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Ocular motor

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https://www.readbyqxmd.com/read/28194135/inaccurate-saccades-and-enhanced-vestibulo-ocular-reflex-suppression-during-combined-eye-head-movements-in-patients-with-chronic-neck-pain-possible-implications-for-cervical-vertigo
#1
Janine L Johnston, Pierre M Daye, Glen T D Thomson
BACKGROUND: The primate ocular motor system is designed to acquire peripheral targets of interest by coordinating visual, vestibular, and neck muscle activation signals. The vestibulo-ocular reflex (VOR) is greatly reduced at the onset of large eye-head (gaze) saccades and resumes before the end of the saccades to stabilize eye-in-orbit and ensure accurate target acquisition. Previous studies have relied on manipulating head movements in normal individuals to study VOR suppression and gaze kinematics...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28192036/using-acute-performance-on-a-comprehensive-neurocognitive-vestibular-and-ocular-motor-assessment-battery-to-predict-recovery-duration-after-sport-related-concussions
#2
Alicia M Sufrinko, Gregory F Marchetti, Paul E Cohen, R J Elbin, Valentina Re, Anthony P Kontos
BACKGROUND: A sport-related concussion (SRC) is a heterogeneous injury that requires a multifaceted and comprehensive approach for diagnosis and management, including symptom reports, vestibular/ocular motor assessments, and neurocognitive testing. PURPOSE: To determine which acute (eg, within 7 days) vestibular, ocular motor, neurocognitive, and symptom impairments predict the duration of recovery after an SRC. STUDY DESIGN: Cohort study (prognosis); Level of evidence, 2...
February 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28184211/disrupted-saccade-control-in-chronic-cerebral-injury-upper-motor-neuron-like-disinhibition-in-the-ocular-motor-system
#3
John-Ross Rizzo, Todd E Hudson, Andrew Abdou, Yvonne W Lui, Janet C Rucker, Preeti Raghavan, Michael S Landy
Saccades rapidly direct the line of sight to targets of interest to make use of the high acuity foveal region of the retina. These fast eye movements are instrumental for scanning visual scenes, foveating targets, and, ultimately, serve to guide manual motor control, including eye-hand coordination. Cerebral injury has long been known to impair ocular motor control. Recently, it has been suggested that alterations in control may be useful as a marker for recovery. We measured eye movement control in a saccade task in subjects with chronic middle cerebral artery stroke with both cortical and substantial basal ganglia involvement and in healthy controls...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28148925/a-novel-mutation-in-the-proteolytic-domain-of-lonp1-causes-atypical-codas-syndrome
#4
Takehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Atsuo Kikuchi, Akira Onuma, Shigeo Kure, Ichizo Nishino, Chihiro Ohba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. It is characterized by intellectual disability, cataracts, delayed tooth eruption, malformed auricles and skeletal abnormalities. We performed whole-exome sequencing on a 12-year-old Japanese male with severe intellectual disability, congenital bilateral cataracts, spasticity, hypotonia with motor regression and progressive cerebellar atrophy with hyperintensity of the cerebellar cortex on T2-weighted images...
February 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28147417/neurologic-prognostication-neurologic-examination-and-current-guidelines
#5
Claudio Sandroni, Sonia D'Arrigo
Clinical examination is paramount for prognostication in patients who are comatose after resuscitation from cardiac arrest. At 72 hours from recovery of spontaneous circulation (ROSC), an absent or extensor motor response to pain (M ≤ 2) is a very sensitive, but not specific predictor of poor neurologic outcome. Bilaterally absent pupillary or corneal reflexes are less sensitive, but highly specific predictors. Besides the clinical examination, investigations such as somatosensory evoked potentials (SSEPs), electroencephalography (EEG), blood levels of neuron-specific enolase (NSE), or imaging studies can be used for neuroprognostication...
February 2017: Seminars in Neurology
https://www.readbyqxmd.com/read/28139025/a-de-novo-splice-site-mutation-in-cask-causes-fg-syndrome-4-and-congenital-nystagmus
#6
P Dunn, G P Prigatano, S Szelinger, J Roth, A L Siniard, A M Claasen, R F Richholt, M De Both, J J Corneveaux, A M Moskowitz, C Balak, I S Piras, M Russell, A L Courtright, N Belnap, S Rangasamy, K Ramsey, J M Opitz, D W Craig, V Narayanan, M J Huentelman, I Schrauwen
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. Here we present a patient with a de novo carboxyl-terminus splice site mutation in CASK (c.2521-2A>G) and clinical features of the rare FG syndrome-4 (FGS4). We provide further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype. There is considerable variability in clinical phenotype among patients with a CASK mutation, even among variants predicted to have similar functionality...
January 31, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28137897/blood-brain-and-binocular-vision
#7
Egle Rostron, Mary Polly Dickerson, Gregory Heath
A man aged 51 years presented with sudden onset, horizontal, binocular, double vision and right facial weakness. Ocular motility examination demonstrated a right horizontal gaze palsy pattern in keeping with a one-and-a-half syndrome. Since this was associated with a concomitant, ipsilateral, lower motor neuron (LMN) facial (VIIth) cranial nerve palsy, he had acquired an eight-and-a-half syndrome. Diffusion-weighted MRI confirmed a small infarcted area in the pons of the brainstem which correlated with anatomical location of the horizontal gaze centre and VIIth cranial nerve fasciculus...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28130172/brain-specific-knockin-of-the-pathogenic-tubb5-e401k-allele-causes-defects-in-motor-coordination-and-prepulse-inhibition
#8
Martin W Breuss, Andi H Hansen, Lukas Landler, David A Keays
The generation, migration, and differentiation of neurons requires the functional integrity of the microtubule cytoskeleton. Mutations in the tubulin gene family are known to cause various neurological diseases including lissencephaly, ocular motor disorders, polymicrogyria and amyotrophic lateral sclerosis. We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. Here we present the characterization of a Tubb5 mouse model that allows for the conditional expression of the pathogenic E401K mutation...
January 25, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28104449/acute-neurologic-disease-in-porcine-rubulavirus-experimentally-infected-piglets
#9
Jenifer Herrera, Luis Gómez-Núñez, Rocío Lara-Romero, Fernando Diosdado, Atalo Martínez-Lara, Miguel Jasso, Humberto Ramírez-Mendoza, Armando Pérez-Torres, José Francisco Rivera-Benítez
The objective of this study was to evaluate the clinical disease, humoral response and viral distribution of recent Porcine rubulavirus (PorPV) isolates in experimentally infected pigs. Four, 6-piglet (5-days old) groups were employed (G1-84, G2-93, G3-147, and G4-T). Three viral strains were used for the experimental infection: the reference strain LPMV-1984 (Michoacán 1984) and two other strains isolated in 2013, one in Queretaro (Qro/93/2013) and the other in Michoacán (Mich/147/2013). Each strain was genetically characterized by amplification and sequencing of the gene encoding hemagglutinin-neuroamidase (HN)...
January 16, 2017: Virus Research
https://www.readbyqxmd.com/read/28103481/motor-learning-requires-purkinje-cell-synaptic-potentiation-through-activation-of-ampa-receptor-subunit-glua3
#10
Nicolas Gutierrez-Castellanos, Carla M Da Silva-Matos, Kuikui Zhou, Cathrin B Canto, Maria C Renner, Linda M C Koene, Ozgecan Ozyildirim, Rolf Sprengel, Helmut W Kessels, Chris I De Zeeuw
Accumulating evidence indicates that cerebellar long-term potentiation (LTP) is necessary for procedural learning. However, little is known about its underlying molecular mechanisms. Whereas AMPA receptor (AMPAR) subunit rules for synaptic plasticity have been extensively studied in relation to declarative learning, it is unclear whether these rules apply to cerebellum-dependent motor learning. Here we show that LTP at the parallel-fiber-to-Purkinje-cell synapse and adaptation of the vestibulo-ocular reflex depend not on GluA1- but on GluA3-containing AMPARs...
January 18, 2017: Neuron
https://www.readbyqxmd.com/read/28102342/neural-activity-in-the-dorsal-medial-superior-temporal-area-of-monkeys-represents-retinal-error-during-adaptive-motor-learning
#11
Aya Takemura, Tomoyo Ofuji, Kenichiro Miura, Kenji Kawano
To adapt to variable environments, humans regulate their behavior by modulating gains in sensory-to-motor processing. In this study, we measured a simple eye movement, the ocular following response (OFR), in monkeys to study the neuronal basis of adaptive motor learning in the visuomotor processing stream. The medial superior temporal (MST) area of the cerebral cortex is a critical site for contextual gain modulation of the OFR. However, the role of MST neurons in adaptive gain modulation of the OFR remains unknown...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28061919/myasthenia-gravis-and-its-aeromedical-implications
#12
Tania Jagathesan, Michael D O'Brien
BACKGROUND: Myasthenia gravis is an autoimmune condition where antibodies form against the acetylcholine receptors at the neuromuscular junction, eventually causing damage to the motor end plate. The clinical features include muscle fatigability as well as ocular, bulbar, and limb weakness, which can have implications on the role of a pilot or air traffic controller. This retrospective study reviewed the United Kingdom Civil Aviation Authority (UK CAA) experience of myasthenia gravis...
January 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28059865/efferent-vision-therapy
#13
Janet C Rucker, Paul H Phillips
BACKGROUND: Traditional orthoptic therapy used by ophthalmologists, orthoptists, and optometrists is directed at improving visual acuity, ocular alignment, or both. For example, convergence exercises are used to treat convergence insufficiency (CI). However, other forms of "vision therapy" are directed at improving "visual processing and efficiency." The therapeutic regimen often entails repetitive ocular motor tasks performed during multiple office visits with a behavioral optometrist...
January 4, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28040606/steinert-syndrome-and-repercussions-in-dental-medicine
#14
REVIEW
Helena Baptista, Inês Lopes Cardoso
Steinert syndrome, also called myotonic dystrophy type 1, is a genetic disorder with autosomal dominant transmission characterized by myotonia and a multisystemic clinical picture that affects several tissues of the human body. The most common systemic phenotypes are: muscular, cardiac, respiratory, CNS, ocular, gynecological, digestive, orthopedical, as well as cognitive and psychological symptoms (cognitive decline). Muscles involved in voluntary movement are highly affected by myotonia especially distal muscles of upper limbs...
December 23, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/28033651/axons-get-ahead-insights-into-axon-guidance-and-congenital-cranial-dysinnervation-disorders
#15
REVIEW
John K Chilton, Sarah Guthrie
Cranial nerves innervate head muscles in a well-characterised and highly conserved pattern. Identification of genes responsible for human congenital disorders of these nerves, combined with the analysis of their role in axonal development in animal models has advanced understanding of how neuromuscular connectivity is established. Here we focus on the ocular motor system, as an instructive example of the success of this approach in unravelling the aetiology of human strabismus. The discovery that ocular motility disorders can arise from mutations in transcription factors, including HoxA1, HoxB1, MafB, Phox2A and Sall4, has revealed gene regulatory networks that pattern the brainstem and/or govern the differentiation of cranial motor neurons...
December 29, 2016: Developmental Neurobiology
https://www.readbyqxmd.com/read/28002403/xrcc1-mutation-is-associated-with-parp1-hyperactivation-and-cerebellar-ataxia
#16
Nicolas C Hoch, Hana Hanzlikova, Stuart L Rulten, Martine Tétreault, Emilia Komulainen, Limei Ju, Peter Hornyak, Zhihong Zeng, William Gittens, Stephanie A Rey, Kevin Staras, Grazia M S Mancini, Peter J McKinnon, Zhao-Qi Wang, Justin D Wagner, Grace Yoon, Keith W Caldecott
XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of protein ADP-ribosylation. This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP and implicates hyperactivation of poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia...
January 5, 2017: Nature
https://www.readbyqxmd.com/read/28001274/language-behavior-and-neurodevelopment-in-joubert-syndrome-a-case-report
#17
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Antonio Richieri-Costa, Célia Maria Giacheti
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27981586/gaze-evoked-nystagmus-induced-by-alcohol-intoxication
#18
Fausto Romano, Alexander A Tarnutzer, Dominik Straumann, Stefano Ramat, Giovanni Bertolini
KEY POINTS: The cerebellum is the core structure controlling gaze stability. Chronic cerebellar diseases and acute alcohol intoxication affect cerebellar function, inducing, among others, gaze instability as gaze-evoked nystagmus. Gaze-evoked nystagmus is characterized by increased centripetal eye-drift. It is used as an important diagnostic sign for patients with cerebellar degeneration and to assess the 'driving while intoxicated' condition. We quantified the effect of alcohol on gaze-holding using an approach allowing, for the first time, the comparison of deficits induced by alcohol intoxication and cerebellar degeneration...
December 16, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27928382/isolated-fourth-nerve-palsy-in-tuberculous-meningitis
#19
María García-Zamora, Hortensia Sánchez-Tocino, Ana Villanueva-Gómez, José Miguel Angles-Deza, Elena Pérez-Gutierrez
Tuberculous meningitis is a type of subacute meningitis and like other intracranial processes can compromise ocular motor nerves, causing palsies. Trochlear nerve is an unusual isolated manifestation in this type of pathology. The authors report a 5-year-old boy presented in their clinic with a trochlear nerve palsy as unique neurological manifestation of tuberculous meningitis. Treatment with complete anti-tuberculous therapy and botulinum A toxin was needed to get the complete resolution of the nerve palsy...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27903814/blink-associated-contralateral-eccentric-saccades-as-a-rare-sign-of-unilateral-brain-injury
#20
Ilaria Zivi, Eugenio Bertelli, Giacinta Bilotti, Ignazio Alessandro Clemente, Leopold Saltuari, Giuseppe Frazzitta
OBJECTIVE: To describe a rare sign of unilateral brain injury as a form of unwanted blink-associated contralateral eccentric saccades. METHODS: A 62-year-old patient who underwent an ischemic stroke affecting the entire right middle cerebral artery territory came to our attention 1 year after stroke, manifesting with transient contralateral conjugate gaze deviations associated with spontaneous blinking. We complemented the regular neurologic evaluation with brain MRI, study of evoked potentials, electroneurography of the facial nerve, and infrared video-oculoscopy...
January 10, 2017: Neurology
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