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Cureus Jun 2024Malformations of cortical development (MCD) are a group of disorders affecting the normal development of the human cortex and are significant causes of delay in...
Malformations of cortical development (MCD) are a group of disorders affecting the normal development of the human cortex and are significant causes of delay in psychomotor development and epilepsy in children. Lissencephaly (smooth brain) forms a major group of brain malformations. Microtubules help in the migration of neuronal cells. Defect in tubulin gene alpha-tubulin (TUBA), beta-tubulin (TUBB), and gamma-tubulin (TUBG) leads to defective neuronal migration. This group of disorders is termed as "tubulinopathies." The important genes implicated in causing lissencephaly are LIS1, XLIS, and TUBA1A gene. Recently, a mutation in the TUBG1 gene is associated with it. Here, we report a one-and-a-half-year-old girl with global developmental delay, microcephaly, infantile-onset epilepsy, epileptic spasms, dysmorphism, and motor signs. There was no significant birth history. Neuroimaging (MRI) showed a broad thick gyri and a decreased number of sulci suggestive of lissencephaly/pachygyria spectrum. There was dilatation of the ventricles, and no grey matter heterotopia was noted. Sleep EEG showed multifocal epileptiform discharges. The child was treated with multiple anti-seizure medicines (ASMs). A genetic test, whole exome sequencing, was done to determine the etiology of MCD. A heterozygous missense variation in exon 6 of the TUBG1 gene was identified and reported as a "variant of unknown significance." Still, because the genotype matched with the clinical phenotype of the patient, it was considered clinically significant. Therefore, a complete diagnosis of TUBG1 mutation-associated cortical malformation (lissencephaly/pachygyria) with microcephaly and early-onset epilepsy was established. TUBG1 mutation is de novo in most cases, but parental testing is recommended. The parents of such patients need to be counseled about the need for prenatal testing and the risk of the disease to siblings. The overall prognosis in such cases is poor because of refractory seizures, physical limitations, and intellectual disability.
PubMed: 38912084
DOI: 10.7759/cureus.62749 -
Frontiers in Human Neuroscience 2024Repetitive somatosensory stimulation (RSS) is a conventional approach to modulate the neural states of both the primary somatosensory cortex (S1) and the primary motor...
INTRODUCTION
Repetitive somatosensory stimulation (RSS) is a conventional approach to modulate the neural states of both the primary somatosensory cortex (S1) and the primary motor cortex (M1). However, the impact of RSS on skill acquisition and retention in sensorimotor adaptation remains debated. This study aimed to investigate whether whole-hand water flow (WF), a unique RSS-induced M1 disinhibition, influences sensorimotor adaptation by examining the hypothesis that whole-hand WF leads to M1 disinhibition; thereby, enhancing motor memory retention.
METHODS
Sixty-eight young healthy participants were randomly allocated to three groups based on the preconditioning received before motor learning: control, whole-hand water immersion (WI), and whole-hand WF. The experimental protocol for all the participants spanned two consecutive days. On the initial day (day 1), baseline transcranial magnetic stimulation (TMS) assessments (T0) were executed before any preconditioning. Subsequently, each group underwent their respective 30 min preconditioning protocol. To ascertain the influence of each preconditioning on the excitability of the M1, subsequent TMS assessments were conducted (T1). Following this, all participants engaged in the motor learning (ML) of a visuomotor tracking task, wherein they were instructed to align a cursor with a target trajectory by modulating the pinch force. Upon completion of the ML session, final TMS assessments (T2) were conducted. All participants were required to perform the same motor learning 24 h later on day 2.
RESULTS
The results revealed that whole-hand WF did not significantly influence skill acquisition during sensorimotor adaptation, although it did reduce intracortical inhibition. This phenomenon is consistent with the idea that S1, rather than M1, is involved in skill acquisition during the early stages of sensorimotor adaptation. Moreover, memory retention 24 h after skill acquisition did not differ significantly across the three groups, challenging our initial hypothesis that whole-hand WF enhances memory retention throughout sensorimotor adaptation. This could be due to the inability of whole-hand WF to alter sensorimotor connectivity and integration, as well as the nature of the plastic response elicited by the preconditioning.
DISCUSSION
In conclusion, these findings suggest that although whole-hand WF attenuates intracortical inhibition, it does not modulate skill acquisition or motor memory retention during sensorimotor adaptation.
PubMed: 38911224
DOI: 10.3389/fnhum.2024.1398164 -
Brain Research Jun 2024Non-invasive brain stimulation induces changes in spontaneous neural activity in the cerebral cortex through facilitatory or inhibitory mechanisms, relying on... (Review)
Review
BACKGROUND
Non-invasive brain stimulation induces changes in spontaneous neural activity in the cerebral cortex through facilitatory or inhibitory mechanisms, relying on neuromodulation of neural excitability to impact brain plasticity. This systematic review assesses the state-of-the art and existing evidence regarding the effectiveness of NIBS in cognitive recovery among patients with chronic stroke.
MATERIALS AND METHODS
We conducted a systematic search, following PRISMA guidelines, for articles published from January 2010 through September 2023. We searched the following databases: PubMed, Embase, Cochrane Database of Systematic Reviews, PEDro, Rehab Data, and Web of Science.
RESULTS
Our electronic searches identified 109 papers. We assessed and included 61 studies based on their pertinence and relevance to the topic. After reading the full text of the selected publications and applying predefined inclusion criteria, we excluded 32 articles, leaving 28 articles for our qualitative analysis. We categorized our results into two sections as follows: (1) Cognitive and emotional domains (11 studies), (2) language and speech functions (16 studies).
CONCLUSION
Our findings highlight the potential of NIBS, such as tDCS and rTMS, in the cognitive, linguistic, and emotional recovery of post-stroke patients. Although it seems that NIBS may work as a complementary tool to enhance cognitive and communication abilities in patients with stroke -also in the chronic phase- evidence on behavioural outcomes is still poor. Future studies should focus on this important issue to confirm the effectiveness of neuromodulation in chronic neurological diseases. PROSPERO Registration: CRD42023458370.
PubMed: 38909976
DOI: 10.1016/j.brainres.2024.149093 -
Brain Stimulation Jun 2024Transcranial evoked potentials (TEPs) measured via electroencephalography (EEG) are widely used to study the cortical responses to transcranial magnetic stimulation...
BACKGROUND
Transcranial evoked potentials (TEPs) measured via electroencephalography (EEG) are widely used to study the cortical responses to transcranial magnetic stimulation (TMS). Immediate transcranial evoked potentials (i-TEPs) have been obscured by pulse and muscular artifacts. Thus, the TEP peaks that are commonly reported have latencies that are too long to be caused by direct excitation of cortical neurons.
METHODS
In 25 healthy individuals, we recorded i-TEPs evoked by a single biphasic TMS pulse targeting the primary motor hand area (M1) or parietal or midline control sites. Sampling EEG at 50 kHz enabled us to reduce the duration of the TMS pulse artifact to a few milliseconds, while minor adjustments of the TMS coil tilt or position enabled us to avoid cranial muscular twitches during the experiment.
RESULTS
We observed an early positive EEG deflection starting after approx. 2 ms followed by a series of superimposed peaks with an inter-peak interval of ∼1.1-1.4 ms in multiple electrodes surrounding the stimulated sensorimotor region. This multi-peak i-TEP response was only evoked by TMS of the M1 region and was modified by changes in stimulation intensity and current direction.
DISCUSSION
Single-pulse TMS of the M1 evokes an immediate local multi-peak response at the cortical site of stimulation. Our results suggest that the observed i-TEP patterns are genuine cortical responses evoked by TMS caused by synchronized excitation of pyramidal neurons in the targeted precentral cortex. This notion needs to be corroborated in future studies, including further investigations into the potential contribution of instrumental or physiological artifacts.
PubMed: 38909748
DOI: 10.1016/j.brs.2024.06.008 -
BMC Neurology Jun 2024After spinal cord injury (SCI), a large number of survivors suffer from severe motor dysfunction (MD). Although the injury site is in the spinal cord, excitability...
BACKGROUND
After spinal cord injury (SCI), a large number of survivors suffer from severe motor dysfunction (MD). Although the injury site is in the spinal cord, excitability significantly decreases in the primary motor cortex (M1), especially in the lower extremity (LE) area. Unfortunately, M1 LE area-targeted repetitive transcranial magnetic stimulation (rTMS) has not achieved significant motor improvement in individuals with SCI. A recent study reported that the M1 hand area in individuals with SCl contains a compositional code (the movement-coding component of neural activity) that links matching movements from the upper extremities (UE) and the LE. However, the correlation between bilateral M1 hand area excitability and overall functional recovery is unknown.
OBJECTIVE
To clarify the changes in the excitability of the bilateral M1 hand area after SCI and its correlation with motor recovery, we aim to specify the therapeutic parameters of rTMS for SCI motor rehabilitation.
METHODS
This study is a 12-month prospective cohort study. The neurophysiological and overall functional status of the participants will be assessed. The primary outcomes included single-pulse and paired-pulse TMS. The second outcome included functional near-infrared spectroscopy (fNIRS) measurements. Overall functional status included total motor score, modified Ashworth scale score, ASIA Impairment Scale grade, spinal cord independence measure and modified Barthel index. The data will be recorded for individuals with SCI at disease durations of 1 month, 2 months, 4 months, 6 months and 12 months. The matched healthy controls will be measured during the same period of time after recruitment.
DISCUSSION
The present study is the first to analyze the role of bilateral M1 hand area excitability changes in the evaluation and prediction of overall functional recovery (including motor function and activities of daily living) after SCI, which will further expand the traditional theory of the predominant role of M1, optimize the current rTMS treatment, and explore the brain-computer interface design for individuals with SCI.
TRIAL REGISTRATION NUMBER
ChiCTR2300068831.
Topics: Humans; Spinal Cord Injuries; Recovery of Function; Hand; Transcranial Magnetic Stimulation; Motor Cortex; Prospective Studies; Evoked Potentials, Motor; Male; Adult; Female; Cohort Studies; Middle Aged; Spectroscopy, Near-Infrared
PubMed: 38909175
DOI: 10.1186/s12883-024-03705-0 -
Scientific Data Jun 2024This research presents a dataset consisting of electroencephalogram and eye tracking recordings obtained from six patients with amyotrophic lateral sclerosis (ALS) in a...
This research presents a dataset consisting of electroencephalogram and eye tracking recordings obtained from six patients with amyotrophic lateral sclerosis (ALS) in a locked-in state and one hundred seventy healthy individuals. The ALS patients exhibited varying degrees of disease progression, ranging from partial mobility and weakened speech to complete paralysis and loss of speech. Despite these physical impairments, the ALS patients retained good eye function, which allowed them to use a virtual keyboard for communication. Data from ALS patients was recorded multiple times at their homes, while data from healthy individuals was recorded once in a laboratory setting. For each data recording, the experimental design involved nine recording sessions per participant, each corresponding to a common human action or demand. This dataset can serve as a valuable benchmark for several applications, such as improving spelling systems with brain-computer interfaces, investigating motor imagination, exploring motor cortex function, monitoring motor impairment progress in patients undergoing rehabilitation, and studying the effects of ALS on cognitive and motor processes.
Topics: Humans; Amyotrophic Lateral Sclerosis; Brain-Computer Interfaces; Electroencephalography; Eye-Tracking Technology
PubMed: 38909069
DOI: 10.1038/s41597-024-03501-y -
Medicina 2024The frontal aslant tract (FAT) connects the supplementary motor area (SMA) with the pars opercularis. Its role in language and its implications in glioma surgery remain...
The frontal aslant tract (FAT) connects the supplementary motor area (SMA) with the pars opercularis. Its role in language and its implications in glioma surgery remain under discussion. We present an anatomosurgical study of three cases with surgical resolution. Three patients with gliomas in the left frontal lobe were operated on using an awake patient protocol with cortical and subcortical mapping techniques, conducting motor and language evaluations. Tractography was performed using DSI Studio software. All three patients showed intraoperative language inhibition through subcortical stimulation of the FAT. Resection involving the FAT correlated with language deficits in all cases and movement initiation deficits in two cases. All patients recovered from their deficits at six months postoperatively. In conclusion, the tract has been successfully reconstructed, showing both anatomical and functional complexity, supporting the idea of its mapping and preservation in glioma surgery. Future interdisciplinary studies are necessary to determine the transient or permanent nature of the deficits.
Topics: Humans; Brain Neoplasms; Glioma; Male; Frontal Lobe; Middle Aged; Female; Adult; Neurosurgical Procedures; Brain Mapping; Motor Cortex; Diffusion Tensor Imaging
PubMed: 38907981
DOI: No ID Found -
Neuroscience Bulletin Jun 2024Clinical researches including the Mayo Anesthesia Safety in Kids (MASK) study have found that children undergoing multiple anesthesia may have a higher risk of fine...
Clinical researches including the Mayo Anesthesia Safety in Kids (MASK) study have found that children undergoing multiple anesthesia may have a higher risk of fine motor control difficulties. However, the underlying mechanisms remain elusive. Here, we report that erythropoietin receptor (EPOR), a microglial receptor associated with phagocytic activity, was significantly downregulated in the medial prefrontal cortex of young mice after multiple sevoflurane anesthesia exposure. Importantly, we found that the inhibited erythropoietin (EPO)/EPOR signaling axis led to microglial polarization, excessive excitatory synaptic pruning, and abnormal fine motor control skills in mice with multiple anesthesia exposure, and those above-mentioned situations were fully reversed by supplementing EPO-derived peptide ARA290 by intraperitoneal injection. Together, the microglial EPOR was identified as a key mediator regulating early synaptic development in this study, which impacted sevoflurane-induced fine motor dysfunction. Moreover, ARA290 might serve as a new treatment against neurotoxicity induced by general anesthesia in clinical practice by targeting the EPO/EPOR signaling pathway.
PubMed: 38907076
DOI: 10.1007/s12264-024-01248-5 -
Toxicology Jun 2024Methylmercury (MeHg) is widely distributed in nature and is known to cause neurotoxic effects. This study aimed to examine the anti-MeHg activity of oleanolic...
Methylmercury (MeHg) is widely distributed in nature and is known to cause neurotoxic effects. This study aimed to examine the anti-MeHg activity of oleanolic acid-3-glucoside (OA3Glu), a synthetic oleanane-type saponin derivative, by evaluating its effects on motor function, pathology, and electrophysiological properties in a mouse model of MeHg poisoning. Mice were orally administered 2 or 4 mg·kg·d MeHg with or without 100 µg·kg·d OA3Glu 5x/week for four weeks. Motor function was evaluated using beam-walking and dynamic weight-bearing (DWB) tests. High-dose MeHg exposure significantly increased the frequency of stepping off the hind leg while crossing the beam in the beam-walking test, and increased weight on forelegs when moving freely in the DWB test. OA3Glu treatment alleviated motor abnormality caused by high-dose MeHg exposure in both motor function tests. Additionally, OA3Glu treatment reduced the number of contracted Purkinje cells frequently observed in the cerebellum of MeHg-treated groups, although cerebrum histology was similar in all experimental groups. The synaptic potential amplitude in the cerebellum decreased as MeHg exposure increased, which was restored by OA3Glu treatment. Even in the cerebrum, where the effects of MeHg were not observed, the amplitude of the field potential was suppressed with increasing MeHg exposure but was restored with OA3Glu treatment. Taken together, the study findings suggest that OA3Glu improves neurotransmission and movement disorders associated with MeHg exposure via protection of Purkinje cells in the cerebellum while ameliorating pre/post-synaptic deficits in the cerebral cortex in which no changes were observed at the tissue level, potentially providing a treatment to mitigate MeHg toxicity.
PubMed: 38906242
DOI: 10.1016/j.tox.2024.153867 -
Acta Psychologica Jun 2024Engaging in chasing, where an actor actively pursues a target, is considered a crucial activity for the development of social skills. Previous studies have focused...
Engaging in chasing, where an actor actively pursues a target, is considered a crucial activity for the development of social skills. Previous studies have focused predominantly on understanding the neural correlates of chasing from an observer's perspective, but the neural mechanisms underlying the real-time implementation of chasing action remain poorly understood. To gain deeper insights into this phenomenon, the current study employed functional near-infrared spectroscopy (fNIRS) techniques and a novel interactive game. In this interactive game, participants (N = 29) were tasked to engage in chasing behavior by controlling an on-screen character using a gamepad, with the goal of catching a virtual partner. To specifically examine the brain activations associated with the interactive nature of chasing, we included two additional interactive actions: following action of following the path of a virtual partner and free action of moving without a specific pursuit goal. The results revealed that chasing and following actions elicited activation in a broad and overlapping network of brain regions, including the temporoparietal junction (TPJ), medial prefrontal cortex (mPFC), premotor cortex (PMC), primary somatosensory cortex (SI), and primary motor cortex (M1). Crucially, these regions were found to be modulated by the type of interaction, with greater activation and functional connectivity during the chasing interaction than during the following and free interactions. These findings suggested that both the MNS, encompassing regions such as the PMC, M1 and SI, and the mentalizing system (MS), involving the TPJ and mPFC, contribute to the execution of online chasing actions. Thus, the present study represents an initial step toward future investigations into the roles of MNS and MS in real-time chasing interactions.
PubMed: 38905953
DOI: 10.1016/j.actpsy.2024.104363