Neurology最新文献

{"title":"Use of Portable 24-Hour Polysomnography as Alternative Diagnostic Tool for Narcolepsy Type 1 in Adults and Children.","authors":"Francesco Biscarini, Stefano Vandi, Corrado Zenesini, Luca Vignatelli, Francesca Citeroni, Elena Antelmi, Christian Franceschini, Lucie Barateau, Yves Dauvilliers, Emmanuel Mignot, Giuseppe Plazzi, Fabio Pizza","doi":"10.1212/WNL.0000000000213473","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213473","url":null,"abstract":"<p><strong>Background and objectives: </strong>The diagnosis of narcolepsy type 1 (NT1) currently requires the multiple sleep latency test (MSLT), or a nocturnal sleep-onset REM period (SOREMP) combined with typical cataplexy, or alternatively the determination of CSF hypocretin-1 (CSF-hcrt-1) deficiency. We evaluated the 24-hour polysomnography (PSG) recordings in adult and pediatric patients as an alternative diagnostic tool.</p><p><strong>Methods: </strong>Patients of any age, referred to the narcolepsy center of a university hospital for suspected central disorder of hypersomnolence (CDH), were consecutively recruited between 2013 and 2022. Participants underwent 2 days (day1-night1-day2-night2) of continuous dynamic PSG followed by MSLT. When consent was given, CSF-hcrt-1 was measured. The accuracy of 24-hour PSG variables from night1 and day2 (index test) was assessed with receiver operating characteristic (ROC) curve analysis in identifying NT1 based on current criteria (applied to night2-PSG, MSLT, and CSF-hcrt1). The markers with area under the curve (AUC) ≥0.75 were then tested in adults and children, separately, and to diagnose NT1 and narcolepsy type 2 (NT2) in different scenarios.</p><p><strong>Results: </strong>Eight hundred seven patients (30.1% pediatric, 52.4% male) were included, and 709 had CSF-hcrt-1 measured. According to the standard criteria, 322 were diagnosed with NT1 (mean age 26.7 ± 17.1 years, 40.4% pediatric, 54.0% male) and 484 with non-NT1 (mean age 32.7 ± 16.5 years, 23.3% pediatric, 51.3% male), encompassing 31 with NT2, 163 with idiopathic hypersomnia, and 281 with other diagnoses. Detecting SOREMP ≥1 during daytime resulted in AUC = 0.84 (95% CI 0.82-0.87), with 84.4% sensitivity and 84.5% specificity for NT1. Performance was superior to all nighttime-PSG measures (<i>p</i> < 0.001) including nighttime-SOREMP (AUC = 0.77, 95% CI 0.74-0.80; sensitivity = 62.1%, specificity = 91.7%) and did not differ from 24-hour SOREMP ≥1 (AUC = 0.85, 95% CI 0.82-0.87; sensitivity = 89.7%, specificity = 80.2%). The combination of daytime-SOREMP ≥1 with cataplexy showed AUC = 0.89 (95% CI 0.86-0.91) for NT1, superior to the combination of nighttime-SOREMP with cataplexy (AUC = 0.78, 95% CI 0.76-0.81, <i>p</i> < 0.001) and similar to MSLT criteria for narcolepsy (AUC = 0.90, 95% CI 0.88-0.92, <i>p</i> = 0.36). Performances were similar in adults and children. Daytime-SOREMP ≥1 identified NT1 and NT2 combined within all CDH with a sensitivity of 80.8% and specificity of 88.0%.</p><p><strong>Conclusions: </strong>The detection of daytime-SOREMP during dynamic 24-hour PSG is more accurate than nighttime-SOREMP for diagnosing narcolepsy and, combined with cataplexy, is comparable with MSLT criteria for the identification of NT1. These results offer the prospect of 24-hour PSG diagnostics for NT1 in the home setting.</p><p><strong>Classification of evidence: </strong>This study provides Class II evidence that daytime SOREMP during a 24","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213473"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Reasoning: A 19-Year-Old Woman With Progressive Weakness and Numbness in Her Arms and Legs.","authors":"Al-Alya Alsabah, Merve Kaleli, Negar Khanlou, Yigit Karasozen","doi":"10.1212/WNL.0000000000213495","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213495","url":null,"abstract":"<p><p>Acute worsening of chronic weakness and numbness can have diagnostic challenges when trying to distinguish between acquired and hereditary conditions. We present the case of a 19-year-old patient who had acute worsening of chronic symmetric sensory and motor neuropathy with no response to intravenous immunoglobulin. Her story highlights the diagnostic approach for patients with atypical features of acquired vs genetic neuropathies and the importance of interpreting a \"pathogenic\" gene variant in this clinical context. Readers will explore the diagnostic steps our group has considered to reach our final diagnosis and the management of patients with complex neuropathy.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213495"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional Outcome in Patients With Carotid Artery Dissection Undergoing Thrombectomy or Standard Medical Treatment.","authors":"Marek Sykora, Sven Poli, Michael Giannakakis, Joshua Mbroh, Alexandra Gomez Exposito, Stefan Krebs, Alexandra Posekany, Mira Katan, Susanne Wegener, Gian Marco De Marchis, Thomas Gattringer, Hannes A Deutschmann, Lukas Mayer-Suess, Jens Fiehler, Ulrike Ernemann, Florian Hennersdorf, Tomas Dobrocky, Zsolt Kulcsár, Pasquale Mordasini, Marios Psychogios, Christian Loewe, Elke R Gizewski, Christian H Nolte, Christian Neumann, Urs Fischer, Julia Ferrari","doi":"10.1212/WNL.0000000000213465","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213465","url":null,"abstract":"<p><strong>Background and objectives: </strong>Whether thrombectomy compared with best medical treatment (BMT) improves outcome in patients with stroke and carotid artery dissection (CAD) is unknown.</p><p><strong>Methods: </strong>This was an international observational study based on prospective nationwide Austrian, German, and Swiss stroke registries. Patients with large vessel occlusion (LVO) due to CAD were compared according to treatment modality (thrombectomy vs BMT including intravenous thrombolysis) and to admission stroke severity NIH Stroke Scale (NIHSS) <6 vs NIHSS ≥6. The primary outcome was the favorable functional outcome (modified Rankin Score 0-2) at 3 months.</p><p><strong>Results: </strong>Of 1,023 patients (mean age 54 years, 72% males), 516 received thrombectomy and 507 received BMT. After robust adjustment, thrombectomy was associated with favorable outcome in patients presenting with NIHSS ≥6 (adjusted risk ratio (aRR) = 1.77, 95% CI 1.44-2.17). In those presenting with NIHSS <6, thrombectomy was associated with unfavorable outcome (aRR 1.68, CI 1.1-2.56) as compared with BMT.</p><p><strong>Discussion: </strong>Thrombectomy improved functional outcome in patients with LVO due to CAD and admission NIHSS ≥6, but not NIHSS <6 points.</p><p><strong>Classification of evidence: </strong>This study provides Class III evidence that for patients with LVO due to CAD and admission NIHSS ≥6 points, thrombectomy compared with BMT significantly increases the probability of favorable outcome.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213465"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations Between Blood-Based Biomarkers and Cognitive and Functional Trajectories Among Participants of the MEMENTO Cohort.","authors":"Leslie Grasset, Vincent Bouteloup, Federica Cacciamani, Isabelle Pellegrin, Vincent Planche, Geneviève Chêne, Carole Dufouil","doi":"10.1212/WNL.0000000000213521","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213521","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213521"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy Risk Associated With the Receipt of General Anesthesia Relative to Neuraxial Anesthesia: A Retrospective Cohort Study.","authors":"R Grace Couper, Tresah C Antaya, Melody Lam, Philip M Jones, Miguel F Arango, Mauricio Giraldo, Jorge G Burneo","doi":"10.1212/WNL.0000000000213469","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213469","url":null,"abstract":"<p><strong>Background and objectives: </strong>Evidence suggests that the receipt of general anesthesia may be associated with an increased risk of epilepsy compared with neuraxial (i.e., spinal or epidural) anesthesia. Our study objective was to estimate the risk of developing new-onset epilepsy associated with the receipt of general anesthesia relative to neuraxial anesthesia.</p><p><strong>Methods: </strong>We conducted a population-based retrospective cohort study using linked health administrative databases in Ontario, Canada. Participants who underwent an eligible surgical procedure with general or neuraxial anesthesia between April 1, 2007, and March 31, 2015, were included and followed for up to 5 years. Eligible surgical procedures included gynecologic, lower extremity, peripheral vascular, and urologic procedures that could be performed using general or neuraxial anesthesia. Patients with epilepsy or epilepsy risk factors in the 10 years before their surgical procedure were excluded. We used inverse probability of treatment weighting to control for confounding and Fine-Gray subdistribution models to estimate the hazard ratio for epilepsy, accounting for the competing risk of death.</p><p><strong>Results: </strong>The final sample included 100,547 patients who received general anesthesia and 76,644 patients who received neuraxial anesthesia. After weighting, the general and neuraxial anesthesia cohorts comprised 64.8% and 63.0% of women and the mean ages were 56.0 and 56.8 years, respectively. The estimated weighted event rates of epilepsy were 48.8 and 35.5 per 100,000 person-years for general and neuraxial anesthesia cohorts, respectively. The hazard ratio (HR) for epilepsy associated with general anesthesia was 0.61 at time zero (95% CI 0.34-1.07). However, there was evidence that risk changed over the five-year follow-up period (time interaction HR = 1.36, 95% CI 1.12-1.64). This led to a significantly increased risk of epilepsy associated with general anesthesia after approximately 3 years.</p><p><strong>Discussion: </strong>The effects of general anesthesia may take multiple years to become significantly associated with an increased risk of epilepsy. However, our findings are likely affected by other factors, such as unmeasured differences between the anesthesia cohorts, types of surgical procedures, and the occurrence of epilepsy risk factors during follow-up. Future research should explore whether there is effect modification between specific surgical procedures and control for the onset of epilepsy risk factors after anesthesia receipt.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213469"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transdiagnostic Network Localization of Social, Language, and Motor Symptoms in Patients With Frontotemporal Lobar Degeneration.","authors":"Tony X Phan, W Andrew Mullins, Aaron M Tetreault, Kiiya Shibata, Jayden L Lee, Kilian Hett, Ciaran M Considine, R Ryan Darby","doi":"10.1212/WNL.0000000000213514","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213514","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213514"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From Diffusion MRI to Prognosis: How Advanced Imaging Techniques Enhance Stroke Recovery Assessment.","authors":"Mara Cercignani, Marco Bozzali","doi":"10.1212/WNL.0000000000213512","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213512","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213512"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uncommon Spinal Cord MRI Findings in a Patient With Early-Onset Amyotrophic Lateral Sclerosis: A Case Report.","authors":"Manh-Louis Nguyen, Andrei Haddad, Bruno Law-Ye, Adele Hesters","doi":"10.1212/WNL.0000000000213503","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213503","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213503"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Reasoning: A 56-Year-Old Woman With New-Onset Hoarseness and Dysphagia.","authors":"Michael McAree, Jennifer A Frontera","doi":"10.1212/WNL.0000000000213363","DOIUrl":"10.1212/WNL.0000000000213363","url":null,"abstract":"<p><strong>Statement of the clinical problem addressed by the case: </strong>We report an atypical clinical presentation of a rapidly progressive neurologic emergency that required prompt investigation and treatment of impending respiratory failure. We discuss the differential diagnosis, evaluation, emergency management, and treatment options of patients with atypical variants of this disorder.</p><p><strong>Brief description of case presentation: </strong>A 56-year-old woman with a history of hypothyroidism, anxiety, and depression presented to the emergency department 3 weeks after an upper respiratory and ear infection with cough, pain with sinus palpation, tingling in her fingers bilaterally and right foot, hives, and an episode of blurry vision on awakening. She was discharged home with antibiotics. That evening, she developed rapidly progressing hoarseness and dysphagia and returned to the emergency department. An initial examination and laryngoscopy revealed complete left vocal cord paralysis, consistent with a left cranial nerve X palsy, which prompted a neurologic evaluation. Her examination progressively worsened over the next day requiring mechanical ventilation and ICU admission.</p><p><strong>Summary of the key teaching point in the case: </strong>New-onset bulbar cranial neuropathies should raise concern for neurologic disorders that can be rapidly progressive and result in respiratory failure. Urgent diagnosis and treatment are warranted.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213363"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Teaching NeuroImage: Peripheral Facial Palsy as the Initial Manifestation of Chronic Invasive Fungal Rhinosinusitis.","authors":"Mingwen Guo, Kun Chio Cheong, Zhaohui Shi, Xifu Wu","doi":"10.1212/WNL.0000000000213435","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213435","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 7","pages":"e213435"},"PeriodicalIF":7.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}