International Journal of Neuroscience最新文献

{"title":"Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in <i>WDR45</i> associated with beta-propeller protein-associated neurodegeneration.","authors":"Seda Susgun, Mert Demirel, Gul Yalcin Cakmakli, Baris Salman, Kader K Oguz, Bulent Elibol, Sibel Aylin Ugur Iseri, Zuhal Yapici","doi":"10.1080/00207454.2023.2208279","DOIUrl":"10.1080/00207454.2023.2208279","url":null,"abstract":"<p><strong>Objectives: </strong>Beta-propeller protein-associated neurodegeneration (BPAN) is a rare X-linked dominant neurodegenerative disease, which is characterized by iron accumulation in the basal ganglia. BPAN is associated with pathogenic variation in <i>WDR45</i>, which has been reported almost exclusively in females most probably due to male lethality in the hemizygous state.</p><p><strong>Methods: </strong>Whole exome sequencing (WES) and targeted deep sequencing were performed for a male with a clinical diagnosis of BPAN at the age of 37.</p><p><strong>Results: </strong>The novel frameshift variant in <i>WDR45</i> detected by WES was further analyzed with targeted resequencing to detect a mosaic variant with a level of 85.5% in the blood sample of the proband.</p><p><strong>Discussion: </strong>Although the main role of <i>WDR45</i> remains elusive, recent studies show that <i>WDR45</i> may contribute to neurodegeneration through defects in autophagy, iron storage and ferritin metabolism, mitochondria organization, and endoplasmic reticulum homeostasis. The extend of spatiotemporal haploinsufficiency of <i>WDR45</i> frameshifting variants caused by mosaicism in males may lead to variable clinical severity, which may be hard to elaborate clinically. Promising genetic analysis strategies using targeted deep sequencing may help determine the clinical outcome of somatic mosaicism in neurological disorders including BPAN. Additionally, we suggest that deep sequencing should be conducted in cerebrospinal fluid samples to provide more reliable results in terms of reflecting the mosaicism level in the brain for future studies.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1040-1045"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9756598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The assessment and diagnosis of intellectual disability when development is atypical. A Norwegian population study of individuals with CHARGE syndrome.","authors":"Lynn Skei, Sigmund Skei, Stephen von Tetzchner, Timothy Hartshorne, Nils Inge Landrø","doi":"10.1080/00207454.2023.2240485","DOIUrl":"10.1080/00207454.2023.2240485","url":null,"abstract":"<p><strong>Aim: </strong>This paper aimed to answer how psychometric methods based on neurotypical populations can serve as valid instruments in the assessment and diagnosis of intellectual disability in individuals with atypical development. The genetic, structural, and functional features of CHARGE make it uniquely suited to address this question.</p><p><strong>Method: </strong>A Norwegian population of individuals with CHARGE (<i>N</i> = 35) underwent assessment procedures according to DSM-5 guidelines for the evaluation of an intellectual disability diagnosis. Results from cognitive testing (Wechsler Intelligence Scales) and parental evaluation of adaptive skills (Vineland Adaptive Behavioral Scale) were obtained and compared to their respective norm samples to explore any methodological inconsistencies.</p><p><strong>Result: </strong>Significant differences emerged between the participants and the norm samples. Global cognition obtained from Wechsler revealed a bimodal distribution, suggesting a two-group sample, with the youngest children forming their own subgroup. Comparisons of the different age-groups' performances demonstrated the lowest results among the preschoolers while the adults scored the highest. The global adaptive behavior score turned out significantly lower than the performance-based scores, thereby deflating the overall estimate of global intellectual abilities.</p><p><strong>Conclusion: </strong>For individuals with CHARGE, the effect of the atypicality seemed most apparent during early childhood, stabilizing and subsiding towards adulthood. The test results' interpretability was weakest for the preschoolers progressively increasing until peaking in adulthood, emphasizing the importance of delaying the assessment and diagnosis of intellectual disability. Because of several validity issues connected to the observation-based measure, complementary testing should precede clinical evaluations when possible in the diagnostics of individuals with CHARGE.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1120-1133"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10524017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cut-off scores for the Barratt Impulsiveness Scale-short form (BIS-15): sense and nonsense.","authors":"Adrian Meule","doi":"10.1080/00207454.2023.2241111","DOIUrl":"10.1080/00207454.2023.2241111","url":null,"abstract":"","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1149-1152"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9998546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hsa_circ_0005548 knockdown repairs OGD/R-induced damage in human brain microvascular endothelial cells via miR-362-3p/ETS1 axis.","authors":"Chunlei Chen, Jiguo Xu, Tianrun Huang, Zhuolei Qian","doi":"10.1080/00207454.2023.2246100","DOIUrl":"10.1080/00207454.2023.2246100","url":null,"abstract":"<p><strong>Background: </strong>Ischemic stroke (IS) is a highly prevalent type of stroke with very high rates of disability and death. As the regulatory role of circular RNAs (circRNAs) in various diseases has been revealed, we constructed a stroke cell model to analyze the action mechanism of hsa_circ_0005548 in IS.</p><p><strong>Methods: </strong>The abundance of hsa_circ_0005548, microRNA-362-3p (miR-362-3p) and E26 transformation specific-1 (ETS-1) were measured by real-time quantitative polymerase chain reaction (RT-qPCR) or western blot. We constructed an IS cell model <i>in vitro</i> by oxygen-glucose deprivation/reperfusion (OGD/R) treatment and analyzed cell proliferation, apoptosis and inflammatory response through the use of Cell Counting Kit-8 (CCK8), 5-ethynyl-2'-deoxyuridine (EdU), flow cytometry and Enzyme-linked immunosorbent assay (ELISA), respectively. Dual-luciferase reporter and RNA immunoprecipitation (RIP) assays were employed for the analysis of the relationship between miR-362-3p and hsa_circ_0005548 or ETS1.</p><p><strong>Results: </strong>The higher abundance of hsa_circ_0005548 and ETS-1 and lower level of miR-362-3p were observed in human brain microvascular endothelial immortalized (HBMEC-IM) cells under OGD/R. Hsa_circ_0005548 downregulation mitigated OGD/R-induced HBMEC-IM cell injury. Mechanistically, hsa_circ_0005548 targeted miR-362-3p. MiR-362-3p knockdown reversed the effect of hsa_circ_0005548 silencing on OGD/R-induced HBMEC-IM cell injury. ETS1 was validated as a direct target of miR-362-3p, and miR-362-3p attenuated OGD/R-induced HBMEC-IM cell injury by ETS1. Moreover, hsa_circ_0005548 modulated ETS1 <i>via</i> miR-362-3p.</p><p><strong>Conclusion: </strong>Hsa_circ_0005548 knockdown repairs OGD/R-induced HBMEC-IM cell damage <i>via</i> miR-362-3p/ETS1 axis.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1139-1148"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10500885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The interplay between tauopathy and aging through interruption of UPR/Nrf2/autophagy crosstalk in the Alzheimer's disease transgenic experimental models.","authors":"Javad Amini, Naser Sanchooli, Mohammad-Hossein Milajerdi, Maryam Baeeri, Mohammad Haddadi, Nima Sanadgol","doi":"10.1080/00207454.2023.2210409","DOIUrl":"10.1080/00207454.2023.2210409","url":null,"abstract":"<p><strong>Purpose: </strong>Alzheimer's disease (AD) is the most common form of tauopathy that usually occursduring aging and unfolded protein response (UPR), oxidative stress and autophagy play a crucialrole in tauopathy-induced neurotoxicity. The aim of this study was to investigate the effects oftauopathy on normal brain aging in a Drosophila model of AD.</p><p><strong>Method: </strong>We investigated the interplay between aging (10, 20, 30, and 40 days) and human tauR406W (htau)-induced cell stress in transgenic fruit flies.</p><p><strong>Results: </strong>Tauopathy caused significant defects in eye morphology, a decrease in motor function and olfactory memory performance (after 20 days), and an increase in ethanol sensitivity (after 30 days). Our results showed a significant increase in UPR (GRP78 and ATF4), redox signalling (p-Nrf2, total GSH, total SH, lipid peroxidation, and antioxidant activity), and regulatory associated protein of mTOR complex 1 (p-Raptor) activity in the control group after 40 days, while the tauopathy model flies showed an advanced increase in the above markers at 20 days of age. Interestingly, only the control flies showed reduced autophagy by a significant decrease in the autophagosome formation protein (dATG1)/p-Raptor ratio at 40 days of age. Our results were also confirmed by bioinformatic analysis of microarray data from tauPS19 transgenic mice (3, 6, 9, and 12 months), in which tauopathy increased expression of heme oxygenase 1, and glutamate-cysteine ligase catalytic subunit and promote aging in transgenic animals.</p><p><strong>Conclusions: </strong>Overall, we suggest that the neuropathological effects of tau aggregates may be accelerated brain aging, where redox signaling and autophagy efficacy play an important role.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1049-1067"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9807593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Upregulations of high mobility group box 1 and TLR4/NF-κB signaling pathway in hippocampus and serum of rats with febrile seizure.","authors":"Yuhuan Luo, Guanghong Shen, Guo Wang, Chengjian Lou, Jianqing Cao, Xuefen Zhu, Xinjuan Zhang, Zhanli Liu, Marong Fang","doi":"10.1080/00207454.2023.2208278","DOIUrl":"10.1080/00207454.2023.2208278","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to explore the alternations regarding the HMGB1 and TLR4/NF-<i>κ</i>B signaling pathway in juvenile rats with febrile seizure (FS).</p><p><strong>Materials and methods: </strong>During the animal modeling of the FS, seizures were triggered every four days by hot water (45 °C), and repeated ten times. After forty days' modeling, rats were divided into different groups according to the degree of seizure (FS (0) - FS (V)). Reverse transcription-polymerase chain reaction (RT-PCR) was used to evaluate the mRNA expressions of the HMGB1, TLR4 and NF-<i>κ</i>B in the hippocampus, while Western-blot (WB) and immunofluorescence (IF) were employed to assess protein expressions. The enzyme-linked immunosorbent assay (ELISA) was used for analyzing the protein expressions in peripheral blood.</p><p><strong>Results: </strong>The mRNA levels of the HMGB1, TLR4 and NF-<i>κ</i>B in the hippocampus of both FS (V) and FS (IV) groups were significantly higher than WT, while there was no difference between FS (III) and WT. Concerning protein expressions, increased levels of the HMGB1, TLR4, and NF-<i>κ</i>B in FS (V) were observed with a good consistency between the WB and IF, while no significant upregulation was shown in FS (IV). The ELISA results showed that the significance of the augmented proteins between the FS (V) and WT were smaller in the serum than the hippocampus.</p><p><strong>Conclusions: </strong>Our study shows seizure degree-related upregulations of HMGB1 and TLR4/NF-<i>κ</i>B signaling pathway both in hippocampus and serum of juvenile rats with FS, suggesting the involvement of TLR/NF-<i>κ</i>B pathway in inflammation promoted by HMGB1 during FS.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1031-1039"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9757132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cortical blindness as a sign of delayed post-hypoxic encephalopathy: a case report.","authors":"Athina-Maria Aloizou, Adnan Labedi, Daniel Richter, Ulas Ceylan, Christoph Schroeder, Carsten Lukas, Ralf Gold, Christos Krogias","doi":"10.1080/00207454.2023.2208280","DOIUrl":"10.1080/00207454.2023.2208280","url":null,"abstract":"<p><p>We present a case of a 67-year-old female patient, who presented with acute cortical blindness five days after a successful resuscitation from cardiac arrest. The magnetic resonance tomography revealed a mild FLAIR signal increase of the bilateral occipital cortex. A lumbar puncture revealed considerably elevated tau protein levels, in the presence of normal phospho-tau, as a marker of brain injury, whilst neuron-specific enolase levels were normal. The diagnosis of delayed post-hypoxic encephalopathy was set. We hereby describe a rare clinical manifestation after initially successful resuscitation and encourage the studying of tau protein as a potential marker of this disease entity.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1046-1048"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9776396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The value of the systemic immune-inflammation index in assessing disease severity in autoimmune encephalitis.","authors":"Chengyuan Mao, Xin Cui, Shuyu Zhang","doi":"10.1080/00207454.2024.2410033","DOIUrl":"https://doi.org/10.1080/00207454.2024.2410033","url":null,"abstract":"<p><strong>Background: </strong>Autoimmune encephalitis (AE) is a group of autoimmune diseases targeting the central nervous system, characterized by severe clinical symptoms and substantial consumption of medical resources. Neuroinflammation plays a crucial role in disease progression, and detecting inflammatory responses can provide insights into disease status and disease severity. The systemic immune-inflammation index (SII), a novel marker of inflammatory status, has been rarely studied in AE.</p><p><strong>Methods: </strong>Retrospective analysis of data from AE patients admitted to the First Affiliated Hospital of Zhengzhou University between January 2019 and September 2023 was conducted. Univariate analysis and logistic regression were used to assess the association between SII and patient severity. Nomograms for predicting AE severity were established, and receiver operating characteristic (ROC) curves, concordance index (C-index), calibration curves, and decision curve analysis were employed to evaluate predictive accuracy. Additionally, the Clinical Assessment Scale in Autoimmune Encephalitis (CASE) score was used to assess patient severity.</p><p><strong>Results: </strong>This study enrolled 157 patients, of whom 57 were classified as severe according to the CASE score. SII, cerebrospinal fluid (CSF) cell counts, disturbance of consciousness, and behavioural abnormalities independently associated with the occurrence of severe cases. The C-index of the nomograms was 0.87, indicating strong association with disease severity, as supported by the calibration. Additionally, SII levels were highest within seven days of onset and decreased after one month. In subgroup analyses of different antibodies, SII also associations with severe cases in NMDAR encephalitis.</p><p><strong>Conclusions: </strong>Higher SII levels are associated with an increased likelihood of developing severe AE, peaking within 7 days of disease onset and decreasing thereafter, potentially offering a prognostic marker to assess disease progression early in its course.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuro-Behcet's disease misdiagnosed and treated as multiple sclerosis: a deceiving masquerader.","authors":"Hussein Algahtani, Bader Shirah, Hussain Almohiy, Ahmad AlAlmai","doi":"10.1080/00207454.2023.2246099","DOIUrl":"10.1080/00207454.2023.2246099","url":null,"abstract":"<p><p>Behcet's disease is a chronic polysymptomatic systemic vasculitis disorder of unknown etiology characterized by several clinical manifestations in multiple organ systems. Involvement of the nervous system occurs in ∼9% of patients with Behcet's disease (ranging from 3 to 30%). Neuro-Behcet's disease is a great masquerader of multiple sclerosis. Diagnosing this disorder might be challenging, especially in a patient who does not fulfill the criteria of Behcet's disease while having a neurological presentation. We report a case of neuro-Behcet's disease who was misdiagnosed as having multiple sclerosis for many years and started on unnecessary disease-modifying therapy for multiple sclerosis. A thorough history, physical examination, and systematic investigations are mandatory to differentiate between these two conditions. Our case presentation raises awareness of the importance of differentiating between these two conditions since the consequences of misdiagnosis are catastrophic. The main challenges differentiating between multiple sclerosis and neuro-Behcet's are clinical and paraclinical, including neuroimaging.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1134-1138"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9972524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment of moyamoya disease with intracranial aneurysm by surgical clipping combined with encephalo-duro-myo-synangiosis surgery: a case report and literature review.","authors":"Kaixin Huang, Lesheng Wang, Jincao Chen","doi":"10.1080/00207454.2023.2211729","DOIUrl":"10.1080/00207454.2023.2211729","url":null,"abstract":"<p><strong>Background: </strong>We report a case of 39-year-old male patient with an unruptured middle cerebral artery aneurysm associated with moyamoya disease (MMD) treated by surgical clipping combined with encephalo-duro-myo-synangiosis surgery.</p><p><strong>Case description: </strong>A 39-year-old male patient with a history of intraventricular hemorrhage was admitted to our hospital. Preoperative digital subtraction angiography (DSA) showed the aneurysm, arising from a collateral branch of the right middle cerebral artery (RMCA), had an extremely thin neck. Also present were an occlusion of the RMCA main trunk, and moyamoya vessels. Microsurgical aneurysm clipping was performed for the aneurysm, while encephalo-duro-myo-synangiosis was performed for ipsilateral MMD. At the 4-month follow-up, the patient had recovered well and DSA indicated improved cerebral perfusion with no de novo aneurysms.</p><p><strong>Conclusions: </strong>For ipsilateral moyamoya disease accompanied with intracranial aneurysm (IA), simultaneous surgery combining microsurgical clipping and encephalo-duro-myo-synangiosis can be a good treatment option.</p>","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1068-1074"},"PeriodicalIF":1.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9642318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}