Eva Johansson, Jie Guo, Jing Wu, Tomas Olsson, Lars Alfredsson, Anna Karin Hedström
{"title":"Impact of fish consumption on disability progression in multiple sclerosis.","authors":"Eva Johansson, Jie Guo, Jing Wu, Tomas Olsson, Lars Alfredsson, Anna Karin Hedström","doi":"10.1136/jnnp-2024-335200","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335200","url":null,"abstract":"<p><strong>Background: </strong>Emerging evidence indicates that diet, including fish consumption, may play a role in the development and progression of multiple sclerosis (MS). We aimed to investigate the influence of fish consumption on disability progression in MS.</p><p><strong>Methods: </strong>Incident cases from the population-based case-control study Epidemiological Investigation of MS (n=2719), with data on fish intake and Expanded Disability Status Scale (EDSS) outcomes, were categorised by fish consumption and followed up to 15 years post-diagnosis through the Swedish MS registry. A digital follow-up questionnaire in 2021 assessed changes in fish intake over time (n=1719). Cox regression models, adjusted for clinical and demographic variables, were used to evaluate 24-week confirmed disability worsening (CDW), and progression to EDSS 3 and EDSS 4.</p><p><strong>Results: </strong>Higher total consumption of lean and oily fish at diagnosis was associated with a reduced risk of CDW (HR 0.66, 95% CI 0.51 to 0.86), EDSS 3 (HR 0.55, 95% CI 0.39 to 0.79) and EDSS 4 (HR 0.57, 95% CI 0.33 to 0.96) compared with low consumption. These associations showed significant trends and remained consistent after further adjustment for various lifestyle factors. The protective effects were more pronounced among patients who maintained consistent fish consumption during the follow-up period.</p><p><strong>Conclusions: </strong>Our findings suggest that higher fish consumption is associated with more favourable MS disability progression, supporting diet as a potentially modifiable factor. Replication and validation are needed before transfer to practice.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143501931","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}
Giovanni Ostuzzi, Christian Geroin, Chiara Gastaldon, Federico Tedeschi, Francesca Maria Clesi, Giacomo Trevisan, Giovanni Bidello, Giovanni Vita, Enrico Marcuzzo, Angela Sandri, Luigi M Romito, Roberto Eleopra, Lucia Tesolin, Ilaria Franch, Mario Zappia, Alessandra Nicoletti, Benedetta Demartini, Veronica Nisticò, Nicola Modugno, Enrica Olivola, Andrea Pilotto, Alessandro Padovani, Giovanni Defazio, Tommaso Ercoli, Martina Petracca, Rosa De Micco, Carlo Dallocchio, Marcello Esposito, Roberto Erro, Eleonora Del Prete, Francesco Amaddeo, Corrado Barbui, Michele Tinazzi
{"title":"Characterising alexithymia in individuals with functional motor disorders: a cross-sectional analysis of the Italian Registry of Functional Motor Disorders.","authors":"Giovanni Ostuzzi, Christian Geroin, Chiara Gastaldon, Federico Tedeschi, Francesca Maria Clesi, Giacomo Trevisan, Giovanni Bidello, Giovanni Vita, Enrico Marcuzzo, Angela Sandri, Luigi M Romito, Roberto Eleopra, Lucia Tesolin, Ilaria Franch, Mario Zappia, Alessandra Nicoletti, Benedetta Demartini, Veronica Nisticò, Nicola Modugno, Enrica Olivola, Andrea Pilotto, Alessandro Padovani, Giovanni Defazio, Tommaso Ercoli, Martina Petracca, Rosa De Micco, Carlo Dallocchio, Marcello Esposito, Roberto Erro, Eleonora Del Prete, Francesco Amaddeo, Corrado Barbui, Michele Tinazzi","doi":"10.1136/jnnp-2024-334788","DOIUrl":"https://doi.org/10.1136/jnnp-2024-334788","url":null,"abstract":"<p><strong>Background: </strong>Alexithymia, a personality trait characterised by difficulty in identifying and expressing emotions, may contribute to the onset and clinical presentation of functional motor disorders (FMDs), although this association remains underexplored.</p><p><strong>Methods: </strong>From the Italian Registry of FMDs, we selected individuals recruited between November 2011 and January 2023, diagnosed with FMD according to Gupta and Lang criteria and assessed for various neurological and psychological features with validated rating scales. The main statistical analysis included regression models using the Toronto Alexithymia Scale 20 items as an explanatory variable for a set of clinical measures, adjusting for sociodemographic factors and correcting for multiple testing.</p><p><strong>Results: </strong>In a cohort of 483 individuals, 20.7% had possible alexithymia and 31.5% had definite alexithymia. Higher levels of alexithymia were strongly associated with increased severity of depression (β=0.31, p<0.001), anxiety (β=0.32, p<0.001), general psychological distress (β=-0.27, p<0.001), fatigue (β=0.05, p<0.001) and pain (β=0.32, p<0.001) and moderately associated with a slower onset of FMD (β=0.02, p=0.003). Subscale analyses revealed that difficulties identifying feelings contributed most to these associations. No significant association was observed with motor symptom severity.</p><p><strong>Conclusions: </strong>Emotional processing difficulties of individuals with FMD and alexithymia might increase their vulnerability to mental health problems, pain and fatigue, possibly aggravating the overall prognosis. Further research is needed to elucidate the underlying mechanisms linking alexithymia to FMD and to explore the efficacy of interventions targeting emotional awareness and regulation in this population and to prevent long-term mental health burdens.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441187","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}
Markus Lauerer, Tun Wiltgen, Carolin Brückner, Christina Engl, Katrin Giglhuber, Sebastian Lambrecht, Viola Pongratz, Achim Berthele, Christiane Gasperi, Jan S Kirschke, Claus Zimmer, Bernhard Hemmer, Mark Mühlau
{"title":"Predictors of early disability accumulation in newly diagnosed multiple sclerosis: clinical, imaging and cerebrospinal fluid measures.","authors":"Markus Lauerer, Tun Wiltgen, Carolin Brückner, Christina Engl, Katrin Giglhuber, Sebastian Lambrecht, Viola Pongratz, Achim Berthele, Christiane Gasperi, Jan S Kirschke, Claus Zimmer, Bernhard Hemmer, Mark Mühlau","doi":"10.1136/jnnp-2024-335037","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335037","url":null,"abstract":"<p><strong>Background: </strong>A growing arsenal of treatment options for relapsing multiple sclerosis (RMS) emphasises the need for early prognostic biomarkers. While evidence for individual markers exists, comprehensive analyses at the time of diagnosis are sparse.</p><p><strong>Methods: </strong>Brain and spinal cord lesion numbers, cerebrospinal fluid parameters, initial symptoms, and Expanded Disability Status Scale (EDSS) score were determined at the time of diagnosis. Confirmed disability accumulation (CDA), defined as a sustained EDSS increase over 6 months, was determined during a 5-year follow-up. All-subsets multivariable logistic regression was performed to identify predictors of CDA. Model performance was assessed via receiver operating characteristic analysis, and individual risks were calculated. Analyses were repeated with progression independent of relapse activity (PIRA) as an outcome.</p><p><strong>Results: </strong>113/417 (27.1%) people with RMS experienced CDA on follow-up. Intrathecal IgG synthesis, a higher number of spinal cord lesions, age and polysymptomatic manifestation were identified as independent predictors of CDA. The resulting prediction model yielded an area under the curve (AUC) of 0.75 with a 95% CI of 0.70 to 0.80. Individuals exceeding the optimal thresholds for the three most significant predictors had a 61.8% likelihood of experiencing CDA, whereas those below all three thresholds had a CDA rate of 4.5%. The only significant baseline predictor differentiating PIRA from relapse-associated worsening was a higher number of spinal cord lesions (AUC=0.64, 95% CI 0.54 to 0.74).</p><p><strong>Conclusions: </strong>Intrathecal IgG synthesis, spinal cord lesion number, age and polysymptomatic manifestation are independent predictors of early CDA in newly diagnosed RMS.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441192","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}
Jie Guo, Tomas Olsson, Jan Hillert, Lars Alfredsson, Anna Karin Hedström
{"title":"Lifestyle factors associated with benign multiple sclerosis.","authors":"Jie Guo, Tomas Olsson, Jan Hillert, Lars Alfredsson, Anna Karin Hedström","doi":"10.1136/jnnp-2024-335464","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335464","url":null,"abstract":"<p><strong>Background: </strong>Benign multiple sclerosis (MS), characterised by minimal disability despite long disease duration, remains poorly understood in terms of its determinants and prognostic implications. While lifestyle factors have been implicated in modifying disease progression, their role in distinguishing benign and non-benign MS remains unclear.</p><p><strong>Methods: </strong>We conducted a comparative analysis of patients with benign (n=2040) and non-benign MS (n=4283) using data from Swedish nationwide case-control studies with long-term follow-up. Logistic regression models were used to analyse associations between a history of infectious mononucleosis (IM) and lifestyle factors (smoking, body mass index, fish consumption and sun exposure habits) and the likelihood of benign MS. Additionally, Cox regression was used to follow patients with benign MS from the 15-year mark onward, identifying factors associated with the transition to non-benign MS over time.</p><p><strong>Results: </strong>The odds of having benign MS were reduced in association with a history of IM (OR 0.54, 95% CI 0.45 to 0.65), adolescent overweight and obesity (OR 0.69, 95% CI 0.56 to 0.85 and 0.46, 95% CI 0.32 to 0.66, respectively) and infrequent fish consumption (OR 0.72, 95% CI 0.60 to 0.88). Similar associations were observed for the risk of transitioning from benign to non-benign MS over time.</p><p><strong>Conclusions: </strong>A history of IM and modifiable lifestyle factors significantly influence the probability of a benign disease course in MS. These findings underscore the potential for targeted lifestyle interventions to improve MS outcomes. Further research is needed to elucidate the mechanisms by which a past IM infection can continue to influence MS progression long after the initial infection.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414456","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}
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
{"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":"https://doi.org/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":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Simon Fandler-Höfler, Kanishk Kaushik, Benedetta Storti, Slaven Pikija, Dermot Mallon, Gareth Ambler, Payam Tabaee Damavandi, Larysa Panteleienko, Isabella Canavero, Marianne A A van Walderveen, Ellis S van Etten, Jacopo Cosimo DiFrancesco, Christian Enzinger, Thomas Gattringer, Anna Bersano, Marieke J H Wermer, Gargi Banerjee, David J Werring
{"title":"Clinical-radiological presentation and natural history of iatrogenic cerebral amyloid angiopathy.","authors":"Simon Fandler-Höfler, Kanishk Kaushik, Benedetta Storti, Slaven Pikija, Dermot Mallon, Gareth Ambler, Payam Tabaee Damavandi, Larysa Panteleienko, Isabella Canavero, Marianne A A van Walderveen, Ellis S van Etten, Jacopo Cosimo DiFrancesco, Christian Enzinger, Thomas Gattringer, Anna Bersano, Marieke J H Wermer, Gargi Banerjee, David J Werring","doi":"10.1136/jnnp-2024-335164","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335164","url":null,"abstract":"<p><strong>Background: </strong>We aimed to describe neuroimaging features, clinical profiles and long-term outcomes in patients with iatrogenic cerebral amyloid angiopathy (iCAA).</p><p><strong>Methods: </strong>We performed a systematic literature search for case series of iCAA and included individual patients and their longitudinal clinical and neuroimaging data in this pooled cohort study. Patients meeting a modified version of the Queen Square criteria for iCAA were included. Baseline and follow-up MRIs were centrally analysed for markers of CAA using validated rating scales.</p><p><strong>Results: </strong>We included 51 patients (68.6% male, median age at presentation 48 years), 51.0% with probable and 49.0% with possible iCAA. We evaluated 219 MRIs acquired over a median follow-up time of 3.7 years (IQR 1.8-6.4). There were 43 symptomatic intracerebral haemorrhages (ICH) in 24 patients during follow-up, a rate of 16.7 per 100 patient-years.Patients with previous supratentorial brain surgery had an ipsilateral-dominant distribution and spread of haemorrhagic markers on MRI. 14/51 (27.5%) patients had transient inflammatory changes (cortical or parenchymal oedema, sulcal hyperintensities). Haemorrhagic markers progressed during follow-up. In addition to 43 symptomatic ICH, 36 asymptomatic ICH (mostly smaller intragyral haemorrhages) were detected on follow-up scans. Besides numerous lobar microbleeds (median 16 at baseline, 53 at last follow-up), deep microbleeds were present in 19.6% of patients at baseline and 44.4% at follow-up. Severe perivascular spaces in centrum semiovale were common at baseline (64.7%) and follow-up (95.6%).</p><p><strong>Conclusions: </strong>Patients with iCAA appear to have distinctive MRI characteristics, which might differentiate iCAA from other CAA subtypes and provide new insights into underlying disease mechanisms.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408667","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":"Smoking-attributable neurological health loss: age-specific burden and health disparities.","authors":"Yingjie Zhao, Lu Fei","doi":"10.1136/jnnp-2024-335536","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335536","url":null,"abstract":"<p><strong>Background: </strong>Smoking is a significant risk factor for neurological disorders, yet its global impact on these conditions remains underexplored.</p><p><strong>Methods: </strong>Using Global Burden of Diseases 2021 data, we analysed trends in age-standardised disability-adjusted life-years (DALYs) and deaths attributable to smoking from 1990 to 2021 for three neurological disorders: stroke, Alzheimer's disease and other dementias, and Multiple Sclerosis. Socioeconomic disparities were assessed using the lope index of inequality and the relative concentration index. Bayesian age-period-cohort models were employed to forecast smoking-attributable burden through 2050.</p><p><strong>Results: </strong>Between 1990 and 2021, annual smoking-attributable DALYs and death rates slightly declined by -1.93% and -1.92%, respectively, but absolute numbers continued to rise, from 26.10 million to 30.18 million DALYs and from 0.93 million to 1.15 million deaths. Older adults (aged 60 and above) experienced the greatest burden, contributing 58.15% of DALYs and 75.57% of deaths in 2021. Smoking-attributable stroke was increasingly concentrated in low sociodemographic index regions, whereas disparities in dementias and multiple sclerosis were more pronounced in socioeconomically advantaged regions, particularly for multiple sclerosis.</p><p><strong>Conclusions: </strong>This study identified an age-specific burden and widening disparities for neurological disorders attributable to smoking, with older adults disproportionately experiencing an escalating impact. Targeted prevention and equitable healthcare access tailored for older adults are critical to mitigating smoking-attributable neurological health loss.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408681","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":"https://doi.org/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":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Romain Marignier, Javier Villacieros-Álvarez, Carmen Espejo, Georgin Arrambide, Nicolás Fissolo, Lucía Gutiérrez, Alessandro Dinoto, Patricia Mulero, Laura Rubio-Flores, Pablo Nieto, Carmen Alcalá, Jose E Meca-Lallana, Pedro Martínez-Garcia, Jorge Millán, Raphaël Bernard-Valnet, Inés González, Aida Orvíz García, Raquel Tellez, Laura Navarro, Silvia Presas-Rodríguez, Lucía Romero-Pinel, Sergio Martínez-Yélamos, Juan Pablo Cuello, Ana Maria Alonso Torres, Raquel Piñar, Gary Álvarez Bravo, Lakhdar Benyahya, Sophie Trouillet-Assant, Virginie Dyon-Tafani, Caroline Froment Tilikete, Aurelie Ruet, Bertrand Bourre, Romain Deschamps, Caroline Papeix, Elisabeth Maillart, Philippe Kerschen, Xavier Ayrignac, Alex Rovira, Cristina Auger, Bertrand Audoin, Xavier Montalban, Mar Tintore, Sara Mariotto, Alvaro Cobo-Calvo
{"title":"Assessment of neuronal and glial serum biomarkers in myelin oligodendrocyte glycoprotein antibody-associated disease: the MULTIMOGAD study.","authors":"Romain Marignier, Javier Villacieros-Álvarez, Carmen Espejo, Georgin Arrambide, Nicolás Fissolo, Lucía Gutiérrez, Alessandro Dinoto, Patricia Mulero, Laura Rubio-Flores, Pablo Nieto, Carmen Alcalá, Jose E Meca-Lallana, Pedro Martínez-Garcia, Jorge Millán, Raphaël Bernard-Valnet, Inés González, Aida Orvíz García, Raquel Tellez, Laura Navarro, Silvia Presas-Rodríguez, Lucía Romero-Pinel, Sergio Martínez-Yélamos, Juan Pablo Cuello, Ana Maria Alonso Torres, Raquel Piñar, Gary Álvarez Bravo, Lakhdar Benyahya, Sophie Trouillet-Assant, Virginie Dyon-Tafani, Caroline Froment Tilikete, Aurelie Ruet, Bertrand Bourre, Romain Deschamps, Caroline Papeix, Elisabeth Maillart, Philippe Kerschen, Xavier Ayrignac, Alex Rovira, Cristina Auger, Bertrand Audoin, Xavier Montalban, Mar Tintore, Sara Mariotto, Alvaro Cobo-Calvo","doi":"10.1136/jnnp-2024-335137","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335137","url":null,"abstract":"<p><strong>Background: </strong>Serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) have emerged as important biomarkers in multiple sclerosis (MS) and aquaporin-4 seropositive neuromyelitis optica spectrum disorder (AQP4-NMOSD). However, their interest in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) remains unclear. Our aim was to characterise sNfL and sGFAP profile and analyse their usefulness in predicting relapses and disability in MOGAD.</p><p><strong>Methods: </strong>Retrospective study of adult MOGAD patients with serum samples collected at baseline (≤3 months from disease onset) and follow-up (>6 months from baseline sample). sNfL and sGFAP were analysed using Simoa HD-1, and values were compared across time-points. The association between biomarkers and clinical variables and their predictive value for disability and relapses were analysed.</p><p><strong>Results: </strong>Eighty-nine MOGAD patients were included. Baseline sNfL and sGFAP values were high at baseline and decreased over time (p<0.001, p=0.027, respectively). sNfL and sGFAP values were associated with Expanded Disability Status Scale (EDSS) at attacks (β 0.15 (0.06; 0.25), p=0.002; β 0.14 (0.07; 0.21), p<0.001, respectively) and were lower in optic neuritis presentations (β -0.69 (-1.18; -0.19), p=0.007; β -0.42 (-0.76; -0.08), p=0.016). Biomarker deltas[Δ] (baseline values - second samples values) were associated with ΔEDSS (initial EDSS - final EDSS) (ΔsNfL β 0.52 (0.01; 1.04), p=0.046; ΔsGFAP β 1.07 (0.38; 1.75), p=0.003). Finally, sNfL values independently predicted the risk of relapses (HR 2.06 (1.41; 3.01), p<0.001).</p><p><strong>Conclusions: </strong>Our results on sNfL and sGFAP suggest initial neuro-axonal and astrocytic damage in MOGAD and the utility of these biomarkers at onset and follow-up in predicting clinical recovery and relapses.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408649","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":"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}