Journal of the Neurological Sciences最新文献_第4页

Racial and ethnic differences in access to care and treatment in patients with suspected acute stroke: A retrospective, observational, cohort study 疑似急性脑卒中患者在获得护理和治疗方面的种族和民族差异：一项回顾性、观察性、队列研究

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-10 DOI: 10.1016/j.jns.2024.123225

{"title":"Racial and ethnic differences in access to care and treatment in patients with suspected acute stroke: A retrospective, observational, cohort study","authors":"","doi":"10.1016/j.jns.2024.123225","DOIUrl":"10.1016/j.jns.2024.123225","url":null,"abstract":"<div><h3>Background</h3><p>Data regarding unequal diagnostic and therapeutic access in patients with acute stroke based on ethnicity and race are inconclusive in Europeans. The objectives of our study were to evaluate the effect of race/ethnicity on access to acute stroke care and treatments and outcomes.</p></div><div><h3>Methods</h3><p>In this retrospective cohort study, we enrolled adult patients admitted to the emergency department of a comprehensive stroke center for suspected stroke. Based on race/ethnicity, patients were divided into two main groups: Western European Whites (WEW) and non-Western European Whites (nWEW). We also divided the nWEW group into four subgroups based on the Office of Management and Budget classification of human races and ethnicities (White-Others, Hispanic, Asian, Black). Univariate comparisons and logistic regression analyses were also performed.</p></div><div><h3>Results</h3><p>9167 patients were enrolled in the study: 582 in the nWEW and 8585 in the WEW group. Patients with ischemic stroke in the nWEW group were significantly younger than those in the other group (<em>p</em> < 0.001). Once adjusted for possible confounders, belonging to the nWEW group was found to be an independent predictor of a lower likelihood of receiving revascularization treatments (<em>p</em> = 0.006), regardless similar onset-to-door times. There were no differences in stroke outcomes and prevalence of stroke mimic diagnosis between the groups.</p></div><div><h3>Conclusions</h3><p>Racial/ethnic disparities in healthcare represent a challenging issue, even in universal healthcare systems, that should be addressed promptly through education campaigns of healthcare personnel and implementation measures, such as integrating readily available interpreter staff for medical emergencies.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003605/pdfft?md5=607c4cdf7dc901580ae9a106424cafce&pid=1-s2.0-S0022510X24003605-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142167978","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}

引用次数: 0

Pathomechanism of infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion evaluated by MR spectroscopy 通过核磁共振波谱评估具有双相临床过程和后期弥散减少的婴儿脑外伤的病理机制

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-10 DOI: 10.1016/j.jns.2024.123228

{"title":"Pathomechanism of infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion evaluated by MR spectroscopy","authors":"","doi":"10.1016/j.jns.2024.123228","DOIUrl":"10.1016/j.jns.2024.123228","url":null,"abstract":"<div><h3>Background</h3><p>Infantile traumatic brain injury (TBI) with a biphasic clinical course and late reduced diffusion (TBIRD) has recently been reported as a distinct type of TBI in infancy. However, the pathological and prognostic factors of TBIRD remain unknown. We aimed to compare patients with and without TBIRD and evaluate the pathomechanism of TBIRD using magnetic resonance spectroscopy (MRS).</p></div><div><h3>Methods</h3><p>Ten Japanese patients with TBI were admitted to our hospital and underwent MRS between September 2015 and September 2022 (age range, 3–15 months; median age, 8.5 months). TBIRD was diagnosed in six patients. MRS data were compared among patients with TBIRD, patients without TBIRD, and controls. Neurological prognosis was classified into grades 1 (normal) to 3 (severe).</p></div><div><h3>Results</h3><p>In patients with TBIRD, MRS revealed an increase in the glutamine (Gln) level on days 3–29, which subsequently became close to normal. The degree of Gln elevation in the non-TBIRD group was smaller (117–158 % of controls) than that in the TBIRD group (210–337 %) within 14 days. MRS in the TBIRD group showed decreased <em>N</em>-acetyl aspartate (NAA) concentrations. The degree of NAA decrease was more prominent in grade 3 than in grades 1 and 2. NAA levels in the non-TBIRD group were almost normal.</p></div><div><h3>Conclusions</h3><p>Patients with TBI and markedly elevated Gln levels on MRS may develop TBIRD. Neuro-excitotoxicity is a possible pathological mechanism of TBIRD. Decreased NAA levels may be useful for predicting the prognosis of patients with TBIRD.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142230317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cerebrospinal fluid soluble CD27 is a sensitive biomarker of inflammation in autoimmune encephalitis 脑脊液可溶性 CD27 是自身免疫性脑炎炎症的灵敏生物标志物

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-10 DOI: 10.1016/j.jns.2024.123226

{"title":"Cerebrospinal fluid soluble CD27 is a sensitive biomarker of inflammation in autoimmune encephalitis","authors":"","doi":"10.1016/j.jns.2024.123226","DOIUrl":"10.1016/j.jns.2024.123226","url":null,"abstract":"<div><h3>Background</h3><p>Autoimmune encephalitis (AE) comprises a group of rare, severe neuroinflammatory conditions. Current biomarkers of neuroinflammation are often normal in AE which therefore can be difficult to rule out in patients with seizures, cognitive and/or neuropsychiatric symptoms. Cerebrospinal fluid (CSF) soluble CD27 (sCD27) and soluble B-cell maturation antigen (sBCMA) have high sensitivity for neuroinflammation in other neuroinflammatory conditions. In this exploratory study we investigate the potential of sCD27 and sBCMA in CSF as biomarkers of neuroinflammation in AE.</p></div><div><h3>Methods</h3><p>Concentrations of sCD27 and sBCMA were measured in CSF from 40 AE patients (20 patients were untreated (12 with anti-<em>N</em>-Methyl-<span>d</span>-Aspartate receptor antibodies (NMDA) and 8 with anti-Leucine-rich Glioma-Inactivated 1 antibodies (LGI1)), and 37 symptomatic controls (SCs).</p></div><div><h3>Results</h3><p>CSF concentrations of sCD27 were increased in untreated NMDA AE patients (median 1571 pg/ml; <em>p</em> < 0.001) and untreated LGI1 AE patients (median 551 pg/ml; <em>p</em> < 0.05) compared to SCs (median 250 pg/ml). CSF sBCMA was increased in untreated NMDA AE patients (median 832 pg/ml) compared to SCs (median 429 pg/ml). CSF sCD27 and sBCMA correlated with the CSF cell count. Receiver operating characteristic curve analysis of untreated AE patients versus SCs showed an area under the curve of 0.97 for sCD27 and 0.76 for sBCMA.</p></div><div><h3>Conclusion</h3><p>CSF sCD27 is a suitable biomarker of neuroinflammation in AE with an ability to discriminate patients with NMDA AE and LGI1 AE from symptomatic controls. CSF sCD27 may be suited for ruling out AE and other neuroinflammatory conditions in the early phase of the diagnostic work-up.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142232322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Unveiling the neurological benefits of COVID-19 vaccination: Analyses on involuntary movements 揭示接种 COVID-19 疫苗对神经系统的益处：不自主运动分析

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-10 DOI: 10.1016/j.jns.2024.123233

引用次数: 0

Individual analysis of fMRI data reveals incongruency in a potential CADASIL biomarker 对 fMRI 数据的单独分析表明了一种潜在的 CADASIL 生物标记物的不一致性

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-10 DOI: 10.1016/j.jns.2024.123227

引用次数: 0

Feasibility and effectiveness of telerehabilitation on mobility and balance function in multiple sclerosis: A systematic review and meta-analysis 远程康复对多发性硬化症患者移动和平衡功能的可行性和有效性：系统回顾与荟萃分析

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-04 DOI: 10.1016/j.jns.2024.123214

{"title":"Feasibility and effectiveness of telerehabilitation on mobility and balance function in multiple sclerosis: A systematic review and meta-analysis","authors":"","doi":"10.1016/j.jns.2024.123214","DOIUrl":"10.1016/j.jns.2024.123214","url":null,"abstract":"<div><h3>Background</h3><p>Multiple Sclerosis (MS) is a chronic neurodegenerative disease of the central nervous system with a significant impact on mobility and balance function. Telerehabilitation is an emerging branch of telemedicine which has the potential to deliver rehabilitation remotely through the use of information and communication technology. The aim of this systematic literature review and meta-analysis is to synthesise and analyse the evidence on the effectiveness of telerehabilitation in improving mobility and balance function in MS and to determine its feasibility.</p></div><div><h3>Methods</h3><p>Four electronic databases (PubMed, the Cochrane Library, Science Direct and Cinahl) were searched in January 2024 using some of the following terms: “Multiple Sclerosis” AND “Telerehabilitation” OR “Exergaming” OR” Virtual Reality”. The risk of bias was assessed using the Cochrane Risk of Bias assessment tool. The meta-analysis was conducted using Cochrane Collaboration Review Manager Software (version 5.4.1).</p></div><div><h3>Results</h3><p>Five Randomised Controlled Trials were included with a total sample size of 225 participants who had MS. The meta-analyses found significant statistical and clinical effects of telerehabilitation for both Mobility ((<em>P</em> = 0.02; SMD = 0.41; 95 % CI: 0.05, 0.77) and Balance (<em>P</em> = 0.0001; SMD = 0.64; 95 % CI: 0.31, 0.97) outcomes. Feasibility was found to be >90 %.</p></div><div><h3>Conclusion</h3><p>This review found evidence in favour of telerehabilitation using exergaming and Pilate-based interventions. Further studies are needed with larger sample sizes of high methodological quality. The findings of this review highlight the potential of telerehabilitation to fulfil an unmet need in care pathways which currently exists in MS rehabilitation.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003496/pdfft?md5=ddf05063b29ab646bd9d655681fe8080&pid=1-s2.0-S0022510X24003496-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142172782","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}

引用次数: 0

Potential prognostic value of rheumatoid factor in anti-aquaporin 4-immunoglobin G-positive neuromyelitis optica spectrum disorders 类风湿因子在抗喹诺酮 4-免疫球蛋白 G 阳性神经脊髓炎视网膜频谱疾病中的潜在预后价值。

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-04 DOI: 10.1016/j.jns.2024.123215

{"title":"Potential prognostic value of rheumatoid factor in anti-aquaporin 4-immunoglobin G-positive neuromyelitis optica spectrum disorders","authors":"","doi":"10.1016/j.jns.2024.123215","DOIUrl":"10.1016/j.jns.2024.123215","url":null,"abstract":"<div><h3>Background</h3><p>Neuromyelitis optica spectrum disorder (NMOSD) is the central nervous system demyelinating disease differentiated from multiple sclerosis by the presence of anti-aquaporin 4-antibody (AQP4-ab), which is sometimes accompanied by non-organ-specific autoantibodies.</p></div><div><h3>Methods</h3><p>We prospectively collected clinical information and profiles of non-organ-specific autoantibodies such as fluorescent antinuclear (FANA), anti-Sjögren's syndrome A (SSA)/Ro, anti-SS B (SSB)/La, anti-neutrophil cytoplasmatic (ANCA), lupus anticoagulant (LA), anti-cardiolipin (ACA), anti-double-stranded DNA (dsDNA), rheumatoid factor (RF), anti-thyroperoxidase, and anti-thyroglobulin antibodies in patients with NMOSD. Clinical characteristics and laboratory findings of patients with NMOSD with or without autoantibodies were analyzed. Cox proportional hazard models were used to identify independent risk factors predicting high disability in patients with NMOSD.</p></div><div><h3>Results</h3><p>A total of 158 patients with NMOSD (Female: Male = 146:12; age, 36.11 ± 14.7) were included. FANA was observed most frequently (33.3 %), followed by anti-SSA (28.6 %), anti-SSB (10.0 %), RF (8.5 %), anti-dsDNA (7.0 %), LA (4.7 %), ACA (4.8 %), and ANCA (2.4 %). High disability (Expanded Disability Status Scale (EDSS) score ≥ 6) was observed more frequently in patients with RF (45.5 %) than in those without RF (14.5 %) (<em>p</em> = 0.02). RF was a significant predictive factor for the high disability (hazard ratio [HR], 3.763; 95 % confidence interval [CI], 1.086–13.038; <em>p</em> = 0.037), age at onset (HR, 1.093; 95 % CI, 1.05–1.14; <em>p</em> ≤0.001), and annual relapse rate (ARR) (HR, 4.212; 95 % CI, 1.867–9.503; <em>p</em> = 0.001).</p></div><div><h3>Conclusion</h3><p>Organ-specific and non-organ-specific autoantibodies are frequently observed in Korean patients with AQP4-ab-positive NMOSD. RF may be an independent predictor of high disability, along with age at onset and ARR.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142145898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Myositis -specific and -associated antibodies in neurological disorders - A retrospective study of 727 patients 神经系统疾病中的肌炎特异性抗体和相关抗体--对 727 名患者的回顾性研究

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-03 DOI: 10.1016/j.jns.2024.123213

{"title":"Myositis -specific and -associated antibodies in neurological disorders - A retrospective study of 727 patients","authors":"","doi":"10.1016/j.jns.2024.123213","DOIUrl":"10.1016/j.jns.2024.123213","url":null,"abstract":"<div><h3>Objective</h3><p>Myositis-specific antibodies (MSAs) and myositis-associated antibodies (MAAs) are assessed in clinical neurology, serving as a non-invasive tool for the differential diagnosis of autoimmune myopathies. However, the presence of MSAs and MAAs in neurological disorders remains uncertain.</p></div><div><h3>Methods</h3><p>Retrospective analysis was conducted on 878 serum samples from the neurological laboratory of the University Hospital Tübingen, Germany. The EUROLINE Myositis Profil 3 (IgG) Line Blot was used for antibody evaluation (anti-Mi2, -Ku, -PM-Scl100, -PM-Scl75, -Jo1, -SRP, -PL7, -PL12, -EJ, -OJ, and -Ro52). Samples were categorized into 19 disease groups, with consideration for myositis-linked and non-myositis-linked diseases. Then, the distribution of positive findings and the concurrent presence of more than one MAA/MSA were analyzed.</p></div><div><h3>Results</h3><p>Among 727 included line blots, 84 could be assigned to myositis-linked diseases (thereof 44 positive for MAA/MSA). MAA and MSA taken together were more frequently positive for the main group of myositis-linked disease (52.4 %) compared to the non-myositis-linked group (14.6 %, overall specificity 85.4 %). However, individual antibodies were specific, ranging above 97.5 %. False positive antibody results can also occur in neurological differential diagnoses such as muscle dystrophy or cramp fasciculation syndrome. Furthermore, the concurrent presence of more than one MAA/MSA does not show a significant association with the presence of a myositis-linked disease for antibody-positive samples (<em>p</em> = 0.136).</p></div><div><h3>Discussion</h3><p>Testing MSA and MAA simultaneously may not be suitable as a primary screening method for myositis-linked diseases in clinical neurological groups. However, MSAs and MAAs may offer valuable diagnostic support, particularly in cases where myositis is strongly considered.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003484/pdfft?md5=9801add8618fcbd5da8591212fca52f5&pid=1-s2.0-S0022510X24003484-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142151722","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}

引用次数: 0

Clinical outcomes among patients with concurrent blunt cerebrovascular injury and traumatic intracranial hemorrhage 并发钝性脑血管损伤和外伤性颅内出血患者的临床疗效

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-03 DOI: 10.1016/j.jns.2024.123216

{"title":"Clinical outcomes among patients with concurrent blunt cerebrovascular injury and traumatic intracranial hemorrhage","authors":"","doi":"10.1016/j.jns.2024.123216","DOIUrl":"10.1016/j.jns.2024.123216","url":null,"abstract":"<div><h3>Background</h3><p>Blunt cerebrovascular injury (BCVI) accounts for 1–3 % of patients with blunt trauma, which should be promptly diagnosed and managed due to risk of cerebral infarction and death. Antithrombotic therapy had been proven to reduce risk of stroke and mortality. However, due to concern of hematoma progression, treatment suggestion is still inconclusive for patients with concurrent traumatic intracranial hemorrhage.</p></div><div><h3>Materials and methods</h3><p>We performed a retrospective, observational study from 2002 to 2020 at a Level I trauma center, all patients with BCVI and concurrent traumatic intracranial hemorrhage were recruited. Patients' demographics, initial CT findings, severity of BCVI, treatment and outcomes were documented and analyzed to define possible risk factors of death and stroke.</p></div><div><h3>Results</h3><p>Among all 57 patients, 49 (86.0 %) patients had injury at ICA, 6 (10.5 %) had VA injury, and 2 (3.5 %) suffered from both. Targeted treatments for BCVI were provided to 33 (57.9 %) patient, mostly endovascular intervention (78.8 %), antithrombotic treatment was given to 11 (19.3 %) patients. At 3-month follow-up, 17 (29.8 %) patients expired, and 18 (31.6 %) patients had cerebral infarction due to BCVI. We identified more severe initial CT findings (<em>p</em> = 0.016), higher head Abbreviated Injury Scale (<em>p</em> = 0.049) and initial life-threatening events (<em>p</em> = 0.047) as risk factors of death, and traumatic basal cistern subarachnoid hemorrhage(SAH) (<em>p</em> = 0.040) as single risk factor of cerebral infarction.</p></div><div><h3>Conclusions</h3><p>Around one-thirds of patients with concurrent BCVI and traumatic intracranial hemorrhage were death or suffered from cerebral infarction within 3 months, with severity of initial head injury and SAH at basal cistern as risk factors, respectively.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003514/pdfft?md5=13bbd2d3b68caca6e1875484f8d9b529&pid=1-s2.0-S0022510X24003514-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142161620","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}

引用次数: 0

Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype 按 UNC13A 基因型分层的肌萎缩侧索硬化症患者血清 TDP-43 和神经丝轻链定量。

IF 3.6 3区医学

Journal of the Neurological Sciences Pub Date : 2024-09-02 DOI: 10.1016/j.jns.2024.123210

{"title":"Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype","authors":"","doi":"10.1016/j.jns.2024.123210","DOIUrl":"10.1016/j.jns.2024.123210","url":null,"abstract":"<div><p>Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative condition affecting upper and/or lower motor neurons and characterized neuropathologically by TDP-43 proteinopathy. Given its role in ALS pathobiology, it is currently under debate whether TDP-43 might represent a suitable ALS biomarker to be measured in patients' biofluids. The rs12608932 A > C single nucleotide polymorphism in the <em>UNC13A</em> gene is a risk factor for ALS and patients homozygous for the high-risk C allele display a higher burden of TDP-43 neuropathology than homozygotes for the low-risk A allele, although the association with TDP-43 levels in biofluids has never been evaluated.</p><p>In this study, we measured serum levels of TDP-43 and neurofilament light chain (NFL) by Simoa technology in a cohort of 69 ALS patients stratified according to the <em>UNC13A</em> rs12608932 genotype compared to 43 neurologically healthy controls.</p><p>By multiple linear regression analysis, serum TDP-43 was significantly elevated in ALS patients compared to controls, with <em>UNC13A</em> AA and AC, but not CC, ALS patients showing higher serum TDP-43 levels than controls. We also confirmed that serum NFL concentration was increased in ALS patients, without any correlation with the <em>UNC13A</em> genotype.</p><p>Our results indicate that serum TDP-43 is higher in ALS patients compared to controls and that, in contrast to NFL, this increase is specifically associated with the <em>UNC13A</em> rs12608932 AA and AC genotypes, but not with the high-risk CC genotype. Studies in larger cohorts will be needed to confirm these findings and to elucidate the biological link between serum TDP-43 levels and <em>UNC13A</em> genotype.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003459/pdfft?md5=1b76fd72b5cd0fa34319e93296d30c6f&pid=1-s2.0-S0022510X24003459-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142145899","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}

引用次数: 0