Neurological Sciences最新文献_第9页

Early reduction of retinal thickness predicts physical and cognitive disability in newly diagnosed multiple sclerosis patients: results from a cross-sectional study. 视网膜厚度的早期减少可预测新诊断多发性硬化症患者的身体和认知障碍：一项横断面研究的结果。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-06-29 DOI: 10.1007/s10072-024-07664-9

Simona Toscano, Clara Grazia Chisari, Alice Biondi, Francesco Patti

{"title":"Early reduction of retinal thickness predicts physical and cognitive disability in newly diagnosed multiple sclerosis patients: results from a cross-sectional study.","authors":"Simona Toscano, Clara Grazia Chisari, Alice Biondi, Francesco Patti","doi":"10.1007/s10072-024-07664-9","DOIUrl":"10.1007/s10072-024-07664-9","url":null,"abstract":"Introduction: Retinal nerve fiber layer (RNFL) thickness is a promising biomarker of axonal loss and a potential outcome predictor in Multiple Sclerosis (MS). Cognitive impairment (CoI) exhibits a high prevalence in patients with MS (pwMS), even in the early phases of the disease. Our aim was to explore the role of RNFL thickness as a predictor of physical and cognitive disability in pwMS.Methods: All newly diagnosed pwMS referred to the MS centre of the University-Hospital \"Policlinico-San Marco\" between 2015-2019 were evaluated at baseline and at 3 years. RNFL and ganglion cell layer (GCL) thickness for right (r.e.) and left eyes (l.e.) were measured with Optical Coherence Tomography (OCT). Disability level and cognitive profile were assessed, using the Expanded Disability Status Scale (EDSS) and the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) battery, respectively.Results: We consecutively enrolled 487 pwMS, including 68 (14.0%) with primary progressive MS (PPMS). At baseline, RNFL and GCL were bilaterally thinner in PPMS (r.e. 90.4 ± 12.7; l.e. 90.2 ± 13.5, and r.e. 80.1 ± 11.2; l.e. 80.3 ± 12.6, respectively) compared to relapsing-remitting MS (RRMS) (r.e. 94.6 ± 13.1; l.e. 94.3 ± 14.8, and r.e. 85.1 ± 9.5; l.e. 84.9 ± 9.3, respectively) (p < 0.01). Both groups exhibited reduced RNFL and GCL thickness, worse cognitive performance and higher EDSS scores at 3-years follow-up compared with baseline. RNFL thickness ≤ 88.0 μm was an independent predictor of CoI (OR = 5.32; 95% CI = 1.84-9.12; p = 0.02) and disability worsening (OR = 3.18; 95% CI = 1.21-10.33; p = 0.05).Discussion: RNFL thickness, as a biomarker of neurodegeneration, could be considered a predictive biomarker of cognitive degeneration and physical disability in MS.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5385-5394"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11470849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477053","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}

引用次数: 0

Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children. 58 例核 DNA 变异线粒体癫痫患儿的基因型和表型特征。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-06-04 DOI: 10.1007/s10072-024-07586-6

Xiaodi Han, Hua Li, Jie Deng, Xiuwei Zhuo, Zhimei Liu, Manting Xu, Weixing Feng, Shuhua Chen, Fang Fang

{"title":"Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.","authors":"Xiaodi Han, Hua Li, Jie Deng, Xiuwei Zhuo, Zhimei Liu, Manting Xu, Weixing Feng, Shuhua Chen, Fang Fang","doi":"10.1007/s10072-024-07586-6","DOIUrl":"10.1007/s10072-024-07586-6","url":null,"abstract":"Objective: Identify the genotype and clinical characteristics of mitochondrial epilepsy caused by nDNA mutations in Chinese children and explore the treatment and prognosis of the condition.Study design: This is a retrospective cohort study conducted at a single center, including patients diagnosed with an established nDNA mutation-associated primary mitochondrial disease between October 2012 and March 2023 who also met the practical clinical definition of epilepsy published by the ILAE in 2014.Results: Of the 58 patients identified, 74.1% had an onset before the age of 1 year and 63.8% had seizures as their initial symptom. Developmental and epileptic encephalopathy (DEE) (31%) are the most common phenotypes. The most frequently observed MRI abnormalities include abnormal signal asymmetry in the bilateral basal ganglia and/or brainstem (34.7%), as well as brain atrophy, myelin sheath dysplasia, and corpus callosum dysplasia (32.7%). Of the 40 patients followed, seizure treatment was effective in 18 of the cases, while it was ineffective in 22. The mitochondrial DNA depletion syndrome (MDS) was found to be more difficult to control seizures than other phenotypes (P < 0.05). Additionally, the MDS was associated with a significantly higher mortality rate compared to alternative phenotypes (P < 0.05).Conclusions: The onset of mitochondrial epilepsy due to nDNA mutations is early and seizures are the most common initial symptom. DEE is the most common phenotype. Characteristic MRI abnormalities in the brain may be helpful in the diagnosis of primary mitochondrial disease. People with MDS typically face challenges in seizure control and have a poor prognosis.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5465-5480"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141238005","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}

引用次数: 0

Evaluation of the clinical assessment scale for autoimmune encephalitis (CASE) in a retrospective cohort and a systematic review. 通过回顾性队列和系统回顾评估自身免疫性脑炎临床评估量表（CASE）。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-06-11 DOI: 10.1007/s10072-024-07642-1

Eva Soellradl, Tim J von Oertzen, Judith N Wagner

{"title":"Evaluation of the clinical assessment scale for autoimmune encephalitis (CASE) in a retrospective cohort and a systematic review.","authors":"Eva Soellradl, Tim J von Oertzen, Judith N Wagner","doi":"10.1007/s10072-024-07642-1","DOIUrl":"10.1007/s10072-024-07642-1","url":null,"abstract":"Background: Autoimmune encephalitis (AE) poses significant challenges in clinical management, requiring effective monitoring tools for therapeutic success and relapse detection. This study aims to assess the Clinical Assessment Scale in Autoimmune Encephalitis (CASE) as compared to the modified Rankin scale (mRS) in evaluating AE patients and to determine the real-world adoption of the CASE score.Methods: A retrospective cohort study was conducted on 20 AE patients, assessing clinical data including symptomatology, diagnostic findings, and therapeutic regimens. Furthermore, we performed a systematic review on the test performance criteria and the real-world use of the CASE score.Results: The CASE score showed a higher sensitivity in detecting clinical changes compared to the mRS, with a significant correlation between the two scales throughout the disease course (r = 0.85, p < 0.01). A systematic review of 150 articles revealed widespread adoption of the CASE score, especially in Asian populations, demonstrating high reliability and internal consistency.Discussion: Despite limitations such as retrospective design and small sample size, our findings underscore the CASE score's utility in both clinical practice and research settings. The CASE score emerges as a valuable tool for monitoring AE patients, offering improved sensitivity over existing scales like the mRS. Further validation studies in diverse populations are warranted to establish its broader applicability and inform future therapeutic interventions.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5423-5428"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11470881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141306439","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}

引用次数: 0

XPR1 mutation related Fahr's disease presenting with a hemorrhagic stroke: a case report. 与 XPR1 基因突变相关的法尔氏病并发出血性中风：病例报告。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-07-02 DOI: 10.1007/s10072-024-07677-4

Sha Han, Qiang Dong, Shi-Lin Yang

引用次数: 0

Neuroplastic training-movement therapy: managing dystonia. 神经可塑性训练-运动疗法：肌张力障碍的治疗。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-07-09 DOI: 10.1007/s10072-024-07680-9

Roberto Tedeschi

引用次数: 0

Novel KCNQ2 missense variant expands the genotype spectrum of DEE7. 新型 KCNQ2 错义变体扩大了 DEE7 的基因型谱。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-06-17 DOI: 10.1007/s10072-024-07655-w

Chao Wang, JinXia Zhai, YongJun Chen

{"title":"Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.","authors":"Chao Wang, JinXia Zhai, YongJun Chen","doi":"10.1007/s10072-024-07655-w","DOIUrl":"10.1007/s10072-024-07655-w","url":null,"abstract":"Background: KCNQ is a voltage-gated K + channel that controls neuronal excitability and is mutated in epilepsy and autism spectrum disorder (ASD). We focus on the KV7.2 voltage-gated potassium channel gene (KCNQ2), which is known for its association with developmental delay and various seizures (including self-limited benign familial neonatal epilepsy and epileptic encephalopathy). But the pathogenicity of many variants remains unproven, potentially leading to misinterpretation of their functional consequences.Methods: In this study, we studied a patient who visited Nanhua Hospital. Targeted next-generation sequencing and Sanger sequencing were used to identify the pathogenic variants. Meanwhile, computational models, including hydrogen bonding and docking analyses, suggest that variants cause functional impairment. In addition, functional validation was performed in the drosophila to further evaluate the missense variant in the KCNQ2 gene as the cause of this patient.Results: A new missense variant in the KCNQ2 gene was identified: NM_172107.4:c.1007C > A(p.ALa336Glu), which resulted in the change from alanine to glutamate at amino acid position 336 in the KCNQ2 gene. After computational modeling, including hydrogen bond analysis and docking analysis, it is indicated that the variants cause functional impairment. Furthermore, RNAi-mediated KCNQ knockout in flies led to the onset of epileptic behavior, lifespan and climbing capacity were affected, expression of the normal human KCNQ2 rescues the in flies RNAi-mediated KCNQ knockout behavioral abnormalities.Conclusion: Our findings expands the genetic profile of KCNQ2 and enhances the genotype - phenotype link.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5481-5488"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331502","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}

引用次数: 0

Ecological validity of performance-based cognitive screeners in amyotrophic lateral sclerosis: preliminary evidence. 肌萎缩性脊髓侧索硬化症患者基于表现的认知筛选器的生态有效性：初步证据。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-06-21 DOI: 10.1007/s10072-024-07660-z

Edoardo Nicolò Aiello, Silvia Torre, Federica Solca, Beatrice Curti, Giulia De Luca, Claudia Gendarini, Alessandro Cocuzza, Eleonora Colombo, Alessio Maranzano, Federico Verde, Claudia Morelli, Stefano Messina, Alberto Doretti, Vincenzo Silani, Nicola Ticozzi, Barbara Poletti

{"title":"Ecological validity of performance-based cognitive screeners in amyotrophic lateral sclerosis: preliminary evidence.","authors":"Edoardo Nicolò Aiello, Silvia Torre, Federica Solca, Beatrice Curti, Giulia De Luca, Claudia Gendarini, Alessandro Cocuzza, Eleonora Colombo, Alessio Maranzano, Federico Verde, Claudia Morelli, Stefano Messina, Alberto Doretti, Vincenzo Silani, Nicola Ticozzi, Barbara Poletti","doi":"10.1007/s10072-024-07660-z","DOIUrl":"10.1007/s10072-024-07660-z","url":null,"abstract":"Background: This study aimed at preliminarily assessing, in a cohort of non-demented amyotrophic lateral sclerosis (ALS) patients, the ecological validity, and more specifically the veridicality, of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) and the ALS Cognitive Behavioral Screen (ALS-CBS™), by relating their scores to caregiver-report ratings of cognitive changes.Methods: N = 147 patient-caregiver dyads were recruited. Patients were administered the ECAS and ALS-CBS™, whilst caregiver the Caregiver Behavioral Questionnaire (CBQ) and Beaumont Behavioural Inventory (BBI). An Ecological Cognitive Functioning Index (ECFI) was derived from those items of the CBQ and BBI that tap on executive and language changes. Ecological validity was assessed via both correlational and predictive analyses net of caregiver-rated behavioural changes (as assessed by the ECAS-Carer Interview).Results: The ECFI was associated with the total scores on both the ECAS (p = .014) and ALS-CBS™ (p = .017). When looking at ECAS and ALS-CBS™ subscales, those assessing verbal fluency were selectively associated with the ECFI. The ECFI was higher in patients performing defectively on the ECAS (p = .004) and on the ALS-CBS™ (p = .027).Discussion: This study suggests that both the ECAS and the ALS-CBS™ represent a valid estimate of non-demented ALS patients' cognitive status in the real world, also highlighting the clinical relevance of cognitive changes reported by caregivers.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5319-5325"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141432405","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}

引用次数: 0

Successful treatment with efgartigimod as an add-on therapy in acute attack of anti-AQP4 antibody-positive NMOSD: a case report. 在抗AQP4抗体阳性NMOSD急性发作期使用依加替莫德作为附加疗法取得成功：病例报告。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-07-06 DOI: 10.1007/s10072-024-07678-3

Shi-Qi Huang, Zhen-Hua Yuan, Ye Hong, Teng Jiang, Hong-Dong Zhao, Jian-Quan Shi

{"title":"Successful treatment with efgartigimod as an add-on therapy in acute attack of anti-AQP4 antibody-positive NMOSD: a case report.","authors":"Shi-Qi Huang, Zhen-Hua Yuan, Ye Hong, Teng Jiang, Hong-Dong Zhao, Jian-Quan Shi","doi":"10.1007/s10072-024-07678-3","DOIUrl":"10.1007/s10072-024-07678-3","url":null,"abstract":"Background: Neuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune demyelinating disease characterized by recurrent myelitis and optic neuritis. It is associated with high rates of relapse and disability. The main treatment strategies for acute attacks include intravenous methylprednisolone pulse (IVMP) treatment and rescue treatment with plasma exchange (PLEX). Recently, the blockade of neonatal Fc receptor (FcRn)-IgG interaction has gained momentum as a therapeutic strategy. Efgartigimod, the first approved FcRn inhibitor for treating generalized myasthenia gravis, has shown impressive safety, efficacy, and tolerability, and is being regarded as \"PLEX in a bottle\".Case description: We report a 65-year-old female patient who was diagnosed with anti-AQP4 antibody positive NMOSD. Add-on treatment with efgartigimod to IVMP and intravenous immunoglobulin (IVIG) at the second acute relapse showed favorable results.Conclusion: This case suggests that efgartigimod is a potentially effective add-on therapy in acute attacks of AQP4-IgG-positive NMOSD.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5511-5515"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141538215","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}

引用次数: 0

A tropical myelitis. 热带脊髓炎

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-08-26 DOI: 10.1007/s10072-024-07743-x

Tiphaine Paubel, Vincent Schneider, Marc Lenfant, Christelle Blanc Labarre

引用次数: 0

A case of hemichorea/hemiballismus in a patient with Alzheimer's disease and history of Sydenham's chorea: the return of an old acquaintance? 一例患有阿尔茨海默氏症并有西登翰舞蹈症病史的患者出现了半身不遂/眼球震颤：老相识又回来了？

IF 2.7 4区医学

Neurological Sciences Pub Date : 2024-11-01 Epub Date: 2024-06-13 DOI: 10.1007/s10072-024-07650-1

Salvatore Mazzeo, Daniele Frigerio, Chiara Crucitti, Arianna Cavaliere, Danilo Caimano, Valentina Berti, Benedetta Nacmias, Sandro Sorbi, Valentina Bessi

引用次数: 0