Neurological Sciences最新文献

{"title":"Lumboperitoneal and ventriculoperitoneal shunting for leptomeningeal disease-associated hydrocephalus: a systematic review and meta-analysis of postoperative outcomes and comparative effectiveness.","authors":"Bardia Hajikarimloo, Ibrahim Mohammadzadeh, Salem M Tos, Ali Mortezaei, Amirmohammad Bahri, Roozbeh Tavanaei, Mohammadhosein Akhlaghpasand, Fatemeh Ghorbanpouryami, Azin Ebrahimi, Dorsa Najari, Ehsan Bahrami Hezaveh, Mohammad Amin Habibi","doi":"10.1007/s10072-025-08321-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08321-5","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476133","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":"https://doi.org/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":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental disorder and juvenile-onset tics associated with microdeletion of the SRRM2 gene.","authors":"Andrea E Cavanna, Virginia Caimi, Elisa Capriolo, Gabriele Arienti, Anna Riva, Renata Nacinovich, Stefano Seri","doi":"10.1007/s10072-025-08318-0","DOIUrl":"10.1007/s10072-025-08318-0","url":null,"abstract":"<p><strong>Background: </strong>SRRM2-related neurodevelopmental disorder is a recently described genetic diagnosis caused by loss-of-function variants. The clinical presentation is characterised by a developmental delay with mild intellectual disability, occasionally associated with features of autism spectrum disorder and/or attention-deficit/hyperactivity disorder, as well as inconsistent dysmorphic features, hypotonia, and obesity.</p><p><strong>Case description: </strong>We document the rare case of a 30-year-old man diagnosed with neurodevelopmental disorder and juvenile-onset tics associated with a microdeletion involving the SRRM2 gene. He initially presented with simple motor and vocal tics in early adulthood and subsequently developed handwriting tics and limb posturing (catatonic tics). Tic severity was rated as moderate-to-marked (Yale Global Tic Severity Scale score of 55/100) and treatment recommendations included alpha-2 agonists.</p><p><strong>Discussion: </strong>To date, a total of 37 cases presenting with loss-of-function mutations in SRRM2 have been reported as neurodevelopmental disease-causing mutations. Of these, 21 were males and none had tics as part of their neurodevelopmental manifestations. Our case report widens the spectrum of neurodevelopmental disorders observed in the context of SRRM2 gene microdeletions and prompts further research to disentangle the contributions of genetic and environmental factors to variable phenotypic expressions.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369019","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":"Unilateral contralesional versus bilateral repetitive transcranial magnetic stimulation for patients with post stroke dysphagia: a randomized controlled study.","authors":"Basem Hamdy Fouda, Ahmed Mostafa Kishk","doi":"10.1007/s10072-025-08298-1","DOIUrl":"https://doi.org/10.1007/s10072-025-08298-1","url":null,"abstract":"<p><strong>Background: </strong>Dysphagia is a frequent and challenging complication after stroke, severely impacting both recovery and quality of life. Conventional rehabilitation approaches often yield limited results, underscoring the need for novel treatments. This work compared the effectiveness of two different repetitive transcranial magnetic stimulation (rTMS) approaches in enhancing swallowing function in post-stroke dysphagia (PSD).</p><p><strong>Methods: </strong>This prospective, randomized, controlled trial was conducted with 60 patients, 18-80 years old, diagnosed with acute ischemic stroke and suffered from PSD. Participants were randomized equally to three groups: Group 1 received bilateral facilitatory rTMS targeting both hemispheres, Group 2 received unilateral facilitatory rTMS on the contralesional hemisphere, and Group 3 received sham rTMS.</p><p><strong>Results: </strong>Motor threshold (MT) scores were similar across the three groups at baseline (date 0). At follow-up, Group 1 showed significantly lower MT scores than Group 3 at dates 1 and 3 (P < 0.05), with no significant difference between Group 2 and Groups 1 and 3. At date 2, Group 1 had significantly lower MT scores than both Groups 2 and 3 (P < 0.05), while scores between Group 2 and Group 3 were comparable. MT was comparable among the groups at date 0, 1, 2, and 3. For the Modified Rankin Scale, at date 3, Groups 1 and 2 had significantly lower scores than Group 3, with no significant difference between Groups 1 and 2.</p><p><strong>Conclusions: </strong>Bilateral facilitatory rTMS is an effective and safe intervention for improving swallowing function in PSD.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476135","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":"Spontaneous remission of dropped head syndrome following short-term bed rest in acute encephalopathy: a case report.","authors":"Gohei Yamada","doi":"10.1007/s10072-025-08313-5","DOIUrl":"10.1007/s10072-025-08313-5","url":null,"abstract":"<p><strong>Background: </strong>Dropped head syndrome is commonly observed in neurodegenerative disorders such as dementia with Lewy bodies. Its underlying causes include neck extensor myopathy and cervical dystonia. However, spontaneous remission of dropped head syndrome is extremely rare.</p><p><strong>Case presentation: </strong>A 70-year-old woman initially presented with a dropped head. One year after her first visit, she developed gait disturbance, bilateral hand bradykinesia, and rigidity of the trunk and all four limbs. Levodopa had a limited effect on both the dropped head and parkinsonism, and was eventually discontinued due to visual hallucinations. Two years and three months after the initial visit, her Mini-Mental State Examination score declined to 22/30, and she was ultimately diagnosed with dementia with Lewy bodies. Three years and two months after the initial visit, she experienced decreased consciousness due to acute encephalopathy associated with cellulitis. After 10 days of bed rest, her consciousness normalized, and she gradually resumed sitting and standing. Remarkably, the dropped head, previously present even before the encephalopathy, was no longer observed in either posture. The remission of dropped head syndrome persisted for over a year.</p><p><strong>Conclusion: </strong>Sustained supine positioning for 10 days may have induced prolonged relaxation of the anterior cervical muscles, functioning as a form of \"prolonged sensory trick,\" thereby modulating the sensorimotor cortex and contributing to the remission of dystonic anterocollis. Furthermore, the restoration of neck extensor muscle strength may have followed the resolution of dystonic anterocollis. This case may offer insight into the mechanisms underlying spontaneous remission in dropped head syndrome.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336765","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":"The impact of Down syndrome on patients' caregivers: a survey of an Italian paediatric cohort.","authors":"Rossana Gnasso, Ayda Tavakkolifar, Giuseppe Esposito, Angela Palomba, Stefano Palermi, Antonio Picone, Carlo Ruosi","doi":"10.1007/s10072-025-08266-9","DOIUrl":"10.1007/s10072-025-08266-9","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333602","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":"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":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-20","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":"Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.","authors":"Merve Koç Yekedüz, Rezzak Yilmaz, Talha Abali, Sema Nur Kibrit, Ahmet Veli Karacan, Elif Yüsra Unutmaz, Gülnur Ayık, Dudu Genç-Batmaz, G Rana Dilek, Binnur Çelik, Emine Gemci, Turgut Şahin, Ahmet Yalcin, Serdar Ceylaner, M Cenk Akbostancı, Fatma Tuba Eminoğlu","doi":"10.1007/s10072-025-08286-5","DOIUrl":"10.1007/s10072-025-08286-5","url":null,"abstract":"<p><strong>Background: </strong>The GBA1 gene has been established as a notable risk factor in Parkinson's disease (PD). While some population-specific variants were reported, many regions of the world remain underexplored. This study investigates the prevalence, types, and clinical associations of GBA1 variants in a large cohort of patients with PD (PwP) from Turkey.</p><p><strong>Methods: </strong>A total of 716 individuals, including 513 PwP and 203 healthy controls (HC), were evaluated. Genetic analysis of GBA1 variants was performed using nextgeneration sequencing. Additionally, whole exome sequencing (WES) was conducted on participants with detected GBA1 variants. Clinical data, including motor, non-motor, and quality of life assessments, were collected. Enzyme and substrate levels were measured from dry blood spot samples.</p><p><strong>Results: </strong>GBA1 variants were found in 13.2% of PD patients, significantly higher than in HC (6.4%), corresponding to an average 2.2-fold higher prevalence. The most frequent variants were p.T369M, p.L444P, and p.N370S. Additionally, 15 variants not previously reported in PD were detected. Patients with pathogenic variants had an earlier age of onset including a higher levodopa-equivalent daily dose and motor complications. Enzyme and substrate levels did not differ significantly between the groups. In one patient, WES data showed a CTSB variant which was reported to modify the effects of GBA1.</p><p><strong>Conclusion: </strong>This is the largest study revealing prevalence of GBA1 variants among PwP in Turkey, with significant clinical implications. The findings enrich the literature by expanding the previously unknown landscape of GBA1 variants in this region.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336764","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":"Critical insights on changes in circulating pro-inflammatory lymphocytes and cortical excitability with extended-interval natalizumab dosing in multiple sclerosis.","authors":"Syed Ahmad Farooqi, Sadia Siddique, Umair Ali, Adil Momand, Ali Sina Hajizada, Hari Vishal Nenwani","doi":"10.1007/s10072-025-08282-9","DOIUrl":"10.1007/s10072-025-08282-9","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333600","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":"Co-occurence of amyotrophic lateral sclerosis and sarcoidosis: a case report and systematic review of the literature.","authors":"Luigi Bonan, Marcello Bombardi, Andrea Di Lionardo, Maria Vitiello, Simonetta Morresi, Marco Longoni","doi":"10.1007/s10072-025-08299-0","DOIUrl":"10.1007/s10072-025-08299-0","url":null,"abstract":"<p><strong>Background: </strong>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting motor neurons, with 90% of cases being sporadic. Sarcoidosis is an inflammatory disease affecting multiple organs, with neurological complications occurring in 5-10% of patients. Only isolated cases of this extremely rare combination of the two diseases have been reported.</p><p><strong>Methods: </strong>We present the case of a 45-year-old man diagnosed with ALS after a 2-year history of progressive upper limb weakness who was incidentally found to be affected by thoraco-abdominal lymphadenopathy. The biopsy confirmed the co-presence of sarcoidosis. We also make a systematic review of the literature of this rare combination.</p><p><strong>Results: </strong>The patient showed stabilization of the neurological condition and the pneumological disease after administration of immunosuppressive treatment.</p><p><strong>Conclusion: </strong>Our case report and literature review highlight peculiar clinical characteristics of this extremely rare combination of diseases, deepening the understanding of this peculiar phenotype.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333599","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}