Stephanie B Syc-Mazurek, Laura Cacciaguerra, Deena A Tajfirouz, Vyanka Redenbaugh, Karl N Krecke, Smathorn Thakolwiboon, Alessandro Dinoto, Ajay Madhavan, Jan-Mendelt Tillema, A Sebastian Lopez-Chiriboga, Cristina Valencia-Sanchez, Elia Sechi, John J Chen, Sean J Pittock, Eoin P Flanagan
{"title":"MRI characteristics during attack and remission distinguish patients with MOG antibody-associated disease from multiple sclerosis.","authors":"Stephanie B Syc-Mazurek, Laura Cacciaguerra, Deena A Tajfirouz, Vyanka Redenbaugh, Karl N Krecke, Smathorn Thakolwiboon, Alessandro Dinoto, Ajay Madhavan, Jan-Mendelt Tillema, A Sebastian Lopez-Chiriboga, Cristina Valencia-Sanchez, Elia Sechi, John J Chen, Sean J Pittock, Eoin P Flanagan","doi":"10.1136/jnnp-2025-336684","DOIUrl":"10.1136/jnnp-2025-336684","url":null,"abstract":"<p><strong>Background: </strong>Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and multiple sclerosis (MS) have both overlapping and distinct MRI lesion features, which vary with imaging timing. This study identified distinguishing MRI characteristics using paired MRIs at clinical attack and remission.</p><p><strong>Methods: </strong>We retrospectively identified Mayo Clinic patients with MOGAD and MS that: (1) fulfilled respective diagnostic criteria; (2) had paired attack (≤30 days) and remission MRI scans (≥12 months) without interval attacks. MRIs were compared between groups for key features.</p><p><strong>Results: </strong>We included 43 patients with MOGAD (median age 31 years (range, 3-67); 63% female) and 49 patients with MS (median age 39 years (range, 17-65); 65% female). Resolution of at least one T2-lesion differentiated MOGAD from MS (sensitivity, (95% CI 77% to 100%), specificity, (95% CI 86% to 99%); Youden's index (YI)=0.90). Resolution of at least two T2-lesions indicated MOGAD (sensitivity 62% (95% CI 41% to 79%); specificity, 100% (95% CI 94% to 100%); YI=0.62). MOGAD patients were more likely to have normal MRI scans at follow-up compared with MS (brain 14/44 (32%) vs 0/60 (0%), p<0.001; spine 21/27 (78%) vs 7/36 (19%), p<0.001). In addition, the presence of T1-hypointense, ovoid periventricular T2, and enhancing lesions were more common in MS versus MOGAD at attack and remission and in the spine, longitudinally extensive T2 lesions were more common in MOGAD attacks (8/27 (30%)).</p><p><strong>Conclusion: </strong>Paired MRI at attack and remission revealed distinctive characteristics of MOGAD and MS, with greater diagnostic value at remission driven by the discriminating power of T2-lesion resolution. In MOGAD patients with initial parenchymal involvement, a 1-year follow-up MRI may aid diagnosis and serve as a new baseline.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12421407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675004","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":"Association of ultra-processed food consumption with prodromal, incident Parkinson's disease and mortality.","authors":"Xiao Chen, Peilu Wang, Weifeng Luo, Jian Wang, Liang Sun, Yaqi Li, Fangfang Zhang, Xiang Gao","doi":"10.1136/jnnp-2025-336045","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336045","url":null,"abstract":"<p><strong>Background: </strong>Ultra-processed foods (UPFs), widely consumed globally, are increasingly recognised as a key factor in poor dietary quality and diet-related health risks. However, little is known about the role of UPF consumption in the development and progression of Parkinson's disease (PD).</p><p><strong>Methods: </strong>We followed 121 440 participants who were free of cancer, PD and dementia at baseline, each completing at least two 24-hour dietary assessments. UPF consumption was defined according to the Nova classification. Eight prodromal features were identified through self-reported diagnoses, hospital admission records and primary care data. Prodromal PD was defined as the presence of ≥3 prodromal PD features. Incident PD cases were identified through linkages with hospital admissions, death registers and self-reported data. Information on vital status, date of death and cause of death was obtained from the UK National Health Service (NHS) and the NHS Central Register. The multivariable Cox proportional hazards models were used to estimate the HRs and 95% CIs.</p><p><strong>Results: </strong>During a median of 10.5 years of follow-up, 1047 participants had ≥3 prodromal PD features, 640 participants developed PD and 114 participants died from PD. Comparing extreme quartiles of UPF consumption, the HRs were 1.65 (95% CI: 1.35 to 2.02) for having ≥3 versus 0 prodromal PD features, 1.32 (95% CI: 1.02 to 1.71) for developing PD and 3.11 (95% CI: 1.56 to 6.17) for PD death (p value trend <0.05 for all).</p><p><strong>Conclusions: </strong>In this large prospective cohort study, higher UPF consumption was associated with higher risk of developing prodromal PD, incident PD and PD-specific mortality.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144659448","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}
Chenghua Yuan, Yueqi Du, Qingyu Yao, Can Zhang, Lei Zhang, Zhenlei Liu, Kai Wang, Wanru Duan, Zuowei Wang, Xingwen Wang, Gao Zeng, Hao Wu, Zan Chen, John D Heiss, Jian Guan, Feng-Zeng Jian
{"title":"Natural history of Chiari I malformation-syringomyelia: longitudinal cohort study.","authors":"Chenghua Yuan, Yueqi Du, Qingyu Yao, Can Zhang, Lei Zhang, Zhenlei Liu, Kai Wang, Wanru Duan, Zuowei Wang, Xingwen Wang, Gao Zeng, Hao Wu, Zan Chen, John D Heiss, Jian Guan, Feng-Zeng Jian","doi":"10.1136/jnnp-2025-336023","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336023","url":null,"abstract":"<p><strong>Background: </strong>The natural history of clinically stable patients with Chiari I malformation (CM-I)-syringomyelia is uncertain. To understand their outcomes, we examined conservatively managed CM-I-syringomyelia patients' long-term clinical and radiological courses.</p><p><strong>Methods: </strong>We enrolled 156 mild CM-I-syringomyelia cases (Japanese Orthopaedic Association (JOA) score ≥13) managed non-surgically between 1994 and 2014 and followed them periodically until December 2024 for significant progressive myelopathy that we termed 'obvious deterioration'. Obvious deterioration was defined as a ≥2-point decline in JOA score to less than 13. Spontaneous syrinx resolution was radiologically defined as >50% reduction in syrinx length or maximal axial diameter on T1-weighted MRI.</p><p><strong>Results: </strong>The entire cohort had over 1401 patient-years of follow-up. 55 patients exhibited clinical deterioration, yielding an annual progression rate of 3.9%. Obstructive sleep apnoea-hypopnoea syndrome (OSAHS) (HR=1.841, 95% CI 0.999 to 3.392; p=0.049), positive Babinski sign (HR=2.252, 95% CI 1.229 to 4.125; p=0.009) and without spontaneous resolution (HR=20.308, 95% CI 4.804 to 85.849; p<0.001) independently predicted later clinical obvious deterioration. Spontaneous resolution of CM-I-syringomyelia was more frequent with cervical syringes (HR=2.12, 95% CI 1.224 to 3.674; p=0.007) and absence of OSAHS (HR=3.83, 95% CI 1.376 to 10.640; p=0.01).</p><p><strong>Conclusion: </strong>This study showed that the natural course of myelopathy in CM-I-syringomyelia varies according to the OASHS status, Babinski sign and spontaneous syrinx resolution. Additionally, baseline characteristics, including the spinal region of the syrinx and the absence of OSAHS, correlated with spontaneous syrinx resolution.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144659449","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}
Gregory Landon, Georgia Stimpson, Michela Guglieri, Anna Sarkozy, Adnan Y Manzur, Francesco Muntoni, Giovanni Baranello
{"title":"Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade.","authors":"Gregory Landon, Georgia Stimpson, Michela Guglieri, Anna Sarkozy, Adnan Y Manzur, Francesco Muntoni, Giovanni Baranello","doi":"10.1136/jnnp-2024-335223","DOIUrl":"10.1136/jnnp-2024-335223","url":null,"abstract":"<p><strong>Background: </strong>Glucocorticosteroids (GC) are standard-of-care treatment for most boys with duchenne muscular dystrophy (DMD). GC use has changed over time with evolving evidence, and we describe GC patterns, dosing and side-effects in the UK over 11 years.</p><p><strong>Method: </strong>NorthStar data from 2012 to 2022 were analysed to understand GC type, regime and starting age. GC dose with age, patterns of GC switching and side-effect profiles by type and regime were also analysed. Participants attributed to 'other' regimes were queried and details were included.</p><p><strong>Results: </strong>Data on GC usage were available for 1117 boys, across 6905 observations, with 74% of boys GC treated. Prednisolone was the most common regime in the period (65% of assessments) but deflazacort prescription has increased (17% in 2012 and 43% in 2022). Daily regimes were more common (66% of assessments), and the incidence of intermittent (10 days on/10 days off) regimes has declined (46% in 2012 and 26% in 2022). Older participants were more commonly on less than recommended doses, and this was more common in those on deflazacort or daily regimes. Gastrointestinal symptoms and cushingoid features were more common in those on deflazacort than prednisolone, while increased appetite, cushingoid features, gastrointestinal symptoms and insomnia were more common in those on daily than intermittent regimes.</p><p><strong>Conclusions: </strong>The use of deflazacort and daily regimes has steadily increased across the UK North Star Network in the last decade. This study provides one of the largest up-to-date real-world set of data of evolution in prescription patterns and the occurrence of side-effects in different groups of GC-treated DMD.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"794-801"},"PeriodicalIF":7.5,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408706","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}
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":"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":"736-743"},"PeriodicalIF":7.5,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462787/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Delia Gagliardi, Charles Wade, Arianna Tucci, Henry Houlden, Jeremy Chataway, Frederik Barkhof, David S Lynch
{"title":"Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.","authors":"Delia Gagliardi, Charles Wade, Arianna Tucci, Henry Houlden, Jeremy Chataway, Frederik Barkhof, David S Lynch","doi":"10.1136/jnnp-2024-335089","DOIUrl":"10.1136/jnnp-2024-335089","url":null,"abstract":"<p><strong>Background: </strong>Alexander disease is an autosomal dominant leukodystrophy caused by heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although increasingly recognised, there is evidence that Alexander disease, particularly later-onset disease, is significantly underdiagnosed and its true prevalence is unknown (the only population-based prevalence was estimated at one in 2.7 million). Using the extensive UK Biobank dataset, we analysed the frequency of pathogenic and likely pathogenic variants, <i>GFAP</i> variants, within the UK population and identified clinical and radiological phenotypes linked to these variants.</p><p><strong>Methods: </strong>Pathogenic, likely pathogenic and <i>GFAP</i> variants of uncertain significance were identified in the UK Biobank whole-exome sequencing data (n=4 70 000). Demographic information, previous medical history-including symptoms associated with Alexander disease-collected from self-reported data and hospital records, family history and various MRI metrics were compared between variant carriers and controls.</p><p><strong>Results: </strong>We identified 36 unique pathogenic and likely pathogenic <i>GFAP</i> variants in 106 carriers, yielding a carrier frequency of approximately 1 in 4435. Modelling based on the UK population estimated a prevalence of 6.8 per 100 000. Carriers of pathogenic and likely pathogenic <i>GFAP</i> variants had higher odds of bladder dysfunction (OR 3.17, p<0.0001), upper airway dysfunction (OR 7.82, p=0.004) and psychiatric conditions (OR 1.51, p=0.04). Additionally, carriers were more likely to report a paternal history of dementia (OR 2.79, p<0.0001). MRI data revealed significant atrophy in brainstem regions among variant carriers.</p><p><strong>Conclusion: </strong>Pathogenic and likely pathogenic <i>GFAP</i> variants are more prevalent in the general population than previously expected and are associated with clinical and radiological characteristics of Alexander disease. This study indicates that Alexander disease may be under-reported, misdiagnosed, or exhibit reduced penetrance.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"728-735"},"PeriodicalIF":7.5,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791831","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}
Stefano Callegaro, Umberto Manera, Antonio Canosa, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Adriano Chiò, Rosario Vasta
{"title":"Another brick in our knowledge of ALS causes: a population-based study of residential clustering.","authors":"Stefano Callegaro, Umberto Manera, Antonio Canosa, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Adriano Chiò, Rosario Vasta","doi":"10.1136/jnnp-2024-335670","DOIUrl":"10.1136/jnnp-2024-335670","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"821-822"},"PeriodicalIF":8.7,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542358","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}
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":"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":"766-774"},"PeriodicalIF":8.7,"publicationDate":"2025-07-16","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}
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":"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":"784-793"},"PeriodicalIF":8.7,"publicationDate":"2025-07-16","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}
Pia Winter, Franziska Axhausen, Stephanie Wolff, Alice Grizzle Willison, Saskia Räuber, Franz Felix Konen, Stefanie Schreiber, Philipp Schwenkenbecher, Ramona Hagler, Tobias Ruck, Hagen B Huttner, Christoph Kleinschnitz, Mark Pawlitzki, Thomas Skripuletz, Refik Pul, Sven G Meuth, Steffen Pfeuffer
{"title":"Association of body mass index and clinical response in patients receiving ofatumumab for treatment of multiple sclerosis.","authors":"Pia Winter, Franziska Axhausen, Stephanie Wolff, Alice Grizzle Willison, Saskia Räuber, Franz Felix Konen, Stefanie Schreiber, Philipp Schwenkenbecher, Ramona Hagler, Tobias Ruck, Hagen B Huttner, Christoph Kleinschnitz, Mark Pawlitzki, Thomas Skripuletz, Refik Pul, Sven G Meuth, Steffen Pfeuffer","doi":"10.1136/jnnp-2024-335673","DOIUrl":"10.1136/jnnp-2024-335673","url":null,"abstract":"<p><strong>Background: </strong>The impact of body weight on disability progression rates among patients receiving ofatumumab was not evaluated yet.</p><p><strong>Methods: </strong>Among patients from a multicentre prospective cohort, baseline demographics were compared among body mass index (BMI) quartiles as well as proportions of clinical relapses, MRI lesions and disability worsening during follow-up.</p><p><strong>Results: </strong>536 patients from four centres were included. Baseline demographics were evenly distributed among patients. Proportions of relapses and new/enlarging MRI lesions were comparable among BMI strata.Confirmed disability worsening was significantly more abundant among patients from the 4th BMI quartile (BMI ≥29.2 kg/m<sup>2</sup>; adjusted HR: 3.33 (95% CI: 1.72 to 6.42; p<0.001). Relapse-associated worsening was not substantially different among relapsing patients from different BMI strata (HR: 1.19 (95% CI: 0.40 to 3.52; p=0.750)). Yet, progression independent from relapse activity was more likely in patients from 4th BMI quartile (HR: 2.00 (95% CI: 1.47 to 2.70; p<0.001)).Body weight (4th body weight quartile: ≥84.5 kg) was not associated with disability worsening (adjusted HR: 1.91 (95% CI: 0.97 to 3.76; p=0.060). Ofatumumab serum levels were lower in patients with higher BMI as well.</p><p><strong>Conclusions: </strong>Inflammatory disease outcomes did not differ but disability progression was more frequent in the highest BMI quartile (BMI >29.2 kg/m<sup>2</sup>). This was associated with lower ofatumumab serum levels. Since body weight itself was not predictive, we assume that body fat composition is critical for ofatumumab effectiveness.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"802-806"},"PeriodicalIF":7.5,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573247","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}