Journal of Neurology, Neurosurgery, and Psychiatry最新文献

{"title":"Serum neuronal pentraxin 2 levels are associated with shorter survival in amyotrophic lateral sclerosis.","authors":"Soha Alali, Jonas Dubin, Frederik Hobin, Shreyasee Das, Charlotte Lambrechts, Erik Stoops, Eugen Vanmechelen, Philip van Damme, Koen Poesen","doi":"10.1136/jnnp-2025-336198","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336198","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple sclerosis from onset to secondary progression: a 30-year Italian register study.","authors":"Aurora Zanghì, Massimiliano Copetti, Carlo Avolio, Damiano Paolicelli, Marzia Anita Lucia Romeo, Francesco Patti, Giovanna De Luca, Maria Pia Amato, Simonetta Galgani, Patrizia Sola, Giuseppe Salemi, Paolo Gallo, Franco Granella, Silvia Romano, Mauro Zaffaroni, Roberto Bergamaschi, Carlo Pozzilli, Giacomo Lus, Marika Vianello, Maria Trojano, Emanuele D'Amico","doi":"10.1136/jnnp-2025-335958","DOIUrl":"https://doi.org/10.1136/jnnp-2025-335958","url":null,"abstract":"<p><strong>Background: </strong>Three decades have passed since the initial approval of disease-modifying therapies (DMTs). Ongoing discussion is focused on fundamental aspects of the disease, highlighting a growing division between successes in managing relapsing multiple sclerosis (MS) and the persistent challenges posed by disease progression.</p><p><strong>Methods: </strong>A cohort study on prospectively acquired data from the Italian MS register. The primary outcome was to describe the MS disease course from onset to secondary progression (SP) defined according to a data-driven algorithm over 30 years follow-up and according to five different eras of disease onset.</p><p><strong>Results: </strong>A total cohort of 9958 patients was analysed; 1364 converted to SP after a mean of 8.5 (SD 5.5) years. A higher rate of patients converting to SP had never been exposed to DMTs (135, 9.9% vs 424, 5.2%) than non-converting ones. The treatment coverage was also lower in patients converting to SP than non-converting ones 58.4 (SD 31.5) vs 73.6 (SD 27.6).The SP incidence rate was 1.26 (95% CI 1.19 to 1.32) overall. The rates showed a downward trend among the different eras: from 1st era 1.98 (95% CI 1.73 to 2.27) to 5th era 1.15 (95% CI 0.97 to 1.35).In the multivariable Cox model, 10% increase of treatment coverage was associated to 19% lower risk to convert to SP (10%, HR 0.89, 95% CI 0.87 to 0.90).</p><p><strong>Conclusions: </strong>This 30-year analysis suggests that SP conversion rates have decreased over time, partially explained by improvements in therapeutic coverage. Future research should adopt a multifaceted approach to develop more comprehensive models of disease progression.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurological manifestations of immunoglobulin G₄ related disease: a systematic review of 393 cases.","authors":"Yau Zane Justin Ng, Scarlett Bowen, Jenna Phillips, Mugil Rajasekaran, Shi Sheng Lu, Bruce V Taylor","doi":"10.1136/jnnp-2025-336230","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336230","url":null,"abstract":"<p><strong>Background: </strong>Immunoglobulin G₄ (IgG₄) related disease (RD) is a multisystem, immunologically mediated disease discovered within the last two decades. Within the nervous system, a broad range of both central and peripheral nervous system involvement has been reported. We aimed to systematically review the neurological manifestations of IgG₄-RD.</p><p><strong>Aim: </strong>To identify the clinical presentation, radiological findings, diagnostic methods, treatment and outcomes for neurological manifestations of IgG₄-RD.</p><p><strong>Methods: </strong>We systematically reviewed the literature to identify all reports of neurological manifestations of IgG₄-RD. Data on neurological manifestations, non-neurological manifestations, clinical presentation, radiological findings, diagnostic methods, treatment modalities and outcomes were extracted.</p><p><strong>Results: </strong>We identified 393 cases from 297 publications meeting the inclusion criteria. Hypertrophic pachymeningitis, IgG₄-related orbital disease and hypophysitis are the most common neurological manifestations of IgG₄-RD. Diagnostic evaluation involves testing for concomitant non-neurological manifestations, an MRI with gadolinium contrast, measurement of serum IgG₄ levels and a biopsy with specific staining for IgG₄ positive plasma cells. Treatment with corticosteroids leads to favourable outcomes.</p><p><strong>Conclusions: </strong>IgG₄-RD is an emerging neurological disease that can manifest in multiple ways within the nervous system. It is important to recognise as treatment is often successful.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Object naming after epilepsy surgery in the dominant left temporal lobe: risk factors, time course and long-term outcome.","authors":"Katrin Walther, Caroline Reindl, Michael Schwarz, Stephanie Gollwitzer, Burkhard S Kasper, Johannes Dominik Lang, Jenny Stritzelberger, Sebastian Brandner, Karl Rössler, Yining Zhao, Arnd Dörfler, Hajo M Hamer","doi":"10.1136/jnnp-2024-334491","DOIUrl":"10.1136/jnnp-2024-334491","url":null,"abstract":"<p><strong>Background: </strong>Deterioration in naming function is a common sequelae after epilepsy surgery in the language-dominant temporal lobe but information on recovery and long-term outcome is scarce. We, therefore, assessed short-term and long-term outcome of object naming in patients undergoing surgery in the temporal lobe and determined factors affecting deterioration and recovery of naming function.</p><p><strong>Method: </strong>Object naming (Boston naming test) before surgery, at early follow-up (FU, 6-12 months) and late FU (≥2 years) was assessed in people with epilepsy (PWE) undergoing resections in the language-dominant left and non-dominant right temporal lobe.</p><p><strong>Results: </strong>Sixty-six patients with left temporal lobe epilepsy (LTLE) and 87 control patients with right temporal lobe epilepsy (RLTE) were included. At early FU, 28 patients with LTLE (42%) and three patients with RTLE (3%) showed a significant naming decline. In patients with LTLE, risk for deterioration increased with lower verbal memory before surgery, older age at seizure onset and was particularly high with posterior temporal resections (≥40 mm from the temporal pole) and seizure onset >16 years. Of the patients with LTLE with early naming decline, 11 patients (39%) recovered fully in their naming abilities at late FU, averaging almost 10 years. Recovery was associated with the degree of postoperative naming decline at early FU. PWE with a decline of less than 10 items (<20%) had a good prognosis of recovery at late FU. Postoperative seizure control had no significant effect on recovery.</p><p><strong>Conclusions: </strong>In our cohort, less than 50% of PWE showed significantly deteriorated naming function after resection of the dominant temporal lobe. If a decline occurred, it appeared to recover to a certain degree and remained as a permanent deficit in 26% of the patients. Long-term outcome of visual object naming can be predicted by the degree of early postoperative decline.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"630-638"},"PeriodicalIF":8.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurotoxic complications of chimeric antigen receptor (CAR) T-cell therapy.","authors":"Frederick W Vonberg, Imran Malik, Maeve O'Reilly, Harpreet Hyare, Aisling S Carr, Claire Roddie","doi":"10.1136/jnnp-2024-333924","DOIUrl":"10.1136/jnnp-2024-333924","url":null,"abstract":"<p><p>Chimeric antigen receptor (CAR) T-cell therapy has revolutionised the treatment of haematological malignancies and has demonstrated efficacy in early trials for solid tumours, neurological and rheumatological autoimmune diseases. However, CAR-T is complicated in some patients by neurotoxicity syndromes including immune-effector cell-associated neurotoxicity syndrome, and the more recently described movement and neurocognitive treatment-emergent adverse events, and tumour inflammation-associated neurotoxicity. These neurotoxic syndromes remain poorly understood and are associated with significant morbidity and mortality. A multidisciplinary approach, including neurologists, haematologists and oncologists, is critical for the diagnosis and management of CAR-T neurotoxicity. This approach will be of increasing importance as the use of CAR-T expands, its applications increase and as novel neurotoxic syndromes emerge.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"665-678"},"PeriodicalIF":8.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Apheresis therapies in MOGAD: a retrospective study of 117 therapeutic interventions in 571 attacks.","authors":"Carolin Schwake, Theodoros Ladopoulos, Vivien Häußler, Ingo Kleiter, Marius Ringelstein, Orhan Aktas, Tania Kümpfel, Daniel Engels, Joachim Havla, Martin W Hümmert, Julian Reza Kretschmer, Daria Tkachenko, Corinna Trebst, Ana Beatriz Ayroza Galvão Ribeiro Gomes, Anne-Katrin Pröbstel, Mirjam Korporal-Kuhnke, Brigitte Wildemann, Sven Jarius, Refik Pul, Mosche Pompsch, Markus Krämer, Florian Then Bergh, Clemens Gödel, Patricia Schwarz, Markus C Kowarik, Paulus Stefan Rommer, Ioannis Vardakas, Makbule Senel, Alexander Winkelmann, Nele Retzlaff, Martin S Weber, Leila Husseini, Annette Walter, Patrick Schindler, Judith Bellmann-Strobl, Friedemann Paul, Ralf Gold, Ilya Ayzenberg","doi":"10.1136/jnnp-2024-334863","DOIUrl":"10.1136/jnnp-2024-334863","url":null,"abstract":"<p><strong>Background: </strong>Incomplete attack remission is the main cause of disability in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). Apheresis therapies such as plasma exchange and immunoadsorption are widely used in neuroimmunology. Data on apheresis outcomes in MOGAD attacks remain limited.</p><p><strong>Methods: </strong>We retrospectively evaluated all apheresis treated attacks occurring in patients with MOGAD between 2008 and 2023 at 18 Neuromyelitis Optica Study Group centres. Treatment response was categorised as complete, partial or no remission. Preattack and follow-up Expanded Disability Status Scale (EDSS) and visual Functional System Scores (FSS) were used to calculate absolute outcomes (ΔEDSS/Δvisual FSS). Predictors of complete remission were analysed using a generalised linear mixed model.</p><p><strong>Results: </strong>Apheresis was used for 117/571 (20.5%) attacks in 85/209 (40.7%) patients. Attacks with simultaneous optic neuritis and myelitis were treated more often with apheresis (42.4%, n=14) than isolated myelitis (25.2%, n=35), cerebral manifestation (21.0%, n=17) or isolated optic neuritis (17.6%, n=51). Apheresis was initiated as first-line therapy in 12% (4.5 (IQR 0-11) days after attack onset), second-line therapy in 62% (15 (IQR 6.75-31) days) and third-line therapy in 26% (30 (IQR 19-42) days). Complete remission was achieved in 21%, partial remission in 70% and no remission in 9% of patients. First-line apheresis (OR 2.5, p=0.040) and concomitant disease-modifying therapy (OR 1.5, p=0.011) were associated with complete remission. Both parameters were also associated with a favourable ΔEDSS. No differences in outcomes were observed between the apheresis types.</p><p><strong>Conclusion: </strong>Apheresis is frequently used in MOGAD attacks. An early start as first-line therapy and concomitant disease-modifying therapy predict full attack recovery.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"639-646"},"PeriodicalIF":8.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in the prognosis of CADASIL over time: a 23-year study in 555 individuals.","authors":"Nontapat Sukhonpanich, Fatemeh Koohi, Amy A Jolly, Hugh S Markus","doi":"10.1136/jnnp-2024-334823","DOIUrl":"10.1136/jnnp-2024-334823","url":null,"abstract":"<p><strong>Background: </strong>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of stroke and is associated with early-onset stroke and dementia. Whether its clinical phenotype is becoming milder with better risk factor treatments and other care improvements is unknown. In a large longitudinal CADASIL cohort, we determined whether the prognosis has changed over 23 years.</p><p><strong>Methods: </strong>Patients were identified from the Cambridge CADASIL register and the UK Familial stroke study. Change in age at stroke over the time of recruitment was determined using linear mixed-effects model, and the impact of genetic and vascular risk factors on stroke and dementia risk was further evaluated using Cox proportional hazard regression.</p><p><strong>Results: </strong>A total of 555 patients with CADASIL were recruited between 2001 and 2023. The age of stroke onset significantly increased over time (p<0.001), with the mean age of stroke onset for patients recruited before 2016 (n=265) at 46.7±9.2 years and 51.6±9.5 years for those recruited since 2016 (n=290). Patients recruited since 2016 had lower risks of both stroke (HR 0.36, 95% CI 0.26 to 0.50, p<0.001) and dementia (HR 0.43, 95% CI 0.19 to 0.99, p=0.046) after adjusting for sex, hypertension history, smoking status, epidermal growth factor-like repeat position and calendar effect.</p><p><strong>Conclusions: </strong>The clinical phenotype of CADASIL is improving. While this may be partly explained by reduced vascular risk factors such as smoking and the identification of milder cases, differences persisted after controlling for risk factors and mutation sites. These updated risk estimates should be used when counselling patients with CADASIL on prognosis.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"690-696"},"PeriodicalIF":8.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of the Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence of people living with dementia: a multicentre, pragmatic, randomised, open-label, controlled trial.","authors":"Yun-Hee Jeon, Judy Simpson, Judith Fethney, Luisa Krein, Mirim Shin, Lee-Fay Low, Robert T Woods, Loren Mowszowski, Sarah Hilmer, Sharon L Naismith, Lindy Clemson, Henry Brodaty, Vasi Naganathan, Amanda Miller Amberber, Danelle Kenny, Laura Gitlin, Sarah Szanton","doi":"10.1136/jnnp-2024-334514","DOIUrl":"10.1136/jnnp-2024-334514","url":null,"abstract":"<p><strong>Background: </strong>We investigated the effectiveness of an Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence, health and well-being of people with dementia, family carer outcomes and costs.</p><p><strong>Method: </strong>A multicentre pragmatic parallel-arm randomised controlled trial compared I-HARP to usual care in community-dwelling people with mild to moderate dementia and their family carers in Sydney, Australia (2018-2022). I-HARP is a 4-month, home-based, dementia rehabilitation model delivered by an interdisciplinary team. Assessments were conducted at baseline (time-1), 4-month (time-2) and 12-month (time-3) follow-up. The primary outcome measure was the client's functional independence using the Disability Assessment for Dementia (DAD) scale at time-2, based on intention-to-treat analyses.</p><p><strong>Result: </strong>Of 130 recruited client-carer dyads, 116 dyads (58/group) completed the trial. The I-HARP group were not significantly better in most outcome measures than usual care at both time-2 and time-3; with the only statistically significant difference being a reduction in home environment hazards at time-2. Post hoc subgroup analysis of 66 clients with mild dementia found significantly better functional independence in the intervention group compared with those in usual care: difference 8.99 on DAD (95% CI 1.21, 16.79) at time-2 and difference 12.16 (95% CI 1.93, 22.38) at time-3. Economic evaluation suggests potentially lower resource use in I-HARP compared with usual care, but the cost-effectiveness is uncertain.</p><p><strong>Conclusion: </strong>Primary outcomes were not met for a population of people with dementia, with severity ranging from mild to moderate and severe. The I-HARP model appeared to benefit functional independence of participants with mild dementia, with potential cost savings.</p><p><strong>Trial registration number: </strong>ACTRN12618000600246.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"705-715"},"PeriodicalIF":8.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of seizure control during pregnancy with adverse offspring outcomes in women with epilepsy.","authors":"Yutong Fu, Fanfan Shi, Leihao Sha, Weihong Lin, Ying Ma, Hua Yan, Pei Wang, Jiajia Fang, Qun Huang, Fang Chen, Xiaoyi Li, Yun Li, Changqing Liu, Qingxia Kong, Hua Huang, Qi Zhang, Rong Mei, Yuan Wu, Shixu He, Yanbing Han, Hua Zhang, Bo Xiao, Kuiyun Wang, Zhanghui Peng, Xi Zhu, Jian Wang, Xunyi Wu, Yanmei Zhu, Ting Wu, Xuelian He, Haizhi Guo, Ming Yu, Min Zhong, Qing Zhang, Xiangshu Hu, Yan Su, Mei Zou, Jian Zhou, Yaqing Liu, Bozhong Pu, Chonglun Guo, Qin Feng, Jing Gao, Wanhui Lin, Torbjörn Tomson, Lei Chen","doi":"10.1136/jnnp-2024-335751","DOIUrl":"10.1136/jnnp-2024-335751","url":null,"abstract":"<p><strong>Background: </strong>Information on fetal risks with maternal seizures during pregnancy is scarce. This study investigates seizure control during pregnancy and fetal risks associated with maternal seizures in different stages of pregnancy among pregnant women with epilepsy (PWWE).</p><p><strong>Methods: </strong>The nested case-control study enrolled PWWE between 2009 and 2023 in China. Information was obtained on maternal seizures, antiseizure medication (ASM), folic acid supplementation and pregnancy outcomes. The primary outcome was composite including major congenital malformations (MCMs), neurodevelopmental delay, low birth weight (LBW) and fetal death. Univariate and multivariate logistic regression analyses were conducted to adjust for ASM effects and other confounders.</p><p><strong>Results: </strong>Among 1110 pregnancies from 934 PWWE included, 56.6% experienced seizures. Seizure deterioration during pregnancy compared with prepregnancy was observed in 25.9% of pregnancies, while 20.9% experienced worsening seizures from the first to second or third trimesters. Seizures (adjusted OR (aOR) 1.472, 95% CI 1.024 to 2.137), particularly status epilepticus (aOR 2.906, 95% CI 1.364 to 5.93), generalised tonic-clonic seizures (aOR 1.581, 95% CI 1.066 to 2.354) and seizure deterioration (aOR 1.829, 95% CI 1.233 to 2.69) were associated with composite adverse outcomes. Specifically, seizures occurring (aOR 2.324, 95% CI 1.320 to 4.084) or deteriorating (aOR 2.396, 95% CI 1.471 to 3.866) during second and third trimesters were associated with the risk of LBW. No significant association was found between seizures and MCMs.</p><p><strong>Conclusions: </strong>While nearly half of PWWE remain seizure-free during pregnancy, those who do experience seizures face increased risks of adverse offspring outcomes. For PWWE, every effort should be made to optimise seizure control in order to minimise risks to both mother and child.</p><p><strong>Trial registration number: </strong>ChiCTR2100046318.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"621-629"},"PeriodicalIF":8.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"miRNA-214 to predict progression and survival in ALS.","authors":"Min-Young Noh, Min-Soo Kwon, Ki-Wook Oh, Minyeop Nahm, Jinseok Park, Hee Kyung Jin, Jae-Sung Bae, Bugyeong Son, Seung Hyun Kim","doi":"10.1136/jnnp-2024-335177","DOIUrl":"10.1136/jnnp-2024-335177","url":null,"abstract":"<p><strong>Background: </strong>Reliable biomarkers are essential for predicting the progression speed and prognosis of patients with amyotrophic lateral sclerosis (ALS). We previously identified NCK-associated protein 1 (NCKAP1) as a critical factor in the defective phagocytosis observed in induced microglia-like cells (iMGs) from patients with rapidly progressive sporadic ALS. This study explored the roles of microRNA (miRNA)-214, which targets the <i>NCKAP1</i> gene, in the progression of ALS.</p><p><strong>Methods: </strong>The discovery cohort (n=29) was used to identify miR-214 targeting <i>NCKAP1</i> genes. The validation cohort (n=132) was used to determine the clinical usability of miR-214 for predicting disease progression speed and survival time.</p><p><strong>Results: </strong>In the discovery cohort, miR-214 levels were increased in plasma and iMGs from rapidly progressive ALS participants. This finding was validated in another cohort of 132 ALS participants and 30 age-matched healthy volunteers. Plasma miR-214 levels correlated with disease progression, severity and survival, distinguishing between rapidly progressive and slowly progressive ALS. In addition, miR-214 levels also correlated with plasma neurofilament light chain (NfL) and cerebrospinal fluid inflammatory cytokines, showing specific associations with increased NfL and monocyte chemoattractant protein 1 (MCP-1). Survival prediction accuracy improved when miR-214 levels were considered with NfL or MCP-1 levels.</p><p><strong>Conclusions: </strong>Plasma miRNA-214 could serve as a novel biomarker for predicting the progression and prognosis of ALS.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"716-720"},"PeriodicalIF":8.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}