Anthony N. Baumann , Robert J. Trager , Dalton McGlamery , Shahabeddin Yazdanpanah , Keegan T. Conry , Gordon Preston , Jacob C. Hoffmann
{"title":"Comparative safety and health service utilization for gabapentin versus non-steroidal anti-inflammatory drugs for cervical radiculopathy: A retrospective cohort study of academic centers","authors":"Anthony N. Baumann , Robert J. Trager , Dalton McGlamery , Shahabeddin Yazdanpanah , Keegan T. Conry , Gordon Preston , Jacob C. Hoffmann","doi":"10.1016/j.jocn.2026.111896","DOIUrl":"10.1016/j.jocn.2026.111896","url":null,"abstract":"<div><h3>Background</h3><div>Off-label use of gabapentin for neuropathic pain conditions such as cervical radiculopathy (CR) remains controversial due to limited evidence of benefit and safety concerns (e.g., opioid co-prescription, adverse drug events [ADEs], dizziness, and hospitalization risk), necessitating further research. This study explores safety risks and health service utilization in adults with newly diagnosed CR, comparing gabapentin to nonsteroidal anti-inflammatory drugs (NSAIDs) to inform clinical practice.</div></div><div><h3>Methods</h3><div>This retrospective propensity-matched cohort study using the TriNetX database included opioid-naïve adults (≥18 years) with newly-diagnosed CR without history of spinal surgery, spinal neoplasms, myelopathy, opioid-use disorder or cervical injection. Patients were divided into gabapentin or NSAID cohorts based on prescription at CR diagnosis, and matched for demographics, prescriptions, and comorbidities. Outcomes included incidence and risk ratios (RRs) of safety and health service utilization markers assessed through one year. Significance was evaluated at P < 0.0036 (Bonferroni-corrected).</div></div><div><h3>Results</h3><div>After matching, there were 23,379 patients (mean age: 53 years; 57% female) per cohort. About 14% of patients per cohort were co-prescribed opioids at CR diagnosis. Compared to the NSAID cohort, the gabapentin cohort had a statistically significant (P < 0.0036) increased risk of posterior cervical fusion (RR: 3.23), opioid-related disorder (RR: 2.87), cervical corticosteroid injection (RR: 2.52), opioid-related ADEs (RR: 2.32), anterior cervical discectomy and fusion (RR: 2.10), acute respiratory failure (RR: 1.80), cervical spine magnetic resonance imaging (RR: 1.43), inpatient visits (RR: 1.38), oral opioid prescription (RR: 1.34), and cervical spine radiographic imaging (RR: 1.21). Risk of dizziness, falls, somnolence, and emergency department visits was not significantly increased (P > 0.0036).</div></div><div><h3>Conclusion</h3><div>Gabapentin prescription for newly-diagnosed CR in adults was associated with increases in opioid prescription, adverse safety events, and health service utilization compared to NSAIDs, corroborating its lack of guideline recommendation for CR. No outcome favored gabapentin over NSAIDs. Gabapentin was occasionally co-prescribed with opioids at CR diagnosis, raising concerns.</div><div><em>Level of Evidence:</em> Level IV.</div></div>","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"146 ","pages":"Article 111896"},"PeriodicalIF":1.8,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146076234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tiago Pedro , Carolina Silva , Pedro Simão , Osvaldo Sousa , Vasco Carvalho , Patrícia Polónia , António Vilarinho , Pedro Alberto Silva , Maria Luís Silva , Luís Albuquerque
{"title":"To treat or not to treat? An inverse probability weighting analysis of intracranial aneurysms with inconclusive UIATS scores","authors":"Tiago Pedro , Carolina Silva , Pedro Simão , Osvaldo Sousa , Vasco Carvalho , Patrícia Polónia , António Vilarinho , Pedro Alberto Silva , Maria Luís Silva , Luís Albuquerque","doi":"10.1016/j.jocn.2026.111865","DOIUrl":"10.1016/j.jocn.2026.111865","url":null,"abstract":"<div><h3>Introduction</h3><div>Management of unruptured intracranial aneurysms (UIAs) is challenging when the Unruptured Intracranial Aneurysm Treatment Score (UIATS) is inconclusive, leaving patients in a therapeutic “gray zone”. This study compared one-year outcomes between conservative and interventional management in patients with UIAs and inconclusive UIATS scores.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed 149 adults with angiographically confirmed saccular UIAs and inconclusive UIATS scores treated at a tertiary center (2018–2024). Patients were stratified by management strategy: conservative (68 patients) or interventional (81 patients, endovascular or surgical). Inverse probability of treatment weighting (IPTW) was applied to balance baseline covariates. One-year outcomes included aneurysm rupture, procedural complications, ischemic and hemorrhagic events, retreatment, and functional status (mRS).</div></div><div><h3>Results</h3><div>After IPTW, the weighted pseudo-population comprised 125 patients managed conservatively and 143 treated. Intervention was associated with better functional outcomes (aOR 2.526, 95 % CI 1.075–5.935, p = 0.033) versus conservative management. Among patients managed conservatively, the aneurysm rupture rate was 4.0 %.</div></div><div><h3>Conclusions</h3><div>Active treatment in patients with unruptured intracranial aneurysms and inconclusive UIATS guidance yielded better functional results at one year, highlighting the need to improve current decision strategies through broader future research.</div></div><div><h3>Key messages</h3><div><strong>What is already known on this topic:</strong> Management of unruptured intracranial aneurysms is uncertain when the Unruptured Intracranial Aneurysm Treatment Score (UIATS) is inconclusive, leaving clinicians without clear guidance. Evidence directly comparing conservative and interventional strategies in this subgroup is limited.</div><div><strong>What this study adds:</strong> In patients with inconclusive UIATS recommendations, interventional management was associated with better one-year functional outcomes compared with conservative care.</div><div><strong>How this study might affect research, practice or policy:</strong> These findings support consideration of active treatment even when UIATS is indeterminate, emphasizing individualized, multidisciplinary decision-making.</div></div>","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"145 ","pages":"Article 111865"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ibrahim Khalil , Sajjad Ghanim Al-Badri , Md.Imran Hossain , Mahmuda Akter , Lota Halder , Sunjida Amin Promi , Md Abu Sayed , Arindam Das Joy
{"title":"Epidemiological trends and sex-specific disparities in stroke incidence, prevalence, years lived with disability (YLDs), and years of life lost (YLLs) across the African Union: insights from the Global Burden of Disease Study (1990–2023)","authors":"Ibrahim Khalil , Sajjad Ghanim Al-Badri , Md.Imran Hossain , Mahmuda Akter , Lota Halder , Sunjida Amin Promi , Md Abu Sayed , Arindam Das Joy","doi":"10.1016/j.jocn.2025.111828","DOIUrl":"10.1016/j.jocn.2025.111828","url":null,"abstract":"<div><h3>Background</h3><div>Stroke imposes a substantial burden in the Africa, amplified by epidemiological transitions and limited healthcare resources. Despite global declines, sex-specific trends in incidence, prevalence, years lived with disability (YLDs), and years of life lost (YLLs) remain underexplored. This study analyzes temporal patterns in stroke burden and subtypes (ischemic stroke, intracerebral hemorrhage, subarachnoid hemorrhage) across the African Union and regions from 1990 to 2023 using Global Burden of Disease (GBD) 2023 data.</div></div><div><h3>Methods</h3><div>Data were extracted from GBD 2023, providing age-standardized rates (ASRs) for incidence, prevalence, YLDs, and YLLs, stratified by sex and region (Central, Eastern, Northern, Southern, Western Africa). Temporal trends were quantified using estimated annual percentage changes (EAPCs) with 95% confidence intervals (CIs).</div></div><div><h3>Results</h3><div>Overall stroke incidence declined (EAPC −0.920; 95% CI −1.028 to −0.811), with females (−1.055; 95% CI −1.168 to −0.943) outperforming males (−0.779; 95% CI −0.883 to −0.675). Intracerebral hemorrhage incidence dropped sharply (−1.719; 95% CI −1.863 to −1.575), ischemic modestly (−0.448; 95% CI −0.548 to −0.349), and subarachnoid modestly (−0.541; 95% CI −0.605 to −0.476). Prevalence declined (−0.365; 95% CI −0.400 to −0.330), with female advantage (−0.478 vs. −0.254). YLDs decreased (−0.352; 95% CI −0.387 to −0.318), with females leading (−0.478 vs. −0.223). YLLs declined robustly (−1.059; −95% CI 1.122 to −0.996), with minimal sex difference. Northern Africa showed steepest declines (incidence EAPC −1.200; YLLs −1.989), while Southern and Central exhibited shallower trends or increases in subarachnoid subtypes.</div></div><div><h3>Conclusions</h3><div>The African Union’s stroke burden shows modest declines, offset by regional inequities and sex disparities favoring females. Targeted interventions addressing modifiable risks and disparities are essential for equitable patient care.</div></div>","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"145 ","pages":"Article 111828"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145882396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Meningitis secondary to clival communication with the sphenoid sinus","authors":"Kyle Bennett , Yi Chen Zhao , James King","doi":"10.1016/j.jocn.2026.111862","DOIUrl":"10.1016/j.jocn.2026.111862","url":null,"abstract":"","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"145 ","pages":"Article 111862"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Leyla Salimli Mirzayeva , Murat Uçar , Emetullah Cindil , Sümeyye Nur Budak , Pelin Kuzucu
{"title":"Characterization of additional MRI findings in patients with Chiari spectrum disorders: focus on Chiari 0–1.5 subtypes","authors":"Leyla Salimli Mirzayeva , Murat Uçar , Emetullah Cindil , Sümeyye Nur Budak , Pelin Kuzucu","doi":"10.1016/j.jocn.2026.111858","DOIUrl":"10.1016/j.jocn.2026.111858","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the prevalence, distribution, and clinical significance of additional MRI findings in Chiari types 0–1.5 and their association with Chiari subtypes.</div></div><div><h3>Methods</h3><div>In this study, 147 patients who underwent comprehensive brain and whole-spine MRI for suspected Chiari deformity were categorized as Chiari 0, 0.5, 1, or 1.5 based on tonsillar descent and obex localization. Imaging review included assessment of syringomyelia (location, diameter, length, number), conus level, lumbosacral transitional vertebrae (LSTV), partial empty sella (PES), basilar invagination, block vertebrae, and hydrocephalus.</div></div><div><h3>Results</h3><div>Subtype distribution was Chiari 0 (16.3 %), 0.5 (6.8 %), 1 (40.1 %), and 1.5 (36.7 %). Syrinx morphology did not differ significantly among subtypes. A subforaminal obex was associated with higher syrinx prevalence (p = 0.04), whereas LSTV was more common when the obex was at or above the foramen magnum (p = 0.003). Additional findings included PES (13.6 %), basilar invagination (10.8 %), block vertebra (2.7 %), and paraspinal lipoma (0.7 %). PES was enriched in Chiari 1 (p = 0.02), and basilar invagination was enriched in Chiari 1.5 (p = 0.02). Syringomyelia occurred in 30.6 % overall and was positively correlated with hydrocephalus (5.4 % overall; p = 0.01; r = 0.23).</div></div><div><h3>Conclusions</h3><div>Additional craniospinal anomalies show subtype-specific patterns within the Chiari 0–1.5 spectrum: LSTV associates with a normal/high obex, PES with Chiari 1, and basilar invagination with Chiari 1.5. A significant syringomyelia–hydrocephalus association supports shared CSF dynamic disturbances. It is also thought that case-specific practices, such as hormonal screening in Chiari cases presenting with PES and dynamic flexion–extension screenings in Chiari 1.5 cases with basilar invagination, improve disease management.</div></div>","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"145 ","pages":"Article 111858"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145922583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinical outcomes of microvascular clipping compared to endovascular coiling for ruptured anterior communicating artery aneurysms","authors":"Jake Nowicki , Edoardo Aromataris","doi":"10.1016/j.jocn.2025.111821","DOIUrl":"10.1016/j.jocn.2025.111821","url":null,"abstract":"<div><h3>Background</h3><div>A ruptured intracranial aneurysm is a devastating pathology that is associated with significant morbidity and mortality. The anterior communicating artery (ACOM) is the most common location to have an intracranial aneurysm form and rupture. The two management options for ruptured intracranial aneurysms include microsurgical clipping and endovascular coiling. The clinical outcomes of microsurgical clipping and endovascular coiling for ruptured ACOM aneurysms remains unclear. The aim of this review was to investigate the clinical outcomes, including functional outcomes, treatment efficacy and safety of microsurgical clipping and endovascular coiling for the management of ruptured ACOM aneurysms.</div></div><div><h3>Methods</h3><div>A search for published and unpublished literature included PubMed, Embase, Scopus, Cochrane Central Register of Controlled Trials, International Clinical Trial Registry, Australia and New Zealand Clinical Trial Registry Search Strategy and <span><span>ClinicalTrials.gov</span><svg><path></path></svg></span>. Studies were included if they explored the functional outcomes and/or safety of microsurgical clipping and endovascular coiling for ruptured ACOM aneurysms. Eligible studies were critically appraised by two reviewers to assess methodological qualitied. Where possible, data from included studies was <em>meta</em>-analysed using a random effects Mantel-Haenszel model. Effect measures included odds ratio and risk difference where no events were recorded.</div></div><div><h3>Results</h3><div>The search yielded 818 records. Following screening of titles and abstracts against the review inclusion criteria, 25 articles were retrieved for full-text screening. Of these, 11 studies, all of which were non-randomised studies (2 quasi-experimental and 9 retrospective cohort studies), were included.</div><div>For the primary outcome (favourable functional outcomes), analysis revealed overall no statistically significant difference between microsurgical clipping and endovascular coiling (79.4 % versus 73.6 %, OR 1.11, 95 % CI 0.78 – 1.57, p = 0.56). Results from the quasi-experimental studies demonstrated favourable outcomes in the clipping group were non-significantly higher than the coiling group (86.2 % versus 80.4 %, OR 2.26, 95 % CI 0.6–8.52, p = 0.23). In cohort studies, favourable outcomes in the clipping group were non-significantly higher than the coiling group (78.9 % versus 72.3 %, OR 1.05, 95 % CI 0.71–1.53, p = 0.23). For the secondary outcomes of recurrence and complications, overall no statistically significant difference was found between clipping versus coiling (recurrence − 4.6 % versus 5.7 %, RD 0.00, 95 % CI −0.06 – 0.06, p = 0.47; complications- 21.6 % versus 14.2 %, OR 1.00 95 % CI 0.49 – 2.05, p = 1.00). Occlusion was found to be significantly higher in the clipping group compared to coiling (95 % versus 75 %, OR 7.01, 95 % CI 2.82 – 17.45, p=<0.0001).</div></div><div><h3>Concl","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"145 ","pages":"Article 111821"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145882456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nan Xue , Wan Zhang , Xinyan Guo , Tianyu Ma , Mengwen Lu , Xinyi Ye , Min Jiang , Li Sun , Mingjin Yang , Xiaoyu Huang , Yong Zhang , Zhouao Zhang , Yanbo Wang , Ying Sheng
{"title":"Association of sleep disorder with bulbar weakness and short-term outcomes in myasthenia gravis","authors":"Nan Xue , Wan Zhang , Xinyan Guo , Tianyu Ma , Mengwen Lu , Xinyi Ye , Min Jiang , Li Sun , Mingjin Yang , Xiaoyu Huang , Yong Zhang , Zhouao Zhang , Yanbo Wang , Ying Sheng","doi":"10.1016/j.jocn.2026.111863","DOIUrl":"10.1016/j.jocn.2026.111863","url":null,"abstract":"<div><h3>Background</h3><div>Sleep disorder is increasingly recognized in myasthenia gravis (MG). However, its specific link to bulbar muscle weakness and short-term outcomes is not well established. This study aimed to investigate the prevalence of subjective sleep disorder (based on Pittsburgh Sleep Quality Index [PSQI] score) in a cohort of acetylcholine receptor (AChR) antibody-positive MG patients, and to explore its associations with bulbar muscle weakness, disease severity, and its value for the short-term outcome of MG.</div></div><div><h3>Methods</h3><div>We conducted a prospective cohort study of 163 AChR-MG patients. Subjective sleep quality was assessed using the PSQI score. Disease severity was evaluated with MG Specific Activities of Daily Living (MG-ADL) score, the Quantitative MG (QMG) score, and Myasthenia Gravis Foundation of America (MGFA) classification. Univariate and multivariable logistic regression were used to identify independent risk factors and establish prediction model for outcome. The predictive values were evaluated by receiver operating characteristic (ROC) curves. Moreover, calibration analysis and decision curve analysis (DCA) of the model were performed.</div></div><div><h3>Results</h3><div>The median PSQI score was 7.0 (5.0, 9.0) and the prevalence of sleep disorder (PSQI > 5) was 73.6 %. Patients with bulbar weakness had significantly higher PSQI scores than those without (P < 0.001). PSQI score showed significant positive correlations with MG-ADL (r = 0.319, P < 0.001),QMG (r = 0.356, P < 0.001) in MG patients. A higher baseline PSQI score was identified as an independent risk factor for poor outcome at 6 months (odds ratio: 1.642 [95 % CI: 1.340–2.014], P < 0.001), with a area under curve (AUC) of 0.797. A predictive model combining PSQI score, bulbar weakness, and female gender demonstrated good discrimination, with a AUC of 0.840, a sensitivity of 0.688, and a specificity of 0.870.</div></div><div><h3>Conclusion</h3><div>Poor sleep quality is highly prevalent in AChR-MG and was more serious in patients with bulbar weakness. PSQI score was an independent risk factor for poor short-term outcome. Routine assessment of sleep may aid in risk stratification and personalized management.</div></div>","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"145 ","pages":"Article 111863"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"SESA syndrome: synthesizing evidence and proposing diagnostic criteria and severity grading—a scoping review","authors":"Romil Kukadiya , Arth Shah , Soaham Desai","doi":"10.1016/j.jocn.2026.111857","DOIUrl":"10.1016/j.jocn.2026.111857","url":null,"abstract":"<div><h3>Background</h3><div>Subacute Encephalopathy with Seizures in Alcoholics (SESA) syndrome is an underrecognized neurological complication among chronic alcohol users, characterized by subacute encephalopathy, seizures, focal neurological deficits, and distinctive EEG and neuroimaging findings. Despite advancements, gaps remain in standardized diagnosis, therapeutic management, and long-term outcomes.</div></div><div><h3>Objectives</h3><div>This scoping review aims to synthesize published evidence on the clinical presentation, EEG and neuroimaging findings, management strategies, and outcomes of SESA syndrome, while proposing refined diagnostic criteria and a severity grading scale.</div></div><div><h3>Methods</h3><div>Studies reporting adult patients with chronic alcohol abuse presenting with SESA syndrome, as defined by the co-occurrence of encephalopathy, seizures, and focal deficits with supporting EEG or neuroimaging findings, were included. All study designs were eligible; reviews, commentaries, and editorials without original data were excluded. A systematic search was conducted in PubMed/MEDLINE, Embase, Web of Science, relevant grey literature, and conference abstracts from January 1981 to April 2025. Reference lists of included articles were manually screened. Data were extracted independently into standardized forms for demographics, clinical features, diagnostics, management, and outcomes. Quality appraisal used the Joanna Briggs Institute checklist.</div></div><div><h3>Results</h3><div>Forty-five patient cases from 29 studies were included. SESA syndrome presents with a consistent triad, varied seizure types, hallmark EEG LPDs, and reversible MRI abnormalities. Proposed criteria and severity scale may facilitate early recognition and guide management.</div></div><div><h3>Conclusions</h3><div>SESA syndrome requires heightened awareness and multidisciplinary management. Future research should validate proposed diagnostic tools and elucidate pathophysiology and long-term outcomes.</div></div>","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"145 ","pages":"Article 111857"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145922421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Facial-onset SOD1 amyotrophic lateral sclerosis: A case report and systematic review","authors":"Giammarco Milella , Sebastiano Carlone , Fedele Luisi , Vittorio Velucci , Giovanni Defazio","doi":"10.1016/j.jocn.2026.111856","DOIUrl":"10.1016/j.jocn.2026.111856","url":null,"abstract":"<div><h3>Background</h3><div>Facial-onset weakness is an exceptionally rare presentation of SOD1-associated amyotrophic lateral sclerosis (ALS), and its natural history, anatomical spread, and prognostic implications remain unclear.</div></div><div><h3>Methods</h3><div>We report a woman carrying a heterozygous SOD1 A5T variant who presented with isolated, rapidly progressive bilateral facial palsy, and we performed a PRISMA-compliant systematic review of MEDLINE, Scopus, and Web of Science to identify genetically confirmed SOD1-positive ALS with facial-onset weakness. Case-level demographic, genetic, clinical, neurophysiological, and outcome data were extracted and synthesised descriptively.</div></div><div><h3>Results</h3><div>Eleven patients were included (7 men, 4 women; mean age at onset 52.3 years). Seven SOD1 variants were represented, predominantly associated with short survival (e.g. A5V, C7G, A5T). Facial weakness was initially confined to the lower face in 5/11 patients, while 6/11 had combined upper and lower facial involvement. Disease spread followed a stereotyped pattern: early contralateral facial recruitment (mean 3.6 months), rapid bulbar involvement (4.2 months), and later extension to the upper limbs (9.2 months), frequently with side-concordance between facial and arm involvement. Lower motor neuron (LMN) signs predominated in the early phases of the disease. Survival was short (median 16 months), lower than reported for unselected SOD1-ALS cohorts with the same genotypes. Three patients received tofersen, with heterogeneous outcomes.</div></div><div><h3>Conclusions</h3><div>Facial-onset SOD1 ALS defines a distinctive phenotype characterised by LMN-predominant facial palsy in early phases, near-neighbour spread, and an aggressive course exceeding genotype-based expectations. Prompt recognition and genetic testing in progressive facial palsy unresponsive to immunotherapy are essential to ensure access to gene-targeted treatments.</div></div>","PeriodicalId":15487,"journal":{"name":"Journal of Clinical Neuroscience","volume":"145 ","pages":"Article 111856"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145922480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}