BMJ Neurology Open最新文献

{"title":"Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods?","authors":"Menachem Sadeh, Yakov Fellig, Ron Dabby","doi":"10.1136/bmjno-2024-000892","DOIUrl":"10.1136/bmjno-2024-000892","url":null,"abstract":"<p><strong>Background: </strong>Late-onset sporadic nemaline myopathy (SLONM) is a rare, treatable or potentially life-threatening muscle disorder that typically manifests late in life and is characterised by the presence of nemaline rods within muscle fibres, serving as the hallmark of the disease and the key to diagnosis.</p><p><strong>Methods: </strong>We report a case of an elderly patient with subacute onset of severe weakness affecting the upper and lower limbs, neck extensors and abdominal muscles. A comprehensive laboratory workup was performed.</p><p><strong>Results: </strong>Muscle biopsies showed nonspecific myopathic changes without inflammation, and electron microscopy did not reveal rods or aggregates. The laboratory workup was unremarkable except for the detection of monoclonal gammopathy of undetermined significance. Steroid treatment was ineffective; however, there was a notable positive response to intravenous immunoglobulins. The neurological findings, subacute course, normal creatine kinase levels, presence of monoclonal gammopathy of unknown significance and responsiveness to immunoglobulin treatment but not to steroids align with the characteristics of SLONM.</p><p><strong>Conclusion: </strong>We propose that the diagnosis of SLONM should be considered even in the absence of nemaline rods in muscle biopsy, and this should not impede the consideration of immunomodulatory treatment. Future progress in understanding the pathogenetic basis of SLONM may reduce reliance on pathological findings in muscle biopsies for establishing the diagnosis.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000892"},"PeriodicalIF":2.1,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677527","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}

{"title":"Catatonia in anti-NMDA receptor encephalitis: a case series and approach to improve outcomes with electroconvulsive therapy.","authors":"F Gabriela Kraiter, Dakota T May, Ryan D Slauer, Nandini Abburi, Christopher Eckstein, Suma Shah, Jonathan R Komisar, Jacob P Feigal","doi":"10.1136/bmjno-2024-000812","DOIUrl":"10.1136/bmjno-2024-000812","url":null,"abstract":"<p><strong>Background: </strong>Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis has been recognised to present with the syndrome of catatonia. In severe cases dysautonomia is representative of malignant catatonia. The treatment with benzodiazepines (BZDs) and electroconvulsive therapy (ECT) may decrease morbidity and mortality in patients presenting with anti-NMDA receptor encephalitis and catatonia.</p><p><strong>Methods: </strong>This is a retrospective case series of eight patients with anti-NMDA receptor encephalitis treated with ECT. We use clinical prediction scores (Clinical Assessment Scale for Autoimmune Encephalitis [CASE] and anti-NMDAR Encephalitis One-Year Functional Status scores) to compare expected outcomes and observed outcomes.</p><p><strong>Results: </strong>CASE scores in our group ranged between 5 and 19, with a mean score of 13.8 (median 15.5). NEOS scores ranged from 2 to 4, with a mean and median of 3. Of the eight patients, six had a favourable modified Rankin Score (0-2) at a follow-up of 8 to 12 months. Patients received an average of 29.9 ECT treatments in total.</p><p><strong>Conclusions: </strong>Based on clinical prediction scores, this cohort had better than expected functional outcomes. We discuss the use of BZDs and ECT in these cases and propose a treatment algorithm for patients who present with catatonic syndrome in anti-NMDA receptor encephalitis.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000812"},"PeriodicalIF":2.1,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677408","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}

{"title":"Analysis of door-to-needle time for thrombolysis in acute ischaemic stroke using statistical process control charts.","authors":"Markku Grönroos, Ville Hällberg, Mika Helminen, Teemu Koivistoinen, Ari Palomäki","doi":"10.1136/bmjno-2024-000687","DOIUrl":"10.1136/bmjno-2024-000687","url":null,"abstract":"<p><strong>Background: </strong>Thrombolysis should be administered as soon as possible to suitable patients with acute ischaemic stroke. We introduced a new protocol for patients who had a stroke to achieve reduced door-to-needle times for the best possible outcome. Since then, we have closely monitored each patient who had a stroke. Our goal was to assess whether statistical process control charts could be useful in detecting deviations in door-to-needle times when using four well-known rules applied by Western Electric (WE rules 1-4).</p><p><strong>Methods: </strong>We analysed retrospectively door-to-needle times of together 200 acute ischaemic stroke patients before and after the implementation of our new stroke protocol. In addition, 25 patients at the time of reorganisation (transition period) were analysed. Statistical process control chart rules WE 1-WE 4 were applied to detect door-to-needle deviations and to monitor process uniformity.</p><p><strong>Results: </strong>Before the implementation of the protocol, median door-to-needle time was 53 min and after the implementation 20 min. Statistical process control chart rules were triggered only once in 100 patients before the reorganisation but seven times in 25 patients during the transition period. None of the rules WE 1-4 were activated after the reorganisation, indicating the stability of the reorganised acute ischaemic stroke process.</p><p><strong>Conclusions: </strong>The use of statistical process control charts demonstrated a significant reduction in door-to-needle times during the reorganisation. Further, it showed that the acute ischaemic stroke process with a 20 min door-to-needle time is very stable.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000687"},"PeriodicalIF":2.1,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677471","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}

{"title":"Statins are rarely prescribed for incidentally discovered covert cerebrovascular disease: a retrospective cohort in a large electronic health record (EHR) identified using natural language processing.","authors":"Lester Y Leung, Eric Puttock, David F Kallmes, Patrick Luetmer, Sunyang Fu, Chengyi X Zheng, Hongfang Liu, Wansu Chen, David M Kent","doi":"10.1136/bmjno-2024-000855","DOIUrl":"10.1136/bmjno-2024-000855","url":null,"abstract":"<p><strong>Introduction: </strong>While incidentally discovered covert cerebrovascular diseases (id-CCD) are associated with future stroke, it is not known if patients with id-CCD are prescribed statins.</p><p><strong>Methods: </strong>Patients age ≥50 with id-CCD on neuroimaging from 2009 to 2019 with no prior ischaemic stroke, transient ischaemic attack or dementia were identified using natural language processing in a large real-world cohort. Robust Poisson multivariable regression was used to assess statin prescription among patients without prior statins.</p><p><strong>Results: </strong>Among 2 41 050 patients, 74 975 patients (31.1%; 4.7% with covert brain infarcts (CBI); 29.0% with white matter disease (WMD)) had id-CCD. 53.5% (95% CI 53.2 to 53.9%) were not on statins within 6 months prior to the scan. Of those, 12.0% (95% CI 11.7 to 12.3%) were prescribed statins in the next 6 months compared with 9.3% (95% CI 9.1 to 9.4%) in those without CCD, a 2.7% (95% CI 2.4 to 3.1%) absolute increase in statin prescription for those with id-CCD. In adjusted analyses, the presence of id-CCD was only associated with minor increases in statin prescription (CBI or WMD (risk ratio (RR) 1.09, 95% CI 1.05 to 1.13), CBI alone (RR 1.34, 95% CI 1.21 to 1.47), WMD alone (RR 1.05, 95% CI 1.01 to 1.09), and CBI and WMD (RR 1.23, 95% CI 1.12 to 1.35)).</p><p><strong>Discussion: </strong>Identification of id-CCD is not associated with substantial changes in statin prescription in routine clinical practice.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000855"},"PeriodicalIF":2.1,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631917","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}

{"title":"Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome secondary to dorsal pontine infarction.","authors":"Lin-Yuan Zhang, Ming Zhu, Yu Wang, Guo-Dong Wang, Yan Wang, Yun-Cheng Wu, Xiao-Ying Zhu","doi":"10.1136/bmjno-2024-000746","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000746","url":null,"abstract":"<p><strong>Background: </strong>Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) is an uncommon ocular motor disorder which is featured by binocular exotropia and bilateral internuclear ophthalmoplegia.</p><p><strong>Methods: </strong>A 71-year-old man with hypertension presented to the emergency department with sudden-onset diplopia. Neurological examination, neuroimaging, blood and cerebrospinal fluid (CSF) testing were performed.</p><p><strong>Results: </strong>We presented a typical WEBINO syndrome case with a clear dorsal pontine infarction involving bilateral medial longitudinal fasciculi (MLF) on brain MR scan. The patient's eye movement abnormalities improved and MR lesions disappeared at 60-day follow-up after treatment of clopidogrel and atorvastatin. Furthermore, we summarised the aetiology and pathophysiology of WEBINO by retrospectively analysing all published WEBINO cases. We found that WEBINO can result from various underlying pathologies, with inflammation most common in the young, and stroke most common in the elderly. Simultaneous lesions of bilateral MLF definitely contribute to the pathophysiology of WEBINO.</p><p><strong>Conclusions: </strong>This case underscores the importance of early recognising WEBINO in the emergency department. A timely diagnosis of stroke-induced WEBINO is important so that acute treatment can be considered and for initiating secondary stroke preventive measures to potentially improve the prognosis.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000746"},"PeriodicalIF":2.1,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631919","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}

{"title":"Assessing insomnia after stroke: a diagnostic validation of the Sleep Condition Indicator in self-reported stroke survivors.","authors":"Declan M McLaren, Jonathan Evans, Satu Baylan, Monika Harvey, Megan C Montgomery, Maria Gardani","doi":"10.1136/bmjno-2024-000768","DOIUrl":"10.1136/bmjno-2024-000768","url":null,"abstract":"<p><strong>Background: </strong>Insomnia is common after stroke and is associated with poorer recovery and greater risk of subsequent strokes. Yet, no insomnia measures have been validated in English-speaking individuals affected by stroke.</p><p><strong>Aims: </strong>This prospective diagnostic validation study investigated the discriminatory validity and optimal diagnostic cut-off of the Sleep Condition Indicator when screening for Diagnostic and Statistical Manual of Mental Disorders-fifth edition (DSM-5) insomnia disorder post-stroke.</p><p><strong>Methods: </strong>A convenience sample of 180 (60.0% women, mean age=49.61 ± 12.41 years) community-based, adult (≥18 years) self-reported stroke survivors completed an online questionnaire. Diagnosis of DSM-5 insomnia disorder was based on analysis of a detailed sleep history questionnaire. Statistical analyses explored discriminant validity, convergent validity, relationships with demographic and mood variables, and internal consistency. Receiver operating characteristic curves were plotted to assess diagnostic accuracy.</p><p><strong>Results: </strong>Data from the sleep history questionnaire suggested that 75 participants (41.67%) met criteria for DSM-5 insomnia disorder, 33 (18.33%) exhibited symptoms of insomnia but did not meet diagnostic criteria, and 72 (40.0%) had no insomnia symptoms at the time of assessment. The Sleep Condition Indicator (SCI) demonstrated 'excellent' diagnostic accuracy in the detection of insomnia post-stroke, with an area under the curve of 0.86 (95% CI (0.81, 0.91)). The optimal cut-off was determined as being ≤13, yielding a sensitivity of 88.0% and a specificity of 71.43%.</p><p><strong>Conclusions: </strong>The findings of this study demonstrate the SCI to be a valid and reliable method with which to diagnose DSM-5 insomnia disorder and symptoms post-stroke. However, a lower threshold than is used in the general population may be necessary after stroke.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000768"},"PeriodicalIF":2.1,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142570078","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}

{"title":"Major vascular events after first incident stroke: a population-based study.","authors":"Rayka Malek, Salha Alasiri, Charles D A Wolfe, Abdel Douiri","doi":"10.1136/bmjno-2024-000723","DOIUrl":"10.1136/bmjno-2024-000723","url":null,"abstract":"<p><strong>Background: </strong>Recent advances in stroke care have led to improvements in survival and rates of stroke recurrence. However, there is a lack of data on trends of major vascular events, and risk factors associated with non-fatal and fatal outcomes. We aim to identify demographical and clinical factors leading to incidence of subsequent major vascular events after the first-ever stroke.</p><p><strong>Methods: </strong>6051 patients' records with first-ever stroke between 1995 and 2018 in South London, UK were analysed. Semicompeting risks models were constructed to estimate factors affecting time to incidence of recurrent stroke, myocardial infarction (MI), mortality and transitions from poststroke recurrence/MI to mortality (indirect mortality). Cumulative incidence functions were plotted for each major vascular event, stratified by stroke subtypes. All models were adjusted for age, sex, socioeconomic status, comorbidities, stroke severity and stroke subtype.</p><p><strong>Results: </strong>Five years of cumulative incidences were 9.2% (95% CI (8.4% to 10.0%)) for recurrent stroke, 4.4% (95% CI 3.9% to 5.0%) for MI, and 45% (95% CI 44% to 47%) for mortality. Prior atrial fibrillation was associated with 47% increased risk of mortality (HR=1.47 (95% CI 1.23 to 1.75)) and a previous diagnosis of MI was the strongest risk factor for poststroke MI (HR=9.17 (95% CI 6.28 to 13.39)). Stroke unit was associated with a 40% lower hazard of mortality without having a recurrent stroke/MI (HR=0.60 (95% CI 0.50 to 0.72)) and a 39% lower hazard of indirect mortality (HR=0.57 (95% CI 0.37 to 0.87)).</p><p><strong>Conclusion: </strong>Major vascular events are prevalent after stroke, particularly among those with concurrent vascular conditions. The rate of stroke recurrence plateaued in the last decade, yet MI incidence increased. Targeted strategies to control risk factors are required to reduce the incidence of a second vascular event and prevent progression to mortality in these high-risk groups.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000723"},"PeriodicalIF":2.1,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569996","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}

{"title":"Development and internal validation of prehospital prediction models for identifying intracerebral haemorrhage in suspected stroke patients.","authors":"Mohammed Almubayyidh, Adrian R Parry-Jones, David A Jenkins","doi":"10.1136/bmjno-2024-000878","DOIUrl":"10.1136/bmjno-2024-000878","url":null,"abstract":"<p><strong>Introduction: </strong>Distinguishing patients with intracerebral haemorrhage (ICH) from other suspected stroke cases in the prehospital setting is crucial for determining the appropriate level of care and minimising the onset-to-treatment time, thereby potentially improving outcomes. Therefore, we developed prehospital prediction models to identify patients with ICH among suspected stroke cases.</p><p><strong>Methods: </strong>Data were obtained from the Field Administration of Stroke Therapy-Magnesium prehospital stroke trial, where paramedics evaluated multiple variables in suspected stroke cases within the first 2 hours from the last known well time. A total of 19 candidate predictors were included to minimise overfitting and were subsequently refined through the backward exclusion of non-significant predictors. We used logistic regression and eXtreme Gradient Boosting (XGBoost) models to evaluate the performance of the predictors. Model performance was assessed using the area under the receiver operating characteristic curve (AUC), confusion matrix metrics and calibration measures. Additionally, models were internally validated and corrected for optimism through bootstrapping. Furthermore, a nomogram was built to facilitate paramedics in estimating the probability of ICH.</p><p><strong>Results: </strong>We analysed 1649 suspected stroke cases, of which 373 (23%) were finally diagnosed with ICH. From the 19 candidate predictors, 9 were identified as independently associated with ICH (p<0.05). Male sex, arm weakness, worsening neurological status and high systolic blood pressure were positively associated with ICH. Conversely, a history of hyperlipidaemia, atrial fibrillation, coronary artery disease, ischaemic stroke and improving neurological status were associated with other diagnoses. Both logistic regression and XGBoost demonstrated good calibration and predictive performance, with optimism-corrected sensitivities ranging from 47% to 49%, specificities from 89% to 90% and AUCs from 0.796 to 0.801.</p><p><strong>Conclusions: </strong>Our models demonstrate good predictive performance in distinguishing patients with ICH from other diagnoses, making them potentially useful tools for prehospital ICH management.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000878"},"PeriodicalIF":2.1,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142570086","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}

{"title":"Minimising the rate of vascular complications in Deep Brain Stimulation surgery for the management of Parkinson's disease: a single-centre 600-patient case series.","authors":"Raymond Cook, Nyssa Chennell Dutton, Peter A Silburn, Linton J Meagher, George Fracchia, Nathan Anderson, Glen Cooper, Hoang-Mai Dinh, Stuart J Cook, Paul Silberstein","doi":"10.1136/bmjno-2024-000793","DOIUrl":"10.1136/bmjno-2024-000793","url":null,"abstract":"<p><strong>Objectives: </strong>Deep Brain Stimulation (DBS) is an effective, yet underused therapy for people living with Parkinson's disease (PD) in whom tremor, motor fluctuations and/or dyskinesia are not satisfactorily controlled by oral medical therapy. Fear of vascular complications related to the operative procedure remains a strong reason for both the referrer and patient reluctance. We review the incidence of vascular complications in the first 600 patients with Parkinson's disease treated at our centre by a single neurologist/neurosurgical team.</p><p><strong>Methods: </strong>Surgical data routinely collected for patients who underwent DBS implantation for the management of PD between the years 2001-2023 was retrospectively reviewed. Incidences of vascular complication were analysed in detail, examining causal factors.</p><p><strong>Results: </strong>Including reimplantations, 600 consecutive DBS patients underwent implantation with 1222 DBS electrodes. Three patients (0.50%) experienced vascular complications.</p><p><strong>Conclusion: </strong>This vascular complication rate is at the low end of that reported in the literature. Risk mitigation strategies discussed include a consistent neurosurgical team, dual methodology target and trajectory planning, control of cerebrospinal fluid egress during the procedure, use of a specialised microelectrode recording (MER)/macrostimulation electrode without an introducing brain cannula and low number of MER passes. A reduced vascular complication rate may improve the acceptability of DBS therapy for both patients and referrers.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000793"},"PeriodicalIF":2.1,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142570002","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}

{"title":"Review of theories into the pathogenesis of normal pressure hydrocephalus.","authors":"Racheed Mani, Jade Basem, Liu Yang, Susan Fiore, Petar Djuric, Michael Egnor","doi":"10.1136/bmjno-2024-000804","DOIUrl":"10.1136/bmjno-2024-000804","url":null,"abstract":"<p><p>Normal pressure hydrocephalus (NPH) represents a unique form of hydrocephalus characterised by the paradox of ventriculomegaly without significant elevations in intracranial pressure, with the clinical triad of gait instability, cognitive impairment, and urinary incontinence. A myriad of neurobiological correlates have been implicated in its pathophysiology. We review the literature to provide an up-to-date, narrative review of the proposed mechanisms underlying the pathophysiology of NPH, proposing a holistic framework through which to understand the condition. We conducted a narrative review of the literature on NPH, assessing the various mechanisms underlying its pathophysiology and clinical presentation. NPH represents a unique form of hydrocephalus manifesting as a disorder of the cerebral vasculature, characterised by arteriosclerosis and reduced intracranial elastance. There are multiple mechanisms underlying its pathophysiology, which include windkessel impairment causing redistribution of intracranial pulsatility from the subarachnoid space to the ventricles, reductions in cerebral blood flow, impaired glymphatic clearance, reduced blood-brain barrier integrity and alterations in venous haemodynamics. Moreover, NPH shares similar clinical features and pathological mechanisms as other neurodegenerative conditions such as Alzheimer's disease and vascular dementia. The severity of each respective mechanism of pathophysiology can lead a patient to develop one condition versus another. Analysing NPH as a disorder of the cerebral vasculature, glymphatics, and most of all, the distribution of intracranial pulsatility, provides a novel framework through which to understand and manage this condition, one which requires further investigation.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"6 2","pages":"e000804"},"PeriodicalIF":2.1,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11487818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480534","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}