Neurological Sciences最新文献_第9页

Unveiling Gaps and Demographic Influences in Alzheimer's Therapy: A Data-Centric Study of FDA-Approved Late-Phase Clinical Trials.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-27 DOI: 10.1007/s10072-025-08135-5

Vaishnavi Milind Kalokhe, Simran Simran, Aftab Ahmad, Fathima Musthafa, Vishal Sachin Gangawane, Rajeev Singh Raghuvanshi, Saurabh Srivastava

{"title":"Unveiling Gaps and Demographic Influences in Alzheimer's Therapy: A Data-Centric Study of FDA-Approved Late-Phase Clinical Trials.","authors":"Vaishnavi Milind Kalokhe, Simran Simran, Aftab Ahmad, Fathima Musthafa, Vishal Sachin Gangawane, Rajeev Singh Raghuvanshi, Saurabh Srivastava","doi":"10.1007/s10072-025-08135-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08135-5","url":null,"abstract":"Background: Alzheimer's disease is more prevalent in women than in men. In this study, the author examined the U.S. Food and Drug Administration (FDA) completed phase 4 clinical trials associated with Alzheimer's. The research aims to evaluate the women's participation-to-prevalence ratio (PPR) for Alzheimer's disease.Method: Using the FDA's publicly available clinical trial database, 45 Phase 4 Alzheimer's trials from 2003 to 2019 were assessed. Further, the total PPR and yearly PPR value are calculated by dividing the percentage of women in clinical trials by the total percentage of women affected by Alzheimer's disease. The PPR value equal to 1 showcases the balanced participation of females in the Phase 4 clinical trial and the diseased affected population.Result: Out of 45 trials, 41 were completed and four were terminated. The gender data was unavailable for three trials. In 38 clinical trials associated with Alzheimer's disease, 4502 participants were enrolled. Among 4502, 2604 (57.84%) were found to be female and 1898 (42.15%) were male. The PPR for women was 0.80, reflecting an adequate representation of women participants in late-phase clinical trials. The yearly PPR reduction has been seen in female participants.Conclusion: In the year-based PPR, the range was from 0.72-1.0. In the initial year, the range was 1, which was reduced to 0.72 in 2007. In total, 38 completed clinical trials, 18 trials used placebo treatment, and the gender ratio in placebo was adequate. More transparency is essential in gender concerning SAE in publicly available databases.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720862","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

CSF1R-related disorder: A clinical, imaging and genetic profile review.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-27 DOI: 10.1007/s10072-025-08146-2

Rohan Ramachandra Mahale, Hansashree Padmanabha, Pooja Mailankody

{"title":"CSF1R-related disorder: A clinical, imaging and genetic profile review.","authors":"Rohan Ramachandra Mahale, Hansashree Padmanabha, Pooja Mailankody","doi":"10.1007/s10072-025-08146-2","DOIUrl":"https://doi.org/10.1007/s10072-025-08146-2","url":null,"abstract":"Background: Colony-stimulating factor 1 receptor (CSF1R) -related disorder (CSF1R-RD) is a primary microgliopathy with a distinct clinical, imaging and genetic profile.Objective: Description of the clinical, imaging and genetic profile of CSF1R-RD and comparison of Indian cohort with Asian, European and American cohort.Methods: Report of 2 cases of CSF1R-RD and review of reported cases of genetically confirmed CSF1R-RD since 2012 from Indian, Asian, European and American cohorts.Results: Two patients were females with age at onset at 40 and 42 years. The duration of symptoms was 2 and 5 years. Both had spasticity, cognitive impairment and psychiatric disturbances. Brain imaging showed hyperintensities in the cerebral white mater involving deep and periventricular white mater with diffusion restriction in one patient. There was diffuse cerebral and corpus callosum atrophy. Genetics showed heterozygous missense variants in exon 18 of the CSF1R gene in both patients. The Indian cohort of 5 patients had additional symptoms of dysarthria, dysphagia, parkinsonism, tremor and gait abnormality, similar radiological features. The Asian, European and American cohort had similar clinical and radiological features. Seizures were more commonly reported in America cohort and presence of calcification was less common imaging abnormality in all cohorts. Genetic profiling showed heterozygous predominantly missense variants in the TKD in all cohorts.Conclusion: CSF1R-RD has distinct clinical profile of cognitive impairment, spasticity, psychiatric disturbances with dysarthria, dysphagia, parkinsonism, tremor, ataxia, seizures, aphasia and gait abnormality. Calcification is less common radiological abnormality with heterozygous missense variants in the TKD as the common genetic variant.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720859","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

Diagnosing migraine in children and adolescence using ID migraine: results of an Italian multicenter validation.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-27 DOI: 10.1007/s10072-025-08076-z

Ilaria Frattale, Vittorio Sciruicchio, Daniela D'Agnano, Vincenzo Raieli, Salvatore Lo Cascio, Giuseppe Santangelo, Edvige Correnti, Fabiana Ursitti, Giorgia Sforza, Gabriele Monte, Luigi Mazzone, Massimiliano Valeriani, Laura Papetti

{"title":"Diagnosing migraine in children and adolescence using ID migraine: results of an Italian multicenter validation.","authors":"Ilaria Frattale, Vittorio Sciruicchio, Daniela D'Agnano, Vincenzo Raieli, Salvatore Lo Cascio, Giuseppe Santangelo, Edvige Correnti, Fabiana Ursitti, Giorgia Sforza, Gabriele Monte, Luigi Mazzone, Massimiliano Valeriani, Laura Papetti","doi":"10.1007/s10072-025-08076-z","DOIUrl":"https://doi.org/10.1007/s10072-025-08076-z","url":null,"abstract":"Background: Since migraine is the most frequent neurological condition, an early diagnosis is important to limit the impact of the disease on the quality of life. Although migraine diagnosis is based on the International Classification of Headache Disorders 3rd edition (ICHD3) criteria, other briefer questionnaires have been developed, especially for screening purpose. While the three-item ID Migraine has proved useful for migraine diagnosis in adulthood, no validated tools are available for children and adolescents. The aim of this study is to validate ID Migraine also in pediatric patients.Results: The Italian ID Migraine for adulthood was completed by 289 pediatric patients (mean age 12.14 ± 3.15, range 6-17) who attended three third-level pediatric headache centers. Clinical and neurological examinations were performed, and the final diagnosis was reached according to the ICHD3 criteria. The migraine group consisted of 230 patients, and the control group consisted of 59 patients who received headache diagnoses different from migraine. We considered the ID migraine positive whether 2 out of 3 responses were 'yes'. ID migraine for diagnosis of pediatric migraine showed a sensitivity of 0.86 (86%), a specificity of 0.95 (95%), a positive predictive value (PPV) of 0.98 (98%) and a negative predictive value (NPV) 0.64 (64%).Conclusion: ID Migraine can be considered a valid tool for migraine diagnosis also in pediatric age, starting from the age of 6 years.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720860","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

Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-27 DOI: 10.1007/s10072-025-08079-w

D Fontanesi, Giulia Di Rauso, F Cavallieri, V Fioravanti, E Monfrini, J Rossi, G Toschi, R Sabadini, S Montepietra, A Merlo, I Campanini, L Cavazzuti, A Di Fonzo, F Valzania

{"title":"Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.","authors":"D Fontanesi, Giulia Di Rauso, F Cavallieri, V Fioravanti, E Monfrini, J Rossi, G Toschi, R Sabadini, S Montepietra, A Merlo, I Campanini, L Cavazzuti, A Di Fonzo, F Valzania","doi":"10.1007/s10072-025-08079-w","DOIUrl":"https://doi.org/10.1007/s10072-025-08079-w","url":null,"abstract":"Background: Dopa-responsive dystonia (DRD) is a group of rare forms of genetically determined dystonia. Large improvements of symptoms can be seen with small doses of levodopa. As a treatable condition, it must be diagnosed and treated to improve the patients' functional outcome and quality of life.Case presentation: We describe the case of a woman affected by progressive gait impairment and lower limb rigidity, started at the age of 15. For talipes equinovarus (clubfoot), she underwent Achilles tendon lengthening and anterior tibial haemitendon transposition surgery. Family history collection revealed that her mother had been diagnosed with spastic paraparesis in adolescence. Clinical phenotype and family history suggested a diagnosis of hereditary spastic paraparesis (HSP), supported by a mild involvement of the pyramidal tract in lower limbs at the motor evoked potential. Clinical evaluation revealed the presence of mild signs of dystonia, as a foot and cervical dystonia and upper limbs dystonic tremor. Indeed, a virtual panel for dystonia genes showed a pathogenic splice-site variant in GCH1. The patient was diagnosed with DRD and low doses of levodopa were started with clinical improvement of both gait and dystonia.Conclusion: We describe the clinical history of a patient with dopa responsive dystonia, which was initially diagnosed with HSP. Misdiagnosis can result in a significant delay in diagnosis and treatment initiation, so it is of the utmost importance to identify these patients without delay, looking for the presence of soft dystonia signs and performing an empirical trial with low doses of levodopa.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720861","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

Differential effects of high-frequency repetitive transcranial magnetic stimulation over the left and right dorsolateral prefrontal cortex for post-stroke cognitive impairment.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-26 DOI: 10.1007/s10072-025-08123-9

Xinlin Jiang, Lei Fan, Wenxin Zhu, Yuwei Xiu, Yuanbiao Liu

{"title":"Differential effects of high-frequency repetitive transcranial magnetic stimulation over the left and right dorsolateral prefrontal cortex for post-stroke cognitive impairment.","authors":"Xinlin Jiang, Lei Fan, Wenxin Zhu, Yuwei Xiu, Yuanbiao Liu","doi":"10.1007/s10072-025-08123-9","DOIUrl":"https://doi.org/10.1007/s10072-025-08123-9","url":null,"abstract":"Objective: In this study, it is aimed to explore the different effects of repetitive transcranial magnetic stimulation (HF-rTMS)over the left and right dorsolateral prefrontal cortex (DLPFC) for post-stroke cognitive impairment (PSCI).Method: In this study, we allocated 40 patients with PSCI who were divided into the left DLPFC group (n = 20) and the right DLPFC group (n = 20). Patients received 20HZ rTMS over the ipsilateral DLPFC respectively, for 20 consecutive days (20 min/time, 1 time/day). Cognitive performance was assessed before and after treatment using the Montreal Cognitive Assessment (MoCA), the Loewenstein Occupational Therapy Cognitive Assessment (LOTCA), and the Modified Barthel Index (MBI). Furthermore, event-related potential (ERP) detection was also conducted in patients at baseline and after treatment.Results: After treatment, the global cognition, orientation, and language of patients in the left DLPFC group were significantly improved (P < 0.05). While the enhancement of visual perception and spatial perception in the right DLPFC group was significant (P < 0.05). MBI scores in both groups were increased (P < 0.05), but there was no significant difference between the two groups after treatment (P > 0.05).The decrease of latency in the left DLPFC group was more significant than that in the right DLPFC group (P < 0.05), but there was no significant difference in amplitude (P > 0.05).Conclusion: The results support that high-frequency rTMS over the left DLPFC is a more effective treatment for improving global cognition and suggest that the left and right DLPFC are associated with different cognitive functions.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730805","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

Presence of cortical lesions in older persons with multiple sclerosis and association with cognitive function.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-26 DOI: 10.1007/s10072-025-08141-7

Jimmy S Lee, Mark E Wagshul, Siddharth Nayak, Roee Holtzer

{"title":"Presence of cortical lesions in older persons with multiple sclerosis and association with cognitive function.","authors":"Jimmy S Lee, Mark E Wagshul, Siddharth Nayak, Roee Holtzer","doi":"10.1007/s10072-025-08141-7","DOIUrl":"https://doi.org/10.1007/s10072-025-08141-7","url":null,"abstract":"Background: Cortical lesions (CL) have been reported and characterized in multiple sclerosis (MS), but their presence and association with cognitive function in older adults with MS (OAMS) have not been evaluated.Objective: To quantify the presence of CL in OAMS and healthy controls. We hypothesized that compared to controls, OAMS would have more CL, and CL would be associated with worse cognition.Methods: OAMS (n = 95, mean age 64.5 ± 4.2) and controls (n = 106, mean age 68.3 ± 7.3) underwent MRI and cognitive assessments. Cognitive function was assessed through Symbol-Digit-Modalities-Test (SDMT).Results: CL were identified in 43/95 (45%) of OAMS, and 2/106 (1.9%) of controls. OAMS were further stratified by CL burden (0, 1-2, and ≥ 3 CL). Linear regressions showed that compared to participants with no CL, those with ≥ 3 CL, but not 1-2 CL demonstrated worse SDMT performance in unadjusted (p = 0.005) and adjusted (p = 0.034) analyses. Stratification of results by age of onset into typical (TOMS) and late (LOMS) onset MS, show that among LOMS white matter lesion load (WMLL), but not CL burden, is associated with worse SDMT (p < 0.001). In contrast, CL burden in TOMS was associated with lower SDMT performance (p = 0.021), independent of WMLL.Conclusion: CL are present in OAMS and are significantly greater than in controls. Among OAMS, higher CL burden was associated with worse speed of processing and working memory performance. Age of MS onset modified the effect CL burden has on SDMT performance, which suggests that there may be different disease processes between LOMS and TOMS that affect cognitive performance.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730810","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

Functional network hubs in vestibular migraine: a neuroimaging perspective.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-26 DOI: 10.1007/s10072-025-08106-w

Wei Liu, Zhihui Fu, Chen Guo, Yichao Wang, Bing Yao, Zhengxin Ni

{"title":"Functional network hubs in vestibular migraine: a neuroimaging perspective.","authors":"Wei Liu, Zhihui Fu, Chen Guo, Yichao Wang, Bing Yao, Zhengxin Ni","doi":"10.1007/s10072-025-08106-w","DOIUrl":"https://doi.org/10.1007/s10072-025-08106-w","url":null,"abstract":"Objective: This study utilizes resting-state functional magnetic resonance imaging (rs-fMRI) and graph theory analysis to identify key brain regions in vestibular migraine (VM), explore their associations with clinical symptoms, and examine the role of these functional network hubs in the pathophysiology of VM, offering novel insights and a theoretical basis for understanding its neural mechanisms and improving its clinical diagnosis and treatment.Methods: We enrolled patients diagnosed with VM, individuals with Migraine without Aura (MwoA), and healthy control subjects, collecting both clinical and sociodemographic data alongside MRI data. Employing graph theory analysis, we focused on identifying critical hub nodes and networks within VM patients, using metrics like degree, betweenness centrality, and eigenvector centrality for our analysis.Results: The study included 30 VM patients, 28 MwoA subjects, and 31 healthy controls. Analysis of rich-club coefficients across different levels of network sparsity indicated significantly lower normalized rich-club coefficients for VM and MwoA groups compared to healthy controls at a 65% sparsity threshold, particularly within a node degree range of 91 to 94. Notably, the temporal lobes, limbic system, and frontal lobes were predominant regions for rich-club nodes in the VM group, with significant increases in centrality metrics observed in the right posterior parahippocampal gyrus. These metrics in the hippocampus and parahippocampal gyrus showed a positive correlation with the intensity, duration, and progression of headache episodes in VM patients.Conclusions: In vestibular migraine patients, critical hub nodes such as the hippocampus and parahippocampal gyrus are identified, potentially associated with emotional regulation, pain perception, and the memory of pain.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710846","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

Correction to: Dihydroartemisinin suppresses glioma proliferation and invasion via inhibition of the ADAM17 pathway.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-26 DOI: 10.1007/s10072-025-08131-9

Junyan Chen, Xiangrong Chen, Fan Wang, Hongzhi Gao, Weipeng Hu

引用次数: 0

AChR-blocking antibodies and complement system dynamics: evaluating their interplay and clinical implications in myasthenia gravis.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-25 DOI: 10.1007/s10072-025-08137-3

Florencia Aguirre, Mariano E Justo, Lucía Cialdella, Mariela L Paz

引用次数: 0

Does kinesio taping affect balance in individuals with multiple sclerosis?

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-03-25 DOI: 10.1007/s10072-025-08115-9

Fatma Erdeo, Ali Ulvi Uca, Musa Çankaya, Neslihan Altuntaş Yılmaz

{"title":"Does kinesio taping affect balance in individuals with multiple sclerosis?","authors":"Fatma Erdeo, Ali Ulvi Uca, Musa Çankaya, Neslihan Altuntaş Yılmaz","doi":"10.1007/s10072-025-08115-9","DOIUrl":"https://doi.org/10.1007/s10072-025-08115-9","url":null,"abstract":"Background: Balance disorders are common in individuals with multiple sclerosis (MS) due to the combined effects of lack of adequate postural control, muscle weakness, ataxia, and lack of sensory information. The aim of this study was to assess the effect of Kinesio taping (KT) on balance among subjects with MS.Method: This was a non-controlled observational study. A consecutive convenience sample of 30 individuals with MS was assessed. KT was applied directly to the skin under the foot. Clinical assessments were performed at baseline, immediately before and after application of the tape. Balance was evaluated with both eyes open and closed. The effects of sense of balance, spasticity, and muscle strength were evaluated.Results: A significant difference was observed before and after banding in the dominant and non-dominant extremities (pbefore = .001, pafter = .002). There was a significant difference between vibration and two-point discrimination and balance (p > 0.05). There was no significant relationship between light touch sense and balance (p > 0.05). Further, except for tibialis anterior muscle strength, there was no significant difference between balance and other lower extremity muscles (p > 0.05). In addition, except for muscle spasticity in the quadriceps, there was a significant difference between balance and other lower extremity muscles (p < 0.05).Conclusions: KT appears to be a useful tool in reducing the fall rate and improving balance skills in patients with MS. These preliminary results suggest that the use of Kinesio foot taping may be useful in immediately stabilising body posture.","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":"143710844","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