Journal of the Neurological Sciences最新文献

{"title":"Serum miRNAs as biomarkers in Neurofibromatosis 1: New promising findings","authors":"Filomena Napolitano ,&nbsp;Gianmarco Abbadessa ,&nbsp;Milena Dell'Aquila ,&nbsp;Maria Ravo ,&nbsp;Giovanna Maria Ventola ,&nbsp;Giovanna Marchese ,&nbsp;Giuseppina Miele ,&nbsp;Giuseppina Franzese ,&nbsp;Paolo De Blasiis ,&nbsp;Nicole Piera Palomba ,&nbsp;Teresa Esposito ,&nbsp;Gianfranco Puoti ,&nbsp;Simone Sampaolo ,&nbsp;Simona Paladino ,&nbsp;Mariarosa Anna Beatrice Melone","doi":"10.1016/j.jns.2025.123643","DOIUrl":"10.1016/j.jns.2025.123643","url":null,"abstract":"<div><h3>Objective</h3><div>Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder caused by dominant mutations in the <em>NF1</em> gene and characterized by increased susceptibility to develop benign and malignant tumors. The type of <em>NF1</em> mutation, the expression of gene modifiers as well as epigenetic factors correlate with the clinical heterogeneity. In this regard microRNAs (miRNAs) play a role in post-transcriptional gene regulation. Compelling evidence shows that circulating miRNAs mirror pathophysiological conditions, thus emerging as potential biomarkers for human diseases. To date, the role of circulating miRNAs in NF1 has been poorly investigated. We aimed to study serum miRNA profiling as novel non-invasive diagnostic and prognostic biomarkers for NF1 disease.</div></div><div><h3>Methods</h3><div>The profile of circulating miRNAs in a monocentric cohort of 126 NF1 patients was carried out by a pooling approach of small non-coding RNA sequencing and validation analysis by Quantitative Reverse Transcription PCR.</div></div><div><h3>Results</h3><div>sncRNA-seq analysis of pooled serum samples identified 87 differentially expressed miRNAs in NF1 patients compared to healthy controls. qRT-PCR validation confirmed a distinctive circulating miRNA signature in NF1, with significant upregulation of miR-100-5p, miR-16-2-3p, miR-4508, and miR-885-5p and downregulation of miR-107 and miR-4433b-5p. Hierarchical clustering based on these six miRNAs effectively discriminated NF1 subjects from controls, and network analysis revealed their involvement in key cancer-related pathways, including ERK/MAPK, PI3K/AKT, and mTOR signaling.</div></div><div><h3>Interpretation</h3><div>Our study identified a distinct circulating miRNA signature of six miRNAs that reliably differentiates NF1 patients from non-affected individuals. These miRNAs are implicated in regulating NF1 downstream pathways and signaling processes involved in tumorigenesis.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123643"},"PeriodicalIF":3.2,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144770549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subanalyses concerning “Differential impact of Cannabis abuse on neurological disorders”","authors":"Younes Adam Tabi ,&nbsp;Eva Christina Meyer","doi":"10.1016/j.jns.2025.123635","DOIUrl":"10.1016/j.jns.2025.123635","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123635"},"PeriodicalIF":3.2,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144852020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insights into the vascular aging burden in young adults with embolic stroke of undetermined source","authors":"Nikolaos Kakaletsis ,&nbsp;Daniel Gordin ,&nbsp;Nicolas Martinez-Majander ,&nbsp;Lotta Joutsi-Korhonen ,&nbsp;Titta Salopuro ,&nbsp;Krishna Adeshara ,&nbsp;Gerli Sibolt ,&nbsp;Sami Curtze ,&nbsp;Jani Pirinen ,&nbsp;Lauri Soinne ,&nbsp;Tiina Sairanen ,&nbsp;Satu Suihko ,&nbsp;Mika Lehto ,&nbsp;Juha Sinisalo ,&nbsp;Turgut Tatlisumak ,&nbsp;Per-Henrik Groop ,&nbsp;Jukka Putaala","doi":"10.1016/j.jns.2025.123642","DOIUrl":"10.1016/j.jns.2025.123642","url":null,"abstract":"<div><h3>Introduction</h3><div>This study investigates pre-atherosclerotic changes, vascular aging and clinical cardiovascular disease (CVD) risk scores in young adults with embolic stroke of undetermined source (ESUS) compared to stroke-free controls.</div></div><div><h3>Methods</h3><div>The study included 105 ESUS patients and 105 age- and sex-matched stroke-free controls aged 18 to 49 years. Clinical and laboratory characteristics and arterial stiffness measurements were recorded. Vascular aging indexes were defined according to age-adapted values and definitions. Clinical scores PREVENT and SCORE2 were calculated. Associations were investigated using logistic regression adjusting for several factors associated with vascular aging.</div></div><div><h3>Results</h3><div>Young ESUS patients had higher rates of central obesity, smoking, heavy alcohol consumption and patent foramen ovale compared to stroke-free controls. ESUS patients had higher odds of having excessive intima-media thickness (IMT) of the right carotid artery (OR 3.02, 95 %CI:1.31–6.92). They also had significantly higher odds of having elevated estimated pulse wave velocity (ePWV&gt;9 m/s; OR 8.48, 95 %CI:2.16–33.4), high pulse pressure (PP ≥ 60 mmHg; OR 3.13, 95 %CI:1.28–7.68), a 10-year CVD risk above 5 % based on the PREVENT score (OR 8.53, 95 %CI:1.59–45.7), and a 10-year CVD risk above 2.5 % based on SCORE2 (OR 26.5, 95 %CI:3.6–193.6) estimated at the time of their stroke.</div></div><div><h3>Conclusions</h3><div>Despite a low burden of established CVD, young ESUS patients harbored pathology in the vascular aging measures including IMT, ePWV, and PP. Clinical risk scores such as PREVENT and SCORE2 may effectively identify young adults at high risk of developing ESUS.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123642"},"PeriodicalIF":3.2,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply: Immersive virtual reality for cognitive training in Parkinson's disease – Future directions and neuroimaging perspectives","authors":"Eleonora Fiorenzato ,&nbsp;Silvia Zabberoni ,&nbsp;Alberto Costa ,&nbsp;Angelo Antonini ,&nbsp;Giorgia Cona","doi":"10.1016/j.jns.2025.123636","DOIUrl":"10.1016/j.jns.2025.123636","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123636"},"PeriodicalIF":3.2,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144723474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply: Reflections on the cognitive training of immersive virtual reality in executive function and prospective memory for PD-MCI patients and healthy older adults","authors":"Eleonora Fiorenzato ,&nbsp;Silvia Zabberoni ,&nbsp;Alberto Costa ,&nbsp;Angelo Antonini ,&nbsp;Giorgia Cona","doi":"10.1016/j.jns.2025.123638","DOIUrl":"10.1016/j.jns.2025.123638","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123638"},"PeriodicalIF":3.2,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Research design concerns in a retrospective analysis of neurological disorders and cannabis abuse","authors":"Fu-Yi Yang ,&nbsp;Kuo-Cheng Lu ,&nbsp;Kuo-Wang Tsai ,&nbsp;Joshua Wang","doi":"10.1016/j.jns.2025.123634","DOIUrl":"10.1016/j.jns.2025.123634","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123634"},"PeriodicalIF":3.2,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144757370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electroencephalography in patients with immune effector cell-associated neurotoxicity syndrome (ICANS)","authors":"Sarah Flanagan Wesley ,&nbsp;Alec R. Friedman ,&nbsp;Christian Gordillo ,&nbsp;Paul F. Kent ,&nbsp;Ran Reshef","doi":"10.1016/j.jns.2025.123632","DOIUrl":"10.1016/j.jns.2025.123632","url":null,"abstract":"<div><h3>Background &amp; objectives</h3><div>Seizures are a recognized complication of immune effector cell-associated neurotoxicity syndrome (ICANS) from chimeric antigen receptor T cell therapy (CAR-T). Our objective was to characterize continuous (electroencephalogram) EEG data during ICANS to understand EEG patterns in the broader clinical context.</div></div><div><h3>Methods</h3><div>Clinical and EEG data was collected retrospectively from 2018 to 2023 in patients who underwent CAR-T for cancer and subsequently developed ICANS. Baseline cognitive status, brain MRI findings, and neurological involvement of tumor were noted. Infectious and metabolic status was documented.</div></div><div><h3>Results</h3><div>Twenty-nine patients met inclusion criteria. Those who underwent EEG during ICANS had higher grades of ICANS (<em>p</em> &lt; 0.001). Clinical seizures were rare but correlated with increased mortality from ICANS (<em>p</em> = 0.008). Thirty-six 24-h EEG recordings were analyzed across 16 patients. No seizure activity was captured on any EEG. Diffuse slowing was found in 97.2 % of EEGs, with 19.4 % showing focal slowing in the frontal and/or temporal leads. Non-epileptic triphasic morphology occurred in 41.7 % of studies. After controlling for concurrent toxic-metabolic derangements, ICANS remained the only explanation in six cases.</div></div><div><h3>Discussion</h3><div>Clinical seizure events were rare and highly associated with death from ICANS. No persistent epileptiform activity was found on continuous EEGs in our cohort after initiation of antiepileptics with or without other immunotherapy for ICANS, suggesting that prolonged EEG may be of limited utility once electrographic seizures have been ruled out. Frequent triphasic waves were noted in ICANS alone and should not exclude ICANS as the cause of encephalopathy after CAR-T.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123632"},"PeriodicalIF":3.2,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the editor: “Letter to the editor: Immersive virtual reality for cognitive training in Parkinson's disease – Future directions and neuroimaging perspectives”","authors":"Haifeng Yang ,&nbsp;Guoxin Zhang ,&nbsp;Xingwei Gu ,&nbsp;Juan Chen ,&nbsp;Wenjuan Zhou ,&nbsp;Wenwen Xu","doi":"10.1016/j.jns.2025.123637","DOIUrl":"10.1016/j.jns.2025.123637","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123637"},"PeriodicalIF":3.2,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144887592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to the letter regarding our article “Impact of the mode of onset after endovascular treatment for acute ischemic stroke in the post DAWN and DEFUSE-3 era”","authors":"Satoru Fujiwara ,&nbsp;Kazutaka Uchida ,&nbsp;Nobuyuki Sakai","doi":"10.1016/j.jns.2025.123630","DOIUrl":"10.1016/j.jns.2025.123630","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123630"},"PeriodicalIF":3.6,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The phenomenon of dynamic change of cardiac troponin levels in patients with spontaneous intracerebral hemorrhage increases in-hospital mortality independent of macrovascular coronary artery disease","authors":"Hendrik Lesch ,&nbsp;Mathieu Kruska ,&nbsp;Alexander Marx ,&nbsp;Lea Haucke ,&nbsp;Anne Ebert ,&nbsp;Louisa Becker ,&nbsp;Kristina Szabo ,&nbsp;Ibrahim Akin ,&nbsp;Angelika Alonso ,&nbsp;Christian Fastner","doi":"10.1016/j.jns.2025.123633","DOIUrl":"10.1016/j.jns.2025.123633","url":null,"abstract":"<div><h3>Background and aims</h3><div>Growing evidence suggests worse outcomes in patients with spontaneous intracerebral hemorrhage (sICH) and elevated cardiac troponin (cTn) level. While the predictive value of isolated cTn elevation in sICH on outcomes is unclear, few studies have examined patients with follow-up measurement of cTn level. The aim of this study was to investigate the association of a dynamic change in high-sensitivity cTn I (hs-cTnI) levels with in-hospital outcomes in sICH patients.</div></div><div><h3>Methods</h3><div>This retrospective study included acute sICH patients between 2015 and 2021 with serial hs-cTnI level measurement. Group comparisons were performed between patients with dynamic hs-cTnI change, i.e., rise or fall of hs-cTnI levels on follow-up measurement &gt;20 %, and those with stable hs-cTnI levels. Variables with suspected impact on in-hospital mortality were analyzed for their predictive value using multivariate logistic regression analysis.</div></div><div><h3>Results</h3><div>A total of 55/105 sICH patients were found to have a dynamic change in hs-cTnI levels. A dynamic change in hs-cTnI levels was significantly associated with in-hospital mortality. Frequency of intraventricular hemorrhage (IVH) was higher in the dynamic group, while vascular risk profile, burden of coronary artery disease and functional neurological status at admission were evenly distributed. While a dynamic change in hs-cTnI levels showed a trend, solely IVH independently predicted in-hospital mortality.</div></div><div><h3>Conclusions</h3><div>We suggest that a hs-cTnI dynamic is an expression of the acute myocardial ‘hit’ driven by sICH along the brain-heart axis leading to stroke-induced heart injury and not of ischemic myocardial infarction. IVH additionally contributes to the proposed pathomechanism of myocardial injury.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"476 ","pages":"Article 123633"},"PeriodicalIF":3.6,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}