Neurological Sciences最新文献

{"title":"The relationship between occupation and specific forms of idiopathic adult-onset dystonia.","authors":"Vittorio Velucci, Luigi Di Lorenzo, Roberto Erro, Ilaria Maria Di Somma, Marcello Esposito, Assunta Trinchillo, Daniele Belvisi, Giovanni Fabbrini, Gina Ferrazzano, Sarah Idrissi, Roberta Pellicciari, Laura Avanzino, Francesca Di Biasio, Carmen Terranova, Vincenzo Rizzo, Anna Castagna, Marina Ramella, Francesco Bono, Maria Paola Barillari, Maria Concetta Altavista, Luigi Polidori, Christian Lettieri, Carlo Alberto Artusi, Cesa Lorella Maria Scaglione, Pierangelo Barbero, Mario Coletti Moja, Luca Magistrelli, Martina Petracca, Roberto Ceravolo, Giovanni Cossu, Tommaso Schirinzi, Giovanna Maddalena Squintani, Angelo Fabio Gigante, Antonella Muroni, Tommaso Ercoli, Marcello Mario Mascia, Alfredo Berardelli, Giovanni Defazio","doi":"10.1007/s10072-025-08303-7","DOIUrl":"10.1007/s10072-025-08303-7","url":null,"abstract":"<p><strong>Background: </strong>The development of idiopathic adult-onset dystonia (IAOD) in different body parts is associated with specific demographic and clinical characteristics, as well as with specific risk factors.</p><p><strong>Objective: </strong>To investigate whether specific occupations are associated with specific forms of IAOD at onset, namely blepharospasm (BSP), cervical dystonia (CD), and task-specific upper limb dystonia (TS-ULD).</p><p><strong>Methods: </strong>Data from 905 IAOD patients enrolled in the Italian Dystonia Registry were analysed. Each patient was assigned to the corresponding occupational category by specialists in occupational medicine according to the classification of the Italian National Institute of Statistics. Logistic regression models (adjusted for sex, year of birth, Italian geographical areas, and age at dystonia onset) were computed to assess the association between occupation and specific dystonia at onset, using patients who developed focal dystonia in other body parts as controls.</p><p><strong>Results: </strong>Compared to other occupations, trades workers exhibited an increased risk for BSP at onset (OR = 2.6, 95% CI 1.6-4.2), cleaners for CD (OR = 3.4, 95% CI 1.2-9.9), and musicians for TS-ULD (OR = 36.3, 95% CI 11.3-117.1). The longer the duration of employment before the onset of dystonia, the greater the risk of dystonia.</p><p><strong>Conclusions: </strong>We provided novel information indicating that exposure to specific occupations may trigger specific forms of IAOD, namely BSP, CD, and TS-ULD. The associations highlighted by this study may reflect a common pathophysiological mechanism relying on the frequent performance of repetitive movements in a specific body part.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5111-5121"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333611","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":"Response to letter to the editor regarding \"The effects of transcranial magnetic stimulation in motor symptoms of Parkinson's disease: an overview of systematic reviews with meta-analysis\".","authors":"Daniele Conte","doi":"10.1007/s10072-025-08310-8","DOIUrl":"10.1007/s10072-025-08310-8","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5481-5482"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285807","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 insights on \"Case series of functional non epileptic seizures (PNES) in patients with brain tumors\".","authors":"Sakan Binte Imran, Noor Un Nisa Irshad, Ashok Kumar Lohana, Aveena Lohana, Adarsh Shahani, Maheen Masood","doi":"10.1007/s10072-025-08341-1","DOIUrl":"10.1007/s10072-025-08341-1","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5551-5552"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591806","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":"Pyomyositis clinically mimicking inflammatory myopathies in a patient presenting with proximal weakness in the upper and lower limbs.","authors":"Seyma Aykac, Abdullah Arı, Fikret Bademkıran, Figen Gokcay","doi":"10.1007/s10072-025-08323-3","DOIUrl":"10.1007/s10072-025-08323-3","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5565-5566"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497546","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":"Adult-onset Huntington's disease with unusual presentation of dopa-responsive lower limb dystonia.","authors":"Sang-Won Yoo, Joong-Seok Kim","doi":"10.1007/s10072-025-08324-2","DOIUrl":"10.1007/s10072-025-08324-2","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5483-5485"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476131","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 MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.","authors":"Cong Zhou, Feng Tang, Xihan Wang, Jingqun Mai, Rui Li, Jing Wang","doi":"10.1007/s10072-025-08396-0","DOIUrl":"10.1007/s10072-025-08396-0","url":null,"abstract":"<p><strong>Background: </strong>Periventricular nodular heterotopia 9 (PVNH9) arises from defective neuronal migration, which leads to the accumulation of ectopic neurons near the lateral ventricle. PVNH9 is caused by a heterozygous mutation in the microtubule-associated protein 1B (MAP1B) gene.</p><p><strong>Methods: </strong>We report a PVNH9 family with a MAP1B variant. Trio whole-exome sequencing (WES) was performed to investigate the underlying genetic defects of the family. In vitro functional experiments, including messenger RNA (mRNA) splicing validation, quantitative polymerase chain reaction (qPCR) and western-blotting, were performed to determine the pathogenicity of the novel variant of MAP1B.</p><p><strong>Results: </strong>WES showed that both the patient and her father carried a heterozygous MAP1B variant (c.7091 dup). Sanger sequencing confirmed that this variant occurred de novo in the father. In vitro functional experiments, mRNA splicing verification indicated normal splicing for both wild-type and mutant types. The qPCR and western blot analyses demonstrated significantly reduced mRNA and protein expression, respectively, in the mutant compared with that in the wild-type. Additionally, by comprehensive summary on genotype-phenotype associations of MAP1B in previously reported literatures, we found that loss-of-function (LOF) variants in MAP1B mainly lead to PVNH-related neurological symptoms, while patients with missense variants may only present with deafness.</p><p><strong>Conclusions: </strong>We clarified the genetic diagnosis for the family. Additionally, this study reveals a novel LOF variant in MAP1B and provides a comprehensive overview of MAP1B genotype and phenotype, aiding in the diagnosis and genetic counseling.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5341-5350"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835861","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":"Caregiver burden in Parkinson's disease: a nationwide observational survey.","authors":"Giulia Donzuso, Paolo Brunelli, Giangi Milesi, Silvia Mancini, Francesca Martillotti, Calogero Edoardo Cicero, Michele Tinazzi, Mario Zappia","doi":"10.1007/s10072-025-08306-4","DOIUrl":"10.1007/s10072-025-08306-4","url":null,"abstract":"<p><strong>Background: </strong>Caregivers play an important role in Parkinson's disease (PD), especially in the advanced stages. Aim of this study is to evaluate the caregiver burden of PD in an Italian sample of caregivers.</p><p><strong>Materials and methods: </strong>An online anonymous survey was conducted among Italian caregivers funded by \"Fondazione LIMPE per il Parkinson ONLUS\" and \"Confederazione Parkinson Italia\". The survey encompassed several dimensions (i.e. caregiving, work, economic and personal health) related to caregivers' activities and patients' characteristics.</p><p><strong>Results: </strong>The survey was completed by 478 caregivers, 361 were women (75%), and the majority had an age included between 55 and 70 years old (46.4%). The burden of assistance increased from 1 to 2 days weekly in the first period of the disease to all the weekly days with the progression of the disease. 15% of caregivers reported not working because of assistance, and among caregivers who were still working, almost 70% reported at least one working day lost monthly due to caregiving activities. Concerning health, most caregivers reported an impact on health due to the assistance, in terms of \"excessive tiredness\" (74.6%), and \"lack of sleep\" (60.5%) as the most impacting disturbances. Considering gender, women caregivers reported that they could not work due to the assistance and complained a higher impact on health than men caregivers.</p><p><strong>Conclusion: </strong>Caregivers of PD patients experienced and reported the presence of caregiver burden in several domains. Additionally, a gender-related pattern was present suggesting the need of a customized support to enhance awareness and minimizing caregiver burden.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5093-5103"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476132","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":"Left inferior temporal hemorrhage due to cerebral amyloid angiopathy mimicking semantic dementia.","authors":"Kazuto Katsuse, Daiki Yashita, Kazuo Kakinuma, Masashi Hamada, Tatsushi Toda, Kyoko Suzuki","doi":"10.1007/s10072-025-08358-6","DOIUrl":"10.1007/s10072-025-08358-6","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5523-5527"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608927","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":"Incidence, prevalence and mortality of Parkinson's disease in Greece.","authors":"George Makris, Evangelia Samoli, Gregory Chlouverakis, Cleanthe Spanaki","doi":"10.1007/s10072-025-08297-2","DOIUrl":"10.1007/s10072-025-08297-2","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5027-5034"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619407","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":"Efficacy of various acupuncture modalities on alleviating symptoms in Parkinson's disease: a systematic review and meta-analysis of randomized controlled trials.","authors":"Peihao Yu, Guiqian Wang, Sanchun Tan, Mingming Zhan, Yiwei Zheng, Wei Zhou, Hanzhang Li, Jun Ma","doi":"10.1007/s10072-025-08333-1","DOIUrl":"10.1007/s10072-025-08333-1","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is a progressive neurological condition, that often respond poorly to conventional treatments. Acupuncture has gained attention as a supportive therapy, but the clinical effects of its various modalities remain insufficiently defined. This study examined the therapeutic efficacy of different acupuncture approaches in managing symptoms of PD.</p><p><strong>Methods: </strong>The meta-analysis and systematic review was carried out in accordance with PRISMA 2020 guidelines and registered in PROSPERO (CRD42024627483). Randomized controlled trials (RCTs) assessing acupuncture modalities combined with standard PD therapy was encompassed. The Cochrane RoB 2 tool was utilized to figure out the risk of bias, and subgroup/meta-regression analyses explored heterogeneity. Evidence certainty was rated using the GRADE framework.</p><p><strong>Results: </strong>In 50 RCTs (n = 3,248), acupuncture significantly outperformed Western medicine across all UPDRS domains, with the strongest effect on treatment-related motor complications (SMD: -2.16; 95% CI: -3.10 to -1.22). It also improved quality of life, pain, sleep, depression, and anxiety. Optimal results were linked to ≥ 10 acupoints, moderate session duration, and thrice-weekly treatment. Among all modalities, electroacupuncture showed the highest overall efficacy. Thinner needles worked better for non-motor symptoms; thicker ones favored motor outcomes. No serious adverse events occurred; mild effects were rare and transient.</p><p><strong>Conclusions: </strong>This comprehensive analysis highlights acupuncture-especially electroacupuncture-as a clinically valuable adjunct to standard PD therapy. Its benefits across motor, non-motor, and psychological domains, when delivered with optimized parameters, suggest a strong case for its integration into personalized PD management strategies.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"4819-4835"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144649984","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}