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Mapping end-of-life care for patients with neurological conditions in German hospices: a point prevalence survey. 绘制临终关怀的病人与神经条件在德国临终关怀:一个点流行调查。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-25 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001404
Sarah Kristina Bublitz, Stefan Lorenzl, André Klima, Susann Schmidt, Benno Schäffer, Sabine Gleich

Background: Access to palliative care for patients with neurological diseases remains limited. Contributing factors include difficulties in predicting disease trajectories, resource constraints in long-term care and challenges in identifying the end-of-life phase-often compounded by communication and cognitive impairments.

Methods: We conducted a national point-prevalence survey among German inpatient hospices using an online questionnaire.

Results: The response rate was 44%, with 83% of participating hospices providing complete datasets. Most patients in hospices suffered from oncological diseases (n=785; 77.3%), including primary brain tumours (n=102; 10.0%). At the time of the survey, neurological diagnoses accounted for approximately 5% of hospice admissions. While 51% of hospices reported having access to neurological consultation, this was usually informal or ad hoc. 19% reported no current access to a neurologist but considered such collaboration desirable.

Conclusions: This survey provides an overview of the current representation of patients with neurological conditions in German inpatient hospices. The findings reveal limited structured collaboration between neurology and palliative care, alongside structural and societal barriers that complicate timely hospice referral and end-of-life planning. Strengthening interdisciplinary cooperation, enhancing neurologists' engagement in palliative care and expanding specialised outpatient support for patients and families are essential to improving equitable and needs-based end-of-life care for individuals with neurological conditions.

背景:神经系统疾病患者获得姑息治疗的机会仍然有限。造成影响的因素包括难以预测疾病轨迹、长期护理的资源限制和确定生命末期阶段的挑战——往往再加上沟通和认知障碍。方法:我们使用在线问卷对德国住院安宁疗护所进行了全国性的点患病率调查。结果:回复率为44%,83%的参与收容所提供完整的数据集。临终关怀医院的大多数病人患有肿瘤疾病(785例;77.3%),包括原发性脑肿瘤(102例;10.0%)。在调查期间,神经学诊断约占临终关怀入院人数的5%。虽然51%的临终关怀医院报告可以获得神经学咨询,但这通常是非正式的或临时的。19%的人表示目前没有接触神经科医生,但认为这种合作是可取的。结论:这项调查提供了一个概述目前代表的病人与神经系统疾病在德国住院临终关怀。研究结果表明,神经病学和姑息治疗之间有限的结构化合作,以及结构和社会障碍,使及时的临终关怀转诊和临终计划复杂化。加强跨学科合作,加强神经科医生对姑息治疗的参与,扩大对患者和家属的专门门诊支持,对于改善公平和基于需求的神经系统疾病患者临终关怀至关重要。
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引用次数: 0
Predicting cancer aetiology in patients with stroke using brain imaging alone. 仅用脑成像预测中风患者的癌症病因。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-25 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001197
Shyam Gangadharan, Christopher Levi, Mark Parsons, Neil Spratt, Carlos Garcia Esperon, Sarah Johnson, Md Golam Hasnain, Raka Datta, Beng Lim Alvin Chew

Background: Ischaemic stroke due to cancer is becoming more common with high mortality rate. There is an unmet need to predict cancer aetiology in patients with stroke using brain imaging alone, to facilitate early diagnosis and treatment.

Aims: To describe unique brain imaging patterns of cancer-related stroke and thereby develop a predictive model for diagnosis of stroke due to cancer. Our hypothesis was that such imaging patterns would be more closely associated with metastatic cancer.

Methods: Retrospective cohort study at two neighbouring sites in Australia from 2014 to 2022. The cohort group included patients with acute ischaemic stroke due to active cancer. The control group consisted of conventional stroke aetiologies and no active cancer diagnosis. Brain imaging using MRI diffusion-weighted imaging sequences classified lesions by distribution, vascular territories, lesion number and whether multifocal, crossed territories or scattered. Statistical analysis used adjusted logistic regression models. Machine learning-based predictive modelling evaluated the predictive capacity on a diagnosis of metastatic cancer.

Results: There were 138 patients available for analysis. A three-territory sign was the only significant imaging predictor for cancer aetiology in the multivariable analysis (OR 20.79; 95% CI 2.44 to 177.47, p=0.006). In the machine learning modelling, both logistic regression and support vector machines models predicted the presence of metastatic cancer well with a balanced accuracy of 75% and 79%, respectively, and area under the curve (receiver operating characteristic area) scores of 0.85 and 0.87, respectively.

Conclusions: Brain imaging alone might potentially predict cancer aetiology with good accuracy in patients with stroke, especially in metastatic cancer.

背景:癌症引起的缺血性脑卒中越来越常见,死亡率高。仅通过脑成像来预测脑卒中患者的癌症病因,以促进早期诊断和治疗,这一需求尚未得到满足。目的:描述癌症相关脑卒中的独特脑成像模式,从而建立癌症脑卒中诊断的预测模型。我们的假设是,这种成像模式将与转移性癌症更密切相关。方法:2014 - 2022年在澳大利亚两个邻近地区进行回顾性队列研究。队列组包括因活动性癌症引起的急性缺血性脑卒中患者。对照组为常规脑卒中病因,无活动性肿瘤诊断。脑成像采用MRI弥散加权成像序列,根据病变分布、血管区域、病变数量、多灶性、跨区域性和分散性对病变进行分类。统计分析采用调整后的逻辑回归模型。基于机器学习的预测模型评估了转移性癌症诊断的预测能力。结果:有138例可供分析。在多变量分析中,三区征象是唯一重要的癌症病因影像学预测因子(OR 20.79; 95% CI 2.44 ~ 177.47, p=0.006)。在机器学习建模中,逻辑回归和支持向量机模型都能很好地预测转移性癌症的存在,平衡准确率分别为75%和79%,曲线下面积(接受者工作特征面积)得分分别为0.85和0.87。结论:单独的脑成像可以很准确地预测脑卒中患者的癌症病因,尤其是转移性癌症。
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引用次数: 0
Neurophobia among the Egyptian early-career physicians: the first national multi-centre report. 埃及早期职业医生的神经恐惧症:第一份国家多中心报告。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-25 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001514
Hossam Tharwat Ali, Abdalrahman Salah Shehata, Nada A Al-Shafey, Mohamed M Khalaf, Esraa Reda Abdelaziz, Dalia Atef Abouda, Mustafa Faris Elesway, Sara Hosny El-Farargy

Background: There is a shortage of neurologists at a time when brain disorders have become major contributors to disability and death worldwide. This is the first national study of Egyptian early-career physicians, exploring their attitudes towards neurology and neuroscience.

Methods: This cross-sectional study took place in September and October 2024 using a structured, self-administered online questionnaire, comprising Likert-scale, multiple-choice and closed-ended questions. We calculated the mean and SD for the score of each speciality in different characteristics (ie, interest, difficulty, confidence and knowledge). The concept of neurophobia was defined as a combined confidence and difficulty score of ≤4 points. Data analysis was done using R Statistical Software (V.4.4.2, R Core Team).

Results: Our study included 445 participants, comprising 384 interns (86%), 23 primary care physicians (5.2%) and 38 residents (8.5%). Around 51% of interns and primary care physicians were males, compared with 34% of residents. A total of 205 (50.4%) of the interns and primary care physicians exhibited neurophobia, followed by 197 (48.4%) to cardiology, and 132 (32.4%) to geriatrics. The most common factors for neurophobia were trouble with neuroanatomy (48.9%), lack of curative treatment or poor prognosis (35.6%), too many rare diagnoses (34.2%), poor teaching (25.8%) and trouble with basic neuroscience (22.4%). Interns and primary care physicians showed a moderate likelihood of specialising in neurology with a mean (SD) score of 2.55 (1.09).

Conclusions: The current study provided a summary of residents' perspectives toward neurology and neuroscience as well as suggestions to combat neurophobia.

背景:当脑部疾病成为世界范围内残疾和死亡的主要原因时,神经科医生短缺。这是对埃及早期职业医生的第一次全国性研究,探索他们对神经病学和神经科学的态度。方法:本横断面研究于2024年9月和10月进行,采用结构化、自我管理的在线问卷,包括李克特量表、多项选择和封闭式问题。我们计算了各专业在不同特征(即兴趣、难度、信心和知识)上得分的均值和标准差。神经恐惧症的概念定义为信心和困难总分≤4分。数据分析使用R统计软件(V.4.4.2, R Core Team)完成。结果:我们的研究纳入445名参与者,包括384名实习生(86%),23名初级保健医生(5.2%)和38名住院医生(8.5%)。大约51%的实习生和初级保健医生是男性,而住院医生的比例为34%。共有205人(50.4%)表现出神经恐惧症,其次是心脏病科197人(48.4%),老年科132人(32.4%)。神经恐惧症最常见的因素是神经解剖学问题(48.9%)、缺乏根治治疗或预后不良(35.6%)、罕见诊断太多(34.2%)、教学质量差(25.8%)和基础神经科学问题(22.4%)。实习生和初级保健医生的平均(SD)得分为2.55(1.09),显示出中等程度的神经病学专业可能性。结论:本研究总结了住院医师对神经病学和神经科学的看法,并提出了治疗神经恐惧症的建议。
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引用次数: 0
Perinatal, neurodevelopmental and childhood health factors in patients with functional neurological disorder: a retrospective case-record study in a tertiary neuropsychiatry cohort. 围产期、神经发育和儿童健康因素对功能性神经障碍患者的影响:三级神经精神病学队列的回顾性病例记录研究
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-25 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001515
Bruce Tamilson, Jimmy T K Tse, Leo Nihoyannopoulos, Mahinda Yogarajah, Niruj Agrawal

Background: Functional neurological disorder (FND) is a complex neuropsychiatric condition. While psychological factors have been widely studied, less is known about the role of perinatal, neurodevelopmental and childhood/adolescent physical health factors.

Objective: This retrospective case record review aimed to examine the prevalence of perinatal, neurodevelopmental and childhood/adolescent physical health factors in patients with FND and their associations with FND subtypes.

Methods: Clinical records of 282 individuals diagnosed with FND were analysed for perinatal problems, neurodevelopmental problems and childhood/adolescent medical history. Functional symptoms were categorised into seizure, motor, sensory and cognitive subtypes.

Results: Perinatal problems (31.9%), neurodevelopmental delays (18.1%) and neurodivergent conditions (19.6%) were frequently reported in this cohort. Additionally, 48.2% had a significant physical illness during childhood or adolescence. Functional seizures were significantly associated with neurodevelopmental delays.

Conclusion: Neurodevelopmental and childhood/adolescent physical health problems were frequently identified in this FND cohort and may be relevant to the heterogeneity and complexity of symptom presentation. These findings support considering neurodevelopmental vulnerability as an associated clinical dimension in patients with FND, while not implying or precluding a mechanistic role.

背景:功能性神经障碍(FND)是一种复杂的神经精神疾病。虽然心理因素已被广泛研究,但对围产期、神经发育和儿童/青少年身体健康因素的作用知之甚少。目的:本研究旨在探讨FND患者围产期、神经发育和儿童/青少年身体健康因素的患病率及其与FND亚型的关系。方法:分析282例FND患者的围生期问题、神经发育问题和儿童/青少年病史。功能症状分为癫痫、运动、感觉和认知亚型。结果:围产期问题(31.9%)、神经发育迟缓(18.1%)和神经发散性疾病(19.6%)在该队列中经常被报道。此外,48.2%的人在儿童或青少年时期患有严重的身体疾病。功能性癫痫发作与神经发育迟缓显著相关。结论:神经发育和儿童/青少年身体健康问题在FND队列中经常被发现,可能与症状表现的异质性和复杂性有关。这些发现支持将神经发育易感性视为FND患者的相关临床维度,但不暗示或排除其机制作用。
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引用次数: 0
PM 2.5 and black carbon associated with acute ischaemic stroke: an ecological study. PM 2.5和黑碳与急性缺血性中风有关:一项生态学研究。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-23 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001035
Kannikar Kongbunkiat, Pipat Pattanapipitpaisal, Suphasit Seoratanaphunt, Udomlack Peansukwech, Nisa Vorasoot, Narongrit Kasemsap, Somsak Tiamkao, Verajit Chotmongkol, Thanat Nakaphan, Kittisak Sawanyawisuth

Background: Although both particulate matter with a diameter of 2.5 μm (PM 2.5) and black carbon are associated with cardiovascular disease, data on the correlation of PM 2.5 and black carbon with acute ischaemic stroke, particularly based on ecological research, remain limited.

Aim: To evaluate the association of PM 2.5 and black carbon with cases of acute ischaemic stroke in Thailand adjusted for physical factors.

Methods: In our ecological study, we collected data from the Health Insurance Database, which covers approximately 70% of Thailand's population from 77 provinces, about numbers of patients with acute ischaemic stroke who were admitted and reimbursed. The data of PM 2.5 and black carbon were collected. The predictive model of cases of acute ischaemic stroke in relation to PM 2.5 and black carbon was computed by Poisson regression analysis adjusted for physical factors.

Results: During the study period, 201 023 patients were diagnosed as having acute ischaemic stroke in 77 provinces in Thailand. The median of PM 2.5 and black carbon of all provinces was 29.19 (range: 18.88-34.50) and 1.17 (range: 0.43-2.29) µg/m3, respectively. PM 2.5 and black carbon were significantly associated with cases of acute ischaemic stroke with adjusted coefficients of 0.008 and 0.179, respectively (p<0.001 for both factors).

Conclusions: Our ecological study showed that both PM 2.5 and black carbon are associated with cases of acute ischaemic stroke in Thailand.

背景:虽然直径为2.5 μm的颗粒物(PM 2.5)和黑碳都与心血管疾病有关,但关于PM 2.5和黑碳与急性缺血性卒中相关性的数据,特别是基于生态学研究的数据仍然有限。目的:评价经物理因素调整后的泰国地区PM 2.5和黑碳与急性缺血性脑卒中的关系。方法:在我们的生态研究中,我们从健康保险数据库中收集数据,该数据库覆盖了泰国77个省份约70%的人口,涉及急性缺血性中风患者入院和报销的数量。采集了pm2.5和炭黑的数据。通过泊松回归分析,调整物理因素,建立急性缺血性脑卒中病例与pm2.5和黑碳的关系预测模型。结果:在研究期间,泰国77个省的20123例患者被诊断为急性缺血性脑卒中。各省pm2.5和黑碳的中位数分别为29.19(18.88 ~ 34.50)和1.17(0.43 ~ 2.29)µg/m3。PM 2.5和黑碳与急性缺血性脑卒中病例显著相关,调整系数分别为0.008和0.179。结论:我们的生态研究表明PM 2.5和黑碳与泰国急性缺血性脑卒中病例相关。
{"title":"PM 2.5 and black carbon associated with acute ischaemic stroke: an ecological study.","authors":"Kannikar Kongbunkiat, Pipat Pattanapipitpaisal, Suphasit Seoratanaphunt, Udomlack Peansukwech, Nisa Vorasoot, Narongrit Kasemsap, Somsak Tiamkao, Verajit Chotmongkol, Thanat Nakaphan, Kittisak Sawanyawisuth","doi":"10.1136/bmjno-2025-001035","DOIUrl":"https://doi.org/10.1136/bmjno-2025-001035","url":null,"abstract":"<p><strong>Background: </strong>Although both particulate matter with a diameter of 2.5 μm (PM 2.5) and black carbon are associated with cardiovascular disease, data on the correlation of PM 2.5 and black carbon with acute ischaemic stroke, particularly based on ecological research, remain limited.</p><p><strong>Aim: </strong>To evaluate the association of PM 2.5 and black carbon with cases of acute ischaemic stroke in Thailand adjusted for physical factors.</p><p><strong>Methods: </strong>In our ecological study, we collected data from the Health Insurance Database, which covers approximately 70% of Thailand's population from 77 provinces, about numbers of patients with acute ischaemic stroke who were admitted and reimbursed. The data of PM 2.5 and black carbon were collected. The predictive model of cases of acute ischaemic stroke in relation to PM 2.5 and black carbon was computed by Poisson regression analysis adjusted for physical factors.</p><p><strong>Results: </strong>During the study period, 201 023 patients were diagnosed as having acute ischaemic stroke in 77 provinces in Thailand. The median of PM 2.5 and black carbon of all provinces was 29.19 (range: 18.88-34.50) and 1.17 (range: 0.43-2.29) µg/m<sup>3</sup>, respectively. PM 2.5 and black carbon were significantly associated with cases of acute ischaemic stroke with adjusted coefficients of 0.008 and 0.179, respectively (p<0.001 for both factors).</p><p><strong>Conclusions: </strong>Our ecological study showed that both PM 2.5 and black carbon are associated with cases of acute ischaemic stroke in Thailand.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 1","pages":"e001035"},"PeriodicalIF":2.4,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12931535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147291731","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
High-income country-supported telestroke thrombolysis to a lower-middle income country: an international proof-of-concept case report. 高收入国家支持的对中低收入国家的脑卒中溶栓:一份国际概念验证病例报告。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-19 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001372
Willie Toua, Carlos Garcia-Esperon, Wilma Bohage, Hellen Zeming, Neil Spratt, Christopher Levi, Mark Parsons, Anna Ranta

Background: The use of telestroke to support patient care beyond geographical boundaries remains underexplored.

Methods: We report the first international telestroke experience between Papua New Guinea (PNG) and Australia, as well as a review of the existing evidence of telestroke support beyond borders.

Results: In this case vignette, a PNG physician sought support and a second opinion from an Australian stroke neurologist on the management of a patient presenting with stroke symptoms. Despite the 'ad hoc' nature of the process and lack of protocol for such consultation at the time of the review, the patient was successfully treated and had an excellent recovery.

Conclusion: In our opinion, international telestroke support is currently underused to guide patient care and physician education in low- and middle-income countries.

背景:使用远程中风来支持超越地理界限的病人护理仍未得到充分探索。方法:我们报告了巴布亚新几内亚(PNG)和澳大利亚之间的第一个国际远程卒中经验,以及对现有的跨境远程卒中支持证据的回顾。结果:在这个病例小故事中,一名巴布亚新几内亚医生向一名澳大利亚中风神经科医生寻求支持和第二意见,以处理出现中风症状的患者。尽管该过程具有“临时”性质,并且在审查时缺乏此类咨询的协议,但患者成功治疗并恢复良好。结论:我们认为,目前在中低收入国家,国际远程卒中支持在指导患者护理和医生教育方面的应用不足。
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引用次数: 0
Aotearoa New Zealand's neurologist workforce: a 2024 analysis of demand, supply and projections. 新西兰的神经学家劳动力:2024年的需求、供应和预测分析。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-18 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001397
Anna Ranta, John Mottershead, Sarah M Buchanan, Calvin Chan, Nicholas Child, Evan Jolliffe, Miriam Rodrigues, Janice Kang, Matthew C L Phillips, Nicholas Cutfield, Jennifer Taylor, John Fink, Peter Alan Barber

Aims: To describe the Aotearoa New Zealand (NZ) neurology workforce, estimate neurology capacity, trends over time and future projections to assist with health sector planning.

Methods: 2024 neurology workforce demographics, capacity and productivity were derived from multiple overlapping data sources including a nationwide individual neurologist and public hospital neurology unit head surveys, Health NZ and Royal Australasian College of Physicians data, and annual survey data from the Australian and New Zealand Association of Neurologists. Neurological service demand was assessed using epidemiological data, prior reported demand models and considered local practice patterns. Comparisons were made to our 2014 NZ report, Australian and international data. Projections were made modelling several scenarios.

Results: In 2024, there were 83 individual neurologists in NZ providing 67.3 full-time equivalents (FTEs) including 52.6 public adult, 8.3 paediatric and 6.4 private neurology FTE. The public sector FTE compared with 36 FTE in 2014. The combined adult headcount equates to 1 neurologist per 74 604 people (1.34/100 000) compared with Australia where there is 1 neurologist per 41 000 people (2.77/100 000) and 1 in 14 000 (7.1/100 000) in other high-income countries around the globe. A recent Australian workforce model estimated a minimum demand of 1 neurologist per 28 000 based on updated neurological disease and best-practice management requirements. If current training, recruitment, retention and practice patterns persist, projections indicate there will be a gradual worsening in the NZ neurology workforce over time.

Conclusions: The NZ neurology workforce has increased over the past 10 years, but NZ ranks well below other high-income countries globally, and demand continues to significantly exceed supply. This remains true, even after adjusting for NZ practice patterns which favour generalist over subspecialist care. If current trends continue, the gap is expected to widen rather than narrow over the next 12 years.

目的:描述新西兰奥特罗阿(NZ)神经病学工作人员,估计神经病学能力,长期趋势和未来预测,以协助卫生部门规划。方法:2024年神经病学工作人员的人口统计、能力和生产力来源于多个重叠的数据源,包括全国单个神经科医生和公立医院神经病学单位负责人调查、新西兰卫生部和皇家澳大拉西亚医师学院数据,以及澳大利亚和新西兰神经科医师协会的年度调查数据。使用流行病学数据、先前报告的需求模型和考虑的当地实践模式评估神经系统服务需求。与我们2014年的新西兰报告、澳大利亚和国际数据进行了比较。对几种情况进行了模拟预测。结果:2024年,新西兰有83名神经科医生提供了67.3名全职当量(FTE),其中包括52.6名公立成人,8.3名儿科和6.4名私立神经病学FTE。2014年,公共部门全职员工人数为36人。合并后的成人人数相当于每74 604人(1.34/10万)有1名神经科医生,而澳大利亚每41 000人(2.77/10万)有1名神经科医生,全球其他高收入国家每14 000人(7.1/10万)有1名神经科医生。根据最新的神经疾病和最佳实践管理要求,澳大利亚最近的劳动力模型估计每28000人中至少需要1名神经科医生。如果目前的培训、招聘、保留和实践模式持续下去,预测表明,随着时间的推移,新西兰神经病学劳动力将逐渐恶化。结论:在过去的10年里,新西兰的神经病学工作人员有所增加,但新西兰的排名远远低于全球其他高收入国家,需求继续大大超过供应。这仍然是正确的,即使调整了新西兰的实践模式,有利于全科医生而不是亚专科护理。如果目前的趋势继续下去,这一差距预计将在未来12年扩大而不是缩小。
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引用次数: 0
Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS. 双等位基因中间ATXN2重复扩增与进展缓慢、腿部发病的家族性ALS有关。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-18 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001417
Koen Cedric Demaegd, Wouter Koole, Joke Jfa van Vugt, Jan Willem Dankbaar, Jeroen Hendrikse, A Nazlı Başak, Mamede de Carvalho, Philippe Corcia, Philippe Codron, Emilien Bernard, Claire Guissart, Philippe Couratier, Mónica Povedano Panades, Pieter A van Doorn, Bart P Warrenburg, Johnathan Cooper-Knock, R Jeroen Pasterkamp, Wouter van Rheenen, Philip van Damme, Leonard H van den Berg, Jan Herman Veldink, Michael A van Es

Objectives: The identification of bi-allelic intermediate ATXN2 repeat expansions in a pedigree with amyotrophic lateral sclerosis (ALS) through clinical testing prompted us to investigate its relevance in the wider ALS population.

Methods: ATXN2 repeat size was assessed in a large international cohort of ALS patients (n=6653 from Project MinE) and in neurologically intact control populations (n=13 515 controls from Project MinE and gnomad). For bi-allelic cases, we retrieved medical records, family history and MRI imaging. For familial cases, we obtained DNA samples from relatives for segregation analyses.

Results: In total, we identified bi-allelic intermediate ATXN2 repeat expansions in five familial cases from three different pedigrees and five apparently sporadic cases. There is a relatively homogeneous phenotype characterised by lower limb onset and long survival (median 6 years) without significant cerebellar atrophy. Bi-allelic expansions were absent in controls (0 out of 13 515).

Discussion: Here we report an apparently novel autosomal recessive form of familial ALS caused by bi-allelic intermediate ATXN2 repeat expansions, which is characterised by high penetrance, lower limb onset and slow progression. Although rare, testing for ATXN2 expansions should be performed in the clinical setting given its relevance to prognosis and genetic counselling.

目的:通过临床检测,在肌萎缩性侧索硬化症(ALS)谱系中发现双等位基因中间ATXN2重复扩增,这促使我们研究其在更广泛的ALS人群中的相关性。方法:在大型国际ALS患者队列(n=6653来自Project MinE)和神经完整对照人群(n=13 515来自Project MinE和gnomad)中评估ATXN2重复序列大小。对于双等位基因病例,我们检索了医疗记录、家族史和核磁共振成像。对于家族性病例,我们从亲属处获得DNA样本进行分离分析。结果:我们在来自三个不同家系的5例家族性病例和5例明显散发病例中发现了双等位基因中间ATXN2重复扩增。有一个相对均匀的表型,其特征是下肢发病和较长的生存期(中位6年),没有明显的小脑萎缩。在13 515个对照中没有双等位基因扩增(0个)。讨论:在这里,我们报告了一种明显新的常染色体隐性形式的家族性ALS,由双等位基因中间ATXN2重复扩增引起,其特征是高外显率,下肢发病和缓慢进展。尽管罕见,但鉴于其与预后和遗传咨询的相关性,应在临床环境中进行ATXN2扩增检测。
{"title":"Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.","authors":"Koen Cedric Demaegd, Wouter Koole, Joke Jfa van Vugt, Jan Willem Dankbaar, Jeroen Hendrikse, A Nazlı Başak, Mamede de Carvalho, Philippe Corcia, Philippe Codron, Emilien Bernard, Claire Guissart, Philippe Couratier, Mónica Povedano Panades, Pieter A van Doorn, Bart P Warrenburg, Johnathan Cooper-Knock, R Jeroen Pasterkamp, Wouter van Rheenen, Philip van Damme, Leonard H van den Berg, Jan Herman Veldink, Michael A van Es","doi":"10.1136/bmjno-2025-001417","DOIUrl":"https://doi.org/10.1136/bmjno-2025-001417","url":null,"abstract":"<p><strong>Objectives: </strong>The identification of bi-allelic intermediate <i>ATXN2</i> repeat expansions in a pedigree with amyotrophic lateral sclerosis (ALS) through clinical testing prompted us to investigate its relevance in the wider ALS population.</p><p><strong>Methods: </strong><i>ATXN2</i> repeat size was assessed in a large international cohort of ALS patients (n=6653 from Project MinE) and in neurologically intact control populations (n=13 515 controls from Project MinE and gnomad). For bi-allelic cases, we retrieved medical records, family history and MRI imaging. For familial cases, we obtained DNA samples from relatives for segregation analyses.</p><p><strong>Results: </strong>In total, we identified bi-allelic intermediate <i>ATXN2</i> repeat expansions in five familial cases from three different pedigrees and five apparently sporadic cases. There is a relatively homogeneous phenotype characterised by lower limb onset and long survival (median 6 years) without significant cerebellar atrophy. Bi-allelic expansions were absent in controls (0 out of 13 515).</p><p><strong>Discussion: </strong>Here we report an apparently novel autosomal recessive form of familial ALS caused by bi-allelic intermediate <i>ATXN2</i> repeat expansions, which is characterised by high penetrance, lower limb onset and slow progression. Although rare, testing for <i>ATXN2</i> expansions should be performed in the clinical setting given its relevance to prognosis and genetic counselling.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 1","pages":"e001417"},"PeriodicalIF":2.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12918675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147272889","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
Parkinson's disease care in Pakistan: overcoming challenges in low- and middle-income countries. 巴基斯坦帕金森病护理:克服低收入和中等收入国家的挑战。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-16 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001516
Sajid Hameed, Renzo Figari-Jordan
{"title":"Parkinson's disease care in Pakistan: overcoming challenges in low- and middle-income countries.","authors":"Sajid Hameed, Renzo Figari-Jordan","doi":"10.1136/bmjno-2025-001516","DOIUrl":"https://doi.org/10.1136/bmjno-2025-001516","url":null,"abstract":"","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 1","pages":"e001516"},"PeriodicalIF":2.4,"publicationDate":"2026-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12911694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222026","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
Impact of whole-body vibration training on gait in patients with progressive multiple sclerosis: a pilot randomised study. 全身振动训练对进行性多发性硬化症患者步态的影响:一项先导随机研究。
IF 2.4 Q3 CLINICAL NEUROLOGY Pub Date : 2026-02-12 eCollection Date: 2026-01-01 DOI: 10.1136/bmjno-2025-001481
Agni Maria Konitsioti, Yasemin Göreci, Martin Hellmich, Finja Schweitzer, Stefan Blaschke, Heidrun Golla, Larissa Waßner, Jennifer Stolzenberger, Gereon R Fink, Michael Schroeter, Eckhard Schoenau, Christina Stark, Clemens Warnke

Background: Oscillatory whole-body vibration (WBV) training improves strength and movement skills in healthy adults and individuals with various medical conditions. Studies examining the effects of WBV on gait disorder in people with multiple sclerosis (PwMS) of progressive disease form (progressive MS (PMS)), however, produced inconsistent results.

Objectives: To assess the feasibility and explore effects of WBV training on spastic gait in PwMS.

Design and methods: Single-centre randomised, single-blind, pilot study involving 30 PwMS with mild-to-moderate spastic gait disorder (Expanded Disability Status Scale (EDSS) 3.0-6.5). Patients were randomised 1:1 into arm 1 (12-week standard-of-care before WBV) and arm 2 (immediate WBV). WBV was delivered using a side-alternating Galileo Med 25 TT platform as a home-training programme, complemented by a standardised exercise protocol. The primary endpoint was the 6-minute walking distance (6MWD).

Results: The distribution between arms concerning age, sex, body mass index, EDSS and baseline 6MWD was balanced. Adherence to the protocol was similar across both arms, with 70% of all patients completing all three study visits, with four dropouts per arm. Efficacy analyses included participants completing ≥50% of WBV sessions, comprising 17 participants (57%). 67% of all participants experienced AEs, which were equally distributed across both groups and not severe. Participant satisfaction with the intervention was high, with 70% indicating willingness to repeat the training. After 12 weeks of WBV training, a non-significant numerical increase in median 6MWD was observed. Patient-reported spasticity, assessed using the MSSS88 (Multiple Sclerosis Spasticity Scale), showed a non-significant numerical decrease following WBV.

Conclusions: In this exploratory pilot study, we could demonstrate feasibility of a WBV intervention study in PwMS. As only 57% of the participants were able to complete the per-protocol training specifications, larger studies that intend to explore the efficacy of the WBV intervention in PMS should consider a less ambitious and a more individualised training protocol.

Trial registration number: DRKS00022962.

背景:振荡全身振动(WBV)训练可以提高健康成人和各种医疗条件下个体的力量和运动技能。然而,研究WBV对进行性疾病形式的多发性硬化症(PwMS)患者(进行性MS (PMS))步态障碍的影响,得出了不一致的结果。目的:探讨腰宽训练对肌痛综合征患者痉挛性步态的影响。设计和方法:单中心随机、单盲、试点研究,涉及30名患有轻度至中度痉挛性步态障碍的PwMS(扩展残疾状态量表(EDSS) 3.0-6.5)。患者按1:1随机分为1组(WBV前12周标准护理)和2组(立即WBV)。WBV使用侧面交替的Galileo Med 25 TT平台作为家庭训练计划,辅以标准化的练习方案。主要终点为6分钟步行距离(6MWD)。结果:年龄、性别、体质指数、EDSS及基线6MWD在各臂间分布均衡。两组患者对方案的依从性相似,70%的患者完成了所有三次研究访问,每组有4人退出。疗效分析包括完成≥50% WBV疗程的参与者,包括17名参与者(57%)。67%的参与者经历了不良反应,在两组中分布均匀且不严重。参与者对干预的满意度很高,70%的人表示愿意重复训练。经过12周的WBV训练后,观察到中位6MWD的数值增加不显著。使用MSSS88(多发性硬化症痉挛量表)评估患者报告的痉挛,WBV后显示无显著数值下降。结论:在这个探索性的试点研究中,我们可以证明WBV干预研究在PwMS中的可行性。由于只有57%的参与者能够完成每个方案的培训规范,因此,打算探索WBV干预在经前综合症中的功效的大型研究应考虑一个不那么雄心勃勃和更个性化的培训方案。试验注册号:DRKS00022962。
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BMJ Neurology Open
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