Hamza Salim, Dawoud Hamdan, Nimer Adeeb, Sandeep Kandregula, Assala Aslan, Basel Musmar, Christopher S Ogilvy, Adam A Dmytriw, Ahmed Abdelsalam, Cagdas Ataoglu, Ufuk Erginoglu, Douglas Kondziolka, Kareem El Naamani, Jason Sheehan, Natasha Ironside, Deepak Kumbhare, Sanjeev Gummadi, Muhammed Amir Essibayi, Salem M Tos, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Arwin Rezai, Omar Alwakaa, Johannes Pöppe, Rajeev D Sen, Mustafa K Baskaya, Christoph J Griessenauer, Pascal Jabbour, Stavropoula I Tjoumakaris, Elias Atallah, Howard Riina, Abdallah Abushehab, Christian Swaid, Jan-Karl Burkhardt, Robert M Starke, Laligam N Sekhar, Michael R Levitt, David J Altschul, Neil Haranhalli, Malia McAvoy, Adib Abla, Christopher Stapleton, Matthew J Koch, Visish M Srinivasan, Peng Roc Chen, Spiros Blackburn, Joseph Cochran, Omar Choudhri, Bryan Pukenas, Darren B Orbach, Edward R Smith, Markus Moehlenbruch, Pascal J Mosimann, Ali Alaraj, Mohammad Ali Aziz-Sultan, Aman B Patel, Vivek Yedavalli, Max Wintermark, Amey Savardekar, Hugo H Cuellar, Michael T Lawton, Jacques J Morcos, Bharat Guthikonda
{"title":"Efficacy and safety of preoperative embolization in surgical treatment of brain arteriovenous malformations: a multicentre study with propensity score matching.","authors":"Hamza Salim, Dawoud Hamdan, Nimer Adeeb, Sandeep Kandregula, Assala Aslan, Basel Musmar, Christopher S Ogilvy, Adam A Dmytriw, Ahmed Abdelsalam, Cagdas Ataoglu, Ufuk Erginoglu, Douglas Kondziolka, Kareem El Naamani, Jason Sheehan, Natasha Ironside, Deepak Kumbhare, Sanjeev Gummadi, Muhammed Amir Essibayi, Salem M Tos, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Arwin Rezai, Omar Alwakaa, Johannes Pöppe, Rajeev D Sen, Mustafa K Baskaya, Christoph J Griessenauer, Pascal Jabbour, Stavropoula I Tjoumakaris, Elias Atallah, Howard Riina, Abdallah Abushehab, Christian Swaid, Jan-Karl Burkhardt, Robert M Starke, Laligam N Sekhar, Michael R Levitt, David J Altschul, Neil Haranhalli, Malia McAvoy, Adib Abla, Christopher Stapleton, Matthew J Koch, Visish M Srinivasan, Peng Roc Chen, Spiros Blackburn, Joseph Cochran, Omar Choudhri, Bryan Pukenas, Darren B Orbach, Edward R Smith, Markus Moehlenbruch, Pascal J Mosimann, Ali Alaraj, Mohammad Ali Aziz-Sultan, Aman B Patel, Vivek Yedavalli, Max Wintermark, Amey Savardekar, Hugo H Cuellar, Michael T Lawton, Jacques J Morcos, Bharat Guthikonda","doi":"10.1136/jnnp-2024-334974","DOIUrl":"https://doi.org/10.1136/jnnp-2024-334974","url":null,"abstract":"<p><strong>Background: </strong>Brain arteriovenous malformations (AVMs) are abnormal connections between feeding arteries and draining veins, associated with significant risks of haemorrhage, seizures and other neurological deficits. Preoperative embolization is commonly used as an adjunct to microsurgical resection, with the aim of reducing intraoperative complications and improving outcomes. However, the efficacy and safety of this approach remain controversial.</p><p><strong>Methods: </strong>This study is a subanalysis of the Multicenter International Study for Treatment of Brain AVMs consortium. We retrospectively analysed 486 patients with brain AVMs treated with microsurgical resection between January 2010 and December 2023. Patients were divided into two groups: those who underwent microsurgery alone (n=245) and those who received preoperative embolization, followed by microsurgery (n=241). Propensity score matching was employed, resulting in 288 matched patients (144 in each group). The primary outcomes were rates of complete AVM obliteration and functional outcomes (measured by the modified Rankin Scale (mRS)). Secondary outcomes included complication rates, mortality, hospital length of stay and postsurgical rupture.</p><p><strong>Results: </strong>After matching, the complete obliteration rate was 97% with no significant difference between the microsurgery-only group and the preoperative embolization group (p=0.12). The proportion of patients with an mRS score of 0-2 at the last follow-up was similar in both groups (83% vs 84%; p=0.67). The median hospital stay was significantly longer for the embolisation group (9 days vs 7 days; p=0.017). Complication rates (24% vs 22%; p=0.57) and mortality rates (4.9% vs 2.1%; p=0.20) were comparable between the two groups. No significant differences were observed in postsurgical rupture, recurrence or retreatment rates.</p><p><strong>Conclusions: </strong>In this large multicentre study, preoperative embolization did not significantly improve AVM obliteration rates, functional outcomes or reduce complications compared with microsurgery alone.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365090","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}
Min-Young Noh, Min-Soo Kwon, Ki-Wook Oh, Minyeop Nahm, Jinseok Park, Hee Kyung Jin, Jae-Sung Bae, Bugyeong Son, Seung Hyun Kim
{"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":"https://doi.org/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":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-06","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}
Michael Benatar, Terry D Heiman-Patterson, Johnathan Cooper-Knock, Daniel Brickman, Kaitlin B Casaletto, Stephen A Goutman, Marco Vinceti, Laynie Dratch, Jalayne J Arias, Jean Swidler, Martin R Turner, Jeremy Shefner, Henk-Jan Westeneng, Leonard H van den Berg, Ammar Al-Chalabi
{"title":"Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD.","authors":"Michael Benatar, Terry D Heiman-Patterson, Johnathan Cooper-Knock, Daniel Brickman, Kaitlin B Casaletto, Stephen A Goutman, Marco Vinceti, Laynie Dratch, Jalayne J Arias, Jean Swidler, Martin R Turner, Jeremy Shefner, Henk-Jan Westeneng, Leonard H van den Berg, Ammar Al-Chalabi","doi":"10.1136/jnnp-2024-334339","DOIUrl":"10.1136/jnnp-2024-334339","url":null,"abstract":"<p><p>There is a growing understanding of the presymptomatic stages of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and nascent efforts aiming to prevent these devastating neurodegenerative diseases have emerged. This progress is attributable, in no small part, to the altruism of people living with pathogenic variants at elevated genetic risk for ALS/FTD via their willingness to participate in natural history studies and disease prevention trials. Increasingly, this community has also highlighted the urgent need to develop paradigms for providing appropriate clinical care for those at elevated risk for ALS and FTD. This manuscript summarises recommendations emanating from a multi-stakeholder Workshop (Malvern, Pennsylvania, 2023) that aimed to develop guidance for at-risk carriers and their treating physicians. Clinical care recommendations span genetic testing (including counselling and sociolegal implications); monitoring for the emergence of early motor, cognitive and behavioural signs of disease; and the use of Food and Drug Administration-approved small molecule drugs and gene-targeting therapies. Lifestyle recommendations focus on exercise, smoking, statin use, supplement use, caffeine intake and head trauma, as well as occupational and environmental exposures. While the evidence base to inform clinical and lifestyle recommendations is limited, this guidance document aims to appraise carriers and clinicians of the issues and best available evidence, and also to define the research agenda that could yield more evidence-informed guidelines.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687294","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}
Alena Stasenko, Erik Kaestner, Jonathan Rodriguez, Christopher Benjamin, F Scott Winstanley, Leigh Sepeta, Jessica Horsfall, Susan Y Bookheimer, Jerry J Shih, Marc A Norman, Amanda Gooding, Carrie R McDonald
{"title":"Neural (re)organisation of language and memory: implications for neuroplasticity and cognition.","authors":"Alena Stasenko, Erik Kaestner, Jonathan Rodriguez, Christopher Benjamin, F Scott Winstanley, Leigh Sepeta, Jessica Horsfall, Susan Y Bookheimer, Jerry J Shih, Marc A Norman, Amanda Gooding, Carrie R McDonald","doi":"10.1136/jnnp-2024-333871","DOIUrl":"https://doi.org/10.1136/jnnp-2024-333871","url":null,"abstract":"<p><strong>Background: </strong>In the presence of neurological insult, how language and memory networks jointly reorganise provides insights into mechanisms of neuroplasticity and can inform presurgical planning. As (re)organisation is often studied within a single cognitive modality, how language and memory interact during (re)organisation in response to epilepsy and the implications for memory outcomes is less clear. We investigated (1) the rates and patterns of joint (re)organisation and (2) their associations with pre- and postsurgical memory function.</p><p><strong>Methods: </strong>Individuals with epilepsy (n=162) from three neurosurgical centres underwent the Wada procedure. We examined colateralisation patterns (ie, concordance/discordance) between language and both global and verbal memory (n=34), and associations with clinical characteristics and preoperative and postoperative memory outcomes.</p><p><strong>Results: </strong>Overall concordance between language and memory colateralisation was minimal-to-weak across both global memory and verbal memory (kappa=0.28-0.44). Discordance was primarily observed in individuals with left-lateralised language, of whom 52% and 32% showed discordance in global and verbal memory, respectively. Discordance was most pronounced in left hemisphere epilepsy and mesial temporal sclerosis. Conversely, right-lateralised language consistently predicted right-lateralised memory (95%-100%), regardless of seizure laterality or memory type. While discordance was not associated with presurgical memory function, discordance predicted superior postsurgical memory outcomes following surgery in the language-dominant hemisphere (p<0.05; η<sub>p</sub> <sup>2</sup>=0.30).</p><p><strong>Conclusions: </strong>When language dominance is atypical, memory tends to colateralise. However, when language remains typical, concordance with memory is weak, particularly for left hemisphere seizure onset. An interhemispheric shift in language may trigger a shift in memory, possibly to maintain efficient communication between medial temporal and neocortical language networks. In contrast, memory appears able to reorganise in isolation, with discordance predicting better postsurgical memory outcomes without detriment to presurgical function. Our findings support the continued need for separate presurgical mapping of language and memory lateralisation, particularly in the case of typical language dominance and left hemisphere seizures.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074860","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":"Cognitive changes in patients with relapse-free MS treated with high efficacy therapies: the predictive value of paramagnetic rim lesions.","authors":"Vincenzo Daniele Boccia, Elisa Leveraro, Emilio Cipriano, Caterina Lapucci, Tommaso Sirito, Maria Cellerino, Giacomo Rebella, Lorenza Nasone, Giacomo Boffa, Matilde Inglese","doi":"10.1136/jnnp-2024-335144","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335144","url":null,"abstract":"<p><strong>Background: </strong>High-efficacy disease-modifying therapies (HETs) have substantially improved multiple sclerosis (MS) management, yet ongoing cognitive decline remains a concern. This study aims to assess Symbol Digit Modalities Test (SDMT) changes in patients with stable relapsing-remitting MS (RRMS) treated with HETs and to evaluate the role of baseline MRI biomarkers as predictors of SDMT changes.</p><p><strong>Methods: </strong>Consecutive patients with RRMS treated with HETs underwent clinical, SDMT and MRI assessment at baseline with SDMT and clinical re-evaluation after 24 months. Patients presenting relapses or MRI activity (new T2 and/or gadolinium-enhancing lesions) during follow-up were excluded. Cognitive changes were defined using the 90% CI regression-based reliable change index methodology accounting for sex, age, education and baseline score. Baseline MRI examination included three-dimensional-sagittal Fluid Attenuated Inversion Recovery (FLAIR), T1-Magnetization Prepared - RApid Gradient Echo (T1-MPRAGE) and quantitative susceptibility mapping (QSM) for paramagnetic rim lesions (PRLs) and QSM-isointense lesions (ISO) assessment. Univariate and multivariable regression analyses were performed to predict SDMT changes.</p><p><strong>Results: </strong>90 patients (mean age: 40.3 years, median Expanded Disability Status Scale: 2.0) were included. PRLs were present in 46 (51.1%) patients. After 24 months, 13 (14.4%) patients showed SDMT decline and 8 (8.9%) showed improvement. At multivariable analyses, PRLs were associated with higher risk of SDMT decline (β: 2.70, p: 0.02, OR: 14.82) while higher ISO lesion volumes were weakly associated with SDMT improvement (β: 0.07, p: 0.01, OR: 1.07).</p><p><strong>Conclusions: </strong>SDMT decline and improvement are detectable in patients with RRMS without clinical or MRI activity over 2 years. PRLs seem to predict SDMT decline in MS, underscoring the critical role of compartmentalised chronic inflammation in disease progression.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074858","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}
Sara A Finkelstein, Clare Diamond, Alan Carson, Jon Stone
{"title":"Incidence and prevalence of functional neurological disorder: a systematic review.","authors":"Sara A Finkelstein, Clare Diamond, Alan Carson, Jon Stone","doi":"10.1136/jnnp-2024-334767","DOIUrl":"10.1136/jnnp-2024-334767","url":null,"abstract":"<p><strong>Background: </strong>Robust epidemiological data regarding population incidence and prevalence of functional neurological disorder (FND) would be helpful with regards to resource allocation and planning for this disorder, particularly given high symptom burden and high healthcare utilisation. We therefore aimed to systematically review and synthesise available data on FND incidence and prevalence.</p><p><strong>Methods: </strong>PubMed was searched to identify original research articles that reported on the incidence or prevalence of FND. Risk of bias assessment for each study was conducted. Incidence and prevalence rates of FND were additionally estimated by extrapolating data from low risk of bias studies on functional seizures alone.</p><p><strong>Results: </strong>Thirty-nine articles were included. Nineteen reported on FND incidence, 21 reported on prevalence. Comparison between studies was difficult due to methodological differences and significant heterogeneity of incidence and prevalence estimates was found. The incidence of FND was estimated at 10-22/100 000, while minimum prevalence of FND was estimated at 80-140/100 000, with a possible range of 50-1600/100 000. Incidence of paediatric FND was estimated to be between 1 and 18/100 000.</p><p><strong>Conclusions: </strong>The range of incidence and prevalence varies widely across studies, with significant heterogeneity among studies and most studies likely provide underestimates due to methodological challenges. However, using our best method as a conservative estimate, there are likely a minimum of 50-100 000 people with FND in the UK, as an example country. Given that FND appears to be more prevalent than many other well-known and well-funded neurological disorders, incidence and prevalence data suggested here indicate the need for greater research and clinical funding allocation to FND programmes.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813347","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}
Julie Werenberg Dreier, Betina B Trabjerg, Kasper Lolk, Oleguer Plana-Ripoll, Jakob Christensen
{"title":"Working years lost in people with epilepsy: a population-based cohort study.","authors":"Julie Werenberg Dreier, Betina B Trabjerg, Kasper Lolk, Oleguer Plana-Ripoll, Jakob Christensen","doi":"10.1136/jnnp-2024-335220","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335220","url":null,"abstract":"<p><strong>Background: </strong>We quantify the loss of working years for people with epilepsy compared with the general population and consider variation by aetiology, psychiatric comorbidity, sex and age.</p><p><strong>Methods: </strong>This population-based cohort study included all individuals aged 18-65 years living in Denmark from 1995 to 2018. Using nationwide registers since 1977, we identified people with epilepsy and obtained information on the main source of income or employment for each year during follow-up from 1995 to 2020. The main outcome was number of working years lost in people with epilepsy compared with the general population of same sex and age, capturing both working life lost due to permanent (death, disability pension, early retirement) and temporary (unemployment, sick leave) factors.</p><p><strong>Results: </strong>The study comprised 5 466 140 individuals, including 74 980 (1.4%) with epilepsy. In people with epilepsy, the number of working years was on average reduced by 6.6 (95% CI: 6.5 to 6.7) years compared with the general population, largely due to disability pension (4.8 years, 95% CI: 4.7 to 4.9) and premature death (1.6 years, 95% CI: 1.6 to 1.7). Loss of working life was more pronounced in those with a presumed underlying aetiology (9.0 years (95% CI: 8.9 to 9.2) vs 5.4 years (95% CI: 5.2 to 5.5) in those with unknown aetiology), those with psychiatric comorbidity (14.5 years (95% CI: 14.2 to 14.7) vs 5.6 years (95% CI: 5.5 to 5.7) in those without), men (7.2 years (95% CI: 7.1 to 7.3) vs 5.9 (95% CI: 5.8 to 6.0) years in women) and people with early onset of epilepsy (eg, 11.5 years (95% CI: 11.3 to 11.7) among those with onset <20 years).</p><p><strong>Conclusions: </strong>Epilepsy was associated with significant loss of working life resulting from both disability and premature death.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029090","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}
Grace Gombolay, Laura Johnson, Rachel King, Madeleine Hebert, Brenda Banwell, Tanuja Chitnis, Anne Helme
{"title":"Worldwide epidemiology of paediatric multiple sclerosis: data from the Multiple Sclerosis International Federation Atlas of MS, third edition.","authors":"Grace Gombolay, Laura Johnson, Rachel King, Madeleine Hebert, Brenda Banwell, Tanuja Chitnis, Anne Helme","doi":"10.1136/jnnp-2024-335175","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335175","url":null,"abstract":"<p><strong>Background: </strong>Limited data are available on the global rates of paediatric multiple sclerosis. Here, we report on the estimated worldwide prevalence of paediatric MS.</p><p><strong>Methods: </strong>We included paediatric prevalence data in 2020-2022 (Multiple Sclerosis International Federation Atlas of MS) and the prevalence of child neurologists (International Child Neurology Association). Data were split into prevalence bands per 100 000. Countries were classified by the WHO Region and World Bank Income. Descriptive analyses were performed. An estimated worldwide prevalence rate was calculated from the 2020-2022 paediatric prevalence data, which was adjusted to reduce outliers' impact and to reflect worldwide income distribution. The Atlas of MS data was obtained via survey of coordinators from the countries who use different tracking methods including national registries vs crude estimates.</p><p><strong>Results: </strong>Paediatric data were available in 24% (53/219) countries (38 higher and 15 lower income) with 31 420 total paediatric MS cases. In 2022, 67% (10/15) of lower income countries reported prevalence bands of '<1.0' compared with 34% (13/38) of higher income countries. Only 7% (1/15) of lower income countries reported prevalence bands '≥3.1'compared with 34% (13/38) of higher income countries. The rates of child neurologists positively correlated with the prevalence band. In 2020-2022, the estimated global prevalence (crude) was 2.53/100 000 (95% CI 2.51 to 2.56), with an adjusted prevalence rate of 1.48/100 000 (95% CI 1.45 to 1.51).</p><p><strong>Conclusions: </strong>Access to epidemiology data from resource-limited countries is challenging including surveillance for case ascertainment. Increased resources and standard methodologies will facilitate the understanding of rare disease epidemiology.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029091","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}
Valerian L Altersberger, Johannes Kaesmacher, Leonid Churilov, Vignan Yogendrakumar, Jan Gralla, Daniel Strbian, David J Seiffge, Peter J Mitchell, Timothy J Kleinig, Bruce Cv Campbell, Urs Fischer
{"title":"Bridging thrombolysis with tenecteplase versus endovascular thrombectomy alone for large-vessel anterior circulation stroke: a target trial emulation analysis.","authors":"Valerian L Altersberger, Johannes Kaesmacher, Leonid Churilov, Vignan Yogendrakumar, Jan Gralla, Daniel Strbian, David J Seiffge, Peter J Mitchell, Timothy J Kleinig, Bruce Cv Campbell, Urs Fischer","doi":"10.1136/jnnp-2024-335325","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335325","url":null,"abstract":"<p><strong>Background: </strong>Whether bridging thrombolysis with tenecteplase is beneficial compared with thrombectomy alone in patients who had a stroke with large-vessel occlusion remains unclear.</p><p><strong>Methods: </strong>This is a causal inference study of observational data from the trials SWIFT DIRECT and EXTEND-IA TNK Parts 1 and 2 applying target trial emulation. We compared patients receiving thrombectomy alone to patients receiving tenecteplase 0.25 mg/kg or 0.40 mg/kg before thrombectomy. The primary outcome was functional independence (modified Rankin Scale (mRS) of 0-2) at 90 days. Secondary outcomes included improvement over the full ordinal mRS scale, freedom of disability (mRS 0-1), mortality and occurrence of symptomatic intracranial haemorrhage. The average causal treatment effect was estimated via inverse probability of treatment weighting and G-Computation. We calculated standardised risk differences (SRDs) and adjusted (common) ORs (a(c)ORs).</p><p><strong>Results: </strong>Of 377 patients included in the target trial, 187 received thrombectomy alone and 190 tenecteplase before thrombectomy. Tenecteplase before thrombectomy did not increase the probability of patients achieving functional independence (SRD 0.04 (95% CI -0.06 to 0.13)) but resulted in a significant improvement in the mRS overall (acOR 1.56 (95% CI 1.07 to 2.23)) and in a higher probability of freedom from disability (SRD 0.10 (95% CI 0.01 to 0.20)). The probability for improvement of functional outcomes was further increased in patients treated within 140 min after onset (ordinal mRS acOR 1.63 (95% CI 1.04 to 2.56)). No significant differences in safety outcomes were observed between the two groups.</p><p><strong>Conclusion: </strong>Tenecteplase before thrombectomy compared with thrombectomy alone did not increase the probability of functional independence but resulted in significant improvement over the full mRS scale. This improvement was most evident in patients treated early.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029085","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}
Smathorn Thakolwiboon, Michael Gilligan, Emma Orozco, Jeffrey W Britton, Divyanshu Dubey, Eoin P Flanagan, A Sebastian Lopez-Chiriboga, Kelsey Smith, Cristina Valencia-Sanchez, Nicholas L Zalewski, Anastasia Zekeridou, Sean J Pittock, Andrew McKeon
{"title":"Autoimmune encephalitis: recovery, residual symptoms and predictors of long-term sequelae.","authors":"Smathorn Thakolwiboon, Michael Gilligan, Emma Orozco, Jeffrey W Britton, Divyanshu Dubey, Eoin P Flanagan, A Sebastian Lopez-Chiriboga, Kelsey Smith, Cristina Valencia-Sanchez, Nicholas L Zalewski, Anastasia Zekeridou, Sean J Pittock, Andrew McKeon","doi":"10.1136/jnnp-2024-334957","DOIUrl":"https://doi.org/10.1136/jnnp-2024-334957","url":null,"abstract":"<p><strong>Background: </strong>Data regarding long-term recovery from autoimmune encephalitis (AE) remain limited.</p><p><strong>Methods: </strong>This retrospective observational study investigated outcomes in 182 patients who met the 2016 criteria for definite AE. Recovery data were available in 172 patients. Follow-up data at ≥24 months post-attack were available for 119. Recovery trajectory, residual symptoms, outcome predictors and causes of post-AE death were assessed.</p><p><strong>Results: </strong>Of 172 patients, 138 (80%) achieved good recovery (modified Rankin Scale (mRS) ≤2) with a median recovery time of 4 months (95% CI: 2 to 6 months). Recovery varied by associated neural antibody, with the best recovery observed in leucine-rich glioma-inactivated 1 (97% good recovery, median recovery time 0 (0 to 2) months). Paraneoplastic AE (p=0.007), severe attacks (eg, mRS ≥4 at attack, p=0.007) and cerebrospinal fluid pleocytosis (p=0.005) were associated with a lower likelihood of good recovery, while seizure presentation (p=0.026) was associated with better recovery. Despite good recovery, several residual symptoms persisted ≥24 months post-AE, including cognitive deficits (53%), seizures (26%), depression (23%), sleep disorders (25%), brainstem/cerebellar symptoms (13%), other movement disorders (14%) and autonomic symptoms (12%). Predictors of long-term sequelae included disabling cognitive deficit at onset and delayed immunotherapy for post AE-dementia, and medial temporal atrophy as well as escalation to cyclophosphamide therapy for both drug-resistant epilepsy and chronic depression. Of 182 patients, 20 (11%) died; the most common cause of death was progression of AE (6/20 (30%)).</p><p><strong>Conclusion: </strong>While the majority of patients achieved functional independence after AE, several residual symptoms persisted. Several clinical and paraclinical features were associated with long-term sequelae.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006776","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}