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Functional movement disorders

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https://www.readbyqxmd.com/read/28649997/characterizing-sleep-spindles-in-11-630-individuals-from-the-national-sleep-research-resource
#1
S M Purcell, D S Manoach, C Demanuele, B E Cade, S Mariani, R Cox, G Panagiotaropoulou, R Saxena, J Q Pan, J W Smoller, S Redline, R Stickgold
Sleep spindles are characteristic electroencephalogram (EEG) signatures of stage 2 non-rapid eye movement sleep. Implicated in sleep regulation and cognitive functioning, spindles may represent heritable biomarkers of neuropsychiatric disease. Here we characterize spindles in 11,630 individuals aged 4 to 97 years, as a prelude to future genetic studies. Spindle properties are highly reliable but exhibit distinct developmental trajectories. Across the night, we observe complex patterns of age- and frequency-dependent dynamics, including signatures of circadian modulation...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28649394/functional-neuroimaging-and-chorea-a-systematic-review
#2
REVIEW
Debra J Ehrlich, Ruth H Walker
Chorea is a hyperkinetic movement disorder consisting of involuntary irregular, flowing movements of the trunk, neck or face. Although Huntington's disease is the most common cause of chorea in adults, chorea can also result from many other neurodegenerative, metabolic, and autoimmune conditions. While the pathophysiology of these different conditions is quite variable, recent advances in functional imaging have enabled the development of new methods for analysis of brain activity and neuronal dysfunction. In this paper we review the growing body of functional imaging data that has been performed in chorea syndromes and identify particular trends, which can be used to better understand the underlying network changes within the basal ganglia...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28649224/the-video-head-impulse-test
#3
REVIEW
G M Halmagyi, Luke Chen, Hamish G MacDougall, Konrad P Weber, Leigh A McGarvie, Ian S Curthoys
In 1988, we introduced impulsive testing of semicircular canal (SCC) function measured with scleral search coils and showed that it could accurately and reliably detect impaired function even of a single lateral canal. Later we showed that it was also possible to test individual vertical canal function in peripheral and also in central vestibular disorders and proposed a physiological mechanism for why this might be so. For the next 20 years, between 1988 and 2008, impulsive testing of individual SCC function could only be accurately done by a few aficionados with the time and money to support scleral search-coil systems-an expensive, complicated and cumbersome, semi-invasive technique that never made the transition from the research lab to the dizzy clinic...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28647021/reprint-of-minimizing-noise-in-pediatric-task-based-functional-mri-adolescents-with-developmental-disabilities-and-typical-development
#4
Catherine Fassbender, Prerona Mukherjee, Julie B Schweitzer
Functional Magnetic Resonance Imaging (fMRI) represents a powerful tool with which to examine brain functioning and development in typically developing pediatric groups as well as children and adolescents with clinical disorders. However, fMRI data can be highly susceptible to misinterpretation due to the effects of excessive levels of noise, often related to head motion. Imaging children, especially with developmental disorders, requires extra considerations related to hyperactivity, anxiety and the ability to perform and maintain attention to the fMRI paradigm...
July 1, 2017: NeuroImage
https://www.readbyqxmd.com/read/28646852/the-facial-expression-of-schizophrenic-patients-applied-with-infrared-thermal-facial-image-sequence
#5
Bo-Lin Jian, Chieh-Li Chen, Wen-Lin Chu, Min-Wei Huang
BACKGROUND: Schizophrenia is a neurological disease characterized by alterations to patients' cognitive functions and emotional expressions. Relevant studies often use magnetic resonance imaging (MRI) of the brain to explore structural differences and responsiveness within brain regions. However, as this technique is expensive and commonly induces claustrophobia, it is frequently refused by patients. Thus, this study used non-contact infrared thermal facial images (ITFIs) to analyze facial temperature changes evoked by different emotions in moderately and markedly ill schizophrenia patients...
June 24, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28645892/meis1-effects-on-motor-phenotypes-and-the-sensorimotor-system-in-mice
#6
Aaro V Salminen, Lillian Garrett, Barbara Schormair, Jan Rozman, Florian Giesert, Kristina M Niedermeier, Lore Becker, Birgit Rathkolb, Ildikó Rácz, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Andreas Zimmer, Valérie Gailus-Durner, Miguel Torres, Helmut Fuchs, Martin Hrabě de Angelis, Wolfgang Wurst, Sabine M Hölter, Juliane Winkelmann
MEIS1 is a developmental transcription factor linked to restless legs syndrome (RLS) in genome-wide association studies. RLS is a movement disorder leading to severe sleep reduction and with significant impact on the quality-of-life of patients. In genome-wide association studies, MEIS1 has consistently been the gene with the highest effect size and functional studies suggest a disease-relevant downregulation. Therefore, haploinsufficiency of Meis1 could be the most potential system for modeling RLS in animals...
June 23, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28643183/dopaminergic-therapies-for-non-motor-symptoms-in-parkinson-s-disease
#7
REVIEW
Eva Schaeffer, Daniela Berg
Apart from the typical motor symptoms, Parkinson's disease is characterized by a wide range of different non-motor symptoms, which are highly prevalent in all stages of the disease and have an incisive influence on quality of life. Moreover, their treatment continues to be challenging. In this review, we critically summarize the evidence for the impact of dopaminergic therapies on non-motor symptoms in Parkinson's disease. We performed a PubMed search to identify relevant clinical studies that investigated the response of non-motor symptoms to dopaminergic therapy...
June 22, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28639878/exploring-the-phenotype-in-mild-cognitive-impairment-to-aid-the-prediction-of-those-at-risk-of-transitioning-to-parkinson-disease-and-dementia-with-lewy-bodies
#8
Jennifer Y Y Szeto, Glenda M Halliday, Sharon L Naismith, Simon J G Lewis
To date, only limited research has concurrently investigated the presence of rapid eye movement sleep behavior disorder (RBD) and other features associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB) in people presenting with mild cognitive impairment (MCI). As a first step towards a longitudinal research project, the present study explored the relationships between MCI, RBD, and depression in 108 older adults who presented with subjective memory complaints but were not known to have a neurodegenerative condition...
July 2017: Journal of Geriatric Psychiatry and Neurology
https://www.readbyqxmd.com/read/28638211/psychogenic-blepharospasm-a-diagnostic-dilemma
#9
Soumitra DAS, Roopchand Pandrantil Sreedharan, Prasanth Sudhakaran Remadevi, Cheruvallil Velayudhan Saji
Blepharospasm is an uncontrolled spasmodic contraction of the orbicularis muscles of the eye resulting in an abnormal tic or twitch of eyes. It usually lasts for seconds to minutes but in severe cases eyes may be closed for hours. It may be essentially benign or secondary due to a lesion in basal ganglia, pyramidal tract, and trauma, local pathology in the eyes or drug induced. Here we are presenting a case of psychogenic blepharospasm. A 65 year old woman presented with a history of episodic inability of opening her eyes for the past 6 months...
December 25, 2016: Shanghai Archives of Psychiatry
https://www.readbyqxmd.com/read/28638208/eye-movement-indices-in-the-study-of-depressive-disorder
#10
Yu Li, Yangyang Xu, Mengqing Xia, Tianhong Zhang, Junjie Wang, Xu Liu, Yongguang He, Jijun Wang
BACKGROUND: Impaired cognition is one of the most common core symptoms of depressive disorder. Eye movement testing mainly reflects patients' cognitive functions, such as cognition, memory, attention, recognition, and recall. This type of testing has great potential to improve theories related to cognitive functioning in depressive episodes as well as potential in its clinical application. AIMS: This study investigated whether eye movement indices of patients with unmedicated depressive disorder were abnormal or not, as well as the relationship between these indices and mental symptoms...
December 25, 2016: Shanghai Archives of Psychiatry
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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