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https://www.readbyqxmd.com/read/29332008/leg-stereotypy-syndrome-phenomenology-and-prevalence
#1
Mitesh Lotia, Michele K York, Adriana M Strutt, Joseph Jankovic
OBJECTIVES: To describe the phenomenology and prevalence of leg stereotypy syndrome (LSS), characterised chiefly by repetitive, rhythmical, stereotypic leg movement, especially when sitting. METHODS: We sought to characterise LSS in two groups of subjects: (1) general population (GP) group, defined as individuals accompanying patients during their visits to Baylor College of Medicine Parkinson's Disease Center and Movement Disorders Clinic who are not genetically related to the patients; and (2) movement disorders (MD) group, composed of consecutive patients with diagnoses of restless legs syndrome, Parkinson's disease, Tourette syndrome and tardive dyskinesia...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29322350/monogenic-disorders-that-mimic-the-phenotype-of-rett-syndrome
#2
Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu
Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT. We performed a retrospective chart review on n = 319 patients who had undergone clinical whole exome sequencing (WES) for further etiological evaluation of neurodevelopmental diagnoses that remained unexplained despite extensive prior workup...
January 10, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29295924/motion-parallax-in-electric-sensing
#3
Federico Pedraja, Volker Hofmann, Kathleen M Lucas, Colleen Young, Jacob Engelmann, John E Lewis
A crucial step in forming spatial representations of the environment involves the estimation of relative distance. Active sampling through specific movements is considered essential for optimizing the sensory flow that enables the extraction of distance cues. However, in electric sensing, direct evidence for the generation and exploitation of sensory flow is lacking. Weakly electric fish rely on a self-generated electric field to navigate and capture prey in the dark. This electric sense provides a blurred representation of the environment, making the exquisite sensory abilities of electric fish enigmatic...
January 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29258560/a-clinical-series-using-intensive-neurorehabilitation-to-promote-functional-motor-and-cognitive-skills-in-three-girls-with-cask-mutation
#4
Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherjee
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29229708/neuronal-glutamate-transporters-control-dopaminergic-signaling-and-compulsive-behaviors
#5
Stefania Bellini, Kelsey E Fleming, Modhurika De, John P McCauley, Maurice A Petroccione, Lianna Y D'Brant, Artem Katchenko, SoYoung Kwon, Lindsey A Jones, Annalisa Scimemi
There is an ongoing debate on the contribution of the neuronal glutamate transporter EAAC1 to the onset of compulsive behaviors. Here we use behavioral, electrophysiological, molecular and viral approaches in male and female mice to identify the molecular and cellular mechanisms by which EAAC1 controls the execution of repeated motor behaviors. Our findings show that in the striatum, a brain region implicated with movement execution, EAAC1 limits group I metabotropic glutamate receptor (mGluRI) activation, facilitates D1 dopamine receptor (D1R) expression and ensures long-term synaptic plasticity...
December 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29213073/reversible-silencing-of-lumbar-spinal-interneurons-unmasks-a-task-specific-network-for-securing-hindlimb-alternation
#6
Amanda M Pocratsky, Darlene A Burke, Johnny R Morehouse, Jason E Beare, Amberly S Riegler, Pantelis Tsoulfas, Gregory J R States, Scott R Whittemore, David S K Magnuson
Neural circuitry in the lumbar spinal cord governs two principal features of locomotion, rhythm and pattern, which reflect intra- and interlimb movement. These features are functionally organized into a hierarchy that precisely controls stepping in a stereotypic, speed-dependent fashion. Here, we show that a specific component of the locomotor pattern can be independently manipulated. Silencing spinal L2 interneurons that project to L5 selectively disrupts hindlimb alternation allowing a continuum of walking to hopping to emerge from the otherwise intact network...
December 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/29197168/dissociation-between-executed-and-imagined-bimanual-movements-in-autism-spectrum-conditions
#7
Alessandro Piedimonte, Massimiliano Conson, Alessandro Frolli, Stefania Bari, Francesco Della Gatta, Marco Rabuffetti, Roberto Keller, Anna Berti, Francesca Garbarini
Autism spectrum conditions (ASC) are characterized by social-communicative deficits and repetitive stereotyped behaviors. Altered motor coordination is also observed and a dysfunction of motor imagery has been recently reported on implicit tasks. However, no information on explicit motor imagery abilities is available in ASC. Here, we employed a spatial bimanual task to concurrently assess motor coordination and explicit motor imagery in autism. A secondary objective of the study was to evaluate these abilities across two populations of ASC, namely adolescents and adults with ASC...
December 1, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29182659/fractal-analyses-reveal-independent-complexity-and-predictability-of-gait
#8
Frédéric Dierick, Anne-Laure Nivard, Olivier White, Fabien Buisseret
Locomotion is a natural task that has been assessed for decades and used as a proxy to highlight impairments of various origins. So far, most studies adopted classical linear analyses of spatio-temporal gait parameters. Here, we use more advanced, yet not less practical, non-linear techniques to analyse gait time series of healthy subjects. We aimed at finding more sensitive indexes related to spatio-temporal gait parameters than those previously used, with the hope to better identify abnormal locomotion. We analysed large-scale stride interval time series and mean step width in 34 participants while altering walking direction (forward vs...
2017: PloS One
https://www.readbyqxmd.com/read/29164446/automated-detection-of-repetitive-motor-behaviors-as-an-outcome-measurement-in-intellectual-and-developmental-disabilities
#9
Kristin H Gilchrist, Meghan Hegarty-Craver, Robert B Christian, Sonia Grego, Ashley C Kies, Anne C Wheeler
Repetitive sensory motor behaviors are a direct target for clinical treatment and a potential treatment endpoint for individuals with intellectual or developmental disabilities. By removing the burden associated with video annotation or direct observation, automated detection of stereotypy would allow for longer term monitoring in ecologic settings. We report automated detection of common stereotypical motor movements using commercially available accelerometers affixed to the body and a generalizable detection algorithm...
November 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29146863/modeling-search-movements-of-an-insect-s-front-leg
#10
Tibor I Tóth, Eva Berg, Silvia Daun
Beside locomotion, search movements are another important type of motor activity of insects. They are very often performed by the front legs of the animals. They consist of cyclic stereotypical leg movements that can be modified by sensory signals. The details of the local organization of these movements have however not yet been studied. In this paper, we, using an appropriate variant of our existing one-leg model, present a scheme of how these searching movements might be organized and performed on the level of local neuromuscular control networks...
November 2017: Physiological Reports
https://www.readbyqxmd.com/read/29107320/walking-my-way-walker-gender-and-display-format-confounds-the-perception-of-specific-emotions
#11
Shaun Halovic, Christian Kroos
Previous evidence has shown that males and females display different gait kinematics which may influence the perception of emotions displayed through the same walking gait. We therefore investigated the influence of walker gender on the perception of happiness, sadness, anger and fear displayed through walking movements. Full-light (FL), point-light (PL) and synthetically modelled point-light walkers (SW) of both genders were shown to perceivers over three experiments. Additionally, gender ambiguous synthetic walkers were shown to control for the influence of form, gender stereotypes and idiosyncratic gait movements on emotional gait perception...
October 26, 2017: Human Movement Science
https://www.readbyqxmd.com/read/29097081/paraneoplastic-autoimmune-movement-disorders
#12
Thien Thien Lim
PURPOSE OF REVIEW: To provide an overview of paraneoplastic autoimmune disorders presenting with various movement disorders. RECENT FINDINGS: The spectrum of paraneoplastic autoimmune disorders has been expanding with the discovery of new antibodies against cell surface and intracellular antigens. Many of these paraneoplastic autoimmune disorders manifest as a form of movement disorder. With the discovery of new neuronal antibodies, an increasing number of idiopathic or neurodegenerative movement disorders are now being reclassified as immune-mediated movement disorders...
October 13, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29094380/context-and-perceptual-salience-influence-the-formation-of-novel-stereotypes-via-cumulative-cultural-evolution
#13
Jacqui Hutchison, Sheila J Cunningham, Gillian Slessor, James Urquhart, Kenny Smith, Douglas Martin
We use a transmission chain method to establish how context and category salience influence the formation of novel stereotypes through cumulative cultural evolution. We created novel alien targets by combining features from three category dimensions-color, movement, and shape-thereby creating social targets that were individually unique but that also shared category membership with other aliens (e.g., two aliens might be the same color and shape but move differently). At the start of the transmission chains each alien was randomly assigned attributes that described it (e...
November 2, 2017: Cognitive Science
https://www.readbyqxmd.com/read/29070031/17q23-2q23-3-de-novo-duplication-in-association-with-speech-and-language-disorder-learning-difficulties-incoordination-motor-skill-impairment-and-behavioral-disturbances-a-case-report
#14
Karen Wessel, Jehan Suleiman, Tamam E Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W El-Hattab
BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23...
October 25, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29053770/tourette-syndrome-a-disorder-of-the-social-decision-making-network
#15
Roger L Albin
Tourette syndrome is a common neurodevelopmental disorder defined by characteristic involuntary movements, tics, with both motor and phonic components. Tourette syndrome is usually conceptualized as a basal ganglia disorder, with an emphasis on striatal dysfunction. While considerable evidence is consistent with these concepts, imaging data suggest diffuse functional and structural abnormalities in Tourette syndrome brain. Tourette syndrome exhibits features that are difficult to explain solely based on basal ganglia circuit dysfunctions...
August 22, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29038946/cognitive-and-behavioral-disorders-in-parkinson-s-disease-an-update-ii-behavioral-disorders
#16
Luigi Trojano, Costanza Papagno
Patients with Parkinson's disease (PD) can experience several behavioral symptoms, such as apathy, agitation, hypersexuality, stereotypic movements, pathological gambling, abuse of antiparkinsonian drugs, and REM sleep behavioral disorders. Psychoses and hallucinations, depression and anxiety disorders, and difficulties in recognizing and experiencing emotions also impair behavior and can cause severe psychosocial problems in patients with PD. Symptoms can be present since early stages of the disease, sometimes even before the appearance of classical motor symptoms, likely in relation to dopamine depletion in basal ganglia and/or to dysfunctions of other neurotrasmitter systems, and others can develop later, in some cases in relation to dopaminergic treatment...
October 16, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29021593/a-coordinated-sequence-of-distinct-flagellar-waveforms-enables-a-sharp-flagellar-turn-mediated-by-squid-sperm-ph-taxis
#17
Tomohiro Iida, Yoko Iwata, Tatsuma Mohri, Shoji A Baba, Noritaka Hirohashi
Animal spermatozoa navigate by sensing ambient chemicals to reach the site of fertilization. Generally, such chemicals derive from the female reproductive organs or cells. Exceptionally, squid spermatozoa mutually release and perceive carbon dioxide to form clusters after ejaculation. We previously identified the pH-taxis by which each spermatozoon can execute a sharp turn, but how flagellar dynamics enable this movement remains unknown. Here, we show that initiation of the turn motion requires a swim down a steep proton gradient (a theoretical estimation of ≥0...
October 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29020061/catching-up-children-with-developmental-coordination-disorder-compared-to-healthy-children-before-and-after-sensorimotor-therapy
#18
COMPARATIVE STUDY
Mats Niklasson, Torsten Norlander, Irene Niklasson, Peder Rasmussen
The aims of the present study were to (a) compare healthy children in terms of sensorimotor maturity to untreated children diagnosed with developmental coordination disorder (DCD) and (b) compare healthy children to diagnosed children following completed treatment with sensorimotor therapy. Participants were 298 children, 196 boys and 102 girls, distributed into a Norm group of healthy children (n = 99) and a group of children diagnosed with DCD (n = 199) with a total mean age of 8.77 years (SD = 2.88). Participants in both groups were assessed on instruments aimed to detect sensorimotor deviations...
2017: PloS One
https://www.readbyqxmd.com/read/28988267/leg-length-in-relation-to-selected-ballet-performance-indicators
#19
C C Karpodini, M A Wyon, N Comoutos, Y Koutedakis
It is unclear whether the modern ballet body stereotype of long limbs is advantageous in dance performance. Therefore, we investigated the relationship between leg-length and selected dance movements representative of power, dexterity, and range of motion in ballet dancers at different competence levels. METHODS: The total of 10 recreational, 24 vocational, and 10 professional ballerinas volunteered. They were subjected to: a) lower limb-length measurements, b) power tests (vertical jump-sautés and unilateral countermovement jump-temps levé), c) dexterity tests (tendus and double battement frappes), and d) flexibility tests (lateral active and passive-développé à la seconde)...
September 2017: Medical Problems of Performing Artists
https://www.readbyqxmd.com/read/28971695/valbenazine-for-the-treatment-of-tardive-dyskinesia
#20
Thomas Müller
Chronic intake of typical neuroleptics or centrally acting dopamine receptor blocking antiemetics may cause onset of tardive syndromes. Various types exist. One of them is tardive dyskinesia, characterised by often stigmatising, purposeless, rapid, repetitive, stereotypic, involuntary movements of face, limbs or trunk. Effective symptomatic drug treatment options beyond application of tetrabenazine are rare. Tetrabenazine is usually administered three times daily due to the short half life of this agent. Areas covered: This narrative review discusses the value of valbenazine for the treatment of tardive dyskinesia as a therapeutic alternative to tetrabenazine...
October 12, 2017: Expert Review of Neurotherapeutics
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