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Functional movement disorder

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https://www.readbyqxmd.com/read/28213879/arthrogryposis-multiplex-congenita-classification-diagnosis-perioperative-care-and-anesthesia
#1
REVIEW
Lulu Ma, Xuerong Yu
Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures. In addition to affected extremities, patients may also present microstomia, decreased temporomandibular joint mobility. Although the etiology of AMC is unclear, any factor that decreases fetal movement is responsible for AMC. Thus, accurate diagnosis and classification are crucial to the appropriate treatment of AMC. The development of ultrasound technology has enabled prenatal diagnosis. Very early treatment is favorable, and multidisciplinary treatment is necessary to improve the function of AMC patients...
February 17, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28212832/motor-dysfunction-and-alterations-in-glutathione-concentration-cholinesterase-activity-and-bdnf-expression-in-substantia-nigra-pars-compacta-in-rats-with-pedunculopontine-lesion
#2
Lisette Blanco-Lezcano, Javier Jimenez-Martin, Mei-Li Díaz-Hung, Esteban Alberti-Amador, Maylin Wong-Guerra, Ma Elena González-Fraguela, Bárbara Estupiñán-Díaz, Teresa Serrano-Sánchez, Liliana Francis-Turner, Susana Delgado-Ocaña, Yanier Núñez-Figueredo, Yamilé Vega-Hurtado, Isabel Fernández-Jiménez
Pedunculopontine nucleus (PPN) has been considered a critically important region in the regulation of some of the physiological functions that fail during the progression of Parkinson's disease (PD). In this paper, the effects of unilateral neurotoxic lesion of the PPN [through the injection of N-methyl-D-aspartate (NMDA) solution (concentration: 0.1 M; volume: 0.5 µL)] in motor execution and gait disorders and the changes in cellular and molecular indicators in rat nigral tissue were evaluated. The motor execution was assessed using the beam test (BT) and the gait disorders by footprint test...
February 14, 2017: Neuroscience
https://www.readbyqxmd.com/read/28205498/cognitive-control-learning-and-clinical-motor-ratings-are-most-highly-associated-with-basal-ganglia-brain-volumes-in-the-premanifest-huntington-s-disease-phenotype
#3
Maria B Misiura, Spencer Lourens, Vince D Calhoun, Jeffrey Long, Jeremy Bockholt, Hans Johnson, Ying Zhang, Jane S Paulsen, Jessica A Turner, Jingyu Liu, Betul Kara, Elizabeth Fall
OBJECTIVES: Huntington's disease (HD) is a debilitating genetic disorder characterized by motor, cognitive and psychiatric abnormalities associated with neuropathological decline. HD pathology is the result of an extended chain of CAG (cytosine, adenine, guanine) trinucleotide repetitions in the HTT gene. Clinical diagnosis of HD requires the presence of an otherwise unexplained extrapyramidal movement disorder in a participant at risk for HD. Over the past 15 years, evidence has shown that cognitive, psychiatric, and subtle motor dysfunction is evident decades before traditional motor diagnosis...
February 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28198698/a-role-for-cerebellum-in-the-hereditary-dystonia-dyt1
#4
Rachel Fremont, Ambika Tewari, Chantal Angueyra, Kamran Khodakhah
DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients, possibly due to differential development compensation between rodents and humans. To address this issue, torsinA was acutely knocked down in select brain regions of adult mice using shRNAs. TorsinA knockdown in the cerebellum, but not in the basal ganglia, was sufficient to induce dystonia...
February 15, 2017: ELife
https://www.readbyqxmd.com/read/28198506/inhibition-of-mitochondrial-calcium-uptake-1-in-drosophila-neurons
#5
P G M'Angale, B E Staveley
The mitochondrial calcium uptake 1 (MICU1) is a regulatory subunit of the mitochondrial calcium uniporter that plays an important role in calcium sensing. It contains two EF-hand domains that are well conserved across diverse species from protozoa to plants and metazoans. The loss of MICU1 function in mammals is attributed to several neurological disorders that involve movement dysfunction. The CG4495 gene in Drosophila melanogaster was identified as a putative homolog of MICU1 in the HomoloGene database of the National Centre for Biotechnology Information (NCBI)...
February 8, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28195385/practical-approaches-to-commencing-device-assisted-therapies-for-parkinson-s-disease-in-australia
#6
REVIEW
D R Williams, A H Evans, V S C Fung, M Hayes, R Iansek, T Kimber, J D O'Sullivan, C M Sue
BACKGROUND: In Australia 1% of individuals aged over 50 years have Parkinson's disease (PD). AIMS: Guidance for commencing device-assisted therapies (DATs) for PD in Australia was developed based on a review of European recommendations and their relevance to the local clinical setting. METHODS: An online survey and teleconference discussions were held by a group of eight local movement disorder experts to develop consensus. RESULTS: Referral to a movement disorder specialist and consideration of DAT is appropriate when motor fluctuations cause disability or reduced quality of life, response to treatment is inconsistent or motor fluctuations and dyskinesias require frequent treatment adjustment without apparent benefit and levodopa is required four or more times daily...
February 14, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28195358/parkinson-s-disease-and-parkinson-s-disease-medications-have-distinct-signatures-of-the-gut-microbiome
#7
Erin M Hill-Burns, Justine W Debelius, James T Morton, William T Wissemann, Matthew R Lewis, Zachary D Wallen, Shyamal D Peddada, Stewart A Factor, Eric Molho, Cyrus P Zabetian, Rob Knight, Haydeh Payami
BACKGROUND: There is mounting evidence for a connection between the gut and Parkinson's disease (PD). Dysbiosis of gut microbiota could explain several features of PD. OBJECTIVE: The objective of this study was to determine if PD involves dysbiosis of gut microbiome, disentangle effects of confounders, and identify candidate taxa and functional pathways to guide research. METHODS: A total of 197 PD cases and 130 controls were studied. Microbial composition was determined by 16S rRNA gene sequencing of DNA extracted from stool...
February 14, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28192369/synaptic-unc13a-protein-variant-causes-increased-neurotransmission-and-dyskinetic-movement-disorder
#8
Noa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, Nathaniel Calloway, Peter M van Hasselt, Katarzyna Pienkowska, Gijs van Haaften, Mieke M van Haelst, Ron van Empelen, Inge Cuppen, Heleen C van Teeseling, Annemieke M V Evelein, Jacob A Vorstman, Sven Thoms, Olaf Jahn, Karen J Duran, Glen R Monroe, Timothy A Ryan, Holger Taschenberger, Jeremy S Dittman, Jeong-Seop Rhee, Gepke Visser, Judith J Jans, Nils Brose
Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder, developmental delay, and autism. Using whole-exome sequencing, we have shown that this condition is associated with a rare, de novo Pro814Leu variant in the major human Munc13 paralog UNC13A (also known as Munc13-1)...
February 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28190729/a-functional-gradient-in-the-rodent-prefrontal-cortex-supports-behavioral-inhibition
#9
Stefanie Hardung, Robert Epple, Zoe Jäckel, David Eriksson, Cem Uran, Verena Senn, Lihi Gibor, Ofer Yizhar, Ilka Diester
The ability to plan and execute appropriately timed responses to external stimuli is based on a well-orchestrated balance between movement initiation and inhibition. In impulse control disorders involving the prefrontal cortex (PFC) [1], this balance is disturbed, emphasizing the critical role that PFC plays in appropriately timing actions [2-4]. Here, we employed optogenetic and electrophysiological techniques to systematically analyze the functional role of five key subareas of the rat medial PFC (mPFC) and orbitofrontal cortex (OFC) in action control [5-9]...
February 7, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28188914/connectivity-based-parcellation-reveals-distinct-cortico-striatal-connectivity-fingerprints-in-autism-spectrum-disorder
#10
Joshua H Balsters, Dante Mantini, Nicole Wenderoth
Autism Spectrum Disorder (ASD) has been associated with abnormal synaptic development causing a breakdown in functional connectivity. However, when measured at the macro scale using resting state fMRI, these alterations are subtle and often difficult to detect due to the large heterogeneity of the pathology. Recently, we outlined a novel approach for generating robust biomarkers of resting state functional magnetic resonance imaging (RS-fMRI) using connectivity based parcellation of gross morphological structures to improve single-subject reproducibility and generate more robust connectivity fingerprints...
February 7, 2017: NeuroImage
https://www.readbyqxmd.com/read/28186667/thalamocortical-dysconnectivity-in-paroxysmal-kinesigenic-dyskinesia-combining-functional-magnetic-resonance-imaging-and-diffusion-tensor-imaging
#11
Zhiliang Long, Qiang Xu, Huan-Huan Miao, Yang Yu, Mei-Ping Ding, Huafu Chen, Zhi-Rong Liu, Wei Liao
BACKGROUND: Paroxysmal kinesigenic dyskinesia is associated with macrostructural and microstructural abnormalities in the thalamus. OBJECTIVES: To examine functional and structural connectivity of thalamocortical networks in paroxysmal kinesigenic dyskinesia and to further investigate the effect of mutation of the proline-rich transmembrane protein 2 on thalamocortical networks. METHODS: Patients with paroxysmal kinesigenic dyskinesia (n = 20), subdivided into proline-rich transmembrane protein 2-mutated (n = 8) and nonmutated patients (n = 12) and healthy controls (n = 20) underwent resting-state functional MRI and diffusion imaging scan...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28186664/disruption-in-cerebellar-and-basal-ganglia-networks-during-a-visuospatial-task-in-cervical-dystonia
#12
Pavel Filip, Cécile Gallea, Stéphane Lehéricy, Eric Bertasi, Traian Popa, Radek Mareček, Ovidiu V Lungu, Tomáš Kašpárek, Jiří Vaníček, Martin Bareš
BACKGROUND: Although dystonia is traditionally conceptualized as a basal ganglia disorder, increasing interest has been directed at a different neural network node, the cerebellum, which may play a significant role in the pathophysiology of dystonia. Abnormal sensorimotor processing and disturbed motor schemes, possibly attributable to cerebellar changes, remain unclear. METHODS: We sought to characterize the extent of cerebellar dysfunction within the motor network using functional MRI activation analysis, connectivity analysis, and voxel-based morphometry in cervical dystonia patients (n = 25, 15 women, mean age 45...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28186662/blepharospasm-40-years-later
#13
REVIEW
Giovanni Defazio, Mark Hallett, Hyder A Jinnah, Antonella Conte, Alfredo Berardelli
Forty years ago, C.D. Marsden proposed that blepharospasm should be considered a form of adult-onset focal dystonia. In the present paper, we provide a comprehensive overview of the findings regarding blepharospasm reported in the past 40 years. Although prolonged spasms of the orbicularis oculi muscles remain the clinical hallmark of blepharospasm, patients with blepharospasm may be characterized by various types of involuntary activation of periocular muscles. In addition to motor features, blepharospasm patients may also have nonmotor manifestations, including psychiatric, mild cognitive, and sensory disturbances...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28185025/constipation-pathophysiology-and-current-therapeutic-approaches
#14
Amol Sharma, Satish Rao
Chronic constipation is a common, persistent condition affecting many patients worldwide, presenting significant economic burden and resulting in substantial healthcare utilization. In addition to infrequent bowel movements, the definition of constipation includes excessive straining, a sense of incomplete evacuation, failed or lengthy attempts to defecate, use of digital manoeuvres for evacuation of stool, abdominal bloating, and hard consistency of stools. After excluding secondary causes of constipation, chronic idiopathic or primary constipation can be classified as functional defecation disorder, slow-transit constipation (STC), and constipation-predominant irritable bowel syndrome (IBS-C)...
February 10, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28183377/impaired-awareness-of-motor-intention-in-functional-neurological-disorder-implications-for-voluntary-and-functional-movement
#15
K Baek, N Doñamayor, L S Morris, D Strelchuk, S Mitchell, Y Mikheenko, S Y Yeoh, W Phillips, M Zandi, A Jenaway, C Walsh, V Voon
BACKGROUND: Functional neurological disorders (FNDs), also known as conversion disorder, are unexplained neurological symptoms unrelated to a neurological cause. The disorder is common, yet poorly understood. The symptoms are experienced as involuntary but have similarities to voluntary processes. Here we studied intention awareness in FND. METHOD: A total of 26 FND patients and 25 healthy volunteers participated in this functional magnetic resonance study using Libet's clock...
February 10, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28181679/mechanism-of-motor-coordination-of-masseter-and-temporalis-muscles-for-increased-masticatory-efficiency-in-mice
#16
Tomoko Yoshimi, Yoshiyuki Koga, Aya Nakamura, Ayumi Fujishita, Haruka Kohara, Emi Moriuchi, Keiko Yoshimi, Chi-Yang Tsai, Noriaki Yoshida
The demand for the use of mice as animal models for elucidating the pathophysiologies and pathogeneses of oral motor disorders has been increasing in recent years, as more and more kinds of genetically modified mice that express functional disorders of the stomatognathic system become available. However, the fundamental characteristics of mouse jaw movements during mastication have yet to be fully elucidated. The purpose of this study was to investigate the roles of the masseter and temporalis muscles, and the mechanisms of motor coordination of these muscles for increasing masticatory efficiency in the closing phase in mice...
February 9, 2017: Journal of Oral Rehabilitation
https://www.readbyqxmd.com/read/28176009/dopamine-and-serotonin-modulation-of-motor-and-non-motor-functions-of-the-non-human-primate-striato-pallidal-circuits-in-normal-and-pathological-states
#17
REVIEW
Véronique Sgambato-Faure, Léon Tremblay
Thanks to the non-human primate (NHP), we have shown that the pharmacological disturbance of the anterior striatum or of external globus pallidus triggers a set of motivation and movement disorders, depending on the functional subterritory involved. One can, therefore, assume that the aberrant activity of the different subterritories of basal ganglia (BG) could lead to different behavioral disorders in neuropsychiatric disorders as Tourette's syndrome and Parkinson's disease. We are now addressing in the NHP the impact of modulating dopamine or serotonin within the BG on behavioral disorders...
February 7, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28168705/the-role-of-dentate-nuclei-in-human-oculomotor-control-insights-from-cerebrotendinous-xanthomatosis
#18
Francesca Rosini, Elena Pretegiani, Andrea Mignarri, Lance M Optican, Valeria Serchi, Nicola De Stefano, Marco Battaglini, Lucia Monti, Maria T Dotti, Antonio Federico, Alessandra Rufa
It is well known that the medial cerebellum controls saccadic speed and accuracy. In contrast, the role of the lateral cerebellum (cerebellar hemispheres and dentate nuclei, DN) is less understood. Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder due to mutations in CYP27A1, typically characterized by DN damage. CTX thus provides a unique opportunity to study DN in human oculomotor control. We analyzed horizontal and vertical visually-guided saccades and horizontal antisaccades of 19 CTX patients...
February 7, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28168008/protective-effect-of-antioxidants-on-neuronal-dysfunction-and-plasticity-in-huntington-s-disease
#19
REVIEW
Thirunavukkarasu Velusamy, Archana S Panneerselvam, Meera Purushottam, Muthuswamy Anusuyadevi, Pramod Kumar Pal, Sanjeev Jain, Musthafa Mohamed Essa, Gilles J Guillemin, Mahesh Kandasamy
Huntington's disease (HD) is characterised by movement disorders, cognitive impairments, and psychiatric problems. The abnormal generation of reactive oxygen species and the resulting oxidative stress-induced mitochondrial damage in neurons upon CAG mutations in the HTT gene have been hypothesized as the contributing factors of neurodegeneration in HD. The potential use of antioxidants against free radical toxicity has been an emerging field in the management of ageing and many neurodegenerative disorders. Neural stem cells derived adult neurogenesis represents the regenerative capacity of the adult brain...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28164375/pedunculopontine-network-dysfunction-in-parkinson-s-disease-with-postural-control-and-sleep-disorders
#20
Cecile Gallea, Claire Ewenczyk, Bertrand Degos, Marie-Laure Welter, David Grabli, Smaranda Leu-Semenescu, Romain Valabregue, Pierre Berroir, Lydia Yahia-Cherif, Eric Bertasi, Sara Fernandez-Vidal, Eric Bardinet, Emmanuel Roze, Habib Benali, Cyril Poupon, Chantal François, Isabelle Arnulf, Stéphane Lehéricy, Marie Vidailhet
BACKGROUND: The objective of this study was to investigate pedunculopontine nucleus network dysfunctions that mediate impaired postural control and sleep disorder in Parkinson's disease. METHODS: We examined (1) Parkinson's disease patients with impaired postural control and rapid eye movement sleep behavior disorder (further abbreviated as sleep disorder), (2) Parkinson's disease patients with sleep disorder only, (3) Parkinson's disease patients with neither impaired postural control nor sleep disorder, and (4) healthy volunteers...
February 6, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
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