Neurology. Clinical practice最新文献

{"title":"Cenobamate Monotherapy for Focal Epilepsy: A Single-Center Retrospective Study.","authors":"Erkam Zengin, Ferhat Erol, Andrea Gil Guevara, Fred Alexander Lado","doi":"10.1212/CPJ.0000000000200460","DOIUrl":"10.1212/CPJ.0000000000200460","url":null,"abstract":"<p><strong>Background and objectives: </strong>Cenobamate is a novel antiseizure medication (ASM) approved by the Food and Drug Administration for use as adjunctive therapy in focal epilepsy. However, there are limited data on its use as a standalone monotherapy. The aim of our study was to investigate the use of cenobamate monotherapy and evaluate its clinical efficacy and safety in treating focal epilepsy.</p><p><strong>Methods: </strong>This single-center retrospective study was conducted on patients who were transitioned to cenobamate monotherapy for more than 6 months at a daily dosage of at least 150 mg. The cohort comprised patients transitioned from monotherapy and those previously on polytherapy with ASMs. Efficacy was based on the seizure freedom and seizure frequency reduction rates between pretreatment and post-treatment with cenobamate while safety was estimated by the reported adverse events.</p><p><strong>Results: </strong>A total of 527 patients were found to use cenobamate as part of their treatment regimen; 45 patients (9%) were transitioned to cenobamate monotherapy and met our predefined criteria. The median follow-up was 14.6 months. Before treatment with cenobamate, 56% were taking one ASM, 33% two ASMs, and 9% three ASMs. The median dose for cenobamate was 250 mg. The mean seizure frequency on cenobamate was reduced from 4.3 to 0.7 per month; the responder rate (50% reduction in seizure frequency) was achieved at 77%, and 55% of the patients remained seizure-free during the 12-month observation period.</p><p><strong>Discussion: </strong>Cenobamate monotherapy was found to significantly reduce seizure frequency and achieve high seizure freedom rates and was well tolerated in patients with focal epilepsy, highlighting its promise as an emerging alternative for patients with refractory focal epilepsy.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200460"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795825","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":"Multicenter Improvement in Screening for Dystonia in Young People With Cerebral Palsy.","authors":"Bhooma Rajagopalan Aravamuthan, Emma J Lott, Esra Pehlivan, Keerthana Chintalapati, Deborah Grenard, Desiree Roge, Rose Gelineau-Morel, Dante Kyle, Christie Becu, Michael C Kruer, Linn Katus, Paul Gross, Amy Bailes","doi":"10.1212/CPJ.0000000000200469","DOIUrl":"10.1212/CPJ.0000000000200469","url":null,"abstract":"<p><strong>Background and objectives: </strong>Dystonia is a common, debilitating, and often treatment-refractory motor symptom of cerebral palsy (CP), affecting 70%-80% of this population based on research assessments. However, routine clinical evaluation for dystonia in CP has failed to match these expected numbers. Addressing this diagnostic gap is a medical imperative because the presence of dystonia rules in or out certain treatments for motor symptoms in CP. Therefore, our objective was to optimize rates of clinical dystonia screening to improve rates of clinical dystonia diagnosis.</p><p><strong>Methods: </strong>Using the quality improvement (QI) infrastructure of the Cerebral Palsy Research Network (CPRN), we developed and implemented interventions to increase the documentation percentage of 5 features of dystonia in young people with CP, aged 3-21 years. This QI initiative was implemented by 7 physiatry and pediatric movement disorders physicians at 4 tertiary-care pediatric hospitals between October 10, 2021, and July 1, 2023. Using a prospective cohort study design, we collected visit data across all participating sites every 2 weeks and tracked our progress using control charts.</p><p><strong>Results: </strong>We assessed 847 unique visits, mostly for established patients (719/847, 85%) who were 9.2 years old on average (95% CI 8.8-9.5). By April 10, 2022, the mean percentage of dystonia screening elements documented across all sites increased from 39% to 90% and the mean percentage of visits explicitly documenting the presence or absence of dystonia increased from 65% to 94%. By October 23, 2022, the percentage of visits diagnosing dystonia increased from 57% to 74%. These increases were all sustained through the end of the study period on July 1, 2023.</p><p><strong>Discussion: </strong>Using a rigorous QI-driven process across 4 member sites of a North American learning health network (CPRN), we demonstrated that we could increase screening for dystonia and that this was associated with increased clinical dystonia diagnosis, matching expected research-based rates. We propose that similar screening should take place across all sites caring for people with CP.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200469"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12021022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005990","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":"Gross Motor Function in Individuals With SCN2A-Related Disorders: The Clinical Trial Readiness Study.","authors":"Anne T Berg, Aaron J Kaat, Katherine Paltell, Ariela J E Kaiser, Amanda Nili, Lindsey Evans, Erica L Anderson, Gerry Nesbitt, Leah S Myers","doi":"10.1212/CPJ.0000000000200479","DOIUrl":"10.1212/CPJ.0000000000200479","url":null,"abstract":"<p><strong>Background and objectives: </strong>SCN2A-related disorders (RDs) are genetic conditions characterized by severe to profound impairments in multiple domains including gross motor function, which could serve as a nonseizure outcome in precision medicine therapy trials. This study evaluated specific properties of the Vineland Adaptive Behavior Scales-3 (VABS3) and other motor assessments for their fitness for use in trials of SCN2A-RDs.</p><p><strong>Methods: </strong>Sixty-five families recruited through the FamileSCN2A foundation enrolled their affected children (\"participants,\" 28 female, median age 6.4 years, interquartile range [IQR] 4.1-10.5) in a 1-year, longitudinal study. Assessments were administered at 0 (study entry), 6, and 12 months. Assessments included the VABS3, Adaptive Behavior Assessment System 0-5 years (ABAS), a modified Functional Mobility Scale (FMS), and the Functional Activities Questionnaire-Walking Level (FAQ-WL).</p><p><strong>Results: </strong>The VABS3 composite score (34 [IQR 26-46]) indicated overall adaptive function >4 SDs below the normative mean. Forty percent of participants aged 2 years or older required wheelchairs for home distances, and 28% could not take any steps. The median standardized scores (SSs) for the VABS3 motor domain (20 [IQR 20-32]) and gross motor subdomain (1 [IQR 1-2]) reflected performance at the floor of the measures. Standardized motor scores discriminated poorly among participants with different levels of mobility (FAQ-WL and FMS) and different markers of diseases severity (presence of epilepsy, history of epileptic spasms, number of seizure medications). Cross-sectionally, SSs declined with increasing age. By contrast, raw scores of the VABS3 and ABAS and growth scale values (GSVs) of the VABS3 had relatively little floor effects. They distinguished well between participants based on FAQ-WL and FMS scores and between those with different disease severity markers. Test-retest and inter-rater reliability for all scores were excellent. No motor score changed significantly over time in the longitudinal analyses.</p><p><strong>Discussion: </strong>Gross motor function in people with SCN2A-RDs is so severely impaired that it cannot be adequately measured with norm-referenced (standardized) scores. GSVs and alternative scoring assessments used out of their intended age range have superior and promising psychometric features in this severely impaired group, and they should be considered in future precision medicine trials for SCN2A-RDs and other similarly severe, rare disorders.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200479"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036682","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":"Assessment of Seizure Action Plans in Pediatric Convulsive Status Epilepticus: Focus on Benzodiazepine-Responsive and Resistant Cases.","authors":"Coral M Stredny, Sahar Rostamian, Theodore Alexander Sheehan, Marina Gaínza-Lein, Shannon Carey, Samuel Lewis, Justice Clark, Bethany Bucciarelli, Madeline Chiujdea, Annalee Antonetty, Bo Zhang, Luisa Fernanda Atunes Ortega, Lillian Voke, Tobias Loddenkemper","doi":"10.1212/CPJ.0000000000200449","DOIUrl":"10.1212/CPJ.0000000000200449","url":null,"abstract":"<p><strong>Background and objectives: </strong>Optimal acute treatment is crucial in pediatric convulsive status epilepticus (CSE). However, data on the benefits of seizure action plans (SAPs) and treatment algorithm implementation in relation to process and outcome measures in CSE are scarce. Our study examines treatment algorithm adherence in benzodiazepine (BZD)-responsive and BZD-resistant groups and specifically focuses on the relationship with personalized SAPs.</p><p><strong>Methods: </strong>We performed a prospective observational cohort study evaluating patient care processes and outcomes in young patients with CSE lasting ≥5 minutes, requiring admission and an antiseizure medication(s) (ASM) for seizure termination from February 2016 to July 2018. Patients with infantile spasms, invasive EEG monitoring, unclear seizure duration, unclear ASM administration time, or seizure cluster were excluded. We used univariate statistics to analyze the data.</p><p><strong>Results: </strong>We enrolled 60 patients (median age 3.7 [1.9-7.0] years, 48% female), including 34 BZD-responsive and 26 BZD-resistant patients. Patients who had access to a personalized SAP, even if it was not adhered to, experienced a median (p25-p75) time to first ASM of 6 minutes (5-18; n = 34). By contrast, patients without access to a personalized SAP had a longer median (p25-p75) time to the first ASM of 15 minutes (8-27; n = 24; <i>p</i> < 0.05). The median (p25-p75) time to administer the first ASM was 6 (5-15; n = 33) minutes in BZD-responsive patients vs 15 (6-32; n = 25; <i>p</i> < 0.05) minutes in BZD-resistant patients. Treatment protocol implementation rates were lower in BZD-resistant vs BZD-responsive patients. The median (p25-p75) time to administer the first ASM was 5 minutes (4-5; n = 14) in patients who implemented a personalized SAP compared with 16 minutes (6-31; n = 20; <i>p</i> < 0.001) in patients without SAP implementation. The median (p25-p75) seizure duration in personalized SAP implementation and nonimplementation groups was 9 (6-16; n = 14) and 22 (11-64; n = 20; <i>p</i> < 0.01) minutes, respectively. The intubation rate was 14% for those who implemented the personalized SAP and 53% for those who did not (<i>p</i> < 0.05).</p><p><strong>Discussion: </strong>Seizure duration was shorter in patients with personalized SAP, and the time to administer ASM was faster. In addition, BZD-resistant patients were less likely to follow treatment protocols, and the time to first-line therapy was slower. SAP and algorithm implementation was associated with a lower intubation rate, indicating potential benefits, including improved process and patient outcome measures.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200449"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795820","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":"Role of Central Sensitization Syndrome in Patients With Autonomic Symptoms.","authors":"Peter Novak, Sadie P Marciano, Aleandra Witte","doi":"10.1212/CPJ.0000000000200463","DOIUrl":"10.1212/CPJ.0000000000200463","url":null,"abstract":"<p><strong>Background and objectives: </strong>Idiosyncratic autonomic-like symptomatology, e.g., when objective autonomic tests cannot fully explain autonomic concerns, is poorly understood. We hypothesize that central sensitization plays a role in the autonomic symptoms-sings dichotomy.</p><p><strong>Methods: </strong>This retrospective case-control study was conducted at Brigham and Women's Faulkner Hospital Autonomic Laboratory between 2022 and 2023 and analyzed patients who completed autonomic testing that included surveys (Central Sensitization Inventory [assessing central sensitization syndrome {CSS}], Compass-31 [assessing autonomic symptoms], Neuropathy Total Symptom Score-6 [assessing sensory symptoms]) and autonomic (Valsalva maneuver, deep breathing, sudomotor evaluation, and head-up tilt), cerebrovascular (cerebral blood flow velocity [CBFv]), respiratory (capnography), and neuropathic (skin biopsies for assessment of small fiber neuropathy) testing.</p><p><strong>Results: </strong>In total, 555 patients were enrolled and 455 (78%) satisfied criteria for CSS. Patients with CSS were younger and more frequently female and had longer duration of symptoms, more comorbidities, and higher Compass-31 scores and NTSS-6 compared with non-CSS patients. Autonomic testing showed lower orthostatic end-tidal CO₂ (<i>p</i> = 0.002) and larger orthostatic decline in CBFv (<i>p</i> < 0.001) in the CSS group. There was no difference in the peripheral nervous system markers (sudomotor tests and skin biopsies). The frequency of moderate autonomic failure (AF) (91.4% vs 95%, <i>p</i> = 0.321) was similar between the groups, but the CSS group had lower AF score (4.21 ± 3.34 vs 5.23 ± 4.08, <i>p</i> < 0.021).</p><p><strong>Discussion: </strong>CSS is present in most patients with chronic autonomic concerns. Central sensitization amplifies autonomic symptoms presumably through perturbed interoceptive processing and can be an underlying mechanism driving idiosyncratic autonomic-like symptomatology. Patients with CSS had objective evidence of autonomic impairment; however, it was less severe than in non-CSS patients. Our study shows that CSS and AF coexist and both conditions need to be treated.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200463"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795847","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":"FACE DROPS: A Clinical Risk Assessment Tool for Differentiation of Acute Lyme Disease-Associated Facial Palsy From Bell Palsy.","authors":"Caleb R S McEntire, Sun Young Chung, Brian Chang, Keisha Judith Barrera, Yan Zhao, Joshua W Joseph, Gary P Wormser, Nate Jowett, Bart K Chwalisz","doi":"10.1212/CPJ.0000000000200476","DOIUrl":"10.1212/CPJ.0000000000200476","url":null,"abstract":"<p><strong>Background and objectives: </strong>Facial palsy is a common manifestation of Lyme disease, accounting for up to 5% of acute facial palsies in endemic regions. Lyme disease-associated facial palsy (LDFP) warrants prompt antibiotic therapy while corticosteroid therapy is indicated for Bell palsy. The role of adjuvant corticosteroids in the treatment of acute LDFP is unclear. Current limitations of diagnostic laboratory tests for Lyme disease render acute differentiation of LDFP and BP challenging in many cases.</p><p><strong>Methods: </strong>We reviewed records from 285 patients with LDFP (N = 76) and BP (N = 209) referred to a specialized facial nerve center from 2005 to 2021 to determine clinical characteristics at time of presentation to medical care. We developed and internally validated a clinical risk assessment tool (\"FACE DROPS\") based on pertinent differences between signs and symptoms of LDFP and BP at presentation.</p><p><strong>Results: </strong>The risk assessment tool distinguishes LDFP from BP using 7 clinical criteria: fever (+8 to FACE DROPS score), aches (arthralgia/myalgia; +6), cephalalgia (headache; +3), exhaustion (unusual fatigue; +4), dermatomal or radicular pattern (transverse myelitis or radiculitis; +4), otalgia or postauricular pain (-1), and stiff neck (nuchal rigidity; +3). FACE DROPS scores ≤4 predicted BP with ≥93.5% accuracy while scores of ≥7 predicted LDFP with ≥96.0% accuracy.</p><p><strong>Discussion: </strong>A novel risk assessment tool to distinguish LDFP from BP was developed. This tool may help guide the prescribing of antimicrobials for Lyme disease in the setting of acute facial palsy pending confirmatory laboratory evidence in the absence of an erythema migrans skin lesion.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200476"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12021021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972569","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":"Biomarker-Driven Diagnosis in Neurocognitive Disorders: A Clinician's Perspective on the Risks of Reductionism.","authors":"Verónica Alheia Cabreira, Jeremy D Isaacs","doi":"10.1212/CPJ.0000000000200481","DOIUrl":"10.1212/CPJ.0000000000200481","url":null,"abstract":"<p><p>The recently published Alzheimer's Association Workgroup diagnostic criteria for Alzheimer disease and consensus-based workflows for the use of diagnostic biomarkers in neurocognitive disorders promote further normalization of purely biological approaches to neurocognitive disorders. In this commentary, we reflect on the dangers of biological reductionist positions lacking solid scientific evidence and proven cost-effectiveness benefits, in particular its inability to offer a meaningful formulation for the large number of people with functional cognitive disorders. This, alongside the current lack of standardization, limited accuracy, and environmental consequences, means that the normalization of biomarkers as standard-of-care tests in all neurocognitive presentations does not represent responsible innovation. We emphasize the need for pluralism when considering technological developments, such that clinical judgment and biopsychosocial formulation continue to be accepted as a sound foundation for cognitive assessment.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200481"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033846","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":"Cost Utility of Specialist Physiotherapy for Functional Motor Disorder (Physio4FMD): Economic Analysis of a Pragmatic Randomized Controlled Trial.","authors":"Rachael Maree Hunter, Glenn Nielsen, Marie Le Novere, Louise Marston, Teresa C Lee, Jon Stone, Laura H Goldstein, Alan Carson, Kate Holt, Jonathan Marsden, Irwin Nazareth, Hayley Noble, Markus Reuber, Ann-Marie Strudwick, Beatriz Santana Suarez, Mark J Edwards","doi":"10.1212/CPJ.0000000000200465","DOIUrl":"10.1212/CPJ.0000000000200465","url":null,"abstract":"<p><strong>Background and objectives: </strong>Functional motor disorder (FMD), a motor-dominant variant of functional neurologic disorder, is a disabling condition associated with high health and social care resource use and poor employment outcomes. Specialist physiotherapy presents a possible treatment option, but there is limited evidence for clinical effectiveness and cost-effectiveness. Physio4FMD is a multicenter randomized controlled trial of specialist physiotherapy for FMD compared with treatment as usual (TAU). The aim of the analysis was to conduct a randomized trial based on economic evaluation of specialist physiotherapy compared with TAU.</p><p><strong>Methods: </strong>Eleven centers in England and Scotland randomized participants 1:1 to specialist physiotherapy or TAU (referral to community neurologic physiotherapy). Participants completed the EuroQoL EQ-5D-5L, Client Service Receipt Inventory, and Work Productivity and Activity Impairment Questionnaire at baseline, 6 months, and 12 months. The mean incremental cost per quality-adjusted life year (QALY) for specialist physiotherapy compared with TAU over 12 months was calculated from a health and social care and wider societal perspective. The probability of cost-effectiveness and 95% CIs were calculated using bootstrapping.</p><p><strong>Results: </strong>The analysis included 247 participants (n = 141 for specialist physiotherapy, n = 106 for TAU). The mean cost per participant for specialist physiotherapy was £646 (SD 72) compared with £272 (SD 374) for TAU. Including the costs of treatment, the adjusted mean health and social care cost per participant at 12 months for specialist physiotherapy was £3,814 (95% CI £3,194-£4,433) compared with £3,670 (95% CI £2,931-£4,410) for TAU, with a mean incremental cost of £143 (95% CI £-825 to £1,112). There was no significant difference in QALYs over the 12-month duration of the trial (0.030, 95% CI -0.007 to 0.067). The mean incremental cost per QALY was £4,133 with an 86% probability of being cost-effective at a £20,000 threshold. When broader societal costs such as loss of productivity were taken into consideration, specialist physiotherapy was dominant (incremental cost: £-5,169, 95% CI £-15,394 to £5,056).</p><p><strong>Discussion: </strong>FMD was associated with high health and social care costs. There is a high probability that specialist physiotherapy is cost-effective compared with TAU particularly when wider societal costs are taken into account.</p><p><strong>Trial registration information: </strong>International Standard Randomised Controlled Trial registry, ISRCTN56136713.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200465"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795839","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":"Seizures in Cerebral Amyloid Angiopathy: A Systematic Review and Meta-Analysis.","authors":"Brin E Freund, Md Manjurul Islam Shourav, Anteneh M Feyissa, James F Meschia, Amen Yonas, Kevin M Barrett, William O Tatum, Michelle P Lin","doi":"10.1212/CPJ.0000000000200454","DOIUrl":"10.1212/CPJ.0000000000200454","url":null,"abstract":"<p><strong>Purpose of review: </strong>Cerebral amyloid angiopathy (CAA) is a disease of the cerebral vasculature that can result in microhemorrhages, as well as intraparenchymal and subarachnoid hemorrhage, superficial siderosis (SS), and/or secondary infarct/inflammation. CAA may be encountered as an isolated pathology or with Alzheimer disease and has been demonstrated to be associated with an increased risk of seizures. However, the overall rates of seizures and specific pathologies related to CAA and their subsequent risk of seizures have not been elucidated.</p><p><strong>Recent findings: </strong>Prior studies of CAA and seizures are predominantly case reports or small case series, and larger studies have focused primarily on smaller subgroups of patients with CAA. Only 2 prior studies assessed larger heterogeneous populations of patients with CAA. One study focused on long-term outcomes and evaluated the impact of seizures on cognitive and survival outcomes retrospectively, although it did not delineate the effects of acute and chronic seizure disorders (epilepsy) and did not find an association. Long-term prospective or retrospective studies on outcomes regarding seizures/epilepsy and CAA are therefore lacking.</p><p><strong>Summary: </strong>A total of 1,376 articles were identified, with 48 (34 case reports/series and 14 cohort studies) included in this review. Acute symptomatic seizures (ASyS) and epilepsy were poorly defined, and the overall prevalence of seizures in cohort studies was 22.8%, with significant heterogeneity (<i>I</i> ² = 77%; <i>p</i> < 0.01). Epilepsy was diagnosed in 34.4% and ASyS in 10.6% of patients in heterogeneous cohorts. Most of the studies assessed seizures in specific subgroups of CAA with variable prevalence, including CAA with related inflammation (CAA-ri): 56.9%; lobar intracranial hemorrhage (ICH): 17.1%; and cortical SAH (cSAH) or SS: 8.7%. In heterogeneous cohorts, SS (<i>p</i> < 0.001 and <i>p</i> = 0.03, respectively) and CAA-ri (<i>p</i> = 0.005 and <i>p</i> = 0.04, respectively) were significantly associated with epilepsy/seizures. In 1 study, cSAH (<i>p</i> = 0.03) and acute lobar ICH (<i>p</i> = 0.002) were associated with seizures, likely related to inclusion of ASyS. Status epilepticus (14/125) and drug resistance (6/89) were infrequent. Clinical pathologic entities associated with a risk of seizures include cSAH, CAA-ri, SS, and acute ICH.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200454"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753700","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":"Characteristics and Motivations of People With Amyotrophic Lateral Sclerosis Who Pursue Medical Aid in Dying in California.","authors":"Carolyn F Rennels, Laura Rosow, Steven Pantilat, Brieze K Bell, Catherine Lomen-Hoerth, Eve Cohen, Kara E Bischoff","doi":"10.1212/CPJ.0000000000200478","DOIUrl":"10.1212/CPJ.0000000000200478","url":null,"abstract":"<p><strong>Background and objectives: </strong>People with amyotrophic lateral sclerosis (ALS) disproportionately pursue medical aid in dying (MAID). We described characteristics and motivations of patients with ALS who sought MAID in California.</p><p><strong>Methods: </strong>This is a retrospective cohort study of patients followed in the ALS and Palliative Care clinics at the University of California, San Francisco, between September 2017 and October 2023 who obtained a MAID prescription under California's End of Life Option Act. We abstracted demographic and clinical information from the electronic health record. We reviewed clinician notes to gather salient themes regarding patients' motivations for MAID and calculated the frequencies of motivations reported by prescribing physicians on standardized forms.</p><p><strong>Results: </strong>Thirty-seven patients obtained a MAID prescription. The median age at first documented inquiry about MAID was 64.0 years, 51.4% identified as women, 83.8% were White, and 10.8% had Medicaid. All spoke English and had a care partner. Most (70.3%) had limb-onset ALS. The median ALS Functional Rating Scale-Revised score was 28.5/48 and the median forced vital capacity was 41.5% at time of first inquiry about MAID. Most patients (70.3%) inquired about MAID during their first visit with palliative care. Physicians wrote MAID prescriptions at a median of 76 days after first inquiry. Most patients (73.0%) took MAID medications to end their lives, at a median of 39.5 days after the prescription was written.Clinician notes revealed that patients were commonly motivated to pursue MAID by concerns about current and future suffering, loss of autonomy and enjoyable activities, and desire for control at the end of life. On standardized forms completed after patients died, physicians documented that \"persistent and uncontrollable pain and suffering\" was a less common reason that patients pursued MAID.</p><p><strong>Discussion: </strong>Patients with ALS who requested MAID were largely White and English speaking. Most patients inquired about MAID when they had moderate-stage ALS and were early in their course of palliative care. Motivations for pursuing MAID often involved the accumulated losses characterizing ALS and worries about the future. Future studies should incorporate diverse patient voices, explore barriers to accessing MAID, and consider whether any interventions can ameliorate issues driving requests for MAID in people with ALS.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"15 3","pages":"e200478"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045662","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}