International Journal of Neuroscience最新文献

Headings: Kelch-like protein 11antibody is a recently identified biomarker for paraneoplastic neurological syndromes associated with germ-cell tumors that was first described as an onconeural antibody causing autoimmune encephalitis associated with seminoma in 2019. Ataxia is the most prevalent presenting symptom, with other neurological symptoms including vertigo, double vision, hearing loss, tinnitus and dysarthria. Magnetic resonance imaging scans reveal that the lesions are mostly located in the cerebellum and brainstem, particularly in the pontine region, and may also exhibit cerebellar atrophy.

Aim of the study: In this study, we report the clinical features of Kelch-like protein 11 antibody-associated paraneoplastic neurological syndrome.

Materials and methods: We present a middle-aged female patient who presented with vertigo, cognitive decline, ataxia and limb weakness. A cell-based assay (CBA) showed positive IgG Kelch-like protein 11 in both her serum and CSF, as well as positive oligoclonal bands in her CSF. She was diagnosed with KLHL11 antibody-associated autoimmune encephalomyelitis and received high-dose intravenous methylprednisolone pulse therapy.

Result and conclusions: Clinical outcomes suggest that patients with Kelch-like protein 11 antibody mostly have poor prognoses, excepting our case. We propose that early and appropriate treatments are critical for timely diagnosis and rapid improvement.

Aims: Females and males of all ages are affected by epilepsy; however, unlike many clinical studies, most preclinical research has focused on males. Genetic variants in the voltage-gated sodium channel gene, SCN8A, are associated with a broad spectrum of neurological and epileptic syndromes. Here we investigate sex differences in the natural history of the Scn8a-N1768D knockin mouse model of pediatric epilepsy.

Methods: We utilize 24/7 video to monitor juveniles and adults of both sexes to investigate variability in seizure activity (e.g. onset and frequency), mortality and morbidity, response to cannabinoids, and mode of death. We also monitor sleep architecture using a noninvasive piezoelectric method in order to identify factors that influence seizure severity and outcome.

Results: Both sexes had nearly 100% penetrance in seizure onset and early mortality. However, adult heterozygous (D/+) females were more resilient as exhibited by the ability to tolerate more seizures over a longer lifespan. Homozygous (D/D) juveniles did not exhibit a sex difference in overall survival. Female estrus cycle was disrupted before seizure onset, while sleep was disrupted in both sexes in association with seizure onset. Females typically died while in convulsive status epilepticus; however, a high proportion of males died while not experiencing behavioral seizures. Only juvenile and adult males benefited from cannabinoid administration.

Conclusions: These results support the hypothesis that factors associated with sexual differentiation play a role in the neurobiology of epilepsy and point to the importance of including both sexes in the design of studies to identify new epilepsy therapies.

Introduction: The metabotropic glutamate receptor 4 (mGlu4, GRM4) exhibits significant expression within the central nervous system (CNS) and has been implicated to be correlated with a poor prognosis.

Objective: This study was aimed to elucidate the relationship between the expression profile of GRM4 and the prognosis of glioma patients.

Methods: RNA-sequencing datasets from The Cancer Genome Atlas (TCGA), Gene Expression Omnibus (GEO), and China Glioma Genome Atlas (CGGA) repositories were used to evaluate the potential relationship. The value of clinical prognostic about GRM4 was assessed using clinical survival data from CGGA and TCGA. The GEPIA database was used to select genes like GRM4. PPI network was constructed by the database of (STRING), GO and KEGG analyses were performed. TargetScan, TarBase, miRDB, and starBase were used to explore miRNAs that could regulate GRM4 expression. EWAS Data Hub, MethSurv, and MEXPRESS were used for the analysis and relationship between DNA methylation and GRM4 expression and prognosis in glioma. TIMER2.0 and CAMOIP databases were used to assess the association between immune cell infiltration and GRM4. Human GBM cell lines were used to validate the function of GRM4.

Results: Our study shows that GRM4 is under expressed among gliomas and accompanied by poorer OS. Multivariate analysis showed that low mRNA expression of GRM4 was an independent factor of prognostic for shorter OS in all glioma patients. MiR-1262 affects the malignant phenotype of gliomas through GRM4. Methylation of DNA plays an important role in the instruction of GRM4 expression, the methylation level of GRM4 in glioma tissue is higher in comparison to normal tissue, and the higher methylation level was accompanied with the worse prognosis. Further analysis showed that GRM4 mRNA expression in GBM linked negatively with common lymphoid progenitor, Macrophage M1, Macrophage, and T cell CD4⁺ Th2, but not with the tumor purity. Overexpression of GRM4 prevents the migration of human GBM cell lines in vitro.

Conclusion: GRM4 may have a substantial impact on the infiltration of immune cells and serve as a valuable prognostic biomarker in gliomas.

The neurobiology of autism is complex, but emerging research points to potential abnormalities and alterations in neurogenesis. The aim of the present review is to describe the advances in the understanding of the role of selected neurotrophins, neuropeptides, and other compounds secreted by neuronal cells in the processes of postnatal neurogenesis in conjunction with autism. We characterize the fundamental mechanisms of neuronal cell proliferation, generation of major neuronal cell types with special emphasis on neurogenic niches - the subventricular zone and hippocampal areas. We also discuss changes in intracellular calcium levels and calcium-dependent transcription factors in the context of the regulation of neurogenesis and cell fate determination. To sum up, this review provides specific insight into the known association between alterations in the function of the entire spectrum of molecules involved in neurogenesis and the etiology of autism pathogenesis.

Aim of the study: Dysembryoplastic neuroepithelial tumor (DNET) is a rare glioneuronal tumor usually found in the temporal lobe of children and young adults. DNETs are commonly associated with drug-resistant partial seizures, with most cases diagnosed before age 20. Asymptomatic brain tumors are rare in the general healthy population, and the frequency of incidental DNETs in adults remains unknown.Materials and methods: We report the case of a 34-year-old healthy man who presented with a facial rash but was incidentally found to have a large T1 hypointense lesion in the left temporal cortex on neuroimaging. The patient opted for surgical removal of the mass, which was subsequently identified as a DNET, positive for a fibroblast growth factor receptor (FGFR) mutation.Results: This case report presents the first incidentally discovered DNET in an adult without epilepsy, highlighting its atypical presentation. In addition, the presence of an FGFR mutation emphasizes its role in DNET pathogenesis and potential therapeutic implications. DNETs exhibit varied behavior based on age, tumor location, and cortical dysplasia.Conclusions: In this case, the absence of seizure onset may be attributed to the lack of cortical dysplasia. Further research is needed to understand the incidence of DNETs and their association with seizure onset and cortical dysplasia.

Purpose: Intrathecal baclofen pump treatment is employed in the treatment of various diseases. Despite the benefits of intrathecal baclofen pump, patients may occasionally encounter severe complications. These complications may necessitate urgent assessment or intervention for patients with intrathecal baclofen pumps. This study aimed to evaluate the intrathecal baclofen pump-related problems, the utilization of health services, physical-psychosocial status, and the quality of life of patients with intrathecal baclofen pumps during the coronavirus disease 2019 pandemic.

Materials and methods: We conducted a cross-sectional, phone-based survey study between 1 June 2021 and 15 July 2021 with a sample of 23 patients with intrathecal baclofen pumps. The patients' quality of life before the implantation of the pump, after one year of implantation, and during the pandemic was evaluated with the 3-level version of EQ-5D.

Results: Catheter migration developed in one of the patients, after which the pump was changed. While the dose of baclofen was altered in eight (38.1%) patients during the pandemic period, the filling period was modified in three (14.3%) patients. While 61.9% of the patients reported that their general health, mobility, spasticity and joint mobility were worse than before the pandemic, 90.5% of the patients stated that their communication and mood were worse than before the pandemic. The 3-level version of EQ-5D and EQ-Visual Analogue Scale scores of the patients were significantly decreased during pandemic (p < .05).

Conclusions: Due to the complications of the intrathecal baclofen pump, its management should continue uninterruptedly during the pandemic period.

Sporadic Creutzfeldt-Jakob disease is characterized by rapid cognitive and neuropsychiatric impairment. The Heidenhain variant of Creutzfeldt-Jakob disease is known for isolated visual disturbance that precedes other features. Periodic sharp wave complexes on EEG are typical of sporadic Creutzfeldt-Jakob disease, but at the onset, the electroclinical pattern may be unclear and suggest the hypothesis of a non-convulsive status epilepticus. Furthermore, non-convulsive status epilepticus and sporadic Creutzfeldt-Jakob disease could coexist simultaneously. We report the case of a patient admitted to our hospital for progressive psychiatric and cognitive disorders. In the initial phase, based on clinical, EEG, and neuroradiological features, a diagnosis of possible non-convulsive status epilepticus was made. Subsequently, the rapid neurological degeneration led to the diagnosis of Creutzfeldt-Jakob disease confirmed by cerebrospinal fluid real-time quaking-induced conversion. Non-convulsive status epilepticus could mimic Creutzfeldt-Jakob disease or be present in overlap. Antiseizure drugs may be started when the etiology is unclear, but overtreatment should be avoided when invasive treatment protocols fail, and the neurological progression suggests an encephalopathy.

Objective: Visual evoked potential recording has reported ambiguous results among migraineurs, thus the present study explored the association of check-size and reversal rates on the latency and amplitude of pattern reversal VEP among migraineurs.

Method and material: Monocular VEP responses for both eyes were recorded in 133 migraineurs and 111 controls. Checkerboard pattern with phase reversal frequency of 0.5, 1, 2 and 4 Hz and check-size of 16 × 16, 32 × 32, 64 × 64 and 128 × 128, i.e. spatial frequency of 0.475, 1.029, 2.056 and 4.112 cycle per degree (cpd) were used to record 100 responses each. Three-minutes gap was given after change of reversal frequency to a higher rate for next cycle of 4 check-size records.

Result: A linear increase in latencies was observed with decreasing check-size in both groups, but migraineurs had significantly higher latencies at a given reversal rate. Amplitudes A1 and A2 were higher among migraineurs and amplitude A2 showed an inverted 'U' shaped trend with maximum amplitude at 32 × 32 check size (1.029 cpd) in both groups, with an exaggerated response among migraineurs. Check-size 32 × 32 i.e. spatial frequency of 1.029 behaves differently than other larger or smaller check-sizes.

Conclusion: Variable VEP response for different visual stimuli may be due to differential activation of respective retinocortical pathways and cortical areas. The highest amplitude at modest check-size suggests a contributory role of foveal-parafoveal fibres in migraineurs. Exaggerated physiological response to visual stimuli may be responsible for higher amplitudes and prolonged latencies among migraineurs.

Objective: To determine the effects of extracorporeal shock wave therapy (ESWT) on lower limb function, walking, and quality of life in patients with lower limb poststroke spasticity.

Data sources: A comprehensive and systematic electronic database search of PubMed, Web of Science, ProQuest thesis Dissertation checks, Google Scholar was conducted from January 2010 to March 2022.

Review method: Initially, the bibliography was screened to identify randomized and nonrandomized controlled trials evaluating the effects of ESWT on lower limb spasticity and functional outcomes in stroke patients. Two reviewers independently screened the title and abstract, full-text articles, extracted data, and assessed the quality of the selected studies. The primary evaluation outcome was spasticity assessed by Modified Ashworth Scale (MAS), and the secondary outcomes were walking performance and quality of life measured on different scales.

Data synthesis: Out of the total of 483 records, 15 studies (389 participants) were finally found eligible for inclusion. A meta-analysis was performed and beneficial effects of ESWT were observed in the experimental group compared with the control group on spasticity. MAS: Standard mean difference (SMD = 0.626), (95%CI = -0.133, 1.119), (p < 0.01), ROM: (SMD = 0.573), (95%CI = 0.074, 1.072), (p < 0.02). The result for before and after ESWT application on TUG: (SMD = 0.174), (95%CI=-0.151, 0.499), (p = 0.29). The results for walking performance were not significant and inconclusive which may be due to the heterogeneity of the studies included.

Conclusion: Evidence suggests that ESWT has promising effects in reducing spasticity and improving lower limb motor function. However, uncertainty exists regarding its effectiveness in walking performance.

Introduction: Current electroencephalogram (EEG) indices for monitoring the depth of anaesthesia have not been adjusted for age. This study aims to identify the most suitable EEG indices for monitoring anaesthesia depth across different age groups.

Method: In here, we conducted a prospective observational trial to observe whether different EEG features in different age groups can detect anaesthesia depth and compare their performance.

Results: In Group 1, absolute θ had the highest prediction probability (Pk) value (0.78 ± 0.07), while relative γ had the lowest relative coefficient of variation (CV) value in states 1 (0.160), 2 (0.153), 3 (0.214) and 4 (0.144). In Group 2, absolute θ had the highest Pk value (0.81 ± 0.09), and relative γ had the lowest CV value in states 1 (0.159), 2 (0.178), 3 (0.140) and 4 (0.095). In Group 3, absolute δ had the highest Pk value (0.79 ± 0.08), with absolute slow wave having the lowest CV value in States 1 (0.196), 2 (0.258), 3 (0.295) and 4 (0.181). In Group 4, absolute δ had the highest Pk value (0.75 ± 0.10), and absolute slow wave had the lowest CV value in States 1 (0.176), 2 (0.192), 3 (0.185) and 4 (0.144).

Conclusion: In this study, we found that absolute θ and relative γ are the most suitable choices for young and middle-aged patients, while absolute δ and absolute slow wave are the most suitable choices for young elderly and elderly patients.