Journal of Neurology, Neurosurgery, and Psychiatry最新文献

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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_p ²=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}