RESUMO
The evolution and development of the head have long captivated researchers due to the crucial role of the head as the gateway for sensory stimuli and the intricate structural complexity of the head. Although significant progress has been made in understanding head development in various vertebrate species, our knowledge of early human head ontogeny remains limited. Here, we used advanced whole-mount immunostaining and 3D imaging techniques to generate a comprehensive 3D cellular atlas of human head embryogenesis. We present detailed developmental series of diverse head tissues and cell types, including muscles, vasculature, cartilage, peripheral nerves, and exocrine glands. These datasets, accessible through a dedicated web interface, provide insights into human embryogenesis. We offer perspectives on the branching morphogenesis of human exocrine glands and unknown features of the development of neurovascular and skeletomuscular structures. These insights into human embryology have important implications for understanding craniofacial defects and neurological disorders and advancing diagnostic and therapeutic strategies.
Assuntos
Embrião de Mamíferos , Cabeça , Humanos , Morfogênese , Cabeça/crescimento & desenvolvimentoRESUMO
Reliable, noninvasive biomarkers that reveal the internal state of a subject are an invaluable tool for neurological diagnoses. Small fixational eye movements, called microsaccades, are a candidate biomarker thought to reflect a subject's focus of attention [Z. M. Hafed, J. J. Clark, VisionRes. 42, 2533-2545 (2002); R. Engbert, R. Kliegl, VisionRes. 43, 1035-1045 (2003)]. The linkage between the direction of microsaccades and attention has mainly been demonstrated using explicit and unambiguous attentional cues. However, the natural world is seldom predictable and rarely provides unambiguous information. Thus, a useful biomarker must be robust to such changes in environmental statistics. To determine how well microsaccades reveal visual-spatial attention across behavioral contexts, we analyzed these fixational eye movements in monkeys performing a conventional change detection task. The task included two stimulus locations and variable cue validities across blocks of trials. Subjects were adept at the task, showing precise and graded modulations of visual attention for subtle target changes and performing better and faster when the cue was more reliable [J. P. Mayo, J. H. R. Maunsell, J. Neurosci. 36, 5353 (2016)]. However, over tens of thousands of microsaccades, we found no difference in microsaccade direction between cued locations when cue variability was high nor between hit and miss trials. Instead, microsaccades were made toward the midpoint of the two target locations, not toward individual targets. Our results suggest that the direction of microsaccades should be interpreted with caution and may not be a reliable measure of covert spatial attention in more complex viewing conditions.
Assuntos
Fixação Ocular , Percepção Visual , Movimentos Sacádicos , Sinais (Psicologia) , Movimentos OcularesRESUMO
Sensorimotor transformation is the process of first sensing an object in the environment and then producing a movement in response to that stimulus. For visually guided saccades, neurons in the superior colliculus (SC) emit a burst of spikes to register the appearance of stimulus, and many of the same neurons discharge another burst to initiate the eye movement. We investigated whether the neural signatures of sensation and action in SC depend on context. Spiking activity along the dorsoventral axis was recorded with a laminar probe as Rhesus monkeys generated saccades to the same stimulus location in tasks that require either executive control to delay saccade onset until permission is granted or the production of an immediate response to a target whose onset is predictable. Using dimensionality reduction and discriminability methods, we show that the subspaces occupied during the visual and motor epochs were both distinct within each task and differentiable across tasks. Single-unit analyses, in contrast, show that the movement-related activity of SC neurons was not different between tasks. These results demonstrate that statistical features in neural activity of simultaneously recorded ensembles provide more insight than single neurons. They also indicate that cognitive processes associated with task requirements are multiplexed in SC population activity during both sensation and action and that downstream structures could use this activity to extract context. Additionally, the entire manifolds associated with sensory and motor responses, respectively, may be larger than the subspaces explored within a certain set of experiments.
Assuntos
Líquidos Corporais , Colículos Superiores , Animais , Movimentos Oculares , Neurônios , Macaca mulatta , SensaçãoRESUMO
Internal models are essential for the production of accurate movements. The accuracy of saccadic eye movements is thought to be mediated by an internal model of oculomotor mechanics encoded in the cerebellum. The cerebellum may also be part of a feedback loop that predicts the displacement of the eyes and compares it to the desired displacement in real time to ensure that saccades land on target. To investigate the role of the cerebellum in these two aspects of saccade production, we delivered saccade-triggered light pulses to channelrhodopsin-2-expressing Purkinje cells in the oculomotor vermis (OMV) of two male macaque monkeys. Light pulses delivered during the acceleration phase of ipsiversive saccades slowed the deceleration phase. The long latency of these effects and their scaling with light pulse duration are consistent with an integration of neural signals at or downstream of the stimulation site. In contrast, light pulses delivered during contraversive saccades reduced saccade velocity at short latency and were followed by a compensatory reacceleration which caused gaze to land on or near the target. We conclude that the contribution of the OMV to saccade production depends on saccade direction; the ipsilateral OMV is part of a forward model that predicts eye displacement, whereas the contralateral OMV is part of an inverse model that creates the force required to move the eyes with optimal peak velocity for the intended displacement.
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Optogenética , Movimentos Sacádicos , Animais , Masculino , Movimentos Oculares , Cerebelo/fisiologia , Macaca nemestrinaRESUMO
VEGF was initially discovered due to its angiogenic activity and therefore named "vascular endothelial growth factor." However, its more recently discovered neurotrophic activity may be evolutionarily more ancient. Our previous work showed that all the changes produced by axotomy on the firing activity and synaptic inputs of abducens motoneurons were completely restored after VEGF administration. Therefore, we hypothesized that the lack of VEGF delivered by retrograde transport from the periphery should also affect the physiology of otherwise intact abducens motoneurons. For VEGF retrograde blockade, we chronically applied a neutralizing VEGF antibody to the lateral rectus muscle. Recordings of extracellular single-unit activity and eye movements were made in alert cats before and after the application of the neutralizing antibody. Our data revealed that intact, noninjured abducens motoneurons retrogradely deprived of VEGF exhibited noticeable changes in their firing pattern. There is a general decrease in firing rate and a significant reduction in eye position and eye velocity sensitivity (i.e., a decrease in the tonic and phasic components of their discharge, respectively). Moreover, by means of confocal immunocytochemistry, motoneurons under VEGF blockade showed a marked reduction in the density of afferent synaptic terminals contacting with their cell bodies. Altogether, the present findings demonstrate that the lack of retrogradely delivered VEGF renders abducens motoneurons into an axotomy-like state. This indicates that VEGF is an essential retrograde factor for motoneuronal synaptic drive and discharge activity.
Assuntos
Movimentos Oculares , Neurônios Motores , Terminações Pré-Sinápticas , Fator A de Crescimento do Endotélio Vascular , Animais , Anticorpos Neutralizantes , Axotomia , Gatos , Movimentos Oculares/efeitos dos fármacos , Movimentos Oculares/fisiologia , Neurônios Motores/efeitos dos fármacos , Neurônios Motores/fisiologia , Músculos Oculomotores/efeitos dos fármacos , Músculos Oculomotores/fisiologia , Terminações Pré-Sinápticas/efeitos dos fármacos , Terminações Pré-Sinápticas/fisiologia , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Fator A de Crescimento do Endotélio Vascular/farmacologia , Fator A de Crescimento do Endotélio Vascular/fisiologiaRESUMO
Mutations in the SETX gene, which encodes Senataxin, are associated with the progressive neurodegenerative diseases ataxia with oculomotor apraxia 2 (AOA2) and amyotrophic lateral sclerosis 4 (ALS4). To identify the causal defect in AOA2, patient-derived cells and SETX knockouts (human and mouse) were analyzed using integrated genomic and transcriptomic approaches. A genome-wide increase in chromosome instability (gains and losses) within genes and at chromosome fragile sites was observed, resulting in changes to gene-expression profiles. Transcription stress near promoters correlated with high GCskew and the accumulation of R-loops at promoter-proximal regions, which localized with chromosomal regions where gains and losses were observed. In the absence of Senataxin, the Cockayne syndrome protein CSB was required for the recruitment of the transcription-coupled repair endonucleases (XPG and XPF) and RAD52 recombination protein to target and resolve transcription bubbles containing R-loops, leading to genomic instability. These results show that transcription stress is an important contributor to SETX mutation-associated chromosome fragility and AOA2.
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Instabilidade Cromossômica/genética , DNA Helicases/metabolismo , Enzimas Multifuncionais/metabolismo , RNA Helicases/metabolismo , Ataxias Espinocerebelares/congênito , Animais , Apraxias/genética , Ataxia/genética , Linhagem Celular , Ataxia Cerebelar/genética , DNA Helicases/genética , Reparo do DNA/genética , Perfilação da Expressão Gênica/métodos , Instabilidade Genômica/genética , Genômica/métodos , Humanos , Camundongos , Células-Tronco Embrionárias Murinas , Enzimas Multifuncionais/genética , Mutação/genética , Doenças Neurodegenerativas/genética , Cultura Primária de Células , Regiões Promotoras Genéticas/genética , RNA Helicases/genética , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/fisiopatologia , Transcriptoma/genéticaRESUMO
Sensorimotor transformation is the sequential process of registering a sensory signal in the environment and then responding with the relevant movement at an appropriate time. For visually guided eye movements, neural signatures in the form of spiking activity of neurons have been extensively studied along the dorsoventral axis of the superior colliculus (SC). In contrast, the local field potential (LFP), which represents the putative input to a region, remains largely unexplored in the SC. We therefore compared amplitude levels and onset times of both spike bursts and LFP modulations recorded simultaneously with a laminar probe along the dorsoventral axis of SC in 3 male monkeys performing the visually guided delayed saccade task. Both signals displayed a gradual transition from sensory activity in the superficial layers to a predominantly motor response in the deeper layers, although the transition from principally sensory to mostly motor response occurred â¼500 µm deeper for the LFP. For the sensory response, LFP modulation preceded spike burst onset by <5 ms in the superficial and intermediate layers and only when data were analyzed on a trial-by-trial basis. The motor burst in the spiking activity led LFP modulation by >25 ms in the deeper layers. The results reveal a fast and efficient input-output transformation between LFP modulation and spike burst in the visually responsive layers activity during sensation but not during action. The spiking pattern observed during the movement phase is likely dominated by intracollicular processing that is not captured in the LFP.SIGNIFICANCE STATEMENT What is the sequence of events between local field potential (LFP) modulation and spiking activity during sensorimotor transformation? A trial-by-trial analysis reveals that the LFP activity leads the spike burst in the superficial and intermediate layers of the superior colliculus during visual processing, while both trial-by-trial and the average analyses show that the spike burst leads the LFP modulation during movement generation. These results suggest an almost instantaneous LFP input, spike burst output transformation in the visually responsive layers of the superior colliculus when registering the stimulus. In contrast, substantial intracollicular processing likely results in a saccade-related spike burst that leads LFP modulation.
Assuntos
Movimentos Oculares , Colículos Superiores , Animais , Masculino , Colículos Superiores/fisiologia , Macaca mulatta , Movimentos Sacádicos , Sensação , Potenciais de Ação/fisiologiaRESUMO
Neurons in sensory and motor cortices tend to aggregate in clusters with similar functional properties. Within the primate dorsal ("where") pathway, an important interface between three-dimensional (3-D) visual processing and motor-related functions consists of two hierarchically organized areas: V3A and the caudal intraparietal (CIP) area. In these areas, 3-D visual information, choice-related activity, and saccade-related activity converge, often at the single-neuron level. Characterizing the clustering of functional properties in areas with mixed selectivity, such as these, may help reveal organizational principles that support sensorimotor transformations. Here we quantified the clustering of visual feature selectivity, choice-related activity, and saccade-related activity by performing correlational and parametric comparisons of the responses of well-isolated, simultaneously recorded neurons in macaque monkeys. Each functional domain showed statistically significant clustering in both areas. However, there were also domain-specific differences in the strength of clustering across the areas. Visual feature selectivity and saccade-related activity were more strongly clustered in V3A than in CIP. In contrast, choice-related activity was more strongly clustered in CIP than in V3A. These differences in clustering may reflect the areas' roles in sensorimotor processing. Stronger clustering of visual and saccade-related activity in V3A may reflect a greater role in within-domain processing, as opposed to cross-domain synthesis. In contrast, stronger clustering of choice-related activity in CIP may reflect a greater role in synthesizing information across functional domains to bridge perception and action.NEW & NOTEWORTHY The occipital and parietal cortices of macaque monkeys are bridged by hierarchically organized areas V3A and CIP. These areas support 3-D visual transformations, carry choice-related activity during 3-D perceptual tasks, and possess saccade-related activity. This study quantifies the functional clustering of neuronal response properties within V3A and CIP for each of these domains. The findings reveal domain-specific cross-area differences in clustering that may reflect the areas' roles in sensorimotor processing.
Assuntos
Movimentos Sacádicos , Percepção Visual , Animais , Macaca mulatta , Percepção Visual/fisiologia , Neurônios/fisiologia , Estimulação Luminosa/métodosRESUMO
Oculomotricity is a multidimensional domain characterised by a delicate interplay of anatomical structures and physiological processes. This manuscript meticulously dissects the nuances of this interplay, bringing to the fore the integral role of the extraocular muscles (EOMs) and their intricate relationship with the myriad orbital connective tissues as it harmoniously orchestrates binocular movements, ensuring synchronised and fluid visual tracking. Historically, the peripheral oculomotor apparatus was conceptualised as a rudimentary system predominantly driven by neural directives. While widely accepted, this perspective offered a limited view of the complexities inherent in ocular movement mechanics. The twentieth century heralded a paradigm shift in this understanding. With advances in anatomical research and imaging techniques, a much clearer picture of the gross anatomy of the EOMs emerged. This clarity challenged traditional viewpoints, suggesting that the inherent biomechanical properties of the EOMs, coupled with their associated tissue pulleys, play a pivotal role in dictating eye movement dynamics. Central to this revised understanding is the "arc of contact" paradigm. This concept delves deep into the mechanics of eye rotation, elucidating the significance of the point of contact between the EOMs and the eyeball. The arc of contact is not just a static anatomical feature; its length and orientation play a crucial role in determining the effective torque generated by a muscle, thereby influencing the amplitude and direction of eye rotation. The dynamic nature of this arc, influenced by the position and tension of the muscle pulleys, offers a more comprehensive model for understanding ocular kinematics. Previously overlooked in traditional models, muscle pulleys have now emerged as central players in the biomechanics of eye movement. These anatomical structures, formed by dense connective tissues, guide the paths of the EOMs, ensuring that their pulling angles remain optimal across a range of gaze directions. The non-linear paths resulting from these pulleys provide a more dynamic and intricate understanding of eye movement, challenging two-dimensional, linear models of orbital anatomy. The implications of these revelations extend beyond mere theoretical knowledge. The insights garnered from this research promise transformative potential in the realm of strabismus surgery. Recognising the pivotal role of muscle pulleys and the "arc of contact" paradigm allows for more precise surgical interventions, ensuring better post-operative outcomes and minimising the risk of complications. Surgical procedures that previously relied on basic mechanical principles now stand to benefit from a more nuanced understanding of the underlying anatomical and physiological dynamics. In conclusion, this manuscript serves as a testament to the ever-evolving nature of scientific knowledge. Challenging established norms and introducing fresh perspectives pave the way for more effective and informed clinical interventions in strabismus surgery.
Assuntos
Tecido Conjuntivo , Músculos Oculomotores , Órbita , Estrabismo , Humanos , Músculos Oculomotores/anatomia & histologia , Músculos Oculomotores/fisiologia , Estrabismo/cirurgia , Tecido Conjuntivo/anatomia & histologia , Tecido Conjuntivo/fisiologia , Órbita/anatomia & histologia , Movimentos Oculares/fisiologia , Fenômenos Biomecânicos/fisiologiaRESUMO
Characterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced examiner dependency, and sensitivity to subtle changes. To delineate the potential of quantitative oculomotor assessments as digital-motor outcome measures for clinical trials in ataxia, we searched MEDLINE for articles reporting on quantitative eye movement recordings in genetically confirmed or suspected hereditary ataxias, asking which paradigms are most promising for capturing disease progression and treatment response. Eighty-nine manuscripts identified reported on 1541 patients, including spinocerebellar ataxias (SCA2, n = 421), SCA3 (n = 268), SCA6 (n = 117), other SCAs (n = 97), Friedreich ataxia (FRDA, n = 178), Niemann-Pick disease type C (NPC, n = 57), and ataxia-telangiectasia (n = 85) as largest cohorts. Whereas most studies reported discriminatory power of oculomotor assessments in diagnostics, few explored their value for monitoring genotype-specific disease progression (n = 2; SCA2) or treatment response (n = 8; SCA2, FRDA, NPC, ataxia-telangiectasia, episodic-ataxia 4). Oculomotor parameters correlated with disease severity measures including clinical scores (n = 18 studies (SARA: n = 9)), chronological measures (e.g., age, disease duration, time-to-symptom onset; n = 17), genetic stratification (n = 9), and imaging measures of atrophy (n = 5). Recurrent correlations across many ataxias (SCA2/3/17, FRDA, NPC) suggest saccadic eye movements as potentially generic quantitative oculomotor outcome. Recommendation of other paradigms was limited by the scarcity of cross-validating correlations, except saccadic intrusions (FRDA), pursuit eye movements (SCA17), and quantitative head-impulse testing (SCA3/6). This work aids in understanding the current knowledge of quantitative oculomotor parameters in hereditary ataxias, and identifies gaps for validation as potential trial outcome measures in specific ataxia genotypes.
Assuntos
Ataxia Telangiectasia , Ataxia de Friedreich , Degenerações Espinocerebelares , Humanos , Movimentos Oculares , Ataxia , Genótipo , Progressão da DoençaRESUMO
In patients with cerebellar ataxia (CA), symptoms related to oculomotor dysfunction significantly affect quality of life (QoL). This study aimed to analyze the literature on patient-related outcome measures (PROMs) assessing QoL impacts of vestibular and cerebellar oculomotor abnormalities in patients with CA to identify the strengths and limitations of existing scales and highlight any areas of unmet need. A systematic review was conducted (Medline, Embase) of English-language original articles reporting on QoL measures in patients with vertigo, dizziness or CA. Pre-specified parameters were retrieved, including diseases studied, scales applied and conclusions drawn. Our search yielded 3671 articles of which 467 studies (n = 111,606 participants) were deemed relevant. The most frequently studied disease entities were (a) non-specific dizziness/gait imbalance (114 studies; 54,581 participants), (b) vestibular schwannomas (66; 15,360), and (c) vestibular disorders not further specified (66; 10,259). The Dizziness Handicap Inventory (DHI) was the most frequently used PROM to assess QoL (n = 91,851), followed by the Penn Acoustic Neuroma Quality-of-Life Scale (n = 12,027) and the Activities-Specific Balance Confidence Scale (n = 2'471). QoL-scores capturing symptoms related to oculomotor abnormalities in CA were rare, focused on visual impairments (e.g., National-Eye-Institute Visual Function Questionnaire, Oscillopsia Functional Impact, oscillopsia severity score) and were unvalidated. The DHI remains the most widely used and versatile scale for evaluating dizziness. A lack of well-established PROMs for assessing the impact of oculomotor-related symptoms on QoL in CA was noted, emphasizing the need for developing and validating a new QoL-score dedicated to the oculomotor domain for individuals with CA.
Assuntos
Ataxia Cerebelar , Qualidade de Vida , Humanos , Ataxia Cerebelar/fisiopatologia , Tontura/fisiopatologia , Tontura/diagnóstico , Medidas de Resultados Relatados pelo Paciente , Transtornos da Motilidade Ocular/fisiopatologia , Transtornos da Motilidade Ocular/etiologia , Transtornos da Motilidade Ocular/diagnósticoRESUMO
BACKGROUND AND PURPOSE: The etiological distribution of oculomotor nerve palsy has varied amongst the studies. This study aimed to define the clinical features and underlying etiologies of isolated oculomotor nerve palsy by recruiting patients from all departments in a referral-based university hospital. METHODS: The medical records of 672 patients who had a confirmed diagnosis of isolated oculomotor nerve palsy at all departments of Seoul National University Bundang Hospital, Seongnam, South Korea, from 2003 to 2020 were reviewed. A proportion of the etiology of isolated oculomotor nerve palsy was also compared with that of patients pooled from the previous studies that were searched on PubMed in May 2022. RESULTS: The most common etiology was microvascular (n = 168, 26.5%), followed by vascular anomalies (n = 110, 17.4%), neoplastic (n = 86, 13.6%), inflammatory (n = 79, 12.5%), idiopathic (n = 60, 9.5%) and traumatic (n = 53, 8.4%). Neurologists were mainly involved in the management of microvascular and inflammatory oculomotor nerve palsies whilst ophthalmologists mainly participated in the care of idiopathic, neoplastic and traumatic palsies. Neurosurgeons mostly took care of oculomotor nerve palsy due to vascular anomalies. CONCLUSIONS: The proportion of etiologies of isolated oculomotor nerve palsy may differ according to the specialties involved in the management. The results of previous studies on the etiological distribution of isolated oculomotor nerve palsy should be interpreted with this consideration.
Assuntos
Doenças do Nervo Oculomotor , Humanos , Doenças do Nervo Oculomotor/etiologia , Doenças do Nervo Oculomotor/epidemiologia , Pessoa de Meia-Idade , Adulto , Masculino , Feminino , Idoso , Adolescente , Adulto Jovem , Criança , Idoso de 80 Anos ou mais , Pré-Escolar , República da Coreia/epidemiologiaRESUMO
A single bout of exercise improves executive function (EF) and is a benefit - in part -attributed to an exercise-mediated increase in cerebral blood flow enhancing neural efficiency. Limited work has used an event-related protocol to examine postexercise changes in preparatory phase cerebral hemodynamics for an EF task. This is salient given the neural efficiency hypothesis' assertion that improved EF is related to decreased brain activity. Here, event-related transcranial Doppler ultrasound was used to measure pro- (saccade to target) and antisaccades (saccade mirror-symmetrical target) preparatory phase middle cerebral artery velocity (MCAv) prior to and immediately after 15-min of aerobic exercise. Antisaccades produced longer reaction times (RT) and an increased preparatory phase MCAv than prosaccades - a result attributed to greater EF neural activity for antisaccades. Antisaccades selectively produced a postexercise RT reduction (ps < 0.01); however, antisaccade preparatory phase MCAv did not vary from pre- to postexercise (p=0.53) and did not correlate with the antisaccade RT benefit (p = 0.31). Accordingly, results provide no evidence that improved neural efficiency indexed via functional hyperemia is linked to a postexercise EF behavioural benefit. Instead, results support an evolving view that an EF benefit represents the additive interplay between interdependent exercise-mediated neurophysiological changes.
Assuntos
Circulação Cerebrovascular , Função Executiva , Exercício Físico , Movimentos Sacádicos , Ultrassonografia Doppler Transcraniana , Humanos , Movimentos Sacádicos/fisiologia , Exercício Físico/fisiologia , Masculino , Feminino , Adulto Jovem , Adulto , Circulação Cerebrovascular/fisiologia , Ultrassonografia Doppler Transcraniana/métodos , Função Executiva/fisiologia , Tempo de Reação/fisiologia , Hemodinâmica/fisiologia , Inibição Psicológica , Artéria Cerebral Média/fisiologia , Desempenho Psicomotor/fisiologiaRESUMO
Renal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human retina ( https://www.proteinatlas.org/humanproteome/tissue ) and for an ocular phenotype in mouse models ( http://www.informatics.jax.org/ ). Eighty-two of the 86 pediatric-onset renal ciliopathies (95%) have an ocular phenotype, including inherited retinal degeneration, oculomotor disorders, and coloboma. Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations, as well as low retinal expression and no ocular features in mouse models. Ocular abnormalities are not associated with the most common adult-onset "cystic" kidney diseases, namely, autosomal dominant (AD) polycystic kidney disease and the AD tubulointerstitial kidney diseases (ADTKD). However, other kidney syndromes with cysts have ocular features including papillorenal syndrome (optic disc dysplasia), Hereditary Angiopathy Nephropathy, Aneurysms and muscle Cramps (HANAC) (tortuous retinal vessels), tuberous sclerosis (retinal hamartomas), von Hippel-Lindau syndrome (retinal hemangiomas), and Alport syndrome (lenticonus, fleck retinopathy). Ocular abnormalities are associated with many pediatric-onset renal ciliopathies but are uncommon in adult-onset cystic kidney disease. However the demonstration of ocular manifestations may be helpful diagnostically and the features may require monitoring or treatment.
Assuntos
Ciliopatias , Doenças Renais Císticas , Nefrite Hereditária , Doenças Retinianas , Adulto , Criança , Animais , Camundongos , Humanos , Rim/patologia , Doenças Retinianas/genética , Nefrite Hereditária/genética , Retina , Doenças Renais Císticas/complicações , Ciliopatias/complicaçõesRESUMO
Causal perturbations suggest that primate dorsal pulvinar plays a crucial role in target selection and saccade planning, though its basic neuronal properties remain unclear. Some functional aspects of dorsal pulvinar and interconnected frontoparietal areas-e.g. ipsilesional choice bias after inactivation-are similar. But it is unknown if dorsal pulvinar shares oculomotor properties of cortical circuitry, in particular delay and choice-related activity. We investigated such properties in macaque dorsal pulvinar during instructed and free-choice memory saccades. Most recorded units showed visual (12%), saccade-related (30%), or both types of responses (22%). Visual responses were primarily contralateral; diverse saccade-related responses were predominantly post-saccadic with a weak contralateral bias. Memory delay and pre-saccadic enhancement was infrequent (11-9%)-instead, activity was often suppressed during saccade planning (25%) and further during execution (15%). Surprisingly, only few units exhibited classical visuomotor patterns combining cue and continuous delay activity or pre-saccadic ramping; moreover, most spatially-selective neurons did not encode the upcoming decision during free-choice delay. Thus, in absence of a visible goal, the dorsal pulvinar has a limited role in prospective saccade planning, with patterns partially complementing its frontoparietal partners. Conversely, prevalent visual and post-saccadic responses imply its participation in integrating spatial goals with processing across saccades.
Assuntos
Pulvinar , Movimentos Sacádicos , Animais , Pulvinar/fisiologia , Estudos Prospectivos , Macaca mulatta , Movimentos OcularesRESUMO
Driving is a critical everyday task necessitating the rapid and seamless integration of dynamic visually derived information to guide neurobehaviour. Biological markers are frequently employed to detect Δ9-tetrahydrocannabinol (THC) consumption among drivers during roadside tests, despite not necessarily indicating impairment. Characterising THC-specific alterations to oculomotor behaviour may offer a more sensitive measure for indexing drug-related impairment, necessitating discrimination between acute THC effects, chronic use and potential tolerance effects. The present review aims to synthesise current evidence on the acute and chronic effects of THC on driving-relevant oculomotor behaviour. The review was prospectively registered (10.17605/OSF.IO/A4H9W), and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines informed reporting standards. Overall, 20 included articles comprising 12 experimental acute dosing trials, 5 cross-sectional chronic use studies and 3 roadside epidemiological studies examined the effects of cannabis/THC on oculomotor parameters including saccadic activity gaze behaviour, nystagmus, smooth pursuit and eyelid/blink characteristics. Acute THC consumption selectively impacts oculomotor control, notably increasing saccadic latency and inaccuracy and impairing inhibitory control. Chronic cannabis users, especially those with early age of use onset, display enduring oculomotor deficits that affect visual scanning efficiency. The presence of eyelid tremors appears to be a reliable indicator of cannabis consumption while remaining distinct from direct impairment associated with visual attention and motor control. Cannabis selectively influences oculomotor activity relevant to driving, highlighting the role of cannabinoid systems in these processes. Defining cannabis/THC-specific changes in oculomotor control may enhance the precision of roadside impairment assessments and vehicle safety systems to detect drug-related impairment and assess driving fitness.
Assuntos
Canabinoides , Cannabis , Dronabinol , Estudos Transversais , Agonistas de Receptores de CanabinoidesRESUMO
The inconsistency in terminology for Cortical Visual Impairment or Cerebral Visual Impairment presents challenges: (1) different levels of changes in visual pathway and other cerebral areas do not allow discrimination; (2) different visual and oculomotor aspects are not adequately considered. We open a debate to consider a more appropriate diagnosis.
Assuntos
Terminologia como Assunto , Transtornos da Visão , Humanos , Transtornos da Visão/fisiopatologia , Transtornos da Visão/diagnóstico , Córtex Visual/fisiologia , Vias Visuais/fisiopatologiaRESUMO
OBJECTIVE: To determine, the impact of long COVID-19 on oculomotor behaviour. DESIGN: A case-control study. SETTING: Spanish Association of Persistent COVID. PARTICIPANT: Participants were 75 cases (64 women, 11 men, mean age 46.4 years ±8.9) and 42 controls (22 women, 20 men, mean age 53.5 years ±13.13). INTERVENTION: An eye-tracking test based on visual search paradigm and the Adult Developmental Eye Movement Test were used to evaluate the participants. MAIN MEASURES: The primary outcomes in the Adult Developmental Eye Movement Test were horizontal reading time, vertical reading time, and their ratio. And for the eye-tracking test the time to find the target, the duration, and the number of eye fixations. RESULTS: In cases and controls, eye movement test results were horizontal(Hadj) reading time 74.2 ± 22.7â s vs 52.0 ± 6.1â s (p < .0001); vertical(Vadj) reading time 67.6 ± 17.8â s vs 50.4 ± 6.9â s (p < .0001); Hadj/Vadj ratio 0.9 ± 0.1 vs 1.0 ± 0 (p = .0032), respectively; and eye-tracking test results were fixation number 11.3 ± 3.07 vs 3.51 ± 2.57 (p < .0001); fixation duration 2.01 ± 0.79â s vs 1.5 ± 0.4â s (p = .0013), and time to find target 24.5 ± 8.0 vs 18 ± 9.4 (p = .0034), respectively. CONCLUSIONS: Data showed a lower performance in oculomotor behaviour in people with long COVID-19, compared to healthy individuals. It cannot be affirmed an ocular musculature dysfunction; the differentiated behaviour could be associated to cognitive alterations affected in these people. Both tests used could be an useful tool for the clinical assessment of these participants. Further studies are needed to explore the utility of these procedures.
RESUMO
Oculomotor nerve schwannoma in children not associated with neurofibromatosis is a rare disease, with 26 pediatric cases reported so far. There is no established treatment plan. A 7-year-old girl presented with oculomotor nerve palsy. Surgical reduction of the tumor combined with postoperative gamma knife surgery preserved the oculomotor nerve, improved oculomotor nerve function, and achieved tumor control during the observation period of 20 months. The combination of partial surgical resection and gamma knife surgery as a treatment strategy for oculomotor nerve schwannoma resulted in a good outcome.
Assuntos
Seio Cavernoso , Neurilemoma , Doenças do Nervo Oculomotor , Humanos , Feminino , Criança , Neurilemoma/cirurgia , Neurilemoma/complicações , Seio Cavernoso/cirurgia , Seio Cavernoso/diagnóstico por imagem , Doenças do Nervo Oculomotor/etiologia , Doenças do Nervo Oculomotor/cirurgia , Oftalmoplegia/etiologia , Oftalmoplegia/cirurgia , Radiocirurgia/métodos , Neoplasias dos Nervos Cranianos/cirurgia , Neoplasias dos Nervos Cranianos/complicações , Resultado do Tratamento , Imageamento por Ressonância MagnéticaRESUMO
OBJECTIVES: This study aimed to investigate the association between intracerebral aneurysms and cranial nerve (CN) palsies, focusing on nerves other than the oculomotor nerve. It sought to determine the prevalence, risk factors, and clinical outcomes of these nerve palsies and compare the effectiveness of microsurgical clipping versus endovascular coiling in restoring nerve function. METHODOLOGY: Following PRISMA guidelines, a comprehensive literature search was conducted using databases like PubMed, Scopus, and Google Scholar, covering studies from 1975 to April 2024. The inclusion criteria targeted patients with non-oculomotor nerve palsies diagnosed with cerebral aneurysms. Studies published before 1975 and non-English studies were excluded. Data extraction included study design, patient characteristics, and intervention outcomes. The Joanna Briggs Institute and Newcastle-Ottawa scales were used to assess study quality. Data were synthesized narratively and statistically analysed using SPSS v27. RESULTS: The analysis included 47 patients (53.2% female, mean age 44.8 years). The internal carotid artery (ICA) was the most common aneurysm site (44.7%), and the abducent nerve (CN VI) was most frequently affected. Ruptured aneurysms had better recovery outcomes (88.9%) than unruptured ones (66.7%). Hypertension was present in 9.2%. Unilateral aneurysms were seen in 80.9%, with 76.6% having a single nerve palsy. Non-ruptured aneurysms accounted for 58.1%, and ruptured for 41.9% of associated cranial nerve palsies. Treatment included microsurgical approaches (42.6%), endovascular approaches (34%), combined approaches (6.4%), and conservative management (17%). Recovery of the palsy was observed in 75.6%, with endovascular procedures showing higher recovery (93.3%) compared to conservative treatment (28.6%). CONCLUSION: Intracerebral aneurysms are significantly associated with non-oculomotor CN palsies. Endovascular procedures yield higher recovery rates than conservative management, particularly in ruptured aneurysms. Timely and appropriate treatment is crucial for improving nerve function recovery in these patients.