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stereotyped movement

Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
Leandro G Franco, Carlos Henrique M Wilges, Daniel P Junior, Sofia A Cerejo, Lilian T Nishimura, Isabela P Bittar
OBJECTIVE: To evaluate the effects of ketamine continuous rate infusions (CRI) at two dose rates on cardiovascular function and serum creatine kinase MB isoenzyme (CK-MB) and troponin I in healthy conscious dogs. STUDY DESIGN: Experimental, prospective, crossover, randomized, blinded study. ANIMALS: Eight adult mixed-breed dogs, aged 6±1 years and weighing 19±8.6 kg (mean±standard deviation). METHODS: Dogs were administered an intravenous bolus of ketamine (0...
December 18, 2017: Veterinary Anaesthesia and Analgesia
Olivier White, Jean-Louis Thonnard, Philippe Lefèvre, Joachim Hermsdörfer
Humans have a remarkable ability to adjust the way they manipulate tools through a genuine regulation of grip force according to the task. However, rapid changes in the dynamical context may challenge this skill, as shown in many experimental approaches. Most experiments adopt perturbation paradigms that affect only one sensory modality. We hypothesize that very fast adaptation can occur if coherent information from multiple sensory modalities is provided to the central nervous system. Here, we test whether participants can switch between different and never experienced dynamical environments induced by centrifugation of the body...
2018: Frontiers in Physiology
Yongping Chai, Zhiwen Zhu, Guangshuo Ou
During C. elegans larval development, the Q neuroblasts produce their lineage by three rounds of divisions along with continuous cell migrations. Their neuronal progeny is dispersed from the pharynx to the anus. This in vivo system to study cell migration is appealing for several reasons. The lineage development is stereotyped; functional analysis and genomic screens are rendered easy and powerful thanks to powerful tools; transgenic manipulations and genome engineering are efficient and can be conveniently combined with live-cell imaging...
2018: Methods in Molecular Biology
Cengiz Pehlevan, Farhan Ali, Bence P Ölveczky
Temporally precise movement patterns underlie many motor skills and innate actions, yet the flexibility with which the timing of such stereotyped behaviors can be modified is poorly understood. To probe this, we induce adaptive changes to the temporal structure of birdsong. We find that the duration of specific song segments can be modified without affecting the timing in other parts of the song. We derive formal prescriptions for how neural networks can implement such flexible motor timing. We find that randomly connected recurrent networks, a common approximation for how neocortex is wired, do not generally conform to these, though certain implementations can approximate them...
March 6, 2018: Nature Communications
Ji Chen, Peter S Lum
BACKGROUND: Robotic devices for neurorehabilitation of movement impairments in persons with stroke have been studied extensively. However, the vast majority of these devices only allow practice of stereotyped components of simulated functional tasks in the clinic. Previously we developed SpringWear, a wearable, spring operated, upper extremity exoskeleton capable of assisting movements during real-life functional activities, potentially in the home. SpringWear assists shoulder flexion, elbow extension and forearm supination/pronation...
March 2, 2018: Journal of Neuroengineering and Rehabilitation
Katrina Y Choe, Carlos F Sanchez, Neil G Harris, Thomas S Otis, Paul J Mathews
Complex animal behavior is produced by dynamic interactions between discrete regions of the brain. As such, defining functional connections between brain regions is critical in gaining a full understanding of how the brain generates behavior. Evidence suggests that discrete regions of the cerebellar cortex functionally project to the forebrain, mediating long-range communication potentially important in motor and non-motor behaviors. However, the connectivity map remains largely incomplete owing to the challenge of driving both reliable and selective output from the cerebellar cortex, as well as the need for methods to detect region specific activation across the entire forebrain...
February 26, 2018: NeuroImage
Xiaorong Huang, Xiongbo Peng, Fei Xie, Wanying Mao, Hong Chen, Meng-Xiang Sun
During male gametogenesis in cereals, the generative cell undergoes a positioning process that parallels the dynamics of the central vacuole, which is believed to be associated with generative cell movement in the male gametophyte. However, the impact of the generative cell positioning and the central vacuole dynamics on male gametogenesis has remained poorly understood. Here, we report that OsGCD1 (GAMETE CELLS DEFECTIVE1) dysfunction influenced pollen development and disrupted pollen germination. Loss of function of OsGCD1 altered the central vacuole dynamics and the generative cell was mispositioned...
February 9, 2018: New Phytologist
Tiziana Granata, Sara Matricardi, Francesca Ragona, Elena Freri, Federica Zibordi, Francesca Andreetta, Simona Binelli, Nardo Nardocci
Anti-N-Methyl-d-aspartate-receptor (NMDAR) encephalitis is the most frequent autoimmune encephalitis in pediatric age. This retrospective observational study was aimed at describing the clinical characteristics of the disease in a cohort of children and teenagers. Eighteen patients (10 females and 8 males), with a median age of 12.4 years at symptom onset were enrolled. The clinical presentation of the disease was marked by neurological manifestations in 13 patients and by severe psychiatric and behavioral symptoms in 5...
January 26, 2018: European Journal of Paediatric Neurology: EJPN
Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report a Japanese girl with Rett-like symptoms of severe ID, hypotonia, refractory epilepsy, and stereotypical hand movement (hand tapping, flapping, and wringing) after the age of 1 year. Characteristically, she had cortical visual impairment. She had difficulty swallowing since the age of 4 years, and diminished activity was noticeable since the age of 12 years, suggesting neurodevelopmental regression...
January 26, 2018: Brain & Development
Jerome Aupy, Ika Noviawaty, Balu Krishnan, Piradee Suwankpakdee, Juan Bulacio, Jorge Gonzalez-Martinez, Imad Najm, Patrick Chauvel
OBJECTIVE: Oroalimentary automatisms (OAAs) resembling normal alimentary behavior are stereotyped complex movements that may occur during epileptic seizures. They are considered common clinical signs in temporal lobe seizures, but their anatomofunctional mechanisms are not established. We took the opportunity of presurgical intracerebral recordings to study the relations between the occurrence of OAAs and temporal/spatial features of ictal activities. METHODS: We retrospectively reviewed patients with medically intractable medial temporal lobe epilepsy who underwent stereoelectroencephalography (SEEG) at Cleveland Clinic between 2009 and 2016...
February 2, 2018: Epilepsia
Stéphane J Montuelle, Rachel Olson, Hannah Curtis, JoAnna Sidote, Susan H Williams
In mammals, chewing movements can be modified, or flexible, in response to changes in food properties. Variability between and within food in the temporal characteristics of chewing movements can impact chewing frequency and rhythmicity, which in turn may affect food breakdown, energy expenditure and tooth wear. Here, we compared total chewing cycle duration and intra-cycle phase durations in pigs chewing on three foods varying in toughness and stiffness: apples (low toughness, low stiffness), carrots (high toughness, low stiffness), and almonds (high toughness, high stiffness)...
January 29, 2018: Journal of Experimental Biology
(no author information available yet)
OBJECTIVE: Locomotion, rearing and grooming represent different forms of behaviour and motor activity in rats. In this study, changes in these activities were analysed in relation to impaired function of the nervous system by single and/or concomitant lesions representing an experimental model of the dual diagnosis. METHODS: 32 rats were divided into 4 groups of 8 rats: intact rats, rats with single lesion of peripheral nervous system (PNS) - Marcaine neuropathy, rats with single CNS lesion - cellular brain edema induced by water intoxication, and the concomitant lesions (combination of CNS and PNS lesion in one rat)...
December 25, 2017: Neuro Endocrinology Letters
Madison V Epperson, Michael E Haws, Shannon M Standridge, Donald L Gilbert
BACKGROUND: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome...
January 1, 2018: Journal of Child Neurology
Jenni M Karl, Jessica R Kuntz, Layne A Lenhart, Ian Q Whishaw
Prehension, the act of reaching to grasp an object, is central to the human experience. We use it to feed ourselves, groom ourselves, and manipulate objects and tools in our environment. Such behaviors are impaired by many sensorimotor disorders, yet our current understanding of their neural control is far from complete. Current technologies for investigating human reach-to-grasp movements often utilize motion tracking systems that can be expensive, require the attachment of markers or sensors to the hands, impede natural movement and sensory feedback, and provide kinematic output that can be difficult to interpret...
January 15, 2018: Journal of Visualized Experiments: JoVE
Anna B Ninsiima, Els Leye, Kristien Michielsen, Elizabeth Kemigisha, Viola N Nyakato, Gily Coene
Unequal power and gender norms expose adolescent girls to higher risks of HIV, early marriages, pregnancies and coerced sex. In Uganda, almost half of the girls below the age of 18 are already married or pregnant, which poses a danger to the lives of young girls. This study explores the social construction of gender norms from early childhood, and how it influences adolescents' agency. Contrary to the mainstream theory of agency, which focuses on the ability to make informed choices, adolescents' agency appears constrained by context-specific obstacles...
January 24, 2018: International Journal of Environmental Research and Public Health
Mukta Vaidya, Karthikeyan Balasubramanian, Joshua Southerland, Islam Badreldin, Ahmed Eleryan, Kelsey Shattuck, Suchin Gururangan, Marc W Slutzky, Leslie C Osborne, Andrew H Fagg, Karim G Oweiss, Nicholas G Hatsopoulos
The development of coordinated reach to grasp has been well-studied in infants and children (Kuhtz-Buschbeck, Stolze, Jöhnk, Boczek-Funcke, & Illert, 1998; von Hofsten, 1984a). However, the role of motor cortex during this development is unclear because it is difficult to study in humans. We took the approach using a brain-machine interface (BMI) paradigm in rhesus macaques with prior therapeutic amputations to examine the emergence of novel, coordinated reach-to-grasp. Previous research has shown that after amputation, the cortical area previously involved in the control of the lost limb undergoes reorganization (Qi, Stepniewska, & Kaas, 2000; Schieber & Deuel, 1997; Wu & Kaas, 1999), but prior BMI work has largely relied on finding neurons that already encode specific movement-related information...
December 13, 2017: Journal of Neurophysiology
Cícera Simoni da Silva, Rita de Cássia Gonçalves de Lima, Olusola Olalekan Elekofehinti, Yetunde Ogunbolude, Antonia Eliene Duarte, João Batista Teixeira Rocha, Irwin Rose Alencar de Menezes, Luiz Marivando Barros, Appolinaire Tsopmo, Kiven Erique Lukong, Jean Paul Kamdem
The effects of caffeine supplementation is well documented in conventional animal models, however the effects in the lobster cockroaches Nauphoeta cinerea have not been reported. Thus, we aimed to investigate the locomotor behavior and biochemical endpoints in the head of the nymphs of N. cinerea following 60 days exposure to food supplemented with 0, 0.5, 1.0, 2.5, 5.0 and 10.0 mg of caffeine/g of diet. The analysis of the locomotor behavior using the video-tracking software, Any-maze, for 12 min revealed that caffeine supplementation caused significant behavioral improvement...
January 12, 2018: Chemico-biological Interactions
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
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 2018: Neurogenetics
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