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https://www.readbyqxmd.com/read/28346865/repetitive-transcranial-magnetic-stimulation-for-the-treatment-of-executive-function-deficits-in-autism-spectrum-disorder-clinical-trial-approach
#1
Stephanie H Ameis, Zafiris J Daskalakis, Daniel M Blumberger, Pushpal Desarkar, Irene Drmic, Donald J Mabbott, Meng-Chuan Lai, Paul E Croarkin, Peter Szatmari
OBJECTIVE: Executive function (EF) deficits in patients with autism spectrum disorder (ASD) are ubiquitous and understudied. Further, there are no effective, neuroscience-based treatments to address this impairing feature of ASD. Repetitive transcranial magnetic stimulation (rTMS) has demonstrated promise in addressing EF deficits in adult neuropsychiatric disorders. This article will outline the design of a novel randomized-controlled trial of bilateral, 20 Hz, rTMS applied to the dorsolateral prefrontal cortex (DLPFC) for treatment of EF deficits in ASD that is currently ongoing...
March 27, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28346224/mutant-%C3%AE-2-chimaerin-signals-via-bidirectional-ephrin-pathways-in-duane-retraction-syndrome
#2
Alicia A Nugent, Jong G Park, Yan Wei, Alan P Tenney, Nicole M Gilette, Michelle M DeLisle, Wai-Man Chan, Long Cheng, Elizabeth C Engle
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled abducens nerve bundles did not reach the orbit, resulting in secondary aberrant misinnervation of the lateral rectus muscle by the oculomotor nerve...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28345787/non-motor-symptoms-and-quality-of-life-in-subjects-with-mild-parkinsonian-signs
#3
J Prasuhn, L Piskol, E-J Vollstedt, J Graf, A Schmidt, V Tadic, S Tunc, J Hampf, E Warrlich, C Bibergeil, J Hagenah, C Klein, M Kasten, N Brüggemann
BACKGROUND: Mild parkinsonian signs (MPS) are frequent in the elderly population and associated with the presence of risk markers for Parkinson's disease (PD). Both MPS and non-motor signs may be present in prodromal PD and may significantly impair quality of life (QoL). OBJECTIVE: To disentangle the contribution of motor impairment and extra-motor manifestations to QoL in subjects with MPS (n=63), manifest PD (n=69), disorders with motor symptoms due to non-neurodegenerative diseases (n=213) and healthy controls (n=258)...
March 27, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28345011/cross-cultural-differences-of-the-non-motor-symptoms-studied-by-the-traditional-chinese-version-of-the-international-parkinson-and-movement-disorder-society-unified-parkinson-s-disease-rating-scale
#4
Rwei-Ling Yu, Ruey-Meei Wu, Anne Y Y Chan, Vincent Mok, Yih-Ru Wu, Barbara C Tilley, Sheng Luo, Lu Wang, Nancy R LaPelle, Glenn T Stebbins, Christopher G Goetz
BACKGROUND: Given the importance of ethnic differences in the evaluation of various aspects of symptoms in patients with Parkinson's disease (PD), we present the formal procedure for completing the traditional Chinese translation of the International and Parkinson and Movement Disorder Society/UPDRS (MDS-UPDRS) and highlight the discrepancy in nonmotor symptoms (NMS) between patients in Eastern and Western countries. METHODS: A total of 350 native Chinese-speaking PD patients were recruited from multiple hospitals in Eastern countries; they completed the MDS-UPDRS...
January 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28344997/simple-derivation-of-spinal-motor-neurons-from-escs-ipscs-using-sendai-virus-vectors
#5
Kazuya Goto, Keiko Imamura, Kenichi Komatsu, Kohnosuke Mitani, Kazuhiro Aiba, Norio Nakatsuji, Makoto Inoue, Akihiro Kawata, Hirofumi Yamashita, Ryosuke Takahashi, Haruhisa Inoue
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal degenerative disorder of motor neurons (MNs). Embryonic stem cells (ESCs)/induced pluripotent stem cells (iPSCs) now help us to understand the pathomechanisms of ALS via disease modeling. Various methods to differentiate ESCs/iPSCs into MNs by the addition of signaling molecules have been reported. However, classical methods require multiple steps, and newer simple methods using the transduction of transcription factors run the risk of genomic integration of the vector genes...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28344044/impairments-of-motor-function-among-children-with-a-familial-risk-of-schizophrenia-or-bipolar-disorder-at-7-years-old-in-denmark-an-observational-cohort-study
#6
Birgitte Klee Burton, Anne A E Thorup, Jens Richardt Jepsen, Gry Poulsen, Ditte Ellersgaard, Katrine S Spang, Camilla Jerlang Christiani, Nicoline Hemager, Ditte Gantriis, Aja Greve, Ole Mors, Merete Nordentoft, Kerstin Jessica Plessen
BACKGROUND: Owing to the genetic overlap between schizophrenia and bipolar disorder, we aimed to assess domain-specific motor aberrations and disorder specificity among 7-year-old children with a familial risk of schizophrenia or bipolar disorder by comparing children in familial risk groups with each other and with children not in these risk groups. METHODS: In the Danish High Risk and Resilience Study, we established a cohort of 7-year-old children with no, one, or two parents with schizophrenia or bipolar disorder in Denmark between Jan 1, 2013, and Jan 31, 2016...
March 23, 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/28343865/regulatory-role-of-rna-chaperone-tdp-43-for-rna-misfolding-and-repeat-associated-translation-in-sca31
#7
Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta, Yoshiaki Furukawa, Takanori Yokota, Keiji Wada, J Paul Taylor, Christopher E Pearson, Nicolas Charlet-Berguerand, Hidehiro Mizusawa, Yoshitaka Nagai, Kinya Ishikawa
Microsatellite expansion disorders are pathologically characterized by RNA foci formation and repeat-associated non-AUG (RAN) translation. However, their underlying pathomechanisms and regulation of RAN translation remain unknown. We report that expression of expanded UGGAA (UGGAAexp) repeats, responsible for spinocerebellar ataxia type 31 (SCA31) in Drosophila, causes neurodegeneration accompanied by accumulation of UGGAAexp RNA foci and translation of repeat-associated pentapeptide repeat (PPR) proteins, consistent with observations in SCA31 patient brains...
March 18, 2017: Neuron
https://www.readbyqxmd.com/read/28343366/motor-learning-in-animal-models-of-parkinson-s-disease-aberrant-synaptic-plasticity-in-the-motor-cortex
#8
REVIEW
Tonghui Xu, Shaofang Wang, Rupa R Lalchandani, Jun B Ding
In Parkinson's disease (PD), dopamine depletion causes major changes in the brain, resulting in the typical cardinal motor features of the disease. PD neuropathology has been restricted to postmortem examinations, which are limited to only a single time of PD progression. Models of PD in which dopamine tone in the brain is chemically or physically disrupted are valuable tools in understanding the mechanisms of the disease. The basal ganglia have been well studied in the context of PD, and circuit changes in response to dopamine loss have been linked to the motor dysfunctions in PD...
March 25, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28343195/research-of-the-protection-actions-of-derived-2-oxoindole-in-acute-stress
#9
Ruslan V Lutsenko, Andrei V Vakhnenko, Elena V Vlasova
INTRODUCTION: Correction of pathological anxiety and stress level of frustration leads to the development of new anxiolytics, notably including derivatives of 2-oksoyndolyn- 3-hlyoksylic acid. The aim of work - to study the effect of 2-oksyindolin-3-hlyoksylic acid on emotional and behavioral reactions of rats subjected to behavioral stress tests of different averiability. MATERIALS AND METHODS: In experiments on 150 white mature male rats Wistar investigated the effects of 2-oksoindolin (2-hydroxy-N-naphthalene-1-yl-2-(2-hydroxy-1,2- dihydro-indole-3-ylidene)-acetamide) with laboratory codes 18 when intraperitoneally administered to acute immobilization stress on Sel'ye on emotional and behavioral responses of animals to test «open field», «a raised cross maze» and test «conflict behavior» (option Vogel)...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28343142/circuit-mechanisms-of-sleepiness-and-cataplexy-in-narcolepsy
#10
REVIEW
Sara Pintwala, John Peever
Narcolepsy is a debilitating sleep disorder caused by loss of orexin neurons in the lateral hypothalamus. Excessive daytime sleepiness and cataplexy are the major complaints in narcolepsy, and are associated with impaired quality of life. Although it is unclear how orexin loss causes sleepiness and cataplexy, animal models have been instrumental in identifying the neurobiological underpinnings of narcolepsy because they reliably recapitulate disease symptoms. Current evidence indicates that orexin cell loss causes sleepiness and cataplexy by destabilizing the ability of the circuits that initiate and sustain normal levels of arousal and motor activity...
March 23, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28342748/rnai-of-arcrna-hsr%C3%AF-affects-sub-cellular-localization-of-drosophila-fus-to-drive-neurodiseases
#11
Luca Lo Piccolo, Masamitsu Yamaguchi
Defective RNA metabolism is common pathogenic mechanisms involved in neurological disorders. Indeed, a conspicuous feature of some neurodegenerative diseases is the loss of nuclear activities of RNA-binding proteins (RBPs) like Fused in sarcoma (FUS) and eventually, their accumulation in cytoplasmic proteinaceous inclusions. Long non-coding RNAs (lncRNAs) are emerging as important regulators of tissue physiology and disease processes, including neurological disorders. A subset of these lncRNAs is the core of nuclear bodies (NBs), which are the sites of RNA processing and sequestration of specific ribonucleoproteins (RNPs) complexes...
March 22, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28342444/acid-ceramidase-deficiency-in-mice-results-in-a-broad-range-of-central-nervous-system-abnormalities
#12
Jakub Sikora, Shaalee Dworski, E Ellen Jones, Mustafa A Kamani, Matthew C Micsenyi, Tomo Sawada, Pauline Le Faouder, Justine Bertrand-Michel, Aude Dupuy, Christopher K Dunn, Ingrid Cong Yang Xuan, Josefina Casas, Gemma Fabrias, David R Hampson, Thierry Levade, Richard R Drake, Jeffrey A Medin, Steven U Walkley
Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated behavioral, biochemical, and cellular abnormalities in the central nervous system of Asah1(P361R/P361R) mice, which serve as a model of Farber disease. Behaviorally, the mutant mice had reduced voluntary locomotion and exploration, increased thigmotaxis, abnormal spectra of basic behavioral activities, impaired muscle grip strength, and defects in motor coordination...
April 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28340569/an-immunohistochemical-enzymatic-and-behavioral-study-of-cd157-bst-1-as-a-neuroregulator
#13
Haruhiro Higashida, Mingkun Liang, Toru Yoshihara, Shirin Akther, Azam Fakhrul, Cherepanov Stanislav, Tae-Sik Nam, Uh-Hyun Kim, Satoka Kasai, Tomoko Nishimura, Naila Al Mahmuda, Shigeru Yokoyama, Katsuhiko Ishihara, Maria Gerasimenko, Alla Salmina, Jing Zhong, Takahiro Tsuji, Chiharu Tsuji, Olga Lopatina
BACKGROUND: Recent rodent and human studies provide evidence in support of the fact that CD157, well known as bone marrow stromal cell antigen-1 (BST-1) and a risk factor in Parkinson's disease, also meaningfully acts in the brain as a neuroregulator and affects social behaviors. It has been shown that social behaviors are impaired in CD157 knockout mice without severe motor dysfunction and that CD157/BST1 gene single nucleotide polymorphisms are associated with autism spectrum disorder in humans...
March 24, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/28340445/an-updated-meta-analysis-short-term-therapeutic-effects-of-repeated-transcranial-magnetic-stimulation-in-treating-obsessive-compulsive-disorder
#14
REVIEW
Dong-Dong Zhou, Wo Wang, Gao-Mao Wang, Da-Qi Li, Li Kuang
BACKGROUND: This study was conducted to evaluate the short-term therapeutic effects of using repeated transcranial magnetic stimulation (rTMS) to treat obsessive-compulsive disorder (OCD) and to examine potential influencing factors. METHOD: We searched the PubMed, EMBASE, CENTRAL, Wanfang, CNKI, and Sinomed databases on September 18, 2016 and reviewed the references of previous meta-analyses. Sham-controlled, randomized clinical trials using rTMS to treat OCD were included...
March 18, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28339607/gross-motor-trajectories-during-the-first-year-of-life-for-preterm-infants-with-very-low-birth-weight
#15
Yu-Han Su, Suh-Fang Jeng, Wu-Shiun Hsieh, Yu-Kang Tu, Yen-Tzu Wu, Li-Chiou Chen
Background.: Early identification of motor dysfunction in very-low-birth-weight (VLBW) preterm infants is important in order to provide early intervention. Objective.: This study was to examine the motor trajectories of VLBW preterm infants during their first year of life and to investigate the predictive ability and influencing factors of the trajectories. Design and Methods.: A total of 342 VLBW preterm infants were prospectively assessed for motor development by the Alberta Infant Motor Scales at 4, 6, 9 and 12 months and for developmental outcomes using the Bayley Scales of Infant and Toddler Development- second edition at 24 months...
February 4, 2017: Physical Therapy
https://www.readbyqxmd.com/read/28339403/dopamine-transporter-imaging-has-no-impact-on-functional-outcomes-in-de-novo-probable-parkinson-s-disease
#16
Patrick T Hickey, Maragatha Kuchibhatla, Burton Scott, Lisa Gauger, Mark A Stacy
BACKGROUND: Parkinson's disease (PD) is among the most prevalent neurodegenerative conditions. While motor and non-motor aspects of this disease have been well characterized, no objective biomarker exists to support an accurate clinical diagnosis. However, newer imaging techniques, including [123I]-FP-CIT (DaTSCAN), have demonstrated utility in differentiating between PD and non-neurodegenerative tremor disorders. OBJECTIVE: DaTSCAN has been primarily investigated in situations where diagnostic confusion exists, and in these instances has been shown to significantly impact clinical management...
March 20, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28339140/acquisition-of-voice-onset-time-in-toddlers-at-high-and-low-risk-for-autism-spectrum-disorder
#17
Karen Chenausky, Helen Tager-Flusberg
Although language delay is common in autism spectrum disorder (ASD), research is equivocal on whether speech development is affected. We used acoustic methods to investigate the existence of sub-perceptual differences in the speech of toddlers who developed ASD. Development of the distinction between b and p was prospectively tracked in 22 toddlers at low risk for ASD (LRC), 22 at high risk for ASD without ASD (HRA-), and 11 at high risk for ASD who were diagnosed with ASD at 36 months (HRA+). Voice onset time (VOT), the main acoustic difference between b and p, was measured from spontaneously produced words at 18, 24, and 36 months...
March 24, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28338267/disrupted-intrinsic-connectivity-of-the-periaqueductal-gray-in-patients-with-functional-dyspepsia-a-resting-state-fmri-study
#18
P Liu, G Wang, Y Liu, F Zeng, D Lin, X Yang, F Liang, V D Calhoun, W Qin
BACKGROUND: Functional dyspepsia (FD) is a common functional gastrointestinal disorder. Accumulating evidence suggests the crucial role of central nervous system in the development and maintenance of FD. In particular, periaqueductal gray (PAG) has demonstrated an important role in modulation of pain and emotion, which may be related to FD. However, the study of the PAG in FD is still limited. This study aimed to assess intrinsic connectivity of the PAG in FD patients. METHODS: Resting-state functional magnetic imaging (fMRI) data were collected from 66 FD patients and 42 healthy controls (HCs)...
March 24, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28337694/the-posterior-fossa-and-foreign-accent-syndrome-report-of-two-new-cases-and-review-of-the-literature
#19
Stefanie Keulen, Peter Mariën, Kim van Dun, Roelien Bastiaanse, Mario Manto, Jo Verhoeven
Foreign accent syndrome is a rare motor speech disorder that causes patients to speak their language with a non-native accent. In the neurogenic condition, the disorder develops after lesions in the language dominant hemisphere, often affecting Broca's area, the insula, the supplementary motor area and the primary motor cortex. Here, we present two new cases of FAS after posterior fossa lesions. The first case is a 44-year-old, right-handed, Dutch-speaking man who suffered motor speech disturbances and a left hemiplegia after a pontine infarction...
March 23, 2017: Cerebellum
https://www.readbyqxmd.com/read/28336814/airway-smooth-muscle-dysfunction-in-pompe-gaa-mice
#20
Allison M Keeler, Donghai Liu, Marina Zieger, Lang Xiong, Jeffrey Salemi, Karl Bellve, Barry J Byrne, David D Fuller, Ronghua ZhuGe, Mai K ElMallah
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase (GAA) - an enzyme responsible for hydrolyzing lysosomal glycogen. Deficiency of GAA leads to systemic glycogen accumulation in the lysosomes of skeletal muscle, motor neurons and smooth muscle. Skeletal muscle and motor neuron pathology are known to contribute to respiratory insufficiency in Pompe disease, but the role of airway pathology has not been evaluated. Here we propose that GAA enzyme deficiency disrupts the function of the trachea and bronchi, and this lower airway pathology contributes to respiratory insufficiency in Pompe disease...
March 23, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
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