Neurological Sciences最新文献

{"title":"Intrathecal treatment of Anti-N-Methyl-D-Aspartate receptor encephalitis: a promising approach for refractory cases.","authors":"Xiaobo Yang","doi":"10.1007/s10072-025-08134-6","DOIUrl":"https://doi.org/10.1007/s10072-025-08134-6","url":null,"abstract":"<p><strong>Background: </strong>Anti-N-methyl-D-aspartate receptor encephalitis is a severe neurological disorder. While standard treatments work for many patients, up to 25% are resistant to these treatments. In such challenging cases, there is growing interest in using intrathecal approaches.</p><p><strong>Methods: </strong>A narrative review of relevant papers was conducted.</p><p><strong>Results: </strong>Case reports and case series have demonstrated the successful use of intrathecal methotrexate, either alone or in combination with steroids, particularly in pediatric patients. Additionally, intrathecal rituximab has shown promise in select cases.</p><p><strong>Conclusions: </strong>Although outcomes vary, this approach appears to be safe and has the potential to rescue refractory cases.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699593","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":"Bilateral optic neuropathy as first neurological sign of Central Nervous System (CNS) involvement in indolent chronic lymphocytic leukemia.","authors":"Paola Ciasca, Sebastiano Crisafulli, Ludovica Gargiulo, Stefania Bianchi Marzoli, Massimo Magagnoli, Marco Moscatelli, Elena Anghileri","doi":"10.1007/s10072-025-08118-6","DOIUrl":"https://doi.org/10.1007/s10072-025-08118-6","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710841","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":"Efgartigimod improves non-AChR generalized Myasthenia Gravis: a real world experience.","authors":"Carlo Antozzi, Rita Frangiamore, Elena Rinaldi, Fiammetta Vanoli, Francesca Andreetta, Eleonora Giacopuzzi Grigoli, Emilio Ciusani, Silvia Bonanno, Lorenzo Maggi, Renato Mantegazza","doi":"10.1007/s10072-025-08096-9","DOIUrl":"https://doi.org/10.1007/s10072-025-08096-9","url":null,"abstract":"<p><strong>Introduction: </strong>The neonatal Fc receptor (FcRn) inhibitor Efgartigimod (EFG) has been approved for treatment of generalized Myasthenia Gravis (gMG) with anti-AChR antibodies. Information on the effect of EFG in non-AChR MG is limited. We investigated the efficacy of EFG in non-AChR gMG along a clinical follow-up of 2 years.</p><p><strong>Methods: </strong>We treated 13 patients with gMG without anti-AChR antibodies: 5 MuSK+, 2 LRP4 + and 6 triple-negative (confirmed by live CBA). EFG was administered according to the GENERATIVE protocol (consisting of a Fixed period of 2 treatment cycles of 4 infusions at weekly intervals, followed by a Flexible period during which EFG was given in case of initial worsening) starting from November 2021. Outcomes were evaluated by means of the MG-ADL, QMG, MGC and MGQoL15r scales.</p><p><strong>Results: </strong>The mean follow-up was 21 ± 5.3 months. Meaningful improvement was observed with the clinical scores adopted. The number of cycles/year was 3.92 ± 0.9. The interval between cycles was 10.1 ± 3.6 weeks. MG-ADL improvement of at least 5 points was recorded in 58% of cycles. 46% of patients required hospitalization during the two years before treament with EFG and 70% plasmaexchange/IVIG; during EFG none of the patients was hospitalized or required immunomodulation. No major side effects or infusion related reactions occurred.</p><p><strong>Conclusion: </strong>EFG was effective in non-AChR gMG and modified significantly the course of the disease. Our experience strengthens the role of FcRn inhibition as a new therapeutic tool for MG without anti-AChR antibodies.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701194","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":"Correction to: Neurology and physician-assisted suicide: position of the Italian society of neurology.","authors":"Eugenio Pucci, Nicola Ticozzi, Giancarlo Comi, Gianluigi Mancardi, Leandro Provinciali, Alessandro Padovani, Alessandra Solari","doi":"10.1007/s10072-025-08122-w","DOIUrl":"10.1007/s10072-025-08122-w","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701190","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":"Distinct cerebral perfusion patterns and linguistic profiles in Alzheimer's disease-related primary progressive aphasia.","authors":"Kazuto Katsuse, Kazuo Kakinuma, Nobuko Kawakami, Shoko Ota, Nanayo Ogawa, Ai Kawamura, Chifumi Iseki, Masashi Hamada, Tatsushi Toda, Minoru Matsuda, Shigenori Kanno, Kyoko Suzuki","doi":"10.1007/s10072-025-08100-2","DOIUrl":"https://doi.org/10.1007/s10072-025-08100-2","url":null,"abstract":"<p><p>Alzheimer's disease (AD)-related primary progressive aphasia (PPA) exhibits considerable heterogeneity in clinical presentation and neuroimaging patterns. No studies have quantitatively assessed cerebral perfusion patterns or systematically evaluated the internal heterogeneity of linguistic and neuroimaging features in this population. This study aimed to investigate cerebral hypoperfusion patterns and elucidate their correlation with diverse linguistic features in patients with AD-related PPA using a data-driven approach. Eleven patients with AD-related PPA and 34 with non-AD-related PPA were categorized based on cerebrospinal fluid biomarkers, and their single-photon emission computed tomography (SPECT) data were analyzed. Cerebral hypoperfusion was assessed across 56 regions of interest (ROIs) covering the entire cerebral hemisphere. Sparse principal component (sPC) analysis was performed on the AD-related PPA group to identify distinct patterns of cerebral perfusion reduction and correlate these components with clinical assessments of linguistic abilities. AD-derived sPCs were identified, reflecting hypoperfusion patterns in the left temporoparietal, frontal, and temporal pole regions, corresponding to regions typically associated with logopenic, nonfluent, and semantic variants. In both AD-PPA and non-AD-PPA, the sPC corresponding to the anterior temporal region was associated with semantic comprehension deficits, whereas that corresponding to the frontal region was linked to nonfluent speech and Kana writing impairment. sPC-based hierarchical clustering revealed clusters corresponding to logopenic, nonfluent, and semantic variants, with the anomic subtype distinguished from logopenic PPA. AD-positive cases were distributed across these clusters, emphasizing AD-PPA heterogeneity. These findings suggested that AD-related PPA heterogeneity is reflected in distinct cerebral perfusion patterns, which correlate with varying linguistic deficits.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701192","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":"Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).","authors":"Parsa Soleimani, Mana Khojasteh, Aida Ghasemi, Ali Heshmati, Mohammad Rohani, Afagh Alavi","doi":"10.1007/s10072-025-08105-x","DOIUrl":"https://doi.org/10.1007/s10072-025-08105-x","url":null,"abstract":"<p><strong>Introduction: </strong>Mutations in myogenesis regulating glycosidase (MYORG), result in autosomal recessive (AR) form of Primary Familial Brain Calcification (PFBC) which is a rare neurodegenerative disease. PFBC is characterized by symmetric brain calcifications, particularly in the thalami, cerebellum, basal ganglia, and subcortical white matter. To date, eight genes have been linked with PFBC, however, currently about half of people with PFBC remain without a genetic diagnosis. Among these genes, MYORG, JAM2, CMPK2, and NAA60 are associated with an AR-PFBC. Within AR-PFBCs, the frequency of mutations in MYORG and JAM2 is 13% and 2%, respectively. In this study, we present a comprehensive clinical and genetic analysis of a group of Iranian PFBC patients.</p><p><strong>Methods: </strong>Clinical and paraclinical assessments of all patients were done. Whole-exome sequencing was performed for all probands. Candidate variants were confirmed and checked in their family members.</p><p><strong>Results: </strong>Four homozygous variants in MYORG across four families were identified: two novel variants, c.1727G > A;p.Arg576His and c.1687del;p.The563Glnfs*191, in two families and two known mutations, c.176G > A;p.Gly59Asp and c.1092_1097del;p.Phe365_Asp366del in the remaining two families. A potential SNV/CNV in the PFBC-related genes that causes disease was not detected in one proband.</p><p><strong>Conclusion: </strong>Our study expanded the clinical features and mutation spectrum of MYORG and emphasizes to genetic heterogeneity in different populations. While SLC20A2 mutations are the common cause of PFBC in other populations, MYORG and JAM2 mutations seem to be the main cause of this disease in Iran. This issue could prove to be advantageous in the process of gene prioritization for screening within this specific population.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692813","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":"Are there any differences between adult-onset cerebellitis and childhood cerebellitis?","authors":"Rahşan Göçmen, Bahar Gülmez, Onur Ege Tarı, Aslı Tuncer","doi":"10.1007/s10072-025-08127-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08127-5","url":null,"abstract":"<p><p>Acute cerebellitis (AC), a rare inflammatory disorder of the cerebellum, is primarily associated with infectious, post-infectious, and autoimmune mechanisms. It predominantly affects children and typically follows a benign and self-limited course. This study, the largest case series to date focusing exclusively on adult-onset AC, reveals distinct clinical, laboratory, and imaging characteristics compared to the pediatric AC literature. We included 16 patients (mean age of 39.5 years) who met the clinico-radiological features of AC. The causes of AC in this study were varied, encompassing paraneoplastic, post-infectious, infectious, anti-GAD-related, and hemophagocytic lymphohistiocytosis etiologies. The most common symptoms were altered consciousness, dysarthria, ataxia, vomiting, fever, headache and seizures. All cases showed bilateral cerebellar involvement on MRI, predominantly affecting the cerebellar cortex. Hemorrhage within cerebellar lesions was observed in three patients. Outcomes were often severe, with 56% of patients experiencing severe sequelae and 31% mortality. This study highlights the distinct characteristics and potential for severe outcomes in adult AC, emphasizing the need for a comprehensive diagnostic approach.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676929","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":"Non-invasive brain stimulation for treating visual defects: a systematic review and meta-analysis.","authors":"Ahmed W Abbas, Heba Aboeldahab, Mohamed Abo Zeid, Amr K Hassan, Mahmoud Diaa Hindawi, Amr Elrosasy, Safia Lorabi, Yousef Hawas, Benyameen Safwat","doi":"10.1007/s10072-025-08069-y","DOIUrl":"https://doi.org/10.1007/s10072-025-08069-y","url":null,"abstract":"<p><strong>Objective: </strong>We evaluated the efficacy of applying repetitive transorbital alternating current stimulation (rTACS) to patients suffering from visual defects, especially homonymous hemianopia.</p><p><strong>Background: </strong>Stroke or optic neuropathy would result in vision loss or Visual field defect (VFD) and homonymous hemianopia. Recently, one of the commonly used procedures to relieve VFD is non-invasive brain stimulation (NIBS).</p><p><strong>Methods: </strong>A comprehensive search covering publications in PubMed, Embase, Cochrane, and Scopus, spanning until September 2023 was performed. Relevant Randomized controlled trials (RCTs) were selected, and their data were extracted and analyzed. Pooled mean difference (MD) was calculated for change in the high-resolution perimetry detection accuracy (HRP DA) and fixation accuracy (HRP FA), static automated perimetry foveal threshold (SAP FT), and visual acuity (VA) of near vision outcomes.</p><p><strong>Results: </strong>We pooled in our analysis 4 RCTs. Compared to the sham group, rTACS patients had a significantly higher HRP DA (SMD = 0.35; 95% CI [0.003,0.694] P = 0.048). However, the analysis did not favor any of the compared groups in HRP FA, SAP FT, VA of near vision, and mean threshold (SMD = 0.14; 95% CI [-0.21,0.48] P = 0.43], (SMD = 0.17; 95% CI [-0.11,0.45] P = 0.23), (SMD = 0.32; 95%CI [-0.24,0.88] P = 0.26), and (SMD = 0.31; 95% CI [-0.04,0.65] P = 0.08) respectively.</p><p><strong>Conclusions: </strong>Current evidence suggests that rTACS exhibits a promising approach in homonymous hemianopia patients, where it significantly increased HRP DA. Despite the results' failure to attain statistical significance in some outcomes, it underscores the necessity for larger RCTs with longer follow-up periods.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676967","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":"Tremors with dystonia as a predominant manifestation of primary coenzyme Q10 deficiency.","authors":"Ashish Sharma, Sahil Mehta, Jagdeep Singh, Vivek Lal","doi":"10.1007/s10072-025-08126-6","DOIUrl":"https://doi.org/10.1007/s10072-025-08126-6","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676980","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":"Sonographic follow up for brachial plexopathy after a pacemaker implantation.","authors":"Berkay Yalçınkaya, Ahmet Furkan Çolak, Hilmi Berkan Abacıoğlu, Levent Özçakar","doi":"10.1007/s10072-025-08117-7","DOIUrl":"https://doi.org/10.1007/s10072-025-08117-7","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676972","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}