Acta neurologica Belgica最新文献

{"title":"Expanding the phenotyping spectrum of Witteveen Kolk syndrome: first report of generalized dystonia and cerebellar ataxia.","authors":"Farsana Mustafa, Deepti Vibha, Manjari Tripathi, Shailesh B Gaikwad, Biswamohan Mishra","doi":"10.1007/s13760-024-02689-5","DOIUrl":"https://doi.org/10.1007/s13760-024-02689-5","url":null,"abstract":"<p><p>Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder characterized by distinct facial features, microcephaly, short stature, intellectual disability, and subtle neuroimaging abnormalities. The syndrome is attributed to a loss of function mutation in the SIN3A gene, a member of the switch-insensitive 3 transcription regulator family. Herein, we present a 21-year-old woman with dysmorphic facial features, short stature, and a chronic, progressively worsening symmetric cerebellar ataxia, along with generalized dystonia. Whole-exome sequencing identified a heterozygous mutation in exon 7 of the SIN3A gene (c.1051 C>T, p.Pro351Ser), consistent with a diagnosis of WITKOS. Notably, dystonia has not been previously associated with this syndrome. This case underscores the clinical variability and broadens the phenotypic spectrum of WITKOS.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685741","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":"Proceedings of the 18th annual meeting of the Genetic Epidemiology of Parkinson's disease consortium.","authors":"David Crosiers, Katerina Markopoulou","doi":"10.1007/s13760-024-02651-5","DOIUrl":"https://doi.org/10.1007/s13760-024-02651-5","url":null,"abstract":"<p><p>The 18th annual meeting of the Genetic Epidemiology of Parkinson's disease (GEoPD) consortium was held on October 30th and 31st, 2023 in the city of Antwerpen (Belgium). GEoPD is a global consortium of researchers dedicated to promoting education, basic and translational research in Parkinson's disease. The consortium has been operating since 2004, and has an active membership from numerous sites on six continents. We were very proud to have scientific participation from renowned clinicians and researchers from different continents. The meeting featured invited oral presentations and poster sessions on genetic stratification, pathogenesis, biomarkers, diagnosis and treatment of Parkinson's disease. In these proceedings of the meeting, we have included abstracts of oral plenary presentations and abstracts of poster presentations.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680500","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":"Two remarkable cases of haploinsufficiency found in the DYRK1A gene.","authors":"Elifcan Taşdelen, Umut Can Tekbaş, Hasan Baş, Abdullah Sezer","doi":"10.1007/s13760-024-02685-9","DOIUrl":"https://doi.org/10.1007/s13760-024-02685-9","url":null,"abstract":"<p><strong>Introduction: </strong>DYRK1A syndrome, also known as \"Intellectual developmental disorder, autosomal dominant 7,\" is a syndromic intellectual disability characterized by dysmorphic features including deep-set eyes, prominent ears, and retrognathia. Patients have neurodevelopmental problems, ocular anomalies, and multisystem phenotypes. Most cases result from single nucleotide variants causing DYRK1A-haploinsufficiency, while deletions occur in < 15% of cases. This study discusses two patients with DYRK1A haploinsufficiency.</p><p><strong>Case presentation: </strong>Patient 1 had a novel early termination codon variant in DYRK1A and Patient 2 had partial monosomy 21/monosomy 21 mosaicism, both de novo occurrences. Genetic analysis revealed that Patient 2 had DYRK1A monosomy in all cells, and dysmorphic investigations suggested facial features were more likely caused by DYRK1A-haploinsufficiency rather than by mosaic monosomy 21.</p><p><strong>Conclusion: </strong>This study is the first to describe a patient with a complex chromosomal condition leading to DYRK1A haploinsufficiency, thereby expanding the known genotype spectrum of the syndrome.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685743","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":"Strength and dexterity of less affected hand of children with unilateral cerebral palsy: a comparison study with normal peers.","authors":"Mahmoud A Hassan, Emam H Elnegmy, Amira M El-Tohamy, Amira M Abd-Elmonem","doi":"10.1007/s13760-024-02683-x","DOIUrl":"https://doi.org/10.1007/s13760-024-02683-x","url":null,"abstract":"<p><strong>Background/aim: </strong>A key aspect of hand function is dexterity, which is described as fine voluntary movements used to manipulate small objects during a specific task. The contralateral hand in children with unilateral cerebral palsy (U-CP); is commonly referred to as a \"good\" and \"unimpaired\" hand, while others have noted that it has subtle limitations. Therefore, this study aimed to assess and compare between the strength and dexterity of less-affected hand of children with U-CP and the dominant hand of normal peers.</p><p><strong>Methods: </strong>A sample of 120 volunteer children from both sexes and age ranged from 6 to 10 years participated in this study. Out of the 120 children, sixty were normal typically developing (TD) and sixty children with U-CP. Assessment of fine motor dexterity and grip and pinch strength were carried out by the Functional dexterity test (FDT) and Pneumatic squeeze Blub Dynamometer respectively.</p><p><strong>Results: </strong>The results showed that there was a significant lower in pinch and grip strength (p < 0.01) and significant higher FDT scores of children with U-CP compared with that of TD children (p = 0.001). Moreover, there was a significant higher functional levels in TD children compared with that of children with U-CP (p < 0.001) with no significant difference between groups in penalty distribution (p > 0.05).</p><p><strong>Conclusion: </strong>Children with U-CP underperformed with their less-affected hand than the dominant hand of TD age matched peers. Future researches on bilateral hand function may be used to determine the best rehabilitation interventions.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142611892","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":"Letter to the editor regarding \"Postoperative elevated bed header position versus supine in the management of chronic subdural hematoma: a systematic review and meta-analysis\" by Ibrahim Serag et al.","authors":"Rodrigo Batata, Vasco Sá Pinto, Sérgio Sousa, Eduardo Cunha, Alfredo Calheiros","doi":"10.1007/s13760-024-02687-7","DOIUrl":"10.1007/s13760-024-02687-7","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142611889","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":"Ocular myasthenia gravis and thyroid eye disease: double trouble.","authors":"Vasiliki Zouvelou, Georgios Boutzios, Chrysoula Michaletou, Nikolaos-Achilleas Arkoudis, Georgios Velonakis","doi":"10.1007/s13760-024-02684-w","DOIUrl":"https://doi.org/10.1007/s13760-024-02684-w","url":null,"abstract":"<p><p>A 60-year-old male patient with a previously unremarkable medical history presented with unilateral eyelid ptosis and binocular diplopia in the past year. Clinical and laboratory workup confirmed the diagnosis of ocular myasthenia gravis. In addition, further workup with orbital MRI performed due to exophthalmos and unilateral ophthalmoplegia demonstrated findings compatible with thyroid eye disease, which were further verified by antibody testing. The unusual concurrent appearance of ocular myasthenia gravis and thyroid eye disease is presented while illustrating the hallmark clinical, laboratory, and imaging findings relevant to both diseases.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142611890","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":"Effect of arm ergometer versus stabilization exercises on trunk control and pper extremity functions in children with diplegia: a randomized controlled trial.","authors":"Amira F El-Sheikha, Amira M Abd-Elmonem, Reham N Mohie-Eldien, Ahmed Rabie, Amira F Ibrahim","doi":"10.1007/s13760-024-02668-w","DOIUrl":"https://doi.org/10.1007/s13760-024-02668-w","url":null,"abstract":"<p><strong>Background: </strong>One of the most prevalent clinical subtypes of cerebral palsy (CP) is diplegia. Most children with diplegia have weakness in axial muscles and spasticity in extremities which have adverse impacts on trunk control and manual coordination of upper extremities.</p><p><strong>Aim: </strong>To examine and compare between the effects of arm ergometer and stabilization exercises applied for duration of 12 weeks on upper extremity functioning, trunk control, and hand grip strength (HGS) in children with spastic diplegia.</p><p><strong>Methods: </strong>Forty-two children with spastic diplegia aged from 6 to 10 years were randomly assigned to either group A or B, (n = 21 each). Children in group A received a designed arm ergometer exercises for 30 min while those in group B received trunk stabilization exercises for 30 min. As well, children in both groups received 30 min of a designed physical training for 30 min. Treatment was delivered three times a week for 12 weeks in succession. The quality of upper extremity skill test (QUEST), hand held dynamometer (HHD) and Trunk control measuring scale (TCMS) were used to assess upper extremity functions, HGS and trunk control respectively before and after suggested treatment duration.</p><p><strong>Results: </strong>In terms of all indicators measured at baseline, study groups were comparable (P > 0.05). Significant improvements in all outcome indicators were recorded in within-group comparison (P < 0.05). Further, between groups comparison showed significant higher improvements in upper extremity functions and HGS in favor of group A while trunk control scores showed no significant difference between the two groups (P > 0.05).</p><p><strong>Conclusion: </strong>Arm ergometer exercises have the capability to enhance upper extremity functions, HGS and trunk control. It is therefore beneficial for physical rehabilitation specialists to incorporate the arm ergometer exercises into the intervention plans for children with spastic diplegia.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602053","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":"Paroxysmal dysarthria caused by cerebrospinal fluid rhinorrhea.","authors":"Zhihui Liu, Jiahao Wei, Huahua Su, Xi Liu, Lifen Chen","doi":"10.1007/s13760-024-02665-z","DOIUrl":"https://doi.org/10.1007/s13760-024-02665-z","url":null,"abstract":"<p><p>Cerebrospinal fluid (CSF) rhinorrhea causes the loss of CSF, resulting in a decrease in intracranial pressure and a lack of CSF protection in brain tissue. CSF rhinorrhea may cause impairment of posterior cranial nerves resulting in facial paralysis and vertigo. However, dysarthria caused by involvement of glossopharyngeal nerves and vagus nerves has seldom been reported. Here, we reported a 69-year-old woman who had paroxysmal slurred speech due to CSF rhinorrhea together with paroxysmal facial paralysis.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602194","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":"Gaze palsy in glycine receptor antibody-mediated autoimmune encephalitis: a case report.","authors":"Wan Jiang, Chong Wang, Yun Xu, Qing Ye","doi":"10.1007/s13760-024-02681-z","DOIUrl":"10.1007/s13760-024-02681-z","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142611888","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 performance of machine learning for predicting the recurrent stroke: a systematic review and meta-analysis on 24,350 patients.","authors":"Mohammad Amin Habibi, Farhang Rashidi, Ehsan Mehrtabar, Mohammad Reza Arshadi, Mohammad Sadegh Fallahi, Nikan Amirkhani, Bardia Hajikarimloo, Milad Shafizadeh, Shahram Majidi, Adam A Dmytriw","doi":"10.1007/s13760-024-02682-y","DOIUrl":"https://doi.org/10.1007/s13760-024-02682-y","url":null,"abstract":"<p><strong>Background: </strong>Stroke is a leading cause of death and disability worldwide. Approximately one-third of patients with stroke experienced a second stroke. This study investigates the predictive value of machine learning (ML) algorithms for recurrent stroke.</p><p><strong>Method: </strong>This study was prepared according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. PubMed, Scopus, Embase, and Web of Science (WOS) were searched until January 1, 2024. The quality assessment of studies was conducted using the QUADAS-2 tool. The diagnostic meta-analysis was conducted to calculate the pooled sensitivity, specificity, diagnostic accuracy, positive and negative diagnostic likelihood ratio (DLR), diagnostic accuracy, diagnostic odds ratio (DOR), and area under of the curve (AUC) by the MIDAS package in STATA V.17.</p><p><strong>Results: </strong>Twelve studies, comprising 24,350 individuals, were included. The meta-analysis revealed a sensitivity of 71% (95% CI 0.64-0.78) and a specificity of 88% (95% confidence interval (CI) 0.76-0.95). Positive and negative DLR were 5.93 (95% CI 3.05-11.55) and 0.33 (95% CI 0.28-0.39), respectively. The diagnostic accuracy and DOR was 2.89 (95% CI 2.32-3.46) and 18.04 (95% CI 10.21-31.87), respectively. The summary ROC curve indicated an AUC of 0.82 (95% CI 0.78-0.85).</p><p><strong>Conclusion: </strong>ML demonstrates promise in predicting recurrent strokes, with moderate to high sensitivity and specificity. However, the high heterogeneity observed underscores the need for standardized approaches and further research to enhance the reliability and generalizability of these models. ML-based recurrent stroke prediction can potentially augment clinical decision-making and improve patient outcomes by identifying high-risk patients.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589467","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}