Journal of Neurology, Neurosurgery, and Psychiatry最新文献

{"title":"Increased risk of recurrent stroke in patients with impaired kidney function: results of a pooled analysis of individual patient data from the MICON international collaboration.","authors":"Jeremy Molad, Kaori Miwa, Philip S Nash, Gareth Ambler, Jonathan Best, Duncan Wilson, Hen Hallevi, Simon Fandler-Höfler, Sebastian Eppinger, Houwei Du, Rustam Al-Shahi Salman, Hans R Jäger, Gregory Y H Lip, Martina B Goeldlin, Morin Beyeler, Philipp Bücke, Marwan El-Koussy, Heinrich Paul Mattle, Leonidas D Panos, Dianne H K van Dam-Nolen, Florian Dubost, Jeroen Hendrikse, M Eline Kooi, Werner Mess, Paul J Nederkoorn, Masayuki Shiozawa, Nicolas Christ, Maximilian Bellut, Sarah Gunkel, Christopher Karayiannis, John Van Ly, Shaloo Singhal, Lee-Anne Slater, Young Dae Kim, Tae-Jin Song, Keon-Joo Lee, Jae-Sung Lim, Hideo Hara, Masashi Nishihara, Jun Tanaka, Masaaki Yoshikawa, Derya Selcuk Demirelli, Zeynep Tanriverdi, Ender Uysal, Shelagh B Coutts, Francesca M Chappell, Stephen Makin, Henry Ka-Fung Mak, Kay Cheong Teo, Debbie Y K Wong, Lisa Hert, Marta Kubacka, Philippe Lyrer, Alexandros A Polymeris, Benjamin Wagner, Annaelle Zietz, Jill M Abrigo, Cyrus Cheng, Winnie C W Chu, Thomas W H Leung, Suk Fung Tsang, Brian Yiu, David J Seiffge, Urs Fischer, Simon Jung, Christian Enzinger, Thomas Gattringer, Daniel Bos, Kazunori Toyoda, Felix Fluri, Thanh G Phan, Velandai Srikanth, Ji Hoe Heo, Hee-Joon Bae, Yusuke Yakushiji, Dilek Necioglu Orken, Eric E Smith, Joanna M Wardlaw, Kui Kai Lau, Stefan T Engelter, Nils Peters, Yannie Soo, David C Wheeler, Robert J Simister, Natan M Bornstein, David J Werring, Einor Ben Assayag, Masatoshi Koga","doi":"10.1136/jnnp-2024-335110","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335110","url":null,"abstract":"<p><strong>Background: </strong>Patients with chronic kidney disease are at increased risk of stroke and frequently have cerebral microbleeds. Whether such patients also encounter an increased risk of recurrent stroke has not been firmly established. We aimed to determine whether impaired kidney function is associated with the risk of recurrent stroke, and microbleed presence, distribution and severity.</p><p><strong>Methods: </strong>We used pooled data from the Microbleeds International Collaborate Network to investigate associations of impaired kidney function, defined as estimated glomerular filtration rate (eGFR) <60 mL/min/1.73 m². Our primary outcome was a composite of recurrent ischaemic stroke (IS) and intracranial haemorrhage (ICrH). Secondary outcomes included: (1) individual components of the primary outcome; (2) modification of the primary outcome by microbleed presence or anticoagulant use and (3) microbleed presence, distribution and severity.</p><p><strong>Results: </strong>11 175 patients (mean age 70.7±12.6, 42% female) were included, of which 2815 (25.2%) had impaired kidney function. Compared with eGFR ≥60, eGFR <60 was associated with a higher risk of the primary outcome (adjusted HR, aHR 1.33 (95% CI 1.14 to 1.56), p<0.001) and higher rates of the recurrent IS (aHR 1.33 (95% CI 1.12 to 1.58)). Reduced eGFR was not associated with ICrH risk (aHR 1.07 (95% CI 0.70 to 1.60)). eGFR was also associated with microbleed presence (adjusted OR, aOR 1.14 (95% CI 1.03 to 1.26)) and severity (aOR 1.17 (95% CI 1.06 to 1.29)). Compared with having no microbleeds, eGFR was lower in those with strictly lobar microbleeds (adjusted mean difference (aMD) -2.10 mL/min/1.73 cm² (95% CI -3.39 to -0.81)) and mixed microbleeds (aMD -2.42 (95% CI -3.70 to -1.15)), but not strictly deep microbleeds (aMD -0.67 (95% CI -1.85 to 0.51)).</p><p><strong>Conclusions: </strong>In patients with IS or transient ischaemic attack, impaired kidney function was associated with a higher risk of recurrent stroke and higher microbleeds burden, compared with those with normal kidney function. Further research is needed to investigate potential additional measures for secondary prevention in this high-risk group.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006978","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":"Evolution of autonomic nervous system abnormalities in multiple sclerosis: a 6-year follow-up.","authors":"Berislav Ruška, Ivan Adamec, Luka Crnosija, Tereza Gabelić, Barbara Barun, Anamari Junakovic, Magdalena Krbot Skoric, Mario Habek","doi":"10.1136/jnnp-2024-335376","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335376","url":null,"abstract":"<p><strong>Background: </strong>Due to the lack of long-term studies, this research aimed to explore the changes and predictors of autonomic dysfunction (AD) in people with multiple sclerosis (pwMS) over a 6-year period from disease onset.</p><p><strong>Methods: </strong>Among the 121 pwMS cohort, 75 underwent autonomic function tests at baseline and year 6. Autonomic symptoms were assessed using the Composite Autonomic System Score-31 (COMPASS-31), while the results of autonomic tests were recorded using the Composite Autonomic Scoring Scale (CASS) at baseline and biennially over 6 years. Symptomatic dysautonomia was identified by a COMPASS-31 score greater than 7.913 and a CASS score greater than 0.</p><p><strong>Results: </strong>No significant changes were noted in the COMPASS-31 and CASS scores from baseline to year 6. However, there was a significant decline in the cardiovagal index (p=0.001) and the sudomotor index (p=0.036 and p=0.001, respectively) at years 4 and 6, compared with baseline. The number of participants with symptomatic dysautonomia increased significantly from year 0 to 6 (14 (20.9%) vs 29 (39.2%), respectively; p=0.049). Multivariable logistic regression analysis revealed that experiencing a relapse during the 6 years increased the likelihood of symptomatic dysautonomia (Exp(B) 3.886, 95% CI 1.019 to 14.825, p=0.047). Conversely, transitioning to high-efficacy disease-modifying therapy (HET) reduced the probability of having a CASS score greater than 0 at year 6 (Exp(B) 0.221, 95% CI 0.067 to 0.734, p=0.014).</p><p><strong>Conclusions: </strong>Dysfunction of the cardiovagal and sudomotor systems progresses alongside disease duration in pwMS. The early initiation of HET may help mitigate the risk of developing AD.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986489","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":"Cluster analysis showed long-term cognition can be predicted by looking at regional grey matter atrophy in the first two years of multiple sclerosis course.","authors":"Stefano Ziccardi, Maddalena Guandalini, Francesco Crescenzo, Luigi Martinelli, Agnese Tamanti, Gian Marco Schiavi, Albulena Bajrami, Valentina Camera, Damiano Marastoni, Massimiliano Calabrese","doi":"10.1136/jnnp-2025-335925","DOIUrl":"https://doi.org/10.1136/jnnp-2025-335925","url":null,"abstract":"<p><strong>Background: </strong>Grey matter (GM) atrophy is associated with cognitive impairment (CI) in multiple sclerosis (MS). We aimed to investigate the predictive role of early regional GM damage for long-term CI.</p><p><strong>Methods: </strong>A post-hoc cluster analysis was conducted on 175 patients with MS followed for 20 years from onset. Participants underwent a 1.5T-MRI scanning at diagnosis and after 2 years, and a comprehensive neuropsychological assessment after 20 years.</p><p><strong>Results: </strong>Three clusters have been identified: cluster 1 (primarily patients with long-term normal cognition), cluster 2 (primarily patients with long-term mild CI) and cluster 3 (primarily patients with long-term severe CI). Five brain regions have been identified showing a significant difference in early atrophy from cluster 1 and both clusters 2 and 3: precuneus (1 vs 2: p<0.001, relative risk ratio (RRR)=4.9, 95% confidence intervals (95% CIs) =2.4-10.1; 1 vs 3: p<0.001, RRR=5.5, 95% CIs=3.1-9.7), insula (1 vs 2: p<0.001, RRR=4.1, 95% CIs=1.9-8.6; 1 vs 3: p<0.001, RRR=4.3, 95% CIs=2.5-7.5), parahippocampal gyrus (1 vs 2: p<0.001, RRR=3.2, 95% CIs=1.8-5.7; 1 vs 3: p<0.001, RRR=3.1, 95% CIs=2.1-4.6), cingulate gyrus (1 vs 2: p<0.001, RRR=3.0, 95% CIs=1.7-5.3; 1 vs 3: p<0.001, RRR=2.2, 95% CIs=1.6-5.3) and cerebellum (1 vs 2: p=0.027, RRR=2.6, 95% CIs=1.5-4.6; 1 vs 3: p<0.001, RRR=2.1, 95% CIs=1.5-2.9). Four additional brain regions showed a significant difference in terms of early atrophy between cluster 1 and cluster 3: precentral gyrus (p<0.001, RRR=7.3, 95% CIs=3.1-17.3), postcentral gyrus (p<0.001, RRR=4.6, 95% CIs=2.2-9.8), superior frontal gyrus (p<0.001, RRR=4.0, 95% CIs=2.0-8.0) and hippocampus (p<0.001, RRR=2.4, 95% CIs=1.6-3.6).</p><p><strong>Conclusions: </strong>Cluster analysis identified the most specific brain regions whose early atrophy best distinguished future patients with CI. Long-term CI accumulation in MS can be predicted by early GM volume loss of specific cortical/deep GM regions.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012036","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":"Dynamics of choroid plexus volume is associated with the presence and development of fatigue in multiple sclerosis.","authors":"Martina Rubin, Paolo Preziosa, Monica Margoni, Alessandro Meani, Elisabetta Pagani, Gianluca Corazzolla, Loredana Storelli, Damiano Mistri, Massimo Filippi, Maria A Rocca","doi":"10.1136/jnnp-2024-334913","DOIUrl":"10.1136/jnnp-2024-334913","url":null,"abstract":"<p><strong>Background: </strong>Immune-mediated processes are implicated in the pathogenesis of fatigue, a common symptom in multiple sclerosis (MS). The choroid plexus (CP) regulates central nervous system (CNS) immune homeostasis and undergoes volumetric modifications possibly contributing to MS-related fatigue. We explored the association between MS-related CP volume changes and fatigue dynamics.</p><p><strong>Method: </strong>Eighty-five patients with MS and 68 healthy controls (HC) underwent brain 3T MRI, neurological evaluation and Modified Fatigue Impact Scale (MFIS) at two timepoints (median follow-up=1.4 years). Normalised brain and regional grey matter (GM) volumes were obtained using FSL-SIENAx, FIRST, SIENA and tensor-based morphometry. CP volumes were quantified with in-house methods, and longitudinal changes were analysed using linear mixed models.</p><p><strong>Results: </strong>At baseline, 25 (29%) patients with MS had fatigue (f-MS) (MFIS ≥38). Compared with HC, patients with MS had significantly higher brain T2-lesion volume, lower brain, deep GM, cortical volumes and higher CP volume (false discovery rate (FDR)-p ≤0.024). Compared with non-fatigued (nf-MS) patients, f-MS were older, more disabled (FDR-p ≤0.002) and showed numerically higher CP volume (FDR-p=0.076). At follow-up, 41 (68%) nf-MS remained non-fatigued (nf-FU-MS) and 19 (32%) developed fatigue (f-FU-MS). Patients with MS showed higher brain and deep GM atrophy rates versus HC (FDR-p ≤0.048), whereas clinical, lesional and brain volumetric changes were not significantly different among MS groups (FDR-p ≥0.287). CP volume significantly increased in all MS groups compared with HC (FDR-p ≤0.043), with greater enlargement in f-FU-MS versus nf-FU-MS (FDR-p=0.048).</p><p><strong>Conclusions: </strong>Larger CP and greater enlargement are associated with the presence and development of fatigue in MS, likely reflecting dynamic inflammatory states within the CNS, supporting the immunological contribution to MS-related fatigue.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"443-452"},"PeriodicalIF":8.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400423","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":"Risk of fall with device-based advanced treatments in Parkinson's disease: a systematic review and network meta-analysis.","authors":"Rajasumi Rajalingam, Gianluca Sorrento, Alfonso Fasano","doi":"10.1136/jnnp-2024-334521","DOIUrl":"10.1136/jnnp-2024-334521","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation (DBS) and infusion therapies are effective treatments for the motor complications of Parkinson's disease (PD), but less established is their role in fall prevention. This systematic review and network meta-analysis (NMA) aimed to evaluate the risk of falls associated with advanced therapies in PD.</p><p><strong>Methods: </strong>Following PRISMA-NMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Network Meta-analyses) guidelines, we searched PubMed, Medline, Embase and CINAHL up to 20 March 2024. Eligibility criteria based on PICOS (Population Intervention Control Outcome Study design) framework were used for DBS of the subthalamic nucleus (STN) or globus pallidus pars interna (GPi), or infusion therapies, compared with best medical treatment (BMT) or sham stimulation. Pairwise meta-analysis was conducted using RevMan V.5.4, and NMA using the netmeta package in R software.</p><p><strong>Results: </strong>Fourteen studies were included. A higher number of falls were observed in the DBS group compared with BMT, although the difference was not significant. Sensitivity analysis excluding a heterogeneity-contributing study showed a significantly higher fall risk in the DBS group (Risk Ratio (RR)=2.74, 95% CI 1.60, 4.67, p=0.0002). Subgroup analyses indicated that levodopa-carbidopa intestinal gel tended towards increased fall risk, while continuous subcutaneous infusion of (fos)levodopa (CSCI) significantly decreased risk with high certainty of evidence. NMA showed CSCI as the most effective in reducing falls, while STN DBS was associated with the highest risk.</p><p><strong>Conclusions: </strong>DBS, especially targeting the STN, may increase fall risk compared with other advanced non-DBS procedures. While LCIG might not alter fall risk, preliminary evidence suggests that CSCI positively affects fall prevention.</p><p><strong>Prospero registration number: </strong>CRD42023420637.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"470-479"},"PeriodicalIF":8.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142686732","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":"<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.","authors":"Marie Bahout, Gianmarco Severa, Emna Kamoun, Françoise Bouhour, Antoine Pegat, Annick Toutain, Emmeline Lagrange, Fanny Duval, Celine Tard, Elisa De la Cruz, Léonard Féasson, Agnès Jacquin-Piques, Pascale Richard, Corinne Métay, Michele Cavalli, Norma Beatriz Romero, Teresinha Evangelista, Guilhem Sole, Robert Yves Carlier, Pascal Laforêt, Blandine Acket, Anthony Behin, Gorka Fernández-Eulate, Sarah Léonard-Louis, Susana Quijano-Roy, Yann Pereon, Emmanuelle Salort-Campana, Aleksandra Nadaj-Pakleza, Marion Masingue, Edoardo Malfatti, Tanya Stojkovic, Rocío Nur Villar-Quiles","doi":"10.1136/jnnp-2024-334263","DOIUrl":"10.1136/jnnp-2024-334263","url":null,"abstract":"<p><strong>Background: </strong>Myosin heavy chain 7 (<i>MYH7</i>)-related myopathies (<i>MYH7</i>-RMs) are a group of muscle disorders linked to pathogenic variants in the <i>MYH7</i> gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.</p><p><strong>Methods: </strong>We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 <i>MYH7</i> patients. Patients received a thorough neurological (n=57, 100%), cardiac (n=51, 89%) and respiratory (n=45, 79%) assessment. Muscle imaging findings and muscle biopsies were reappraised in 19 (33%) and 27 (47%) patients, respectively.</p><p><strong>Results: </strong>We identified three phenotypes with varying degrees of overlap: distal myopathy (70%), scapuloperoneal (23%) and axial with peculiar cervical spine rigidity called the 'sphinx' phenotype (7%). 14% of patients had either dilated cardiomyopathy, hypertrophic cardiomyopathy or left ventricular non-compaction cardiomyopathy. 31% of patients had prominent respiratory involvement, including all patients with the 'sphinx' phenotype. Muscle MRI showed involvement of tibialis anterior, followed by quadriceps, and erector spinae in patients with axial phenotype. Cores represented the most common myopathological lesion. We report 26 pathogenic variants of <i>MYH7</i> gene, 9 of which are novel.</p><p><strong>Conclusions: </strong><i>MYH7</i>-RMs have a large phenotypic spectrum, including distal, scapuloperoneal or axial weakness, and variable cardiac and respiratory involvement. Tibialis anterior is constantly and precociously affected both clinically and on muscle imaging. Cores represent the most common myopathological lesion. Our detailed description of <i>MYH7</i>-RMs should improve their recognition and management.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"453-461"},"PeriodicalIF":8.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502292","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":"Long-term disability trajectories in multiple sclerosis: a group-based trajectory analysis of the AusLong cohort.","authors":"Amin Zarghami, Mohammad Akhtar Hussain, Ingrid van der Mei, Steve Simpson-Yap, Anne-Louise Ponsonby, Jeanette Lechner-Scott, Simon A Broadley, Robyn M Lucas, Yuan Zhou, Xin Lin, AusLong Investigator Group, Bruce V Taylor","doi":"10.1136/jnnp-2024-333632","DOIUrl":"10.1136/jnnp-2024-333632","url":null,"abstract":"<p><strong>Background: </strong>Previous natural history studies highlighted a consistent heterogeneity of disability trajectories among individuals with primary or secondary progressive multiple sclerosis (MS). However, evidence on disability progression in relapsing onset MS is scarce.The aim of this study was to investigate heterogeneity in disability accumulation over 10 years following a first clinical diagnosis of central nervous system demyelination (FCD) and identify genetic, demographic, environmental and clinical factors associated with these trajectories.</p><p><strong>Methods: </strong>We used group-based trajectory models to measure heterogeneity in disability trajectories based on the Expanded Disability Status Scale (EDSS) in a prospectively assessed cohort of 263 participants. To capture sustained neurological impairments and avoid issues related to significant changes in EDSS associated with relapse, we did not consider EDSS points recorded within 3 months of a relapse.</p><p><strong>Results: </strong>We identified three distinct and clinically meaningful disability trajectories: No/minimal, moderate and severe. Those in the no/minimal disability trajectory showed no appreciable progression of disability (median EDSS∼1 at 10-year review) while those in the moderate and severe disability trajectories experienced disability worsening (median time to reach EDSS 4 was 9 and 7 years, respectively). Compared with the no/minimal disability trajectory, those with older age, a higher number of relapses within the first 5 years post-FCD, and a higher number of comorbidities at baseline were more likely to be in the worse disability trajectory. Surprisingly, baseline MRI and anatomical site of initial symptoms did not influence long-term outcomes.</p><p><strong>Conclusions: </strong>Those at higher risk of faster MS disability progression can be identified based on their early clinical characteristics with potential therapeutic implications for early intervention and treatment escalation.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"424-434"},"PeriodicalIF":8.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132943","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":"Code ICH: reorganising stroke care for intracerebral haemorrhage.","authors":"Wendy Ziai, Issam Awad, Daniel Hanley","doi":"10.1136/jnnp-2024-334937","DOIUrl":"10.1136/jnnp-2024-334937","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"508-512"},"PeriodicalIF":8.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142750659","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":"Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.","authors":"Carolin Anna Maria Koriath, Fernando Guntoro, Penelope Norsworthy, Egor Dolzhenko, Michael Eberle, Davina J Hensman Moss, Michael Flower, Holger Hummerich, Anne Elizabeth Rosser, Sarah J Tabrizi, Simon Mead, Edward J Wild","doi":"10.1136/jnnp-2024-333602","DOIUrl":"10.1136/jnnp-2024-333602","url":null,"abstract":"<p><strong>Background: </strong>Genetic testing for Huntington's disease (HD) was initially usually positive but more recently the negative rate has increased: patients with negative HD tests are described as having HD phenocopy syndromes (HDPC). This study examines their clinical characteristics and investigates the genetic causes of HDPC.</p><p><strong>Methods: </strong>Clinical data from neurogenetics clinics and HDPC gene-panel data were analysed. Additionally, a subset of 50 patients with HDPC underwent whole-genome sequencing (WGS) analysed via Expansion Hunter and Ingenuity Variant Analysis.</p><p><strong>Results: </strong>HDPC prevalence was estimated at 2.3-2.9 per 100 000. No clinical discriminators between patients with HD and HDPC could be identified. In the gene-panel data, deleterious variants and potentially deleterious variants were over-represented in cases versus controls. WGS analysis identified one <i>ATXN1</i> expansion in a patient with HDPC.</p><p><strong>Conclusions: </strong>The HDPC phenotype is consistent with HD, but the genotype is distinct. Both established deleterious variants and novel potentially deleterious variants in genes related to neurodegeneration contribute to HDPC.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"466-469"},"PeriodicalIF":8.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502293","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":"Prevalence of epilepsy: a population-based cohort study in Denmark with comparison to Global Burden of Disease (GBD) prevalence estimates.","authors":"Jakob Christensen, Betina B Trabjerg, Ryan G Wagner, Charles R Newton, Churl-Su Kwon, Kari Modalsli Aaberg, Eugen Trinka, Samuel Wiebe, Judith Helen Cross, Håkon Magne Vegrim, Theo Vos, Jaimie Steinmetz, Julie Werenberg Dreier","doi":"10.1136/jnnp-2024-334547","DOIUrl":"10.1136/jnnp-2024-334547","url":null,"abstract":"<p><strong>Background: </strong>The Global Burden of Disease Study (GBD) produces prevalence estimates for 'idiopathic epilepsy' (ie, of unknown aetiology) and 'secondary epilepsy' (ie, with known aetiology) but does not report prevalence by underlying aetiologies for 'secondary epilepsy'.</p><p><strong>Methods: </strong>We used nationwide, population-based register data from Denmark to identify underlying causes of epilepsy and their contribution to prevalence of 'secondary epilepsy' and compared with global prevalence data from GBD 2019. We identified all persons with a hospital-based epilepsy diagnosis and a filled prescription for antiseizure medication between 1 January 2009 and 31 December 2018. Epilepsy was categorised into 'idiopathic' or 'secondary' and 'total epilepsy' as the sum of the two epilepsy categories.</p><p><strong>Results: </strong>On 31 December 2018, a total of 5 784 284 individuals (49.7% males) were living in Denmark including 40 336 with epilepsy (51.5% males). Perinatal conditions, traumatic brain injury, brain tumours and stroke were prominent underlying causes of 'secondary epilepsy'. The prevalence of 'total epilepsy' in Denmark was 697 (95% CI 691 to 704) per 100 000 population (264 (95% CI 260 to 269) for 'secondary epilepsy' and 433 (95% CI 428 to 438) for 'idiopathic epilepsy'). In the GBD 2019 Study, the prevalence of 'total epilepsy' in 2018 was 682 (95% uncertainty interval (UI) 586 to 784) per 100 000 population (359 (95% UI 324-397) for 'secondary epilepsy' and 324 (95% UI 249 to 404) for 'idiopathic epilepsy').</p><p><strong>Conclusions: </strong>Prevalence estimates of 'total epilepsy', 'idiopathic epilepsy' and 'secondary epilepsy' in Denmark align with the GBD 2019 estimates. In future studies, it is suggested to explicitly include all types of epilepsy, including 'secondary epilepsy', which is currently estimated as sequelae (consequences) of underlying diseases.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"480-488"},"PeriodicalIF":8.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622237","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}