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Incidence of backpack palsy and neuralgic amyotrophy in the Dutch military population. 荷兰军人中背包性麻痹和神经性肌萎缩症的发生率。
IF 2.4
BMJ Neurology Open Pub Date : 2025-08-14 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001218
Donna van der Dussen, Sanne M Dorhout Mees, Nicolette Notermans, Nens van Alfen
{"title":"Incidence of backpack palsy and neuralgic amyotrophy in the Dutch military population.","authors":"Donna van der Dussen, Sanne M Dorhout Mees, Nicolette Notermans, Nens van Alfen","doi":"10.1136/bmjno-2025-001218","DOIUrl":"10.1136/bmjno-2025-001218","url":null,"abstract":"<p><strong>Background: </strong>Brachial plexopathies, including backpack palsy (BPP) and neuralgic amyotrophy (NA), are not uncommon in military populations. BPP is caused by compression or stretching of the brachial plexus, while NA is an inflammatory neuropathy potentially triggered by physical strain or infection. Previous studies suggest these conditions have significant incidence rates in military personnel, but further data are limited.</p><p><strong>Methods: </strong>This prospective observational study tracked the incidence of BPP and NA among Dutch military personnel from 1 June 2022 to 1 January 2025. All patients with new symptoms of brachial plexopathy were included. Incidence was calculated using the total number of active military personnel during the study period. The incidence was calculated for different age categories.</p><p><strong>Results: </strong>A total of 68 cases of BPP and NA were identified over the 31-month period. The calculated incidence of BPP and NA was 28.2 and 35.7 per 100 000 person-years, respectively. BPP was most common in soldiers under 25 (89.6 per 100 000 person-years), while NA was more evenly distributed across age groups.</p><p><strong>Conclusions: </strong>This study confirms a high incidence of plexopathies in the Dutch military population, particularly BPP in younger soldiers. These findings underscore the need for targeted prevention strategies to maintain operational readiness.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001218"},"PeriodicalIF":2.4,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12352234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intracranial atherosclerotic stenosis in Asia: a systematic scoping and rapid review of prevalence, frequency in ischaemic stroke and risk factors. 亚洲颅内动脉粥样硬化性狭窄:缺血性卒中患病率、频率和危险因素的系统范围和快速回顾。
IF 2.4
BMJ Neurology Open Pub Date : 2025-08-14 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001164
Jose C Navarro, Bonifacio Ii C Pedregosa, Monique Therese S Punsalan, Gabriel Alejandro B Baroque, Maria Socorro F Sarfati, Maria Teresa A Cañete, Anna Marie Sage-Nolido, Romulo U Esagunde, Johnny K Lokin, John Harold B Hiyadan, Laurence Kristoffer J Batino, Maria Lutgarda M Dorado, Robert N Gan
{"title":"Intracranial atherosclerotic stenosis in Asia: a systematic scoping and rapid review of prevalence, frequency in ischaemic stroke and risk factors.","authors":"Jose C Navarro, Bonifacio Ii C Pedregosa, Monique Therese S Punsalan, Gabriel Alejandro B Baroque, Maria Socorro F Sarfati, Maria Teresa A Cañete, Anna Marie Sage-Nolido, Romulo U Esagunde, Johnny K Lokin, John Harold B Hiyadan, Laurence Kristoffer J Batino, Maria Lutgarda M Dorado, Robert N Gan","doi":"10.1136/bmjno-2025-001164","DOIUrl":"10.1136/bmjno-2025-001164","url":null,"abstract":"<p><strong>Background: </strong>The burden and profile of intracranial atherosclerotic stenosis (ICAS) among Asians remain incompletely understood. We aimed to describe and review the current body of literature on the prevalence of ICAS, its frequency among patients with ischaemic stroke and its associated risk factors across different Asian populations, taking into account the diagnostic modalities and criteria used to identify ICAS in these studies.</p><p><strong>Methods: </strong>We performed a systematic scoping and rapid review of published studies reporting on the prevalence, frequency in ischaemic stroke and risk factors associated with ICAS in Asian populations.</p><p><strong>Results: </strong>Of the 1272 identified citations, 142 were included in the final review: 54 studies reported on prevalence, 56 on frequency in ischaemic stroke and 120 on risk factors. Most studies were conducted in China, Hong Kong, Korea and Japan. Reported ICAS prevalence varied widely, from 3% to 89.4% (median 13%), while frequency in ischaemic stroke ranged from 7.9% to 82.4% (median 41.65%). Magnetic resonance and transcranial ultrasonography were the most frequently used diagnostic modalities, with most studies applying a ≥50% stenosis threshold. Associations between ICAS and traditional (eg, age, hypertension, diabetes, dyslipidaemia, smoking and prior stroke), genetic and other emerging risk factors were reported, although the strength and consistency of associations varied.</p><p><strong>Conclusion: </strong>Our review supports the prevailing understanding of a relatively higher burden of ICAS among Asians, while also underscoring the substantial heterogeneity in reported prevalence and frequency in ischaemic stroke of ICAS across Asian populations. Variability in diagnostic modalities and criteria used to identify ICAS likely influenced these rates. While a range of risk factors has been identified, the strength and consistency of associations vary. The concentration of studies in East Asia underscores the need for further research, particularly in under-represented countries. The standardisation of diagnostic criteria and imaging protocols for ICAS is needed.</p><p><strong>Registration: </strong>https://doi.org/10.17605/OSF.IO/PKVJ3.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001164"},"PeriodicalIF":2.4,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12352257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review. 具有细微影像学表现的神经元核内包涵病:1例报告及文献复习。
IF 2.4
BMJ Neurology Open Pub Date : 2025-08-11 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001033
Ziyang Huang, Meiduo Gesang, Jiehua Ma, Yuwen Wang, Chenling Hu, Tian Zhang, Xiaoying Zhang
{"title":"Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review.","authors":"Ziyang Huang, Meiduo Gesang, Jiehua Ma, Yuwen Wang, Chenling Hu, Tian Zhang, Xiaoying Zhang","doi":"10.1136/bmjno-2025-001033","DOIUrl":"10.1136/bmjno-2025-001033","url":null,"abstract":"<p><strong>Introduction: </strong>Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Hyperintense signals on diffusion-weighted imaging (DWI) at the corticomedullary junction are key diagnostic features. Early manifestations are often overlooked, leading to misdiagnoses. Here, we report a case of adult-onset NIID with DWI hyperintensities at the corticomedullary junction.</p><p><strong>Case presentation: </strong>A 72-year-old woman presented with progressive memory deterioration starting 9 years ago. In the third year, MRI showed extensive white matter lesions and brain atrophy, with focal high signal intensity in the corticomedullary junction of the frontal lobe; however, this was overlooked. The patient was clinically diagnosed with Alzheimer's disease. In the seventh year, the patient gradually developed emotional instability, bradykinesia and urinary incontinence. In the eighth year, MRI revealed a remarkable curvilinear DWI hyperintense signal at the corticomedullary junction. Further genetic testing identified 105 GGC repeats in the <i>NOTCH2NLC</i> gene. Skin biopsy revealed intranuclear inclusions in P62 and ubiquitin-positive fibroblasts, confirming the NIID diagnosis.</p><p><strong>Conclusions: </strong>Patients with NIID show characteristic DWI hyperintensity at the corticomedullary junction during symptoms. This early imaging finding is subtle and often overlooked. For patients with dementia and episodic encephalopathy, observing radiological changes, along with genetic and skin biopsies, is indispensable.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001033"},"PeriodicalIF":2.4,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12352206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Plasma cell-free DNA testing in diagnosing Listeria rhombencephalitis in a CSF PCR-negative patient: a case report. 无浆细胞DNA检测在脑脊液pcr阴性患者诊断李斯特菌菱形脑炎中的应用:1例报告。
IF 2.4
BMJ Neurology Open Pub Date : 2025-08-05 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001120
Tam Tran, Cameron Yi, Gabriela Keeton, Melissa Gitman, Allison Navis
{"title":"Plasma cell-free DNA testing in diagnosing Listeria rhombencephalitis in a CSF PCR-negative patient: a case report.","authors":"Tam Tran, Cameron Yi, Gabriela Keeton, Melissa Gitman, Allison Navis","doi":"10.1136/bmjno-2025-001120","DOIUrl":"10.1136/bmjno-2025-001120","url":null,"abstract":"<p><strong>Background: </strong>The aetiologic identification of central nervous infections, including Listeria, remains challenging as most pathogens are not identified in meningoencephalitis cases despite advances in molecular diagnostics. Plasma next-generation sequencing (NGS) has exciting potential in the clinical setting due to the broad detection range and non-invasive testing approach.</p><p><strong>Case presentation: </strong>A 59-year-old non-binary and healthy individual presented with fever and vomiting. They were found to have nystagmus, dysphagia and hypophonia. Their course was complicated by progressive encephalopathy, thus requiring intubation. Serial brain MRIs performed days apart demonstrated rapidly progressive cerebral oedema and expanding ring-enhancing brain abscesses. Extensive diagnostic testing was unrevealing, which included multiple PCR cerebrospinal fluid (CSF) infectious tests and both dedicated serum and CSF serological testing for neuroinflammatory aetiologies. Given the rapid and significant clinical deterioration, the patient underwent plasma NGS testing and a brain biopsy. Listeria was ultimately detected with NGS multiple days before the biopsy results were available.</p><p><strong>Conclusions: </strong>This is one of the first reported cases of diagnosing Listeria in the central nervous system with plasma NGS, rather than CSF, testing. This case describes the potential to improve a patient's clinical outcomes using plasma NGS in situations of diagnostic uncertainty or high-risk biopsies.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001120"},"PeriodicalIF":2.4,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144823180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Obstructive sleep apnoea and risk of dementia: a Danish population-based cohort study. 阻塞性睡眠呼吸暂停与痴呆风险:一项丹麦人群队列研究
IF 2.4
BMJ Neurology Open Pub Date : 2025-08-04 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001174
Sigrid Bjerge Gribsholt, Erzsébet Horváth-Puhó, Holly Elser, Kristina Laugesen, Nils Skajaa, Cecilia Hvitfeldt Fuglsang, Victor Henderson, Henrik Toft Sørensen
{"title":"Obstructive sleep apnoea and risk of dementia: a Danish population-based cohort study.","authors":"Sigrid Bjerge Gribsholt, Erzsébet Horváth-Puhó, Holly Elser, Kristina Laugesen, Nils Skajaa, Cecilia Hvitfeldt Fuglsang, Victor Henderson, Henrik Toft Sørensen","doi":"10.1136/bmjno-2025-001174","DOIUrl":"10.1136/bmjno-2025-001174","url":null,"abstract":"<p><strong>Background: </strong>Obstructive sleep apnoea (OSA) is associated with adverse health outcomes. However, the association with dementia remains uncertain. Thus, we examined the association of OSA with all-cause dementia and Alzheimer's disease.</p><p><strong>Methods: </strong>We conducted a Danish nationwide population-based cohort study using health registries. Patients with OSA were identified from 1995 to 2017. Furthermore, a propensity score-matched comparison cohort was defined. Propensity scores were computed based on age, sex, comorbidities and education. With follow-up until 2018, we computed incidence rates (IRs) and HRs for all-cause dementia and Alzheimer's disease. Subgroup analyses were conducted by sex, age, overweight/obesity, hypertension and continuous positive airway pressure (CPAP) treatment.</p><p><strong>Results: </strong>We identified 62 928 patients with OSA and 62 928 in the propensity score-matched comparison cohort (76% male, median age 52 years). The IR for all-cause dementia was 1.27 (95% CI 1.17 to 1.37) per 1000 person-years in patients with OSA and 1.15 (95% CI 1.05 to 1.25) in the propensity score-matched comparison cohort, yielding an HR of 1.10 (95% CI 0.98 to 1.24). The HR for Alzheimer's disease was 1.16 (95% CI 0.94 to 1.43). Among individuals with overweight/obesity, the HR for all-cause dementia was 0.71 (95% CI 0.51 to 0.99), while it was 1.17 (95% CI 1.03 to 1.33) in those without. CPAP treatment attenuated associations.</p><p><strong>Conclusion: </strong>Our findings support a modest association between OSA and dementia, including Alzheimer's disease, motivating early clinical detection of OSA as a potentially modifiable risk factor for subsequent dementia. The finding that the dementia hazard was not increased in the setting of overweight or obesity requires further study and points to the need for research on mechanisms underlying the association between OSA and dementia.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001174"},"PeriodicalIF":2.4,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12323540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy of cholinesterase inhibitors and memantine on symptoms not responsive to levodopa in patients affected by Parkinson's disease without dementia: a systematic review. 胆碱酯酶抑制剂和美金刚对无痴呆帕金森病患者左旋多巴无反应症状的疗效:一项系统综述
IF 2.4
BMJ Neurology Open Pub Date : 2025-08-03 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001079
Ilaria Cani, Nicola Grotteschi, Giovanna Calandra-Buonaura, Maria Guarino, Pietro Guaraldi, Giulia Giannini, Luca Baldelli, Monia Donati, Pietro Cortelli, Maria Domenica Camerlingo, Francesco Nonino, Luisa Sambati
{"title":"Efficacy of cholinesterase inhibitors and memantine on symptoms not responsive to levodopa in patients affected by Parkinson's disease without dementia: a systematic review.","authors":"Ilaria Cani, Nicola Grotteschi, Giovanna Calandra-Buonaura, Maria Guarino, Pietro Guaraldi, Giulia Giannini, Luca Baldelli, Monia Donati, Pietro Cortelli, Maria Domenica Camerlingo, Francesco Nonino, Luisa Sambati","doi":"10.1136/bmjno-2025-001079","DOIUrl":"10.1136/bmjno-2025-001079","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is primarily characterised by parkinsonism due to nigro-striatal dopaminergic denervation. While therapeutic strategies have traditionally focused on compensating for dopaminergic deficit, growing evidence reveals an involvement of cholinergic and glutamatergic pathways in the pathogenesis of the motor and non-motor manifestations of the disease. The purpose of this review is to provide an overview of the efficacy of cholinesterase inhibitors (ChIs) and memantine (glutamate receptor antagonist) in patients affected by PD without dementia on motor (gait, balance) and non-motor (cognitive, behavioural, sleep and autonomic) symptoms usually poorly responsive to levodopa.</p><p><strong>Methods: </strong>A systematic review of randomised controlled trials (RCTs) was conducted. The search was performed on PubMed, Cochrane Library and Embase databases for articles published between January 1996 and October 2024, using predefined inclusion and exclusion criteria. Risk of bias was assessed with the Cochrane Risk of Bias tool. Results are presented narratively.</p><p><strong>Results: </strong>12 RCTs were included in this review, with 10 (774 patients) focusing on ChIs and 2 (65 patients) on memantine. Some studies highlighted the beneficial effects of ChI on mild cognitive impairment and suggested potential improvements in apathy and gait disturbances. However, the findings regarding the impact of ChI and memantine on other non-motor symptoms were inconsistent.</p><p><strong>Conclusions: </strong>Available RCTs suggest that ChIs may have a valuable role in managing cognitive impairment, apathy and gait disorders in PD patients without dementia. However, due to the lack of strong evidence, a cautious and individualised approach is advisable when considering these treatments.Cite Now.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001079"},"PeriodicalIF":2.4,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efgartigimod following plasma exchange in the treatment of subjects with generalised myasthenia gravis: study protocol for a multicentre, three-arm, open-label study. 血浆置换后Efgartigimod治疗广泛性重症肌无力:一项多中心、三组、开放标签的研究方案
IF 2.4
BMJ Neurology Open Pub Date : 2025-08-03 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001180
Kan Wang, Qiuju Li, Yanan Wu, Mengze Zhang, Xiaokun Wang, Jing Peng, Chong Xie, Chunran Xue, Song Gao, Li Gao, Yiwei Yang, Yuhui Wang, Lu Zhang, Yong Hao, Yangtai Guan
{"title":"Efgartigimod following plasma exchange in the treatment of subjects with generalised myasthenia gravis: study protocol for a multicentre, three-arm, open-label study.","authors":"Kan Wang, Qiuju Li, Yanan Wu, Mengze Zhang, Xiaokun Wang, Jing Peng, Chong Xie, Chunran Xue, Song Gao, Li Gao, Yiwei Yang, Yuhui Wang, Lu Zhang, Yong Hao, Yangtai Guan","doi":"10.1136/bmjno-2025-001180","DOIUrl":"10.1136/bmjno-2025-001180","url":null,"abstract":"<p><strong>Introduction: </strong>Myasthenia gravis (MG), an IgG-mediated autoimmune disorder targeting neuromuscular junctions, shows refractory in 12-20% of generalised MG (gMG) patients despite immunotherapies. Plasma exchange (PLEX) transiently depletes pathogenic mediators, while neonatal Fc receptor antagonists (eg, efgartigimod) offer novel therapeutic potential. Both PLEX and efgartigimod require adjunctive non-steroidal immunosuppressive therapy (NSIST) for sustained remission. This study aims to evaluate the effectiveness and safety of efgartigimod working as a bridge treatment after PLEX but before NSIST taking effect, while concurrently conducting a comparative analysis of clinical outcomes between PLEX and efgartigimod in gMG.</p><p><strong>Methods and analysis: </strong>This multicentre, open-label, three-arm trial (n=45 gMG patients) assigns cohorts to PLEX+efgartigimod, PLEX alone or efgartigimod alone. The intervention comprises PLEX and/or efgartigimod. Oral glucocorticoids and cholinesterase inhibitors are allowed during this study. NSIST starts the day after completing PLEX or the second dose of efgartigimod. Outcomes are assessed at weeks 4, 8, 12, 16, 20, 24, 36 and 48. Primary endpoint: proportion achieving minimal symptom expression (MSE) at week 48. Secondary endpoints: median time to first MSE, adverse events (AE) incidence/severity, exacerbation rates, neurological functional assessment scores, cholinesterase inhibitor/corticosteroid usage, serological evolution of immunological markers. All AEs are systematically documented and causality-assessed.</p><p><strong>Ethics and dissemination: </strong>Ethical clearance for this investigation was granted by the Institutional Review Board of Punan Hospital in accordance with Declaration of Helsinki principles. All enrolled participants will provide written informed consent through standardised documentation processes prior to study enrolment. The results will be accessible in peer-reviewed publications.</p><p><strong>Trial registration number: </strong>ChiCTR2500104662.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001180"},"PeriodicalIF":2.4,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FAT1-weighted MRI-guided focused ultrasound thalamotomy for essential tremor. fat1加权mri引导下聚焦超声丘脑切开术治疗特发性震颤。
IF 2.4
BMJ Neurology Open Pub Date : 2025-07-28 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001104
San San Xu, Harith Akram, Valentina Lind, Jonathan Hyam, Indran Davagnanam, Prasad Korlipara, Tabish A Saifee, Thomas Foltynie, Ludvic Zrinzo, Patricia Limousin, Marie T Krüger
{"title":"FAT1-weighted MRI-guided focused ultrasound thalamotomy for essential tremor.","authors":"San San Xu, Harith Akram, Valentina Lind, Jonathan Hyam, Indran Davagnanam, Prasad Korlipara, Tabish A Saifee, Thomas Foltynie, Ludvic Zrinzo, Patricia Limousin, Marie T Krüger","doi":"10.1136/bmjno-2025-001104","DOIUrl":"10.1136/bmjno-2025-001104","url":null,"abstract":"<p><strong>Background and objective: </strong>Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy of the ventral intermediate nucleus (Vim) is an effective therapy for medication-refractory essential tremor (ET). The Vim is not readily visualised on conventional MRI and targeting is routinely performed indirectly, with atlas co-ordinates. Inaccurate targeting due to interindividual anatomical variability can result in side effects and reduced efficacy. FAT1-weighted MRI is a high-resolution, high-fidelity modality that combines fractional anisotropy mapping and anatomical T1 sequences and allows direct visualisation of the Vim. Here, we assessed the outcomes of ET patients treated with a novel FAT1-weighted MRgFUS thalamotomy technique.</p><p><strong>Methods: </strong>Targeting was performed through direct visualisation of the Vim on FAT1-weighted MRI sequence. Clinical, technical and imaging data were collected prospectively at baseline, 6 and 12 months follow-up.</p><p><strong>Results: </strong>The first 14 consecutive ET patients undergoing MRgFUS at our centre were assessed. Their mean age was 73.6 years and disease duration was 31.8 years. There were significant improvements in treated hand tremor score (60%), disability score (71%) and quality of life (72%) and no clinically relevant side effects at 12 months. A mean of 6.9 sonications was performed and the mean time from first to last sonication was 34.6 min. Greater tremor improvement was observed with lesions in the inferior and lateral part of the Vim.</p><p><strong>Conclusion: </strong>This is the first case series assessing FAT1-guided Vim targeting in MRgFUS thalamotomy. These results demonstrate that this method is safe and clinically effective, with added technical advantages including low sonication numbers and short procedural time.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001104"},"PeriodicalIF":2.4,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Relationship between brain atrophy and disability in a multi-site multiple sclerosis registry. 多位点多发性硬化症登记中脑萎缩与残疾的关系。
IF 2.4
BMJ Neurology Open Pub Date : 2025-07-22 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001126
Ai-Lan Nguyen, Dana Horakova, Eva H Havrdova, Michael Barnett, Maria Pia Sormani, Nicola De Stefano, Marco Battaglini, Manuela Vaneckova, Elaine Lui, Frank Gaillard, Patricia M Desmond, Hayden Prime, Mineesh Datta, Anneke van der Walt, Vilija G Jokubaitis, Femke Podevyn, Robert Zivadinov, Bianca Weinstock-Guttman, Marie B D'hooghe, Guy Nagels, Vincent Van Pesch, Guy Laureys, Liesbeth Van Hijfte, Jeannette Lechner-Scott, Francesco Patti, Edgardo Cristiano, Juan I Rojas, Diana M Sima, Wim Van Hecke, Tomas Kalincik, Helmut Butzkueven
{"title":"Relationship between brain atrophy and disability in a multi-site multiple sclerosis registry.","authors":"Ai-Lan Nguyen, Dana Horakova, Eva H Havrdova, Michael Barnett, Maria Pia Sormani, Nicola De Stefano, Marco Battaglini, Manuela Vaneckova, Elaine Lui, Frank Gaillard, Patricia M Desmond, Hayden Prime, Mineesh Datta, Anneke van der Walt, Vilija G Jokubaitis, Femke Podevyn, Robert Zivadinov, Bianca Weinstock-Guttman, Marie B D'hooghe, Guy Nagels, Vincent Van Pesch, Guy Laureys, Liesbeth Van Hijfte, Jeannette Lechner-Scott, Francesco Patti, Edgardo Cristiano, Juan I Rojas, Diana M Sima, Wim Van Hecke, Tomas Kalincik, Helmut Butzkueven","doi":"10.1136/bmjno-2025-001126","DOIUrl":"10.1136/bmjno-2025-001126","url":null,"abstract":"<p><strong>Background: </strong>In a retrospective multicentre cohort study, we explored the association between brain atrophy and multiple sclerosis (MS) disability using different MRI scanners and protocols at multiple sites.</p><p><strong>Methods: </strong>Relapse-onset MS patients were included if they had two clinical MRIs 12 months apart and ≥2 Expanded Disability Status Scale (EDSS) scores. Percentage brain volume change (PBVC), percentage grey matter change (PGMC), fluid-attenuated inversion recovery (FLAIR) lesion volume change, whole brain volume (BV), grey matter volume (GMV), FLAIR lesion volume and T1 hypointense lesion volume were assessed by icobrain. Disability was measured by EDSS scores and 6-month confirmed disability progression (CDP).</p><p><strong>Results: </strong>Of the 260 relapse-onset MS patients included, 204 (78%) MRI pairs were performed in the same scanner and 56 (22%) pairs were from different scanners. 93% of patients were on treatment and mean PBVC was -0.26% (±0.52). During the median follow-up of 2.8 years from the second MRI, median EDSS change was 0.0 and 12% patients experienced 6-month CDP. Cross-sectional BV and GMV at the later MRI showed a trend for association with CDP (HR 0.99; 95% CI 0.98 to 1.00; p=0.06). Only BV at the later MRI was associated with EDSS score (β -0.03, SE 0.01, p<0.001) and the rate of EDSS change over time (β -0.001, SE 0.0003, p=0.02). There was no association between longitudinal PBVC or PGMC and CDP or EDSS (p>0.05).</p><p><strong>Conclusion: </strong>In this highly treated MS cohort with low disability accrual, only cross-sectional BV showed an association with future EDSS scores, while no MRI metric predicted 6-month CDP. These findings highlight the limitations of current clinical MRI measures in predicting disability worsening in real-world settings.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001126"},"PeriodicalIF":2.4,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Communicating the risk of dementia: a scoping review. 传达痴呆症的风险:范围审查。
IF 2.4
BMJ Neurology Open Pub Date : 2025-07-22 eCollection Date: 2025-01-01 DOI: 10.1136/bmjno-2025-001138
Maja Swirska, Axel A S Laurell, Emad Sidhom, Damiano Pizzol, Lee Smith, Benjamin R Underwood
{"title":"Communicating the risk of dementia: a scoping review.","authors":"Maja Swirska, Axel A S Laurell, Emad Sidhom, Damiano Pizzol, Lee Smith, Benjamin R Underwood","doi":"10.1136/bmjno-2025-001138","DOIUrl":"10.1136/bmjno-2025-001138","url":null,"abstract":"<p><strong>Background: </strong>Dementia is a syndrome characterised by progressive cognitive and functional decline arising from a neurodegenerative disease. Genetic testing, imaging and fluid biomarkers mean that levels of risk of dementia diagnosis are becoming frequent and complex. How risk is communicated in this context is an increasingly important topic.</p><p><strong>Aims: </strong>The aim of this scoping review is to map the existing literature regarding the components of risk communication, the factors influencing its outcomes and the guidelines developed to support clinicians in this process.</p><p><strong>Methods: </strong>This is a systematic scoping review addressing the communication of risk to individuals living with or at risk of dementia, as well as perspectives of family, carers and healthcare professionals.</p><p><strong>Results: </strong>115 articles were identified, including genetic (n=41), amyloid (n=45) and other biomarkers (n=9). Patients expressed a desire to be informed about their risk of developing dementia, listing future planning and participation in clinical research as benefits of disclosure. While risk disclosure did not significantly impact anxiety or depression, it was associated with increased event distress among participants identified as elevated risk. Individuals at high risk frequently overestimated their likelihood of developing dementia. Tools and guidelines that have supported clinicians in risk disclosure emphasised the use of educational materials, clear communication about risk and prognosis, and regular follow-up appointments. Gaps in literature include blood biomarkers, non-Alzheimer's disease dementias and communication to people with cognitive impairment.</p><p><strong>Conclusions: </strong>Risk communication is a crucial topic for healthcare professionals, especially since the emergence of novel techniques to predict dementia.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 2","pages":"e001138"},"PeriodicalIF":2.4,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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