in high doses can be associated with memory impairment in dystonia...
June 19, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#5
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28623544/clinical-feature-and-waveform-in-infantile-nystagmus-syndrome-in-children-with-frmd7-gene-mutations
#6
Dayong Bai, Wei Shi, Zhan Qi, Wei Li, Aihua Wei, Yanhui Cui, Cheng Li, Li Li
Infant nystagmus sydrome presents as involuntary eye movement disorder and can affect seriously ocular function. We performed a retrospective study of clinical data and FRMD7 genetic test results in 12 cases of infantile nystagmus syndrome to correlate waveform, stereopsis, and visual acuity. The patients (age 6.40±2.67 years) had FRMD7 mutations as follows: missense in eight cases, shear in two cases, frameshift in one case, and non-frameshift in one case. Horizontal jerk waveform was observed in six cases, versus horizontal pendulum in five cases and dual jerk in one case...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28621218/measuring-disability-in-patients-with-cervical-dystonia-according-to-the-international-classification-of-functioning-disability-and-health
#7
Joke De Pauw, Kevin van der Velden, Reen Cox, Steven Truijen, Patrick Cras, Rudy Mercelis, Willem De Hertogh
Cervical Dystonia (CD) is a rare movement disorder characterized by an abnormal head position. This cross-sectional study describes the health status and severity of disability using an internationally agreed language by applying the International Classification of Functioning, Disability and Health (ICF). Two disease-specific rating scales were administered to 30 patients with CD. By linking the individual answers to the ICF model, the frequency and severity of reported impairments and restrictions were estimated using a count-based method...
July 2017: OTJR: Occupation, Participation and Health
https://www.readbyqxmd.com/read/28619286/neuroprotective-potential-of-aloe-arborescens-against-copper-induced-neurobehavioral-features-of-parkinson-s-disease-in-rat
#8
Abdellatif Abbaoui, Omar El Hiba, Halima Gamrani
Copper (Cu) is an important trace element for the organism survival, which ensures the normal functioning of different biosystems. However, excessive levels of this heavy metal are responsible for profound physiological alterations including the central nervous system. Numerous findings sustain the involvement of heavy metals, as an environmental risk factor such as copper (Cu), in the neuropathology of Parkinson's disease (PD) which is a chronic neurodegenerative disorder that principally affects the motor system...
June 12, 2017: Acta Histochemica
https://www.readbyqxmd.com/read/28618973/from-clinical-uncertainties-to-precision-medicine-the-emerging-role-of-the-gut-barrier-and-microbiome-in-small-bowel-functional-diseases
#9
Wojciech Marlicz, Diana Yung, Karolina Skonieczna-Żydecka, Igor Loniewski, Saskia van Hemert, Beata Loniewska, Anastasios Koulaouzidis
Over the last decade, remarkable progress has been made in the understanding of disease pathophysiology. Many new theories expound on the importance of emerging factors such as microbiome influences, genomics/omics, stem cells, innate intestinal immunity or mucosal barrier complexities. This has introduced a further dimension of uncertainty into clinical decision-making, but equally, may shed some light on less well-understood and difficult to manage conditions. Areas covered: Comprehensive review of the literature on gut barrier and microbiome relevant to small bowel pathology...
June 16, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28607094/pharmacology-of-the-nav1-1-domain-iv-voltage-sensor-reveals-coupling-between-inactivation-gating-processes
#10
Jeremiah D Osteen, Kevin Sampson, Vivek Iyer, David Julius, Frank Bosmans
The Nav1.1 voltage-gated sodium channel is a critical contributor to excitability in the brain, where pathological loss of function leads to such disorders as epilepsy, Alzheimer's disease, and autism. This voltage-gated sodium (Nav) channel subtype also plays an important role in mechanical pain signaling by primary afferent somatosensory neurons. Therefore, pharmacologic modulation of Nav1.1 represents a potential strategy for treating excitability disorders of the brain and periphery. Inactivation is a complex aspect of Nav channel gating and consists of fast and slow components, each of which may involve a contribution from one or more voltage-sensing domains...
June 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28606495/personality-traits-in-psychogenic-nonepileptic-seizures-pnes-and-psychogenic-movement-disorder-pmd-neuroticism-and-perfectionism
#11
Vindhya Ekanayake, Sarah Kranick, Kathrin LaFaver, Arshi Naz, Anne Frank Webb, W Curt LaFrance, Mark Hallett, Valerie Voon
OBJECTIVE: Psychogenic movement disorder (PMD) and psychogenic nonepileptic seizures (PNES) are two subtypes of conversion disorder (CD). In this case-control study, we asked whether these subtypes varied as a function of personality and history of childhood abuse. METHODS: Fifty-nine patients with PMD from the Human Motor Control Section Clinic at the National Institutes of Health, 43 patients with PNES from the Rhode Island Hospital Neuropsychiatry and Behavioral Neurology Division, and 26 healthy volunteers (HC) received a battery of neurological, psychiatric and psychological assessments, including the NEO Personality Inventory Revised (NEO PI-R), the Childhood Trauma Questionnaire (CTQ), and the Traumatic Life Events Questionnaire (TLEQ)...
June 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28606234/-efficacy-and-safety-of-cyclophosphamide-as-a-sequential-immunotherapy-drug-for-anti-n-methyl-d-aspartate-receptor-encephalitis-in-children
#12
Wei-Wen Zhu, Wei-Ping Liao, Yong-Hong Yi, Xing-Wang Song
OBJECTIVE: To evaluate the efficacy and safety of cyclophosphamide as a second-line drug in the treatment of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. METHODS: Six children with anti-NMDAR encephalitis, who showed poor response to steroids and intravenous immunoglobulin, were given cyclophosphamide as a second-line immunotherapy. Follow-up was performed to evaluate the efficacy and safety of cyclophosphamide. RESULTS: After first-line immunotherapy for 1-4 weeks, the six patients had reduced psychiatric symptoms, seizures, and involuntary movements; three patients had an improved level of consciousness and were able to make simple conversations...
June 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28605373/modeling-fast-scan-cyclic-voltammetry-data-from-electrically-stimulated-dopamine-neurotransmission-data-using-qnsim1-0
#13
Rashed Harun, Christine M Grassi, Miranda J Munoz, Amy K Wagner
Central dopaminergic (DAergic) pathways have an important role in a wide range of functions, such as attention, motivation, and movement. Dopamine (DA) is implicated in diseases and disorders including attention deficit hyperactivity disorder, Parkinson's disease, and traumatic brain injury. Thus, DA neurotransmission and the methods to study it are of intense scientific interest. In vivo fast-scan cyclic voltammetry (FSCV) is a method that allows for selectively monitoring DA concentration changes with fine temporal and spatial resolution...
June 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28601961/basal-ganglia-movement-disorders-and-deep-brain-stimulation-advances-made-through-non-human-primate-research
#14
REVIEW
Thomas Wichmann, Hagai Bergman, Mahlon R DeLong
Studies in non-human primates (NHPs) have led to major advances in our understanding of the function of the basal ganglia and of the pathophysiologic mechanisms of hypokinetic movement disorders such as Parkinson's disease and hyperkinetic disorders such as chorea and dystonia. Since the brains of NHPs are anatomically very close to those of humans, disease states and the effects of medical and surgical approaches, such as deep brain stimulation (DBS), can be more faithfully modeled in NHPs than in other species...
June 10, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28599249/important-medicinal-herbs-in-parkinson-s-disease-pharmacotherapy
#15
REVIEW
Saurabh Srivastav, Mahino Fatima, Amal Chandra Mondal
Parkinson's disease (PD) is the most common progressive neurodegenerative movement disorder affecting more than 10 million people worldwide. The characteristic hallmark of PD involves progressive loss of dopaminergic (DA-ergic) neuron in Substantia Nigra pars compacta (SNpc) region of the brain, however, aetiology of the disease still remains unclear. Mitochondrial dysfunction and oxidative insult are considered to be the key culprit. The current therapy available for PD primarily relies on Levodopa that offers the potential of slowing down disease progression to some extent but includes lot of side effects...
June 6, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28598854/analysis-of-azithromycin-monohydrate-as-a-single-or-a-combinatorial-therapy-in-a-mouse-model-of-severe-spinal-muscular-atrophy
#16
Erkan Y Osman, Charles W Washington, Madeline E Simon, Dalia Megiddo, Dalia Hagar Greif, Christian L Lorson
BACKGROUND: Spinal muscular atrophy (SMA) is a neurodegenerative autosomal recessive disorder characterized by the loss of α-motor neurons. A variety of molecular pathways are being investigated to elevate SMN protein expression in SMA models and in the clinic. One of these approaches involves stabilizing the SMNΔ7 protein by inducing translational read-through. Previous studies have demonstrated that functionality and stability are partially restored to the otherwise unstable SMNΔ7 by the addition of non-specific C-terminal peptide sequences, or by inducing a similar molecular event through the use of read-through inducing compounds such as aminoglycosides...
June 9, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28598268/effects-of-pulmonary-exposure-to-chemically-distinct-welding-fumes-on-neuroendocrine-markers-of-toxicity
#17
K Krajnak, K Sriram, C Johnson, J R Roberts, R Mercer, G R Miller, O Wirth, J M Antonini
Exposure to welding fumes may result in disorders of the pulmonary, cardiovascular, and reproductive systems. Welders are also at a greater risk of developing symptoms similar to those seen in individuals with idiopathic Parkinson's disease. In welders, there are studies that suggest that alterations in circulating prolactin concentrations may be indicative of injury to the dopamine (DA) neurons in the substantia nigra. The goal of these studies was to use an established model of welding particulate exposure to mimic the effects of welding fume inhalation on reproductive functions...
June 9, 2017: Journal of Toxicology and Environmental Health. Part A
https://www.readbyqxmd.com/read/28598240/classical-autophagy-proteins-lc3b-and-atg4b-facilitate-melanosome-movement-on-cytoskeletal-tracks
#18
Amrita Ramkumar, Divya Murthy, Desingu Ayyappa Raja, Archana Singh, Anusha Krishnan, Sangeeta Khanna, Archana Vats, Lipi Thukral, Pushkar Sharma, Sridhar Sivasubbu, Rajni Rani, Vivek T Natarajan, Rajesh S Gokhale
Macroautophagy/autophagy is a dynamic and inducible catabolic process that responds to a variety of hormonal and environmental cues. Recent studies highlight the interplay of this central pathway in a variety of pathophysiological diseases. Although defective autophagy is implicated in melanocyte proliferation and pigmentary disorders, the mechanistic relationship between the 2 pathways have not been elucidated. In this study, we show that autophagic proteins LC3B and ATG4B mediate melanosome trafficking on cytoskeletal tracks...
June 9, 2017: Autophagy
https://www.readbyqxmd.com/read/28597694/everyday-functioning-of-people-with-parkinson-s-disease-and-impairments-in-executive-function-a-qualitative-investigation
#19
Aleksandra Kudlicka, John V Hindle, Laura E Spencer, Linda Clare
PURPOSE: Executive function is the key area of cognitive impairment in Parkinson's disease. This study investigated how cognitive difficulties impact on everyday life of people with Parkinson's disease and their carers, and whether they explicitly mention executive-type difficulties. METHODS: Semistructured interviews with 11 people with Parkinson's disease and six carers were analyzed thematically. People with Parkinson's disease performed within the normal range on cognitive screening tests, but all had abnormal scores on tests of executive function...
June 9, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28597560/l-dopa-responsiveness-is-associated-with-distinctive-connectivity-patterns-in-advanced-parkinson-s-disease
#20
Harith Akram, Chengyuan Wu, Jonathan Hyam, Thomas Foltynie, Patricia Limousin, Enrico De Vita, Tarek Yousry, Marjan Jahanshahi, Marwan Hariz, Timothy Behrens, John Ashburner, Ludvic Zrinzo
BACKGROUND: Neuronal loss and dopamine depletion alter motor signal processing between cortical motor areas, basal ganglia, and the thalamus, resulting in the motor manifestations of Parkinson's disease. Dopamine replacement therapy can reverse these manifestations with varying degrees of improvement. METHODS: To evaluate functional connectivity in patients with advanced Parkinson's disease and changes in functional connectivity in relation to the degree of response to l-dopa, 19 patients with advanced Parkinson's disease underwent resting-state functional magnetic resonance imaging in the on-medication state...
June 2017: Movement Disorders: Official Journal of the Movement Disorder Society
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