Journal of Neurology, Neurosurgery, and Psychiatry最新文献

{"title":"Long-term maintenance of mycophenolate mofetil in anti-NMDA receptor encephalitis (LEARN): a multicentre, open-label, blinded-endpoint, randomised controlled trial.","authors":"Xue Gong, Yue Liu, Yaru Ma, Bo Yan, Dongmei An, Yonghua Guo, Xu Liu, Xingjie Li, Linjun Cai, Xiaolin Deng, Dong Zhou, Jin-Mei Li, Zhen Hong","doi":"10.1136/jnnp-2024-335400","DOIUrl":"10.1136/jnnp-2024-335400","url":null,"abstract":"<p><strong>Background: </strong>Anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) is a severe autoimmune disorder with high morbidity and mortality. Current treatments have limitations including relapse, highlighting the need for effective maintenance therapy. This study evaluates the efficacy and safety of mycophenolate mofetil (MMF) as long-term adjunctive therapy to first-line treatment in newly diagnosed patients with NMDARE.</p><p><strong>Methods: </strong>We conducted a prospective, randomised, open-label trial in four academic centres in China. Patients aged 14 and older with acute NMDARE, who received first-line treatments within 2 weeks of presentation to the hospital and had a modified Rankin scale (mRS) score of 2 or more, were recruited. Participants were randomly assigned to receive first-line treatment with or without MMF (0.5 g two times per day for 24 months). Primary outcomes included relapse rates and time to relapse, with secondary outcomes including cognitive deficits, treatment response (the proportion of patients with≥1 point improvement in mRS within 4 weeks) and adverse events (AEs).</p><p><strong>Results: </strong>Of 100 patients (52% female; median age 27), those in the MMF group had fewer relapses (5.9% vs 26.5%; p=0.006) and better treatment response (84.3% vs 65.3%; p=0.03). No significant difference was found in long-term functional prognosis at 12 and 24 months. However, MMF patients had less fatigue, cognitive impairment, depression and seizures. AEs were mild-to-moderate, with no deaths or anaphylactic reactions.</p><p><strong>Conclusions: </strong>This study provides Class II evidence that long-term adjunctive treatment of MMF to first-line treatment of NMDARE resulted in a lower risk of relapse and was well tolerated beyond the 24 months of treatment.</p><p><strong>Trial registration number: </strong>ChiCTR2100044362.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"998-1007"},"PeriodicalIF":7.5,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with outcomes following autologous haematopoietic stem cell transplantation for multiple sclerosis.","authors":"Yassine Noui, Christina Zjukovskaja, Thomas Silfverberg, Per Ljungman, Kim Kultima, Andreas Tolf, Tobias Tolf, Kristina Carlson, Joachim Burman","doi":"10.1136/jnnp-2024-335512","DOIUrl":"10.1136/jnnp-2024-335512","url":null,"abstract":"<p><strong>Background: </strong>Autologous haematopoietic stem cell transplantation (AHSCT) has emerged as a highly effective treatment for relapsing-remitting multiple sclerosis (RRMS), though patient selection remains challenging. The degree to which disease-modifying therapies (DMTs) and procedure-related complications affect treatment outcomes is unclear. The objective of this study was to investigate the factors that might influence outcomes following AHSCT.</p><p><strong>Methods: </strong>Data from the multicentre, retrospective cohort study Haematopoietic Stem Cell Transplantation for Treatment of Multiple Sclerosis in Sweden (AutoMS-Swe) were analysed, comprising 174 patients with RRMS who received AHSCT before 1 January 2020. Primary outcomes included inflammatory disease activity, confirmed disability worsening (CDW) and overall evidence of disease activity. Confirmed disability improvement was investigated as a secondary outcome. Associations between variables of interest and outcomes were assessed using univariable Cox proportional hazards models.</p><p><strong>Results: </strong>Patients who received rituximab as the last DMT before AHSCT had a reduced hazard of inflammatory disease activity (HR 0.18, 95% CI 0.04 to 0.78). Epstein-Barr virus detection was associated with a higher hazard of inflammatory disease activity (HR 2.3, 95% CI 1.05 to 5.07). CDW was associated with longer disease durations (HR 1.09, 95% CI 1.00 to 1.19) and was negatively associated with gadolinium-enhancing lesions (HR 0.08, 95% CI 0.01 to 0.64). No CDW events occurred in treatment-naive patients.</p><p><strong>Conclusions: </strong>Prior rituximab treatment appears to be protective against inflammatory activity after AHSCT. Disease duration and gadolinium-enhancing lesions are major determinants of disability following AHSCT.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"966-974"},"PeriodicalIF":7.5,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anticoagulation after intracerebral haemorrhage: clarity or confusion?","authors":"Kevin N Sheth","doi":"10.1136/jnnp-2025-336803","DOIUrl":"10.1136/jnnp-2025-336803","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"917-918"},"PeriodicalIF":7.5,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690552","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":"Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.","authors":"Alfredo Iacoangeli, Allison A Dilliott, Ahmad Al Khleifat, Peter M Andersen, Nazlı A Başak, Johnathan Cooper-Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian E Drory, Jonathan D Glass, Marc Gotkine, Yosef M Lerner, Orla Hardiman, John E Landers, Russell L McLaughlin, Jesus S Mora Pardina, Karen Morrison, Susana Pinto, Monica Povedano, Christopher E Shaw, Pamela J Shaw, Vincenzo Silani, Nicola Ticozzi, Philip van Damme, Leonard H van den Berg, Patrick Vourc'h, Markus Weber, Jan Herman Veldink, Richard Dobson, Guy A Rouleau, Ammar Al-Chalabi, Sali M K Farhan","doi":"10.1136/jnnp-2024-335364","DOIUrl":"10.1136/jnnp-2024-335364","url":null,"abstract":"<p><strong>Background: </strong>Despite several studies suggesting a potential oligogenic risk model in amyotrophic lateral sclerosis (ALS), case-control statistical evidence implicating oligogenicity with disease risk or clinical outcomes is limited. Considering its direct clinical and therapeutic implications, we aim to perform a large-scale robust investigation of oligogenicity in ALS risk and in the disease clinical course.</p><p><strong>Methods: </strong>We leveraged Project MinE genome sequencing datasets (6711 cases and 2391 controls) to identify associations between oligogenicity in known ALS genes and disease risk, as well as clinical outcomes.</p><p><strong>Results: </strong>In both the discovery and replication cohorts, we observed that the risk imparted from carrying multiple ALS rare variants was significantly greater than the risk associated with carrying only a single rare variant, both in the presence and absence of variants in the most well-established ALS genes. However, in contrast to risk, the relationships between oligogenicity and ALS clinical outcomes, such as age of onset and survival, did not follow the same pattern.</p><p><strong>Conclusions: </strong>Our findings represent the first large-scale, case-control assessment of oligogenicity in ALS and show that oligogenic events involving known ALS risk genes are relevant for disease risk in ~6% of ALS but not necessarily for disease onset and survival. This must be considered in genetic counselling and testing by ensuring to use comprehensive gene panels even when a pathogenic variant has already been identified. Moreover, in the age of stratified medication and gene therapy, it supports the need for a complete genetic profile for the correct choice of therapy in all ALS patients.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"928-936"},"PeriodicalIF":7.5,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral anticoagulation versus no anticoagulation for stroke prevention in patients with intracranial haemorrhage and atrial fibrillation: an updated meta-analysis of randomised controlled trials.","authors":"Lucio D'Anna, Francesco Bax, Samir Abu-Rumeileh, Lorenzo Barba, Raffaele Ornello, Mariarosaria Valente, Gian Luigi Gigli, Simona Sacco, Giovanni Merlino, Matteo Foschi","doi":"10.1136/jnnp-2025-336169","DOIUrl":"10.1136/jnnp-2025-336169","url":null,"abstract":"<p><strong>Background: </strong>Oral anticoagulation (OAC) effectively reduces stroke risk in patients with atrial fibrillation (AF), but its use after intracranial haemorrhage (ICH) remains controversial due to bleeding concerns. This study aimed to update the evidence on the efficacy and safety of OAC in patients with AF with a history of ICH.</p><p><strong>Methods: </strong>A systematic review and meta-analysis were conducted according to Preferred Reporting Items for Systematic reviews and Meta-Analysis guidelines. We searched PubMed, Scopus and EMBASE for randomised controlled trials (RCTs) comparing OAC versus avoiding anticoagulation in patients with AF post-ICH. The primary outcomes were ischaemic stroke and recurrent ICH. Secondary outcomes included all-cause mortality, cardiovascular mortality, major adverse cardiovascular events (MACE), major haemorrhage and a composite endpoint of 'net clinical benefit' (first incident ischaemic stroke and first incident recurrent ICH). Pooled risk ratios (RRs) with 95% CIs were calculated using a random-effects model.</p><p><strong>Results: </strong>Four RCTs with 653 participants were included. Anticoagulation was associated with a reduced risk of ischaemic stroke (RR 0.23, 95% CI 0.06 to 0.91) and increased risk of recurrent ICH (RR 3.60, 95% CI 1.40 to 9.30). No significant differences were observed in all-cause mortality (RR 0.93, 95% CI 0.59 to 1.46), cardiovascular death (RR 1.01, 95% CI 0.32 to 3.18) and for net clinical benefit (RR 0.72, 95% CI 0.42 to 1.24). Anticoagulation was associated with a significant increased risk of any major haemorrhage (RR 2.49, 95% CI 1.29 to 4.81) and reduced MACE (RR 0.64, 95% CI 0.44 to 0.94).</p><p><strong>Conclusions: </strong>OAC in patients with AF and prior ICH was associated with a reduced risk of ischaemic stroke and an increased risk of recurrent ICH.</p><p><strong>Prospero registration number: </strong>CRD42025637606.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"919-927"},"PeriodicalIF":7.5,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690553","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":"Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.","authors":"Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Manoella Guerra de Albuquerque Bueno, Fabricio Diniz de Lima, Camila Castelo Branco Pupe, Diogo Fernandes Dos Santos, Marcus Vinicius Vieira da Silva Gomes, Marcelo Maroco Cruzeiro, Jana Vandrovcova, Lindsay Wilson, Christopher J Record, Marcondes Cavalcante França, Osvaldo Nascimento, Michael G Hanna, Mary M Reilly, Wilson Marques","doi":"10.1136/jnnp-2025-336458","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336458","url":null,"abstract":"<p><strong>Background: </strong>Biallelic <i>SH3TC2</i> variants lead to autosomal recessive Charcot-Marie-Tooth type 4C (CMT4C) which is typically demyelinating and associated with early-onset spinal deformities. Electrophysiology typically reveals a non-uniform conduction velocity (CV) slowing, a pattern traditionally linked to inflammatory neuropathies, potentially leading to diagnostic misinterpretation.</p><p><strong>Objective and methods: </strong>Clinical and neurophysiological data from 19 patients belonging to 16 unrelated families with confirmed CMT4C were retrospectively collected across six neuromuscular reference centres in Brazil.</p><p><strong>Results: </strong>Among the 19 patients, consanguineous parentage was found in 11 patients. Most patients exhibited symptom onset before age 10, and difficulty walking was the most common presenting symptom. A high rate of initial misdiagnosis was noted, with six patients initially diagnosed as inflammatory neuropathy. Proximal muscle weakness since initial assessment, present in 13 patients, and non-uniform CV slowing, present in all patients, contributed to this diagnostic misinterpretation.</p><p><strong>Conclusion: </strong>This is the largest Brazilian cohort of patients with CMT4C to date. Key findings include frequent non-uniform CV slowing, excessive temporal dispersion and a high rate of misdiagnosis, often as acquired demyelinating neuropathy. Clinicians should be aware of the distinctive neurophysiological pattern of SH3TC2-related neuropathy to avoid misdiagnosis, unnecessary ancillary tests and treatment.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033527","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":"Accelerated long-term forgetting as a predictor of clinical onset in presymptomatic autosomal dominant Alzheimer's disease.","authors":"Nicholas Magill, Rachana Tank, Damien Ferguson, Duncan Alston, Antoinette O'Connor, Helen Rice, Kirsty Lu, Sebastian Crutch, Nick C Fox, Philip Sj Weston","doi":"10.1136/jnnp-2025-336750","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336750","url":null,"abstract":"<p><strong>Background: </strong>In Alzheimer's disease (AD), sensitive measures of cognitive decline prior to overt symptoms are urgently needed. Accelerated long-term forgetting (ALF), where new information is retained normally over conventional testing intervals but is then lost at an accelerated rate over the following days and weeks, has been identified cross-sectionally in presymptomatic autosomal dominant and sporadic AD cohorts. We aimed to assess whether ALF testing is predictive of proximity to future symptom onset.</p><p><strong>Methods: </strong>20 asymptomatic autosomal dominant AD mutation carriers who performed normally on standard cognitive testing underwent ALF assessment with (1) a list, (2) a story and (3) a visual figure, with the testing of 30-min recall and 7-day recall. Participants were followed up annually for a median of 7 years and assessed each time with the Clinical Dementia Rating (CDR) scale.</p><p><strong>Results: </strong>9/20 participants developed symptoms (CDR global>0) during follow-up. Those who became symptomatic had lower baseline ALF scores for both the list (progressors=30 (IQR, 30-36.4) and non-progressors=58.3 (IQR, 33-66.7), p=0.03) and story (progressors=58.8 (IQR, 44-66) and non-progressors=81.2 (IQR, 69.1-87.8), p<0.001). Story ALF (area under curve (AUC)=0.82) and list ALF (AUC=0.73) discriminated between those who did and did not develop symptoms.</p><p><strong>Conclusions: </strong>Severity of ALF is not only associated with the presence of AD pathology but also predictive of clinical onset, identifying those at the highest risk of imminent decline. ALF testing offers promise in aiding presymptomatic trial recruitment, as a presymptomatic cognitive endpoint and potentially as a screening tool in the wider population.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033611","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":"We hold these truths to be self-evident.","authors":"Amy Davidson, Kathryn Mary Brennan","doi":"10.1136/jnnp-2025-336977","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336977","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033591","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":"Paediatric-onset multiple sclerosis: demographics, symptoms and disease progression.","authors":"David Ellenberger, Peter Flachenecker, Judith Haas, Kerstin Hellwig, Dieter Pöhlau, Alexander Stahmann, Clemens Warnke, Uwe K Zettl, Paulus Stefan Rommer","doi":"10.1136/jnnp-2025-336680","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336680","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS) is the most common neuroimmunological disease in young adults. Data on its clinical onset before the age of 18 (paediatric-onset MS (POMS)) are limited.</p><p><strong>Methods: </strong>This observational study present data on >1000 POMS compared with adult-onset MS (AOMS) and analysed patients regarding diagnostic delay, initial symptoms and long-term outcome using generalised additive models and adjustment for relevant confounders.</p><p><strong>Results: </strong>The results showed a diagnostic delay and a higher proportion of women with POMS vs AOMS. Sensory (57%) and visual (48%) disturbances were the most common initial symptoms of POMS. Relapse rates were higher in POMS than in AOMS within the first 15 years after the clinical onset. The proportion of patients reaching an Expanded Disability Status Scale (EDSS) score of 3.0 by 15 years was lower in POMS (41%) than in AOMS (age-dependent, 48%-71%). A plateau phase in EDSS was observed in patients with POMS after age 40, which was not seen in those with AOMS. This plateau phase was responsible for the equalisation of the EDSS score with advanced age between POMS and AOMS. Cerebellar and polysymptomatic symptoms at clinical onset and male sex were predictors of higher EDSS scores in POMS, whereas in AOMS, pyramidal dysfunction was a predictor of worse outcomes.</p><p><strong>Conclusions: </strong>This largest and longest follow-up study of POMS to date revealed that women are more likely to develop MS at younger ages and experience different symptoms than men. Patients with POMS tend to have higher relapse rates but may recover more quickly from relapses and experience a more stable disease course later in life.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145023476","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":"Real-world effectiveness of autologous haematopoietic stem cell transplantation for multiple sclerosis in the UK.","authors":"Paolo Antonio Muraro, Majid Kazmi, Eleonora De Matteis, Gavin Brittain, Alice Mariottini, Richard Nicholas, Eli Silber, Varun Mehra, Ian Gabriel, Olga Ciccarelli, Julia Lee, Rachel Pearce, Maria Pia Sormani, Alessio Signori, Ruth Paul, Ram Malladi, Victoria Potter, John Snowden, Basil Sharrack","doi":"10.1136/jnnp-2025-336755","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336755","url":null,"abstract":"<p><strong>Background: </strong>Autologous haematopoietic stem cell transplantation (AHSCT) is increasingly used as a one-off disease-modifying therapy for aggressive forms of multiple sclerosis (MS). We report real-world effectiveness of AHSCT for MS in the UK.</p><p><strong>Methods: </strong>This retrospective open-label study included patients with (pw)MS treated with AHSCT between 2002 and 2023 in 14 UK centres. Outcomes included relapse-free survival (RFS), MRI activity-free survival (MFS), progression-free survival (PFS) and no evidence of disease activity (NEDA-3). We assessed 6-month confirmed Expanded Disability Status Scale (EDSS) score progression or improvement compared with pre-treatment. Treatment-related mortality (TRM) was defined as death from any cause within 100 days post-autologous graft reinfusion.</p><p><strong>Results: </strong>364 pwMS were included (median age 40 years; 58% female). Of these, 271 pwMS had adequate neurological follow-up data: 168 (62%) had relapsing-remitting MS (pwRRMS) and 103 (38%) had progressive MS (pwPMS). Median disease duration from symptom onset was 10 years (IQR 6-14), EDSS 6 (IQR 4.0-6.5) and follow-up from AHSCT 46 months. At 2 and 5 years from AHSCT, RFS was 94.6% and 88.6%; MFS 93.1% and 80.1%; PFS 83.5% and 62.4%; NEDA-3 72.3% and 46.2%. pwRRMS had significantly higher rates of PFS (p=0.007) and NEDA-3 (p=0.001) than pwPMS. RRMS was a predictor of EDSS improvement, whose prevalence was 24.2% at 2 years and 20.4% at 5 years. TRM was 1.4% (n=5/364).</p><p><strong>Conclusions: </strong>In this cohort with high EDSS at baseline and including pwPMS, AHSCT led to durable remission of inflammatory activity and stabilisation or improvement of neurological disability, particularly in pwRRMS.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006218","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}