Neurological Sciences最新文献

{"title":"Translation and cultural adaptation of Rowland universal dementia assessment scale (RUDAS) and European cross-cultural neuropsychological test battery (CNTB) into Italian.","authors":"I Cova, G Maestri, A Forgione, M Canevelli, C Calia, V Leta, S Pomati, L Pantoni","doi":"10.1007/s10072-026-09065-6","DOIUrl":"https://doi.org/10.1007/s10072-026-09065-6","url":null,"abstract":"<p><strong>Background: </strong>An increasing number of Culturally and Linguistically Diverse (CALD) patients have sought cognitive assessment in Italian Centers for Cognitive Disorders and Dementia (CCDDs) in recent years; however, validated cross-cultural cognitive tools in Italian remain limited. The Rowland Universal Dementia Assessment Scale (RUDAS) and the European Cross-Cultural Neuropsychological Test Battery (CNTB) were developed to minimize linguistic and cultural bias.</p><p><strong>Objective: </strong>To translate and culturally adapt the RUDAS and CNTB into Italian for use in Italian CCDDs, both with native Italian speakers and with CALD patients assessed via trained cultural mediators.</p><p><strong>Methods: </strong>A step-by-step methodology was applied: forward translation, synthesis I, blind backward translation, synthesis II, and cognitive debriefing. Two bilingual and bicultural translator pairs completed the translations. Pre-final versions were tested in 40 monolingual Italian participants (8 mild cognitive impairment, 8 dementia, 24 healthy controls; mean age 71.4 ± 10.1 years; mean education 9.9 ± 3.8 years). The purpose of this phase was exclusively to evaluate comprehensibility, conceptual clarity, and cultural appropriateness; no psychometric or normative analyses were performed. Two subtests of CNTB could not be translated due to copyright restrictions.</p><p><strong>Results: </strong>Only minor adaptations were necessary. In the RUDAS memory item, \"tea\" was replaced with \"coffee\" and \"cooking oil\" with \"olive oil,\" reflecting Italian cultural familiarity. Within the CNTB, only the Enhanced Cued Recall Task and Serial Threes required clarification.</p><p><strong>Conclusion: </strong>The Italian versions of the RUDAS and CNTB required minimal adaptation. Future studies should assess psychometric properties, diagnostic accuracy, and normative performance in both native Italian and CALD populations.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840999","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":"Acquired spontaneous periodic hypothermia and pancytopenia secondary to hypothalamic compression from a large skull base meningioma.","authors":"Sagar Jolly, Bilal Ali, Rishabh Jain, Shashank Paliwal, Sreerashmi Sasikumar, Delatre Lolo","doi":"10.1007/s10072-026-09059-4","DOIUrl":"10.1007/s10072-026-09059-4","url":null,"abstract":"<p><p>A 69-year-old woman with a recurrent skull-base meningioma developed recurrent hypothermia during rehabilitation, initially misattributed to infection. Episodes followed a circadian pattern and were associated with delirium, pancytopenia, and signs of central endocrine dysfunction. MRI showed a large meningioma compressing the hypothalamus with an intact corpus callosum. Infection and adrenal insufficiency were excluded. Hypothermia resolved with external warming, and pancytopenia normalized spontaneously. Subclinical hypothyroidism and central hypogonadism were noted, consistent with hypothalamic-pituitary axis involvement. These findings supported a diagnosis of acquired spontaneous periodic hypothermia (SPH) due to hypothalamic compression. This case illustrates that early recognition of SPH in patients with skull-base tumors can prevent misdiagnosis and guide appropriate supportive care and monitoring.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13149600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840890","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":"Reliability and construct validity of the Italian version of AMAT scale in SBMA subjects.","authors":"Elisabetta Pupillo, Elisa Bianchi, Maurizio A Leone, Sabrina Paganoni, Alberto Romito, Federica Paredi, Giacomo Maria Minicuci, Gianni Sorarù","doi":"10.1007/s10072-026-09052-x","DOIUrl":"10.1007/s10072-026-09052-x","url":null,"abstract":"<p><strong>Background: </strong>Spinal and Bulbar Muscular Atrophy (SBMA) is a rare X-linked polyglutamine disorder characterized by a CAG trinucleotide repeat expansion in the androgen receptor gene. This leads to progressive lower motor neuron degeneration and skeletal muscle atrophy. Given the need for sensitive outcome measures in clinical trials, this study aimed to perform the linguistic adaptation and psychometric validation of the Adult Myopathy Assessment Tool (AMAT) for the Italian population.</p><p><strong>Methods: </strong>Following a rigorous forward-back translation protocol to ensure semantic and conceptual equivalence, the Italian AMAT was administered to 29 patients. The validation process assessed internal consistency (Cronbach's alpha), inter-rater and intra-rater reliability, and construct validity. The latter was evaluated through correlations with established clinical markers, including the Six-Minute Walk Test (6MWT), the SBMA Functional Rating Scale (SBMAFRS), and the ALSAQ-40 scale.</p><p><strong>Results: </strong>Psychometric analysis revealed excellent inter- and intra-rater reliability and strong internal consistency (Cronbach's alpha > 0.70). Construct validity was confirmed through significant correlations with established functional markers, including the six-minute walk test (6MWT) and the SBMA Functional Rating Scale (SBMAFRS), while the expected negative correlations with ALSAQ-40 scale physical domains-coupled with a lack of correlation with the communication domain-affirmed divergent validity.</p><p><strong>Conclusions: </strong>The Italian version of the AMAT is a reliable and valid instrument for quantifying functional impairment and endurance in SBMA. Its implementation facilitates standardized longitudinal assessment and enhances the feasibility of cross-national collaborative research.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13135011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147818292","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":"Multicenter validation of the Italian Pain in Dystonia Scale in idiopathic adult-onset cervical dystonia.","authors":"Antonella Muroni, Vittorio Velucci, Davide Martino, Marcello Mario Mascia, Daniele Belvisi, Francesco Marchet, Laura Avanzino, Roberta Marchese, Roberto Erro, Paola Della Valle, Lucio Marinelli, Flavio Villani, Antonio Pisani, Francesca Valentino, Salvatore Misceo, Anna Castagna, Francesco Bono, Giovanni Cossu, Carlo Alberto Artusi, Carmen Terranova, Martina Petracca, Nicola Tambasco, Giovanni Defazio, Veronica Bruno","doi":"10.1007/s10072-026-09067-4","DOIUrl":"10.1007/s10072-026-09067-4","url":null,"abstract":"<p><strong>Background: </strong>The Pain in Dystonia Scale (PIDS) is a self-administered instrument to assess pain in dystonia, validated in cervical dystonia (CD).</p><p><strong>Objective: </strong>To translate and culturally adapt the PIDS into Italian following a standardized forward-backward procedure and to validate the resulting Italian version (I-PIDS) in patients with idiopathic adult-onset CD as part of a multicenter effort aimed at evaluating its clinimetric properties across dystonia subtypes.</p><p><strong>Methods: </strong>I-PIDS was completed by 64 Italian patients with cervical dystonia from 16 centers, three months or more after their last botulinum toxin treatment. Standard clinimetric analyses were performed.</p><p><strong>Results: </strong>Acceptability was optimal, with no missing data. Score distributions met expected criteria, with mean-median differences <10% of the maximum score for all body regions except the jaw, and no floor or ceiling effects. Internal consistency was satisfactory for all pain regions (α = 0.81-0.91) and for functional impact (α = 0.83) and modulating factors (α = 0.73-0.74). Convergent validity was demonstrated by a moderate correlation between neck pain scores and the Global Dystonia Rating Scale (r = 0.39, p = 0.03), while divergent validity was supported by the absence of correlation with the Montreal Cognitive Assessment (r = 0.02, p = 0.90). Exploratory analyses suggested that pain severity in CD was not associated with age, sex, education, age at onset, or dystonia duration, and that pain frequently involved multiple body regions, independently of dystonia distribution.</p><p><strong>Conclusions: </strong>These findings support the validity of I-PIDS and provide further insight into the pattern of pain in CD.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147818303","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":"Biallelic SYNJ1 Variants in a patient with multiple system atrophy mimic syndrome.","authors":"Yiying Zhang, Yixin Kang, Xiaosheng Zheng, Haotian Wang, Zhidong Cen, Wei Luo","doi":"10.1007/s10072-026-09057-6","DOIUrl":"10.1007/s10072-026-09057-6","url":null,"abstract":"<p><strong>Background: </strong>Biallelic variants in SYNJ1 were initially identified in early-onset Parkinson's disease, often accompanied by atypical neurological manifestations. However, their occurrence in patients with a multiple system atrophy-mimicking phenotype has not been well described.</p><p><strong>Methods: </strong>A 71-year-old Chinese woman with gradually worsening motor and autonomic symptoms was assessed. The evaluation included clinical examination, genetic testing, and functional studies.</p><p><strong>Results: </strong>The patient exhibited gait instability, cerebellar ataxia, parkinsonism, urinary autonomic dysfunction, and poor levodopa responsiveness. Genetic analysis identified novel compound heterozygous SYNJ1 variants (c.1574 A > G and c.142G > T). Functional assays evaluating each variant individually showed reduced synaptojanin-1 abundance without altered localization.</p><p><strong>Conclusions: </strong>This case expands the clinical context in which biallelic SYNJ1 variants may be implicated and suggests that SYNJ1 analysis could be considered in atypical parkinsonism with cerebellar dysfunction.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147818246","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":"Risk factors and visual outcomes for postoperative optic neuropathy following pituitary adenoma surgery: a multicenter retrospective cohort study.","authors":"Ruiyi Jiang, Xingzhi Liu, Jun Lei, Min Li, Seidu A Richard, Zhigang Lan","doi":"10.1007/s10072-026-09071-8","DOIUrl":"10.1007/s10072-026-09071-8","url":null,"abstract":"<p><strong>Introduction: </strong>Pituitary adenomas are common intracranial neoplasms and postoperative optic neuropathy (PON) is a severe and potentially irreversible complication of pituitary adenoma surgery.</p><p><strong>Objective: </strong>PON is a devastating complication of pituitary adenoma surgery, leading to irreversible visual loss in severe cases. This multicenter retrospective cohort study aimed to investigate the incidence, independent risk factors, and prognostic factors of PON after pituitary adenoma resection.</p><p><strong>Methods: </strong>We retrospectively analyzed clinical data of 2000 patients who underwent pituitary adenoma surgery at 5 tertiary hospitals between 2015 and 2023. Baseline characteristics, tumor imaging features, surgical details, postoperative complications, and follow-up data were collected.</p><p><strong>Results: </strong>The overall incidence of PON was 3.2% (64 cases), with a significantly lower incidence in the transsphenoidal surgery group (2.5%, 42/1680) than in the craniotomy group (5.8%, 22/380; χ² = 4.12, p = 0.043). We observed that 82% of PON cases occurred within 24 h postoperatively, presenting as sudden visual acuity decline (65%) or visual field defect (35%). Micro-adenomas (< 1 cm) constituted ~ 8% of the cohort, however, they did not develop PON. Reoperation was not associated with PON risk (OR = 1.32, 95% CI: 0.58-2.99, p = 0.312). Hardy-Wilson Grade II/III + Type D (OR = 2.92, 95% CI = 1.58-5.42, p < 0.001) and Grade III/IV + Type E (OR = 2.56, 95% CI = 1.21-5.42, p = 0.014) as well as intraoperative cerebrospinal fluid (CSF) leakage (OR = 2.15, 95% CI: 1.28-3.62, p = 0.003) are independent risk factors for PON.</p><p><strong>Conclusions: </strong>Transsphenoidal surgery is associated with a lower risk of PON compared to craniotomy for pituitary adenomas. Hardy-Wilson Grade II/III + Type D and Grade III/IV + Type E as well as intraoperative CSF leakage are independent risk factors for PON.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147818300","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":"When treatment becomes a challenge: myasthenia gravis in a patient with Meige syndrome.","authors":"Burak Geçer, Şule Bilen","doi":"10.1007/s10072-026-09072-7","DOIUrl":"10.1007/s10072-026-09072-7","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777203","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":"Disrupted emotion-memory interactions in behavioral variant frontotemporal dementia.","authors":"Mohamad El Haj, Guillaume Chapelet, Souheil Hallit, Claire Boutoleau-Bretonnière","doi":"10.1007/s10072-026-09066-5","DOIUrl":"10.1007/s10072-026-09066-5","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147776935","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":"A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy.","authors":"Qian Sun, Qiong-Qiong Li, Hai-Yan Lyu, Chun-Ni Guo, Lin-Yuan Zhang","doi":"10.1007/s10072-026-09060-x","DOIUrl":"10.1007/s10072-026-09060-x","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147776401","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":"Slowly progressive amyotrophic lateral sclerosis associated with a rare SOD1 Pro67Arg mutation: a case report.","authors":"Nan Hu, Mingsheng Liu, Liying Cui","doi":"10.1007/s10072-026-09051-y","DOIUrl":"10.1007/s10072-026-09051-y","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777188","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}