Neurological Sciences最新文献

{"title":"Nomogram for the prediction of relapse factors in patients with neuromyelitis optica spectrum disorder during rituximab treatment.","authors":"Yanning Huang, Lei Wu, Hui Sun, Sai Gao, Dehui Huang, Xi Zhang","doi":"10.1007/s10072-024-07896-9","DOIUrl":"10.1007/s10072-024-07896-9","url":null,"abstract":"<p><strong>Objectives: </strong>Develop a nomogram to analyse the factors influencing the relapse of neuromyelitis optica spectrum disorder (NMOSD) during rituximab (RTX) treatment.</p><p><strong>Methods: </strong>A retrospective analysis of 214 NMOSD patients identified 181 with AQP4-IgG-seropositive. 32 patients who relapsed during RTX treatment were included, and 122 sets of lymphocyte subset monitoring data were collected. 110 sets of data were finally included and divided into relapse (n = 30) and nonrelapse (n = 80) groups depending on whether a relapse occurred between two adjacent RTX treatments. Logistic and LASSO regressions were used to identify the relevant factors influencing NMOSD relapse, and a nomogram was constructed. Receiver operating characteristic (ROC) curves were generated to evaluate the nomogram's ability to differentiate, and the bootstrap method was utilized for internal validation. Calibration curve and decision curve analysis were also conducted.</p><p><strong>Results: </strong>Comparing baseline data revealed differences in the RTX administration interval, CD3^-CD19⁺ B lymphocyte and CD3^-CD56⁺ NK cell levels. The RTX administration interval and the level of CD3^-CD19⁺ B lymphocytes were independent variables influencing relapse. The nomogram had an area under the curve (AUC) of 0.71 and a 95% confidence interval (CI) of 0.58-0.83. The Hosmer-Lemeshow (H-L) goodness-of-fit test yielded a χ² = 11.80 (p = 0.16). Decision curve analysis revealed that the model provided greater net benefits within the threshold probability range of 0.18-0.98.</p><p><strong>Conclusion: </strong>The nomogram developed in this study showed that the RTX administration interval and CD3^-CD19⁺ B lymphocyte levels independently influence NMOSD relapse, indicating good discriminative ability, consistency, and clinical benefits.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1807-1815"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770300","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":"Italian translation, cultural adaptation, and validation of the Action Research Arm Test (ARAT) and the Stroke Upper Limb Capacity Scale (SULCS) for individuals post-stroke.","authors":"Giovanni Galeoto, Anna Berardi, Rachele Simeon, Jesús Ángel Seco Calvo, Jerónimo González-Bernal","doi":"10.1007/s10072-024-07891-0","DOIUrl":"10.1007/s10072-024-07891-0","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to culturally adapt and validate the Stroke Upper Limb Capacity Scale (SULCS) and Action Research Arm Test (ARAT) for use with post-stroke patients in Italy.</p><p><strong>Methods: </strong>The original scales were translated and culturally adapted following the \"Translation and Cultural Adaptation of Patient Reported Outcomes Measures - Principles of Good Practice\" guidelines. We assessed internal consistency and test-retest reliability, while concurrent validity was evaluated using Pearson correlation coefficients with the Italian version of the Disability Arm Shoulder and Hand (DASH).</p><p><strong>Results: </strong>A total of 56 participants were recruited for the study. The Italian versions of the scales demonstrated excellent stability and reliability both within and between raters. The Cronbach's alpha coefficients were 0.904 for SULCS and 0.998 for ARAT, indicating strong internal consistency among items. The interclass correlation coefficients were 0.998 (95% C.I.: 0.993-0.990) for inter-rater reliability and 0.987 (95% C.I.: 0.984-0.995) for intra-rater reliability for SULCS, and 0.998 (95% C.I.: 0.999-0.996) for inter-rater reliability and 0.992 (95% C.I.: 0.998-0.987) for intra-rater reliability for ARAT.</p><p><strong>Conclusions: </strong>Both scales exhibit robust validity and reliability, making them valuable tools for clinical assessment and functional evaluation of upper limb capacity in post-stroke patients. We recommend the integration of the ARAT and SULCS into initial patient assessments and ongoing monitoring to enhance rehabilitation outcomes.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1695-1705"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807289","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":"Effects of natalizumab on oligoclonal bands in the cerebrospinal fluid of patients with multiple sclerosis: a systematic review and meta-analysis.","authors":"Andreas Liampas, Vasilis-Spyridon Tseriotis, Theodoros Mavridis, George D Vavougios, Panagiotis Zis, Georgios M Hadjigeorgiou, Panagiotis Bargiotas, Chryssa Pourzitaki, Artemios Artemiadis","doi":"10.1007/s10072-024-07930-w","DOIUrl":"10.1007/s10072-024-07930-w","url":null,"abstract":"<p><strong>Introduction: </strong>Oligoclonal bands (OCBs) in cerebrospinal fluid (CSF) are utilized for diagnosing multiple sclerosis (MS), as they are found in 95% of patients. Additionally, OCBs are linked to disease prognosis. The primary contributors to OCB production are long-lived plasma cells. This study aims to quantify the impact of natalizumab (NTZ) on OCB levels in the CSF of MS patients.</p><p><strong>Methods: </strong>A systematic search on MEDLINE, SCOPUS and Web of Science for English-written and peer-reviewed longitudinal studies on adults was performed. Methodological quality was assessed with the Newcastle-Ottawa Scale. Proportional meta-analysis was performed in R using a generalized linear mixed-effects model. We investigated heterogeneity with influence diagnostics, sensitivity analysis and meta-regression.</p><p><strong>Results: </strong>Eight eligible studies of adequate quality with a total sample of 326 relapsing-remitting MS patients were included. A summary rate of 14.07% [95% CI, 4.48%-36.36%] for complete loss of OCBs and 42.02% [95% CI, 15.23%-74.51%] for reduction in OCB number or intensity was observed, both with considerable heterogeneity. Pooled estimates dropped (11% [95% CI, 0.04%-0.29%] and 34% [95% CI, 0.11%-0.68%] respectively) after the identification of an influential study. Multivariable meta-regression identified IgG index as a factor contributing to heterogeneity (adj. p = 0.0279), regarding reduction of OCB number or intensity.</p><p><strong>Discussion: </strong>In conclusion, our systematic review and meta-analysis showed that NTZ can lead to reduction of intrathecal OCBs in MS patients, indicating a possible effect of NTZ on memory plasma cells, which are the main source of OCBs in MS.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1541-1553"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142822326","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":"Dynamic 18 F-FDG PET to detect differences among patients with progressive and relapsing multiple sclerosis: a pilot study.","authors":"Carlos Quintanilla-Bordás, Matías Fernández-Patón, Amadeo Ten, Cristina Ferrer-Pardo, Sara Carratala-Bosca, Jéssica Castillo-Villalba, Laura Cubas-Núñez, Raquel Gasqué-Rubio, Laura Verdini-Martínez, Francisco Pérez-Miralles, Luís Martí-Bonmatí, Bonaventura Casanova","doi":"10.1007/s10072-024-07921-x","DOIUrl":"10.1007/s10072-024-07921-x","url":null,"abstract":"<p><strong>Background: </strong>Patients with multiple sclerosis (MS) may remain in a relapsing-remitting (RRMS) course despite long-standing disease, while others will develop secondary progression (SPMS). Chronic inflammation and changes in the blood-brain barrier resulting in perturbed glucose metabolism may account for these differences. PET-MRI with kinetic analysis of 2-deoxy-2(18 F)fluoro-d-glucose (18 F-FDG) provides insight into glucose metabolism and has proven useful in several chronic inflammatory diseases. However, to our knowledge, it has never been studied in MS.</p><p><strong>Objective: </strong>To explore potential differences in glucose distribution kinetics among individuals with long-standing SPMS and RRMS using dynamic 18-F-FDG PET-MRI.</p><p><strong>Methods: </strong>Dynamic 18-F-FDG PET-MRI scans were obtained in 11 patients with long-standing MS: 4 with RRMS and 7 with SPMS. Kinetic analysis of PET data was performed using a three-compartment model equation that represents plasma, tissue and 18 F-FDG phosphorylation. Individual rate constants of 18-F-FDG across the compartments were calculated.</p><p><strong>Results: </strong>Patients with SPMS exhibited a trend towards an increased net influx rate of glucose (p = 0.059) and an increased rate constant representing glucose phosphorylation. Together, the data suggest increased uptake of glucose and glycolysis in these patients.</p><p><strong>Conclusion: </strong>Dynamic 18 F-FDG PET-MRI is a feasible technique that may show information in vivo of glucose metabolism in MS. Although preliminary data suggest a potential radiological marker of progression in MS, further studies are required to confirm this hypothesis.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1783-1787"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847051","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":"Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.","authors":"Abolfazl Yari, Farzane Vafaeie, Zahra Miri Karam, Mahya Hosseini, Ebrahim Miri-Moghaddam","doi":"10.1007/s10072-024-07892-z","DOIUrl":"10.1007/s10072-024-07892-z","url":null,"abstract":"<p><strong>Introduction: </strong>Galloway-Mowat syndrome type 3 (GAMOS3) is a rare genetic disorder with renal and neurological complications caused by pathogenic variants in the OSGEP gene. Here, we report the molecular basis and clinical features in an Iranian family.</p><p><strong>Methods: </strong>Our proband, a 10-month-old female patient, presented with microcephaly, global developmental delay, lower limb spasticity, facial dysmorphisms, and renal tubulopathy. Brain magnetic resonance imaging (MRI), electroencephalography (EEG), and laboratory tests were performed to evaluate the clinical features. WES, Sanger sequencing, computational variant analysis, and gene expression analysis were conducted to identify, validate, and evaluate the genetic cause. Additionally, I-TASSER, HADDOCK, and GROMACS tools were utilized for protein modeling, computational docking, and molecular dynamics simulation (MDS), respectively.</p><p><strong>Results: </strong>Blood and urine tests revealed proteinuria, hypercalciuria, and hypoalbuminemia. Brain MRI detected craniosynostosis, global parenchymal atrophy, and dysgenesis of the corpus callosum. Exome sequencing identified a previously unreported homozygous variant (NM_017807.4, c.689 G > T/p.C230F) in OSGEP, demonstrating co-segregation with the condition in the family. This missense variant did not significantly change the mRNA transcription. In-silico experiments predicted that this variant would likely alter the protein's structure and impair its normal functioning. Molecular docking results indicated that this variant significantly affects the protein interactions between OSGEP and LAGE3 proteins. Furthermore, MDS findings demonstrated that the p.C230F variant induced a conformational change in the mutant structure, potentially modifying its flexibility and stability.</p><p><strong>Conclusion: </strong>Identification of this variant contributes to expanding the OSGEP gene variant database, establishing a solid scientific foundation for precise clinical diagnosis and treatment.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1843-1858"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807207","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":"Comparative efficacy of common rehabilitation treatments for patients with neuropathic pain after spinal cord injury: a systematic review and network meta-analysis.","authors":"Si-Yuan Ge, Miao-Miao Hu, Kun-Peng Li, Cai-Qin Wu, Guo-Hui Xu, Lu Dong","doi":"10.1007/s10072-025-08120-y","DOIUrl":"https://doi.org/10.1007/s10072-025-08120-y","url":null,"abstract":"<p><strong>Background: </strong>Neuropathic pain is a prevalent complication following spinal cord injury, imposing severe physical and psychological burdens on affected individuals. It often hinders complete physical and mental recovery. Despite numerous rehabilitation interventions being explored and implemented, the optimal treatment strategy for neuropathic pain post-spinal cord injury remains a subject of ongoing debate. To address this uncertainty, a comprehensive network meta-analysis is imperative. This analysis aims to compare the effectiveness of various rehabilitation interventions and guide clinical staff in selecting the most efficacious treatment to alleviate patients' physical and psychological distress.</p><p><strong>Methods: </strong>Embase, PubMed, Scopus, Web of Science, CNKI, Wan Fang, Vip Journal Integration Platform and Sinomed were searched from the establishment of the database to 13 June 2024. Employing ROB 2.0 and Stata 18.0 for literature selection, quality evaluation and meta-analysis, the effectiveness of various rehabilitation interventions was assessed. These interventions were evaluated using network-level and cumulative level surface under the cumulative ranking area analysis.</p><p><strong>Results: </strong>The review included 31 studies involving 1820 patients. According to the cumulative ranking area ranking of 17 therapies, the best three interventions for reducing pain are repetitive transcranial magnetic stimulation, acupuncture, and intermittent theta burst stimulation.</p><p><strong>Conclusions: </strong>The intermittent theta burst stimulation treatment demonstrated superior efficacy in managing pain after spinal cord injury, closely followed by acupuncture and repetitive transcranial magnetic stimulation. This analysis provides a solid foundation for clinical staff to select the appropriate therapeutic approaches.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753521","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":"Repeated transcranial magnetic stimulation on the bilateral cerebellum to improve symptoms of ataxia with multiple system atrophy: a prospective, randomized, sham-controlled pilot study.","authors":"Dongrui Li, Changchun Jiang, Jiahui Liu, Yu Fan, Xiwa Hao, Meng Fu, Ying Xu, Xianpeng Chen, Jinfeng Zhang, Guorong Liu","doi":"10.1007/s10072-025-08001-4","DOIUrl":"10.1007/s10072-025-08001-4","url":null,"abstract":"<p><strong>Objectives: </strong>Ataxia is a common symptom in patients with Cerebellar subtype of Multiple system atrophy (MSA-C), but effective treatments remain elusive. The present study aims to investigate whether repetitive transcranial magnetic stimulation (rTMS) over the bilateral cerebellum could relieve ataxia in patients with MSA-C.</p><p><strong>Patients and methods: </strong>This is a single-center, randomized and double-blind trial. 26 patients with MSA-C were randomly divided into experimental group and control group. The experimental group underwent (rTMS) in both cerebellum for 10 consecutive days, while the control group was given sham rTMS. The participants underwent clinical assessments at baseline (T0), and three follow-up timepoints, that is, immediately after the tenth treatment session (T1), 2 weeks (T2), and 4 weeks (T3) after T1. The Scale for the Assessment and Rating of Ataxia scores (SARA) was used as the primary outcome measure, with the Fatigue Severity Scale-9 (FSS-9), the Hamilton Anxiety Scale (HAMA) and the Hamilton Depression Rating Scale-24 (HAMD-24) as secondary outcomes.</p><p><strong>Results: </strong>Two-way repeated ANOVAs showed significant group × time interactions among SARA (p < 0.001), FSS-9 (p < 0.001), HAMA (p < 0.001) and HAMD-24 (p < 0.001). Post-hoc analyses showed that compared with T0, the activity group showed significant improvement in SARA, HAMA and HAMD-24 scores at T1, T2 and T3, and significant improvement in FSS-9 scores at T1 and T2, but no significant improvement in T3.</p><p><strong>Conclusion: </strong>rTMS over bilateral cerebellum could provide short-term improvements for alleviating ataxia and the symptoms of fatigue, depression anxiety, but the beneficial effects last no more than 4 weeks.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1875-1882"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmune Atypical Parkinsonism: A 10 year follow up of the original cohort.","authors":"Sreelakshmi Sunil Kumar, Sudheeran Kannoth, Vivek Nambiar, Siby Gopinath, Anandkumar Anandakuttan, Saraf Udit Umesh, Gopikrishnan Unnikrishnan, Meena Thevarkalam, Annamma Mathai, Uday Kumar Rangaswamy, Abish Sudhakar","doi":"10.1007/s10072-025-07995-1","DOIUrl":"10.1007/s10072-025-07995-1","url":null,"abstract":"<p><strong>Background: </strong>In this research, we extend our initial study in 2016 of a distinct cohort diagnosed with autoimmune atypical parkinsonism, assessing the long-term effects of immunotherapy over a decade.</p><p><strong>Objective: </strong>To study the long-term effects of immunotherapy in patients with autoimmune atypical parkinsonism over 10 years.</p><p><strong>Design: </strong>Retrospective Observational Study Design STUDY SETTING: The study was carried out at the Department of Neurology at Amrita Institute of Medical Sciences, Kochi, Kerala. The cohort described in our previous study were followed up using data from EMR or by telecommunication.</p><p><strong>Measurements: </strong>The authors utilized 9q-mRS scores to assess the disability scores and Kaplan-Meier life tables, using months as the time scale, to estimate the survival of patients with autoimmune atypical parkinsonism who underwent immunotherapy.</p><p><strong>Results: </strong>Six out of 10 patients expired, but they experienced a good improvement in their 9q-mRS scores during their treatment. Out of the 4 surviving patients, 3 exhibited outstanding responses to immunotherapy while one maintained stable 9q-mRS over an extended period. Kaplan-Meier survival analysis revealed a mean survival time of 74.7 months and a median of 68 months, with 40% of cases censored.</p><p><strong>Conclusions: </strong>Immunotherapy significantly improved the disability scores in patients with autoimmune atypical parkinsonism.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1883-1890"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023685","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":"Itel MMSE: a short phone screening test for cognitive decline. Italian Validation study by the SINdem Neuropsychology Working Group.","authors":"Davide Quaranta, Federica L'Abbate, Annalisa Pelosi, Andrea Arighi, Gesuina Asoni, Chiara Bagattini, Valentina Bessi, Laura Bonanni, Marta Bortoletto, Amalia Cecilia Bruni, Annachiara Cagnin, Stefano F Cappa, Franco Giubilei, Maria Guarino, Alessandro Iavarone, Valeria Isella, Antonina Luca, Roberto Monastero, Francesca Ferrari Pellegrini, Marta Perini, Tommaso Piccoli, Innocenzo Rainero, Gioacchino Tedeschi, Camillo Marra, Paolo Caffarra","doi":"10.1007/s10072-024-07863-4","DOIUrl":"10.1007/s10072-024-07863-4","url":null,"abstract":"<p><strong>Introduction: </strong>The Italian telephone-based Mini-Mental State Examination (Itel-MMSE) is considered a very easy tool for screening individuals with dementia, gained importance during COVID-19, but lacks validation and faces a ceiling effect.</p><p><strong>Aim: </strong>In the present study, we conducted a study standardizing and validating it, establishing cut-off values for two versions.</p><p><strong>Methods: </strong>Across 24 Italian sites, 707 healthy individuals (50-89 years, men: 268, women: 439) with diverse educational levels (3-24 years) were recruited. Subjects met criteria for normal conditions investigated through a semi-structured interview covering neurological, psychiatric, general medical, and psychopharmacological history. Two test versions were created to assess test-retest reliability at 45-day intervals. We also enrolled 187 subjects with Mild Cognitive Impairment (MCI) and 181 with Alzheimer's Disease (AD) for validation. The raw scores obtained on both versions of Itel-MMSE were set as dependent variables in linear regression models that included age, education, and gender as independent variables. RESULTS : Mean raw Itel-MMSE1 score was 20.82 (range: 13-22). Multiple linear regression demonstrated significant effects of sociodemographic variables for age and education, establishing a new cut-off ≥ 18.49. Mean raw Itel-MMSE2 score was 20.97 (range: 10-22), with a new cut-off ≥ 18.45. Validation showed high informative values, with areas under the curve (AUCs) for MCI and AD conditions and both versions (Itel-MMSE1: MCI AUC = 0.801, AD AUC = 0.907; Itel-MMSE2: MCI AUC = 0.827, AD AUC = 0.977).</p><p><strong>Conclusion: </strong>The Itel-MMSE proves valuable as a screening method for detecting and monitoring dementia in remote phone screenings, with different cut-offs aiding MCI patient identification in clinical settings.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1617-1627"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770390","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":"NOTCH3 variants of unknown significance underpin vascular dysfunction in neurodegenerative disease: a case series of three nfvPPA-FTD patients.","authors":"M G Di Donna, V L Colona, M R Bagnato, C G Bonomi, L Tirrito, E Marchionni, C Motta, F C Sangiuolo, A Martorana","doi":"10.1007/s10072-024-07908-8","DOIUrl":"10.1007/s10072-024-07908-8","url":null,"abstract":"<p><strong>Introduction: </strong>The NOTCH3 gene encodes for an evolutionarily conserved protein, whose functions encompass both embryonic cell proliferation and adult tissue-specific differentiation. Among others, a pivotal role in maintaining functional integrity of neurovascular unit (NVU) is supported by the association of several NOTCH3 gene mutations with neuroimaging markers of cerebral small vessel disease (SVD). Indeed, a pathogenic role of NOTCH3 is recognised in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, an increasing number of NOTCH3 variants with unclear pathogenic role have been identified in patients suspected of having CADASIL. The following case series describes three patients under the age of 65 with clinical diagnosis of nonfluent-variant of primary progressive aphasia (nfvPPA), whose genetic analysis revealed the presence of three distinct novel variants of unknown significance (VUS) in NOTCH3 gene.</p><p><strong>Results: </strong>The diagnostic work-up revealed common features among the patients: clinical presentation -nfvPPA at neuropsychological evaluation with consistent extrapyramidal symptoms; neuroimaging -low brain MR burden of SVD and FDG-PET impairment of cortical areas involved in speech production network; and biomarkers -Cerebrospinal fluid (CSF) analysis negative for Alzheimer's Disease (AD), corroborating suspicion of underlying Frontotemporal Lobe Degeneration (FTLD).</p><p><strong>Discussion and conclusion: </strong>The retrieved VUS in NOTCH3 suggest that the involvement of Notch signalling in pathophysiology of neurodegenerative disease is more complex and needs to be fully explored. Rare variants in SVD-associated genes may influence progression of neurodegeneration via the dysfunction of several vascular pathways.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1637-1646"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801844","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}