Neurological Sciences最新文献

{"title":"Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review.","authors":"Martina Gnazzo, Giulia Pisanò, Benedetta Piccolo, Emanuela Claudia Turco, Susanna Esposito, Maria Carmela Pera","doi":"10.1007/s10072-025-08155-1","DOIUrl":"10.1007/s10072-025-08155-1","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) frequently causes scoliosis (up to 90% of cases), due to weakened axial muscles impacting motor and respiratory function. While new SMA treatments improve motor function, their effect on scoliosis progression is unclear. This scoping review (2016-October 2024) analyzed literature from Pubmed, MEDLINE, EMBASE, and Scopus, focusing on studies of SMA, scoliosis, and treatment approaches. The aim of this work was to describe the clinical features and the possible therapeutic approaches of scoliosis in the \"new population\" of pharmacologically treated SMA patients. We included all types of SMA as well as all the approved disease modifying therapies (DMTs). The review found significant variability in scoliosis presentation and surgical intervention among different types of treated SMA patients. Early pharmacological treatment may slow scoliosis progression, particularly in Type II SMA. Interestingly, Type I SMA patients, who typically don't develop scoliosis due to severe hypotonia, showed an increased scoliosis onset. Larger studies are needed to fully evaluate the impact of different treatments on scoliosis progression in SMA, especially in Type I SMA patients, to establish updated standards of care.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3431-3442"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763967","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":"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":"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":"3547-3557"},"PeriodicalIF":2.4,"publicationDate":"2025-08-01","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":"Evaluation of autonomic involvement in Parkinson's disease using pupillometry.","authors":"Dilek İşcan, Ceren Türkoğlu, Elif Arslan","doi":"10.1007/s10072-025-08182-y","DOIUrl":"10.1007/s10072-025-08182-y","url":null,"abstract":"<p><strong>Introduction: </strong>The pupillary light reflex (PLR) indicates the function of the autonomic nervous system, which causes the pupil to constrict and dilate. Evaluation of the PLR determines the parasympathetic and sympathetic balance. We aimed to demonstrate autonomic changes by pupillometry in Parkinson'd disease (PD) and to investigate the relationship between the changes and motor stage and levodopa equivalent dose (LEDD).</p><p><strong>Method: </strong>Static pupillometry measurement was performed at scotopic, mesopic and photopic settings. Dynamic pupillometry measurement was performed at 500 lux illumination and pupil diameter was recorded. Static and dynamic pupillometry parameters of Parkinson's disease patients and healthy control group of similar age and gender were compared. The relationship between Unified Parkinson's Disease Rating Scale (UPDRS)-motor, modified Hoehn and Yahr (mHYE) and levodopa equivalent daily dose (LEDD) and pupillometry parameters were analysed.</p><p><strong>Results: </strong>In static pupillometry, mesopic pupil diameter was significantly lower in PD patients (P = 0.04). In dynamic pupillometry, pupil diameter was lower and mean pupil dilation rate was lower in the PD group at 18 seconds. There was a significant negative correlation between mean pupil dilatation velocity and mHYE, UPDRS-motor and LEDD. The mean pupil dilatation velocity was statistically significantly lower in patients not receiving dopaminergic treatment.</p><p><strong>Conclusion: </strong>Changes in pupillometry values in PD have emphasized that the autonomic nervous system is affected and the parasympathetic nervous system was found to be correlated with the motor involvement of the disease.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3685-3690"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020293","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":"Exploring the relationship between dystonia and STN-DBS in Parkinson's disease: insights from a single-centre cohort.","authors":"Luigi G Remore, Delia Gagliardi, Linda Borellini, Alfonso Fasano, Valeria Lo Faso, Filippo Cogiamanian, Enrico Mailand, Gloria Valcamonica, Elena Pirola, Luigi Schisano, Antonella M Ampollini, Giulio A Bertani, Giorgio Fiore, Antonio D'Ammando, Leonardo Tariciotti, Giovanni Marfia, Stefania Elena Navone, Sergio Barbieri, Marco Locatelli","doi":"10.1007/s10072-025-08230-7","DOIUrl":"10.1007/s10072-025-08230-7","url":null,"abstract":"<p><strong>Introduction: </strong>Motor side effects may emerge after deep brain stimulation (DBS) of the subthalamic nucleus (STN) in Parkinson's disease (PD) patients. Out of 60 PD patients, we observed 16 patients displaying de novo dystonic symptoms after the implantation and 11 dystonic PD patients without benefit from the stimulation. We hypothesized that a common neural pathway may cause dystonia in both conditions. Our study aims to investigate the clinical and connectivity substrates of dystonia after STN-DBS.</p><p><strong>Methods: </strong>We divided our cohort into four groups: 16 patients displaying dystonia after STN-DBS, 11 patients with previously known dystonia not improving after surgery, 14 patients with dystonic symptoms relieved by the stimulation and 19 controls who never experienced dystonia. MANOVA was used to compare clinical data and the distance of the active contact center from the STN border among the four groups. Finally, we reconstructed the \"sour\" spots for dystonic symptoms and the associated structural and functional connectivity using a Parkinsonian normative connectome.</p><p><strong>Results: </strong>De novo dystonic and not-improved dystonic patients had a statistically significant longer PD duration before surgery (p = 0.001) and a greater active contact-STN distance (p < 0.001). Moreover, the \"sour\" spots were similar in both groups and structural and functional connectivity profiles were associated with brain areas correlated with dystonia pathophysiology (cerebellum, midbrain, parietal and temporal cortices).</p><p><strong>Conclusions: </strong>We formulated a two-hit model for dystonia after STN-DBS: a clinical feature of Parkinsonian patients causes predisposing altered plasticity contributing to dystonic symptoms development when coupled with the stimulation of dystonia-related subcortical and cortical structures.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3691-3701"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078821","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":"Mortality patterns in patients with type 2 diabetes mellitus and late-onset Alzheimer's disease in the United States: a retrospective analysis from 1999 to 2020.","authors":"Ahmed Raza, Eeshal Fatima, Abu Huraira Bin Gulzar, Mirza Ammar Arshad, Zain Ali Nadeem, Rahman Tanveer, Syed Hashim Ali Inam, Paul Ferguson","doi":"10.1007/s10072-025-08152-4","DOIUrl":"10.1007/s10072-025-08152-4","url":null,"abstract":"<p><strong>Background: </strong>Late-onset AD refers to the occurrence of AD after the age of 65. It is the primary cause of late-onset dementia. Studies indicate that persons diagnosed with diabetes are more susceptible to late-onset AD. Diabetes manifests as insulin resistance, which can have significant effects on cognitive function and contribute to the development of AD.</p><p><strong>Methods: </strong>The CDC WONDER database was used to determine the crude death rates (CR) and age-adjusted mortality rates (AAMRs) per 100,000 individuals, 65 years and above. Joinpoint Regression Program was used to examine the changes in AAMR in the form of annual percent change (APC) and average annual percent change (AAPC).</p><p><strong>Results: </strong>From 1999 to 2020, late-onset AD and diabetes were associated with 185,059 deaths in the older US population, demonstrating an increasing trend (AAPC = 2.87). Females (20.38) had higher AAMR than males (19.62). Non-Hispanic (NH) African Americans experienced the highest AAMR (28.01), while non-Hispanic Asians experienced the lowest (16.09). AAMRs varied by region (West: 23.53, Midwest: 21.51, South: 21.0, Northeast: 13.50). States with the highest AAMR percent change were Nebraska and Louisiana; those with the lowest were Montana and New Hampshire. Most deaths occurred at hospice/nursing facilities (57.96%). Non-metropolitan areas showed a higher mortality burden (25.05) than metropolitan areas (19.02).</p><p><strong>Conclusions: </strong>There was an increasing mortality trend for late-onset AD among the population with diabetes in the US, with high mortality in females, NH African Americans, and the Western region.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3619-3629"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772988","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":"\"Frog face and strangulated medulla\": neuroimaging phenotype in a novel mutation in GFAP gene causing adult onset Alexander disease.","authors":"Sameer Peer, Arvinder Wander, Ramandeep Singh, Vikas Lakhanpal","doi":"10.1007/s10072-025-08161-3","DOIUrl":"10.1007/s10072-025-08161-3","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"4065-4068"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811128","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":"Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.","authors":"Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Yi Wang, Xihua Li, Lifei Yu","doi":"10.1007/s10072-025-08124-8","DOIUrl":"10.1007/s10072-025-08124-8","url":null,"abstract":"<p><strong>Background: </strong>Collagen VI-related disorder (COL6-RD) is an inherited neuromuscular disease characterized by a broad spectrum of phenotypes.</p><p><strong>Patients and methods: </strong>Eight families with autosomal dominant COL6-RD were recruited. Clinical manifestations, laboratory findings, electrophysiological results, molecular analyses, and pathological outcomes of eight index patients and their affected family members were systematically collected and reviewed.</p><p><strong>Results: </strong>Pathogenic variants were identified in four families in the COL6A1 gene, one family in the COL6A2 gene, and three families in the COL6A3 gene. Among the index patients, three were classified as moderate progressive Ullrich congenital muscular dystrophy (UCMD), four exhibited mild UCMD or Bethlem myopathy, and one was diagnosed with Bethlem myopathy. The phenotypic presentation was relatively consistent within four families. However, intra-familial phenotypic variability was observed in four families, encompassing a wide range of onset ages, patterns and degrees of muscle weakness, rates of contracture progression, severity of skin changes, and age at loss of ambulation.</p><p><strong>Conclusion: </strong>Inter- and intra-familial phenotypic variability is prevalent in autosomal dominant COL6-RDs. When predicting the clinical course and severity for patients, it is crucial to integrate a comprehensive set of information, including mutation sites and types, family history, and early presenting features.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3951-3958"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795795","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":"Novel SPR mutation in first Chinese patient with sepiapterin reductase deficiency: urinary biomarker validation in oldest treated case.","authors":"Xiaosheng Zheng, Chenxin Ying, Fei Xie, Zhidong Cen, Wei Luo","doi":"10.1007/s10072-025-08219-2","DOIUrl":"10.1007/s10072-025-08219-2","url":null,"abstract":"<p><strong>Background: </strong>Sepiapterin reductase deficiency (SRD) is a rare disorder characterized by motor and cognitive symptoms, where early diagnosis and treatment can significantly improve patient outcomes.</p><p><strong>Methods: </strong>We performed genetic analysis, functional studies including Western blot and immunocytochemistry, and urinary sepiapterin measurements in a Chinese patient presenting with levodopa-responsive dystonia and parkinsonism.</p><p><strong>Results: </strong>We identified a novel homozygous mutation (c.380 A > T, p.N127I) in the SPR gene. Functional studies demonstrated reduced expression of the mutant protein while maintaining normal subcellular localization, confirming its pathogenicity. Additionally, we detected elevated urinary sepiapterin levels in this patient, who represents the oldest documented case receiving levodopa treatment.</p><p><strong>Conclusions: </strong>This study not only expands the genetic spectrum of SRD but also validates the utility of urinary sepiapterin as a reliable, non-invasive diagnostic biomarker, even in older treated patients.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"4011-4015"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020347","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 diagnosis and communication in functional neurological disorders: a survey among Italian neurologists.","authors":"Vittorio Velucci, Angela Sandri, Mario Zappia, Alfredo Berardelli, Tommaso Ercoli, Laura Tassi, Francesco Brigo, Roberto Erro, Alessandro Padovani, Giovanni Fabbrini, Giovanni Defazio, Michele Tinazzi","doi":"10.1007/s10072-025-08383-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08383-5","url":null,"abstract":"<p><strong>Introduction: </strong>Functional neurological symptom disorder (FND), including functional motor disorders (FMD) and psychogenic non-epileptic seizures (PNES), is a common yet under-recognized condition, often associated with diagnostic uncertainty. This national survey investigated how Italian neurologists apply validated clinical signs and communication strategies in FND diagnosis.</p><p><strong>Methods: </strong>A cross-sectional survey was distributed to approximately 2,700 members of three Italian neurological societies. The questionnaire assessed demographic and professional characteristics, the frequency of use of specific clinical signs for FMD and PNES, and strategies for communicating the diagnosis. Responses were rated on a five-point frequency scale and analyzed using ordinal generalized linear models and Spearman's correlations, adjusting for demographic covariates.</p><p><strong>Results: </strong>A total of 245 neurologists (43.3% general neurologists, 35.9% movement disorder specialists, 20.8% epileptologists) completed the survey. Movement disorder specialists more frequently assessed tremor entrainment and fixed dystonia in FMD, while epileptologists were more likely to assess signs such as eye closure and irregular jerks in PNES. Clinicians with greater experience more frequently evaluated established signs for both FMD and PNES and employed broader communication strategies. Communication practices were largely consistent across subspecialties. Written information was rarely provided across all groups.</p><p><strong>Conclusion: </strong>The application of validated clinical signs and communication strategies for FND varies by subspecialty and clinical experience. While epileptologists and movement disorder specialists demonstrate greater familiarity with signs relevant to their subspecialty, key diagnostic tools for FMD remain underutilized. These findings highlight the need for targeted educational interventions to improve diagnostic accuracy, enhance communication, and optimize care for people with FND.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732444","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 coronavirus disease 2019 in patients with optic neuritis: a single-centre retrospective cohort study.","authors":"Rong Yan, Yanjun Guo, Chao Meng, Xiuyun Kong, Jiawei Wang","doi":"10.1007/s10072-025-08365-7","DOIUrl":"https://doi.org/10.1007/s10072-025-08365-7","url":null,"abstract":"<p><strong>Background: </strong>The relationship between coronavirus disease 2019 (COVID-19) and optic neuritis (ON) remains unclear, with limited evidence on its clinical features and outcomes. This study aimed to investigate the impact of COVID-19 on ON subtypes and prognosis.</p><p><strong>Methods: </strong>We conducted a single-centre retrospective cohort study, comparing acute ON patients with and without recent COVID-19 infection during the omicron wave (December 2022 to January 2023). A historical control group from the pre-COVID-19 era was included for comparison.</p><p><strong>Results: </strong>A total of 55 ON patients were included, of whom 12 had recent COVID-19 infection. COVID-19-associated ON showed a higher incidence of acute disseminated encephalomyelitis-associated ON (ADEM-ON, 25% vs. 0%) and a lower rate of aquaporin-4 antibody-associated ON (AQP4-ON, 0% vs. 31.4%). These patients presented more frequently with eye pain (75%) and respiratory symptoms (60%). At onset, 66.7% experienced severe visual loss (mean logMAR 1.10 ± 0.71), but most (83.3%) achieved good visual recovery (mean logMAR 0.08 ± 0.44) after immunotherapy. Only one relapse was observed during follow-up.</p><p><strong>Conclusions: </strong>COVID-19 may trigger distinct autoimmune processes in ON, particularly increasing ADEM-ON prevalence. Despite initial severe vision loss, outcomes are generally favourable with timely treatment. These findings expand understanding of neuro-ophthalmic complications related to COVID-19.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732445","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}