BMJ Neurology Open最新文献

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Cardioembolic stroke in an HIV endemic region: underdiagnosed and severe. 艾滋病流行地区的心肌栓塞性中风:诊断不足且病情严重。
IF 2.1
BMJ Neurology Open Pub Date : 2024-08-01 eCollection Date: 2024-01-01 DOI: 10.1136/bmjno-2023-000592
Eitzaz Sadiq, Angela Woodiwiss, Gavin Norton, Girish Modi
{"title":"Cardioembolic stroke in an HIV endemic region: underdiagnosed and severe.","authors":"Eitzaz Sadiq, Angela Woodiwiss, Gavin Norton, Girish Modi","doi":"10.1136/bmjno-2023-000592","DOIUrl":"10.1136/bmjno-2023-000592","url":null,"abstract":"<p><strong>Background and objectives: </strong>Cardioembolic stroke (CES) appears to be a rare cause of stroke (4%-9%) in people living with HIV (PLWH) in sub-Saharan Africa (SSA). However, due to limited access to diagnostic resources, this may be an underestimate. It is also unclear which cardiac pathologies are the major contributors to CES in this region. We sought to determine the prevalence and aetiology of CES in PLWH and to determine whether there are any differences compared with HIV negative stroke patients.</p><p><strong>Methods: </strong>This cross-sectional study recruited PLWH with new-onset stroke at a quaternary-level hospital in Johannesburg, South Africa, from 2014 to 2017, and compared them to age-matched and sex-matched HIV negative stroke patients. Comprehensive investigations were performed to determine the underlying stroke aetiology, including electrocardiography, echocardiography, CT angiography and cerebrospinal fluid examination.</p><p><strong>Results: </strong>85 PLWH with ischaemic stroke were recruited and compared with 109 HIV negative controls. CES was identified in 17/85 (20.0%) of PLWH. These patients had more severe strokes than PLWH with non-CES (National Institutes of Health Stroke Scale score 14.9±6.7 vs 11.7±5.4, p=0.04). Cardiomyopathy was the predominant cardiac pathology in PLWH (76.4% vs 45.5% in HIV negative, p=0.04) while valvulopathy was more common in HIV negative patients (42.4% vs 11.8% in PLWH, p=0.03). Arrhythmia (n=1) and ischaemic heart disease (n=1) were uncommon in PLWH.</p><p><strong>Conclusion: </strong>CES is underdiagnosed in SSA and is more severe than non-CES. The identification of cardiomyopathy as the predominant underlying cardiac pathology may assist to target resources towards its detection using accessible cost-effective biomarkers.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11298736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894858","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
Treatment outcomes in the inpatient management of severe functional neurological disorder: a retrospective cohort study 严重功能性神经紊乱住院治疗的疗效:一项回顾性队列研究
IF 2.7
BMJ Neurology Open Pub Date : 2024-07-01 DOI: 10.1136/bmjno-2024-000675
Chloe Saunders, Hetashi Bawa, Daron Aslanyan, Frances Coleman, Helen Jinadu, Natasha Sigala, Nick Medford
{"title":"Treatment outcomes in the inpatient management of severe functional neurological disorder: a retrospective cohort study","authors":"Chloe Saunders, Hetashi Bawa, Daron Aslanyan, Frances Coleman, Helen Jinadu, Natasha Sigala, Nick Medford","doi":"10.1136/bmjno-2024-000675","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000675","url":null,"abstract":"Background Functional neurological disorder (FND) is a heterogeneous condition; severe forms can be disabling. Multidisciplinary treatment and rehabilitation are recommended for severe FND, but there remains a lack of evidence for its efficacy and lack of understanding of the predictors and components of recovery. Methods We report clinical outcome data for an inpatient cohort with severe FND. Clinical Global Impression Improvement with treatment is the primary outcome measure. Admission and discharge measures (Euroqol quality of life measures, Beck Depression Inventory, Spielberger Trait Anxiety Inventory, Cambridge Depersonalisation Scale, Illness Perception Questionnaire (Revised) and Functional Mobility Scale) are reported as secondary outcomes. Results We describe an FND cohort (n=52) with chronic illness (mean symptom duration 9.7 years). At admission, there were clinically relevant levels of depression, anxiety and depersonalisation derealisation. At the time of discharge, most (43/52) patients’ global condition had improved. Measures of mobility, depression and quality of life also significantly improved while at discharge, symptoms were experienced as more understandable and less distressing than at admission. An admission measure of patient confidence in treatment was predictive of eventual clinical outcome. Conclusions The most frequent outcome of inpatient rehabilitation is global improvement, even when symptoms are chronic and severe, reflected in measurable changes in both physical and psychological functioning. Significant levels of depersonalisation derealisation seen in this patient group suggest that routine enquiry into such experiences could help personalise FND treatment approaches. Patient confidence in treatment is key in determining clinical outcomes. As stated in the paper, data generated using the CRIS system need to remain within the SLAM firewall, but it is possible for these data to be released on reasonable request and the obtaining of the necessary permissions.","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141531930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thrombus age does not differentiate between cardiogenic and atherosclerotic strokes 血栓年龄并不能区分心源性中风和动脉粥样硬化性中风
IF 2.7
BMJ Neurology Open Pub Date : 2024-07-01 DOI: 10.1136/bmjno-2024-000724
Jens Jürgen Schwarze, Sophie Schumann, Silvio Brandt, Olaf Dirsch, Bernhard Rosengarten
{"title":"Thrombus age does not differentiate between cardiogenic and atherosclerotic strokes","authors":"Jens Jürgen Schwarze, Sophie Schumann, Silvio Brandt, Olaf Dirsch, Bernhard Rosengarten","doi":"10.1136/bmjno-2024-000724","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000724","url":null,"abstract":"Objective Interventional stroke therapy made thrombi available for histological analysis. Unfortunately, simple composition aspects such as erythrocyte versus fibrin/platelet rich did not allow a feasible allocation to thrombi’s cardiac or carotid origin. Since the mentioned criteria represent characteristics of thrombus age, we used established histological criteria for determining thrombus age in patients who had an atherosclerotic (TOAST (Trial of Org 10172 in Acute stroke Treatment) 1) stroke versus patients who had a cardioembolic (TOAST 2) stroke. Methods We assessed prospectively data from stroke patients presenting with occlusion of the middle cerebral artery eligible for catheter-based intervention. Besides patient characteristics and stroke workup, extracted thrombi were classified into different age categories according to their cellular to fibrotic transition. Thrombi were collected in an erythrocyte lysing solution to reduce acute clotting effects. Statistics were done with a non-parametric Kolmogorov-Smirnov test. Results 170 patients were included, of which 50 (38 men; 73±12 years) had a TOAST 1 and 99 (59 women; 75±10 years) had a TOAST 2 categorised stroke. Age, National Institutes of Health Stroke Score (13±7 vs 15±7), Alberta Stroke Program Early CT Score (9±3 vs 9±2), Thrombolysis in Cerebral Infarction Score (2.9±0.2 vs 2.9±0.3), modified Rankin Score on discharge (3.2±2 vs 3.2±2), number of vascular risk factors (0.9±1.4 vs 1.0±1.1) or time span between symptom onset to reperfusion (266±115 vs 260±128 min) remained non-significant. Also, thrombus age did not differ between the groups. The mean age of thrombi was 5–8 days. However, the male–female ratio differed significantly (p<0.0005) between groups, with more men in TOAST 1 group and more women in TOAST 2 group. Conclusion Age aspects of thrombi seem not feasible to allow reliable source allocation. However, the young age of thrombi points to a rapid detachment. The difference in sex relation is in line with previous reports. Data are available upon reasonable request. Due to local privacy policy conditions data are not publicly available. In case of interest a request should be sent to the corresponding author.","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141551161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Attending system for acute neurology care: experience in a UK centre 急性神经病学护理的主治医师制度:英国一家中心的经验
IF 2.7
BMJ Neurology Open Pub Date : 2024-07-01 DOI: 10.1136/bmjno-2023-000625
Alex Gordon, Daniel Lashley, Martin Sadler, Simon Edwards, Azlisham Mohd Nor, Elizabeth Househam, Alex Shah, Michael O’Gara, Eiman Abdelgadir, Omar Al Masri, Ginette Crossingham, Stephen Mullin, Stuart Weatherby
{"title":"Attending system for acute neurology care: experience in a UK centre","authors":"Alex Gordon, Daniel Lashley, Martin Sadler, Simon Edwards, Azlisham Mohd Nor, Elizabeth Househam, Alex Shah, Michael O’Gara, Eiman Abdelgadir, Omar Al Masri, Ginette Crossingham, Stephen Mullin, Stuart Weatherby","doi":"10.1136/bmjno-2023-000625","DOIUrl":"https://doi.org/10.1136/bmjno-2023-000625","url":null,"abstract":"Acute neurology makes up 10%–20% of the acute medical take in UK hospitals.[1][1] Despite this, almost two-thirds of patients with acute neurological problems in the UK are admitted to hospitals without any neurology inpatient beds.[2][2] Getting It Right First Time (GIRFT) is a national","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141754010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Virtual reality in functional neurological disorder: a theoretical framework and research agenda for use in the real world 功能性神经紊乱中的虚拟现实:在现实世界中使用的理论框架和研究议程
IF 2.7
BMJ Neurology Open Pub Date : 2024-07-01 DOI: 10.1136/bmjno-2023-000622
David Brouwer, Hamilton Morrin, Timothy R Nicholson, Devin B Terhune, Michelle Schrijnemaekers, Mark J Edwards, Jeannette Gelauff, Paul Shotbolt
{"title":"Virtual reality in functional neurological disorder: a theoretical framework and research agenda for use in the real world","authors":"David Brouwer, Hamilton Morrin, Timothy R Nicholson, Devin B Terhune, Michelle Schrijnemaekers, Mark J Edwards, Jeannette Gelauff, Paul Shotbolt","doi":"10.1136/bmjno-2023-000622","DOIUrl":"https://doi.org/10.1136/bmjno-2023-000622","url":null,"abstract":"Functional neurological disorder (FND) is a common and disabling condition at the intersection of neurology and psychiatry. Despite remarkable progress over recent decades, the mechanisms of FND are still poorly understood and there are limited diagnostic tools and effective treatments. One potentially promising treatment modality for FND is virtual reality (VR), which has been increasingly applied to a broad range of conditions, including neuropsychiatric disorders. FND has unique features, many of which suggest the particular relevance for, and potential efficacy of, VR in both better understanding and managing the disorder. In this review, we describe how VR might be leveraged in the treatment and diagnosis of FND (with a primary focus on motor FND and persistent perceptual-postural dizziness given their prominence in the literature), as well as the elucidation of neurocognitive mechanisms and symptom phenomenology. First, we review what has been published to date on the applications of VR in FND and related neuropsychiatric disorders. We then discuss the hypothesised mechanism(s) underlying FND, focusing on the features that are most relevant to VR applications. Finally, we discuss the potential of VR in (1) advancing mechanistic understanding, focusing specifically on sense of agency, attention and suggestibility, (2) overcoming diagnostic challenges and (3) developing novel treatment modalities. This review aims to develop a theoretical foundation and research agenda for the use of VR in FND that might be applicable or adaptable to other related disorders.","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141551162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Classifying and quantifying changes in papilloedema using machine learning. 利用机器学习对乳头水肿的变化进行分类和量化。
IF 2.1
BMJ Neurology Open Pub Date : 2024-06-26 eCollection Date: 2024-01-01 DOI: 10.1136/bmjno-2023-000503
Joseph Branco, Jui-Kai Wang, Tobias Elze, Mona K Garvin, Louis R Pasquale, Randy Kardon, Brian Woods, David Szanto, Mark J Kupersmith
{"title":"Classifying and quantifying changes in papilloedema using machine learning.","authors":"Joseph Branco, Jui-Kai Wang, Tobias Elze, Mona K Garvin, Louis R Pasquale, Randy Kardon, Brian Woods, David Szanto, Mark J Kupersmith","doi":"10.1136/bmjno-2023-000503","DOIUrl":"10.1136/bmjno-2023-000503","url":null,"abstract":"<p><strong>Background: </strong>Machine learning (ML) can differentiate papilloedema from normal optic discs using fundus photos. Currently, papilloedema severity is assessed using the descriptive, ordinal Frisén scale. We hypothesise that ML can quantify papilloedema and detect a treatment effect on papilloedema due to idiopathic intracranial hypertension.</p><p><strong>Methods: </strong>We trained a convolutional neural network to assign a Frisén grade to fundus photos taken from the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT). We applied modified subject-based fivefold cross-validation to grade 2979 longitudinal images from 158 participants' study eyes (ie, the eye with the worst mean deviation) in the IIHTT. Compared with the human expert-determined grades, we hypothesise that ML-estimated grades can also demonstrate differential changes over time in the IIHTT study eyes between the treatment (acetazolamide (ACZ) plus diet) and placebo (diet only) groups.</p><p><strong>Findings: </strong>The average ML-determined grade correlated strongly with the reference standard (r=0.76, p<0.001; mean absolute error=0.54). At the presentation, treatment groups had similar expert-determined and ML-determined Frisén grades. The average ML-determined grade for the ACZ group (1.7, 95% CI 1.5 to 1.8) was significantly lower (p=0.0003) than for the placebo group (2.3, 95% CI 2.0 to 2.5) at the 6-month trial outcome.</p><p><strong>Interpretation: </strong>Supervised ML of fundus photos quantified the degree of papilloedema and changes over time reflecting the effects of ACZ. Given the increasing availability of fundus photography, neurologists will be able to use ML to quantify papilloedema on a continuous scale that incorporates the features of the Frisén grade to monitor interventions.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11216071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477952","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
Predictions for functional outcome and mortality in acute ischaemic stroke following successful endovascular thrombectomy. 成功进行血管内血栓切除术后急性缺血性中风患者功能预后和死亡率的预测。
IF 2.1
BMJ Neurology Open Pub Date : 2024-06-25 eCollection Date: 2024-01-01 DOI: 10.1136/bmjno-2024-000707
Minyan Zeng, Luke Smith, Alix Bird, Vincent Quoc-Nam Trinh, Stephen Bacchi, Jackson Harvey, Mark Jenkinson, Rebecca Scroop, Timothy Kleinig, Jim Jannes, Lyle J Palmer
{"title":"Predictions for functional outcome and mortality in acute ischaemic stroke following successful endovascular thrombectomy.","authors":"Minyan Zeng, Luke Smith, Alix Bird, Vincent Quoc-Nam Trinh, Stephen Bacchi, Jackson Harvey, Mark Jenkinson, Rebecca Scroop, Timothy Kleinig, Jim Jannes, Lyle J Palmer","doi":"10.1136/bmjno-2024-000707","DOIUrl":"10.1136/bmjno-2024-000707","url":null,"abstract":"<p><strong>Background: </strong>Accurate outcome predictions for patients who had ischaemic stroke with successful reperfusion after endovascular thrombectomy (EVT) may improve patient treatment and care. Our study developed prediction models for key clinical outcomes in patients with successful reperfusion following EVT in an Australian population.</p><p><strong>Methods: </strong>The study included all patients who had ischaemic stroke with occlusion in the proximal anterior cerebral circulation and successful reperfusion post-EVT over a 7-year period. Multivariable logistic regression and Cox regression models, incorporating bootstrap and multiple imputation techniques, were used to identify predictors and develop models for key clinical outcomes: 3-month poor functional status; 30-day, 1-year and 3-year mortality; survival time.</p><p><strong>Results: </strong>A total of 978 patients were included in the analyses. Predictors associated with one or more poor outcomes include: older age (ORs for every 5-year increase: 1.22-1.40), higher premorbid functional modified Rankin Scale (ORs: 1.31-1.75), higher baseline National Institutes of Health Stroke Scale (ORs: 1.05-1.07) score, higher blood glucose (ORs: 1.08-1.19), larger core volume (ORs for every 10 mL increase: 1.10-1.22), pre-EVT thrombolytic therapy (ORs: 0.44-0.56), history of heart failure (outcome: 30-day mortality, OR=1.87), interhospital transfer (ORs: 1.42 to 1.53), non-rural/regional stroke onset (outcome: functional dependency, OR=0.64), longer onset-to-groin puncture time (outcome: 3-year mortality, OR=1.08) and atherosclerosis-caused stroke (outcome: functional dependency, OR=1.68). The models using these predictors demonstrated moderate predictive abilities (area under the receiver operating characteristic curve range: 0.752-0.796).</p><p><strong>Conclusion: </strong>Our models using real-world predictors assessed at hospital admission showed satisfactory performance in predicting poor functional outcomes and short-term and long-term mortality for patients with successful reperfusion following EVT. These can be used to inform EVT treatment provision and consent.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11202712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460616","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
Planned dose reduction of ocrelizumab in relapsing-remitting multiple sclerosis: a single-centre observational study. 复发缓解型多发性硬化症患者减少奥克雷珠单抗剂量的计划:一项单中心观察性研究。
IF 2.1
BMJ Neurology Open Pub Date : 2024-06-21 eCollection Date: 2024-01-01 DOI: 10.1136/bmjno-2024-000672
Trung Dang Quoc Tran, Leanne Hall, Clare Heal, Nagaraja Haleagrahara, Sharon Edwards, Mike Boggild
{"title":"Planned dose reduction of ocrelizumab in relapsing-remitting multiple sclerosis: a single-centre observational study.","authors":"Trung Dang Quoc Tran, Leanne Hall, Clare Heal, Nagaraja Haleagrahara, Sharon Edwards, Mike Boggild","doi":"10.1136/bmjno-2024-000672","DOIUrl":"10.1136/bmjno-2024-000672","url":null,"abstract":"<p><strong>Background: </strong>Ocrelizumab, a humanised anti-CD20 monoclonal, is a highly effective treatment for relapsing-remitting multiple sclerosis (RRMS). The long-term safety of B-cell depletion in RRMS, however, is uncertain and there are no data on dose reduction of ocrelizumab as a risk mitigation strategy. This study aimed to evaluate the effectiveness and safety of reducing ocrelizumab dose from 600 to 300 mg in patients with RRMS.</p><p><strong>Method: </strong>Data were collected through the Townsville neurology service. Following the standard randomised controlled trial regimen of 600 mg every 6 months for 2 years, sequential patients consented to dose reduction to 300 mg every 6 months. Patients were included if they were diagnosed with RRMS and received at least one reduced dose of ocrelizumab. Relapse, disability progression, new MRI lesions, CD19<sup>+</sup> cell counts and immunoglobulin concentrations were analysed.</p><p><strong>Results: </strong>A total of 35 patients, treated with 177 full and 107 reduced doses, were included. The mean follow-up on reduced dose was 17 (1-31) months. We observed no relapses or new MRI activity in the cohort receiving the reduced dose, accompanied by persistent CD19+B cell depletion (≤0.05×10<sup>9</sup>/L). Mean IgG, IgA and IgM levels remained stable throughout the study. No new safety concerns arose.</p><p><strong>Conclusions: </strong>In this single-centre observational study, dose reduction of ocrelizumab from 600 to 300 mg every 6 months after 2 years appeared to maintain efficacy in terms of new inflammatory disease activity. A randomised trial may be warranted to confirm this and explore the impact of dose reduction on long-term safety.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11191820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443721","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
Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report. 新发杂合性 CACNA1A 基因变异导致全身性肌张力障碍:病例报告。
IF 2.1
BMJ Neurology Open Pub Date : 2024-06-21 eCollection Date: 2024-01-01 DOI: 10.1136/bmjno-2024-000710
Mohammed Alshareet, Aljoharah Alakkas, Omar A Alsinaidi, Shahad Bawazeer, Abdul Ali Peer-Zada
{"title":"Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report.","authors":"Mohammed Alshareet, Aljoharah Alakkas, Omar A Alsinaidi, Shahad Bawazeer, Abdul Ali Peer-Zada","doi":"10.1136/bmjno-2024-000710","DOIUrl":"10.1136/bmjno-2024-000710","url":null,"abstract":"<p><strong>Background: </strong>Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with tremor. Genetic and phenotypic heterogeneity leads to variable clinical presentation.</p><p><strong>Methodology: </strong>Next-generation sequencing technologies are being currently used in the workup of patients with inherited dystonia to determine the specific cause in the individuals with autosomal dominant, recessive, X-linked or mitochondrial inheritance patterns. Calcium voltage-gated channel subunit alpha1 A (CACNA1A) gene variants are rare in dystonias.</p><p><strong>Results: </strong>We here present a 20-year-old man with a history of delayed milestones, flexor posturing, dysarthria, dysphagia and a negative family history from consanguineous parents. Neurological examination revealed right lateral scoliosis of the neck and generalised dystonic posturing affecting both upper and lower limbs. MRI of the brain was unremarkable. Molecular genetic results revealed a heterozygous variant in the CACNA1A gene (CHR19: NM_023035.2, c. 1602G>A; p. Met534Ile). Segregation analyses in both the parents revealed wild-type CACNA1A gene suggesting de novo nature of the variant with a likely pathogenic classification.</p><p><strong>Conclusion: </strong>Dystonia is one of the clinical phenotypes that can be associated with CACNA1A gene mutations and we recommend that this gene either be included in the dystonia panel offered or tested when the initial primary genetic result is negative.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11191759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443720","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
'Grasshopper sign': the novel imaging of post-COVID-19 myelopathy with delayed longitudinal white matter abnormalities. 蚱蜢征":COVID-19 后脊髓病伴有延迟性纵向白质异常的新型成像。
IF 2.7
BMJ Neurology Open Pub Date : 2024-06-12 eCollection Date: 2024-01-01 DOI: 10.1136/bmjno-2024-000730
Motohiro Okumura, Kazumasa Sekiguchi, Tomoko Okamoto, Reiko Saika, Hiroyuki Maki, Wakiro Sato, Noriko Sato, Takashi Yamamura, Yuji Takahashi
{"title":"'Grasshopper sign': the novel imaging of post-COVID-19 myelopathy with delayed longitudinal white matter abnormalities.","authors":"Motohiro Okumura, Kazumasa Sekiguchi, Tomoko Okamoto, Reiko Saika, Hiroyuki Maki, Wakiro Sato, Noriko Sato, Takashi Yamamura, Yuji Takahashi","doi":"10.1136/bmjno-2024-000730","DOIUrl":"10.1136/bmjno-2024-000730","url":null,"abstract":"<p><strong>Introduction: </strong>Recently, there have been a few reports of atypical post-coronavirus disease 2019 (COVID-19) myelopathy manifesting tract-specific lesions similar to those due to vitamin B<sub>12</sub> deficiency. However, the precise characteristics of imaging or clinical course remain not well understood.</p><p><strong>Methods: </strong>A retrospective analysis of the clinical and imaging characteristics of four patients who were referred to our hospital with a unique post-COVID-19 myelopathy was performed.</p><p><strong>Results: </strong>Four-to-six weeks following COVID-19 infection in the summer of 2023, four middle-aged men developed paraparesis, hypo/dysesthesia and bladder/bowel disturbance, suggesting myelopathy. Although spinal MRI showed no abnormalities in the early stages, tract-specific longitudinal lesions along the dorsal and lateral columns became apparent as the symptoms progressed. Owing to the lack of MRI findings at the early stage, all cases were challenging to diagnose. However, the patients remained partially responsive to aggressive immunosuppressive therapies, even in the advanced stage.</p><p><strong>Discussion: </strong>We termed these tract-specific longitudinal lesions in the presented case series 'Grasshopper sign' because brain coronal and spine axial MRI findings looked like a grasshopper's antennae and face. Early identification of the characteristic MRI abnormality could allow for early intervention using intensive immunosuppressive therapy, which could improve patient outcomes.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11177679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332445","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}
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