Carlos Gevers-Montoro, Mariana Puente-Tobares, Aléxiane Monréal, Francisco Miguel Conesa-Buendía, Mathieu Piché, Arantxa Ortega-De Mues
{"title":"Urinary TNF-α as a potential biomarker for chronic primary low back pain.","authors":"Carlos Gevers-Montoro, Mariana Puente-Tobares, Aléxiane Monréal, Francisco Miguel Conesa-Buendía, Mathieu Piché, Arantxa Ortega-De Mues","doi":"10.3389/fnint.2023.1207666","DOIUrl":"https://doi.org/10.3389/fnint.2023.1207666","url":null,"abstract":"<p><strong>Introduction: </strong>Over two thirds of individuals with low back pain (LBP) may experience recurrent or persistent symptoms in the long term. Yet, current data do not allow to predict who will develop chronic low back pain and who will recover from an acute episode. Elevated serum levels of the proinflammatory cytokine tumor necrosis factor-α (TNF-α) have been associated with poor recovery and persistent pain following an acute episode of LBP. Inflammatory cytokines may also mediate mechanisms involved in nociplastic pain, and thus, have significant implications in chronic primary low back pain (CPLBP).</p><p><strong>Methods: </strong>This study aimed to investigate the potential of urinary TNF-α levels for predicting outcomes and characterizing clinical features of CPLBP patients. Twenty-four patients with CPLBP and 24 sex- and age-matched asymptomatic controls were recruited. Urinary TNF-α concentrations were measured at baseline and after 4 weeks, during which CPLBP patients underwent spinal manipulative therapy (SMT).</p><p><strong>Results: </strong>Concentrations of TNF-α were found to be elevated in baseline urine samples of CPLBP patients compared to asymptomatic controls. Moreover, these values differed among patients depending on their pain trajectory. Patients with persistent pain showed higher levels of TNF-α, when compared to those with episodic CPLBP. Furthermore, baseline TNF-α concentrations and their changes after 4 weeks predicted alterations in pain intensity and disability following SMT in patients with CPLBP.</p><p><strong>Discussion: </strong>These findings warrant further research on the potential use of urinary TNF-α concentrations as a prognostic biomarker for CPLBP.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1207666"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10199053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Reduced eye optical quality contributes to worse chromatic thresholds in aging.","authors":"Marcelo Fernandes Costa, Livia Soledade Rego, Leonardo Dutra Henriques, Carlo Martins Gaddi, Givago Silva Souza","doi":"10.3389/fnint.2023.1129315","DOIUrl":"https://doi.org/10.3389/fnint.2023.1129315","url":null,"abstract":"<p><strong>Purpose: </strong>Aging causes substantial changes in the intraocular lens, which leads to a reduction in chromatic perception. We aimed to measure the ocular light dispersion component in relation to the reduction in color vision by aging.</p><p><strong>Methods: </strong>Intraocular straylight was quantified psychophysically by C-Quant for light dispersion [Log(s)], reliability of the results (ESD), and psychometric sampling quality (Q). The Cambridge Color Test Trivector protocol measured the chromaticity thresholds for protan, deutan, and tritan color confusion axis in CIE 1976 u' v' units. We tested 224 subjects aged 24-68 years (106 men) with normal best-corrected visual acuity and without clinical evidence of cataracts.</p><p><strong>Results: </strong>A significant positive correlation was found between ocular dispersion of light and chromaticity thresholds for protan (r = 0.42; <i>p</i> < 0.001), deutan (r = 0.49; <i>p</i> < 0.001) and tritan (r = 0.51; <i>p</i> < 0.0001) color confusion axes with a moderate effect size (η<sup>2</sup> = 0.39). However, a weak contribution of the logarithm of the straylight in predicting the chromaticity threshold for protan (b = 0.15; <i>p</i> = 0.025), deutan (b = 0.27; <i>p</i> = 0.001) and tritan (b = 0.21; <i>p</i> = 0.001) color confusion axes was verified in the regression coefficients. The other two measurement quality parameters estimated in the C-Quant were not correlated with chromaticity thresholds, suggesting that there are no problems with the quality of the measurement performed.</p><p><strong>Conclusion: </strong>An increase in ocular light dispersion that occurs physiologically with aging negatively impacts the chromaticity threshold in a similar manner across all three color confusion axes. The weak regression effects suggest that neural rather than optical processes were more related to the reduction in chromaticity in aging.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1129315"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10079907/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9274113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Working memory load modulates the processing of audiovisual distractors: A behavioral and event-related potentials study.","authors":"Yichen Yuan, Xiang He, Zhenzhu Yue","doi":"10.3389/fnint.2023.1120668","DOIUrl":"https://doi.org/10.3389/fnint.2023.1120668","url":null,"abstract":"<p><p>The interplay between different modalities can help to perceive stimuli more effectively. However, very few studies have focused on how multisensory distractors affect task performance. By adopting behavioral and event-related potentials (ERPs) techniques, the present study examined whether multisensory audiovisual distractors could attract attention more effectively than unisensory distractors. Moreover, we explored whether such a process was modulated by working memory load. Across three experiments, n-back tasks (1-back and 2-back) were adopted with peripheral auditory, visual, or audiovisual distractors. Visual and auditory distractors were white discs and pure tones (Experiments 1 and 2), pictures and sounds of animals (Experiment 3), respectively. Behavioral results in Experiment 1 showed a significant interference effect under high working memory load but not under low load condition. The responses to central letters with audiovisual distractors were significantly slower than those to letters without distractors, while no significant difference was found between unisensory distractor and without distractor conditions. Similarly, ERP results in Experiments 2 and 3 showed that there existed an integration only under high load condition. That is, an early integration for simple audiovisual distractors (240-340 ms) and a late integration for complex audiovisual distractors (440-600 ms). These findings suggest that multisensory distractors can be integrated and effectively attract attention away from the main task, i.e., interference effect. Moreover, this effect is pronounced only under high working memory load condition.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1120668"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9155205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jie Zhang, Zengyang He, Lulu Liu, Huailong Li, Tian Wang, Xuefeng Zhu, Yanqing Wang, Dongliang Zhu, Yong Ning, Yi Xu
{"title":"Probiotic has prophylactic effect on spatial memory deficits by modulating gut microbiota characterized by the inhibitory growth of <i>Escherichia coli</i>.","authors":"Jie Zhang, Zengyang He, Lulu Liu, Huailong Li, Tian Wang, Xuefeng Zhu, Yanqing Wang, Dongliang Zhu, Yong Ning, Yi Xu","doi":"10.3389/fnint.2023.1090294","DOIUrl":"https://doi.org/10.3389/fnint.2023.1090294","url":null,"abstract":"<p><p><b>Background:</b> The aim of this study is to interrogate the prophylactic effect of probiotic on the lead-induced spatial memory impairment, as well as the underlying mechanisms based on gut microbiota. <b>Methods:</b> Rats were exposed postnatally to 100 ppm of lead acetate during lactation (from postnatal day 1 to 21), to establish the memory deficits model. A probiotic bacterium, namely <i>Lacticaseibacillus rhamnosus</i>, was administered by drinking into pregnant rats with a dosage of 10<sup>9</sup> CFU/rat/day till birth. At postnatal week 8 (PNW8), the rats were subjected to Morris water maze and Y-maze test, with fecal samples collected for 16S rRNA sequencing. Besides, the inhibitory effect of <i>Lb. rhamnosus</i> on <i>Escherichia coli</i> was carried out in bacterial co-culture. <b>Results:</b> Female rats prenatally exposed to probiotic improved their performances in the behavioral test, indicating that probiotic could protect rats from memory deficits caused by postnatal lead exposure. This bioremediation activity varies depending on the intervention paradigm used. As revealed by microbiome analysis, although administered in a distinct period from lead exposure, <i>Lb. rhamnosus</i> further changed the microbial structure disrupted by lead exposure, suggesting an effective transgenerational intervention. Of note, gut microbiota, represented by Bacteroidota, varied greatly depending on the intervention paradigm as well as the developmental stage. The concerted alterations were revealed between some keystone taxa and behavioral abnormality, including lactobacillus and <i>E. coli</i>. To this end, an <i>in vitro</i> co-culture was created to demonstrate that <i>Lb. rhamnosus</i> could inhibit the growth of <i>E. coli</i> with direct contact, which is dependent on the growth condition under study. In addition, <i>in vivo</i> infection of <i>E. coli</i> O157 aggravated memory dysfunction, which could also be rescued by probiotic colonization. <b>Conclusions:</b> Early probiotic intervention could prevent organisms from lead-induced memory decline in later life through reprogramming gut microbiota and inhibiting <i>E. coli</i>, providing a promising approach to ameliorate the cognitive damage with environmental origins.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1090294"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9088047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Khaldoon O Al-Nosairy, Alexander Duscha, Henrike Buhr, Antonia Lipp, Christiane Desel, Tobias Hegelmaier, Hagen Thieme, Aiden Haghikia, Michael B Hoffmann
{"title":"Functional and structural readouts for early detection of retinal involvement in multiple sclerosis.","authors":"Khaldoon O Al-Nosairy, Alexander Duscha, Henrike Buhr, Antonia Lipp, Christiane Desel, Tobias Hegelmaier, Hagen Thieme, Aiden Haghikia, Michael B Hoffmann","doi":"10.3389/fnint.2023.1158148","DOIUrl":"https://doi.org/10.3389/fnint.2023.1158148","url":null,"abstract":"<p><strong>Introduction: </strong>The retina, a window into the brain, allows for the investigation of many disease-associated inflammatory and neurodegenerative changes affecting the central nervous system (CNS). Multiple sclerosis (MS), an autoimmune disease targeting the CNS, typically impacts on the visual system including the retina. Hence, we aimed to establish innovative functional retinal measures of MS-related damage, e.g., spatially resolved non-invasive retinal electrophysiology, backed by established morphological retinal imaging markers, i.e., optical coherence tomography (OCT).</p><p><strong>Methods: </strong>20 healthy controls (HC) and 37 people with MS [17 without history of optic neuritis (NON) and 20 with (HON) history of optic neuritis] were included. In this work, we differentially assessed photoreceptor/bipolar cells (distal retina) and retinal ganglion cell (RGC, proximal retina) function besides structural assessment (OCT). We compared two multifocal electroretinography-based approaches, i.e., the multifocal pattern electroretinogram (mfPERG) and the multifocal electroretinogram to record photopic negative response (mfERG <sub><i>PhNR</i></sub> ). Structural assessment utilized peripapillary retinal nerve fiber layer thickness (pRNFL) and macular scans to calculate outer nuclear thickness (ONL) and macular ganglion cell inner plexiform layer thickness (GCIPL). One eye was randomly selected per subject.</p><p><strong>Results: </strong>In NON, photoreceptor/bipolar cell layer had dysfunctional responses evidenced by reduced mfERG <sub><i>PhNR</i></sub> -N1 peak time of the summed response, but preserved structural integrity. Further, both NON and HON demonstrated abnormal RGC responses as evidenced by the photopic negative response of mfERG <sub><i>PhNR</i></sub> (mfPhNR) and mfPERG indices (<i>P</i> < 0.05). Structurally, only HON had thinned retina at the level of RGCs in the macula (GCIPL, <i>P</i> < 0.01) and the peripapillary area (pRNFL, <i>P</i> < 0.01). All three modalities showed good performance to differentiate MS-related damage from HC, 71-81% area under curve.</p><p><strong>Conclusion: </strong>In conclusion, while structural damage was evident mainly for HON, functional measures were the only retinal read-outs of MS-related retinal damage that were independent of optic neuritis, observed for NON. These results indicate retinal MS-related inflammatory processes in the retina prior to optic neuritis. They highlight the importance of retinal electrophysiology in MS diagnostics and its potential as a sensitive biomarker for follow-up in innovative interventions.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1158148"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9779270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tanisha G Hill-Jarrett, Rowena Ng, Carlos Cardenas-Iniguez, Jemima Akinsanya, Ismary Blanco, Johnathan M Borland, James S Brown, Tameka Clemons, Adriana K Cushnie, Jacqueline Garcia, Brianna George, Cera W Hassinan, Timothy J Hines, Dan Landayan, Taylor A McCorkle, Katherine R Meckel, Mariajose Metcalfe, Samantha A Montoya, Deborah K Rose, Desmond R Warren
{"title":"A developmental approach to diversifying neuroscience through effective mentorship practices: perspectives on cross-identity mentorship and a critical call to action.","authors":"Tanisha G Hill-Jarrett, Rowena Ng, Carlos Cardenas-Iniguez, Jemima Akinsanya, Ismary Blanco, Johnathan M Borland, James S Brown, Tameka Clemons, Adriana K Cushnie, Jacqueline Garcia, Brianna George, Cera W Hassinan, Timothy J Hines, Dan Landayan, Taylor A McCorkle, Katherine R Meckel, Mariajose Metcalfe, Samantha A Montoya, Deborah K Rose, Desmond R Warren","doi":"10.3389/fnint.2023.1052418","DOIUrl":"https://doi.org/10.3389/fnint.2023.1052418","url":null,"abstract":"<p><p>Many early-career neuroscientists with diverse identities may not have mentors who are more advanced in the neuroscience pipeline and have a congruent identity due to historic biases, laws, and policies impacting access to education. Cross-identity mentoring relationships pose challenges and power imbalances that impact the retention of diverse early career neuroscientists, but also hold the potential for a mutually enriching and collaborative relationship that fosters the mentee's success. Additionally, the barriers faced by diverse mentees and their mentorship needs may evolve with career progression and require developmental considerations. This article provides perspectives on factors that impact cross-identity mentorship from individuals participating in Diversifying the Community of Neuroscience (CNS)-a longitudinal, National Institute of Neurological Disorders and Stroke (NINDS) R25 neuroscience mentorship program developed to increase diversity in the neurosciences. Participants in Diversifying CNS were comprised of 14 graduate students, postdoctoral fellows, and early career faculty who completed an online qualitative survey on cross-identity mentorship practices that impact their experience in neuroscience fields. Qualitative survey data were analyzed using inductive thematic analysis and resulted in four themes across career levels: (1) approach to mentorship and interpersonal dynamics, (2) allyship and management of power imbalance, (3) academic sponsorship, and (4) institutional barriers impacting navigation of academia. These themes, along with identified mentorship needs by developmental stage, provide insights mentors can use to better support the success of their mentees with diverse intersectional identities. As highlighted in our discussion, a mentor's awareness of systemic barriers along with active allyship are foundational for their role.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1052418"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9499488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vinícius Fresca da Costa, Johana Caterin Caipa Ramírez, Stephany Viatela Ramírez, Julian Humberto Avalo-Zuluaga, Daniela Baptista-de-Souza, Lucas Canto-de-Souza, Cleopatra S Planeta, Javier Leonardo Rico Rodríguez, Ricardo Luiz Nunes-de-Souza
{"title":"Emotional- and cognitive-like responses induced by social defeat stress in male mice are modulated by the BNST, amygdala, and hippocampus.","authors":"Vinícius Fresca da Costa, Johana Caterin Caipa Ramírez, Stephany Viatela Ramírez, Julian Humberto Avalo-Zuluaga, Daniela Baptista-de-Souza, Lucas Canto-de-Souza, Cleopatra S Planeta, Javier Leonardo Rico Rodríguez, Ricardo Luiz Nunes-de-Souza","doi":"10.3389/fnint.2023.1168640","DOIUrl":"https://doi.org/10.3389/fnint.2023.1168640","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic exposure to social defeat stress (SDS) has been used to investigate the neurobiology of depressive- and anxiety-like responses and mnemonic processes. We hypothesized that these affective, emotional, and cognitive consequences induced by SDS are regulated via glutamatergic neurons located in the bed nucleus of the stria terminalis (BNST), amygdaloid complex, and hippocampus in mice.</p><p><strong>Methods: </strong>Here, we investigated the influence of chronic SDS on (i) the avoidance behavior assessed in the social interaction test, (ii) the anxiety-like behavior (e.g., elevated plus-maze, and open field tests) (iii) depressive-like behaviors (e.g., coat state, sucrose splash, nesting building, and novel object exploration tests), (iv) the short-term memory (object recognition test), (v) ΔFosB, CaMKII as well as ΔFosB + CaMKII labeling in neurons located in the BNST, amygdaloid complex, dorsal (dHPC) and the ventral (vHPC) hippocampus.</p><p><strong>Results: </strong>The main results showed that the exposure of mice to SDS (a) increased defensive and anxiety-like behaviors and led to memory impairment without eliciting clear depressive-like or anhedonic effects; (b) increased ΔFosB + CaMKII labeling in BNST and amygdala, suggesting that both areas are strongly involved in the modulation of this type of stress; and produced opposite effects on neuronal activation in the vHPC and dHPC, i.e., increasing and decreasing, respectively, ΔFosB labeling. The effects of SDS on the hippocampus suggest that the vHPC is likely related to the increase of defensive- and anxiety-related behaviors, whereas the dHPC seems to modulate the memory impairment.</p><p><strong>Discussion: </strong>Present findings add to a growing body of evidence indicating the involvement of glutamatergic neurotransmission in the circuits that modulate emotional and cognitive consequences induced by social defeat stress.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1168640"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9726640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuqian Wang, Jing Zhu, Ning Zou, Li Zhang, Yingjie Wang, Mengmeng Zhang, Chan Wang, Liu Yang
{"title":"Pathogenesis from the microbial-gut-brain axis in white matter injury in preterm infants: A review.","authors":"Yuqian Wang, Jing Zhu, Ning Zou, Li Zhang, Yingjie Wang, Mengmeng Zhang, Chan Wang, Liu Yang","doi":"10.3389/fnint.2023.1051689","DOIUrl":"https://doi.org/10.3389/fnint.2023.1051689","url":null,"abstract":"<p><p>White matter injury (WMI) in premature infants is a unique form of brain injury and a common cause of chronic nervous system conditions such as cerebral palsy and neurobehavioral disorders. Very preterm infants who survive are at high risk of WMI. With developing research regarding the pathogenesis of premature WMI, the role of gut microbiota has attracted increasing attention in this field. As premature infants are a special group, early microbial colonization of the microbiome can affect brain development, and microbiome optimization can improve outcomes regarding nervous system development. As an important communication medium between the gut and the nervous system, intestinal microbes form a microbial-gut-brain axis. This axis affects the occurrence of WMI in premature infants <i>via</i> the metabolites produced by intestinal microorganisms, while also regulating cytokines and mediating oxidative stress. At the same time, deficiencies in the microbiota and their metabolites may exacerbate WMI in premature infants. This confers promise for probiotics and prebiotics as treatments for improving neurodevelopmental outcomes. Therefore, this review attempted to elucidate the potential mechanisms behind the communication of gut bacteria and the immature brain through the gut-brain axis, so as to provide a reference for further prevention and treatment of premature WMI.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1051689"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9241071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum.","authors":"Ji-Qing Duan, Hui Liu, Jia-Qiao Wu","doi":"10.3389/fnint.2023.1117617","DOIUrl":"https://doi.org/10.3389/fnint.2023.1117617","url":null,"abstract":"<p><p>A 24-year-old man presented with insidious onset progressive gait disturbance and was finally diagnosed with autosomal recessive hereditary spastic paraplegia. Two novel mutations, including a frameshift mutation (c.5687_5691del) and a non-sense mutation (c.751C>T), were identified in the SPG11 gene of the patient through whole genome sequencing. The frameshift mutation of c.5687_5691del leads to a change in amino acid synthesis beginning with amino acid No. 1896 arginine and terminating at the 8th amino acid after the change (p. Arg1896MetfsTer8). The non-sense mutation (c.751C>T) causes the conversion of codon 251st encoding the amino acid Gln into a stop codon (p. Gln251Ter), resulting in premature termination of peptide synthesis. Although confirmation of compound-heterozygosity could not be performed, our findings enriched the phenotypic spectrum of SPG11 mutations related to hereditary spastic paraplegia.</p>","PeriodicalId":56016,"journal":{"name":"Frontiers in Integrative Neuroscience","volume":"17 ","pages":"1117617"},"PeriodicalIF":3.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10079982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9327117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}