Acta neurologica Belgica最新文献

{"title":"Coexistence of moyamoya disease and subclavian steal syndrome.","authors":"Hayri Ogul","doi":"10.1007/s13760-025-02793-0","DOIUrl":"https://doi.org/10.1007/s13760-025-02793-0","url":null,"abstract":"<p><p>Coexistence of moyamoya disease (MMD) and subclavian steal syndrome (SSS) is an extremely rare condition. We here presented the imaging features of a 50-year-old male with complaints of the severe headache and left upper limb weakness. Computed tomography (CT) angiography showed steno-occlusion of the right terminal internal carotid artery (ICA) and left middle cerebral artery compatible with MMD and total occlusion of the left proximal subclavian artery. Phase-contrast (PC) magnetic resonance (MR) angiography and Doppler ultrasonography (DUS) demonstrated retrograde flow pattern in the left vertebral artery.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958008","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":"Mirror movements: mechanisms, diagnosis, and emerging therapeutic strategies.","authors":"Hussein Algahtani, Bader Shirah","doi":"10.1007/s13760-025-02795-y","DOIUrl":"https://doi.org/10.1007/s13760-025-02795-y","url":null,"abstract":"<p><p>Mirror movements (MM) are involuntary, symmetrical motor actions that accompany voluntary movements of the opposite limb, arising from disruptions in corticospinal tract function and interhemispheric communication. While physiological MM occur transiently in early childhood, persistent MM are pathological and may be congenital, linked to genetic mutations affecting axon guidance, or acquired due to neurological injury. This review explores the epidemiology, classification, clinical presentation, and underlying neurophysiological mechanisms of MM, emphasizing impaired interhemispheric inhibition and abnormal corticospinal projections. Advances in electrophysiology, neuroimaging, and genetics have improved diagnostic precision, yet standardized assessment protocols remain a challenge. Current treatment strategies include motor rehabilitation, neuromodulation, and assistive interventions, with emerging approaches such as genetic therapies showing promise. A multidisciplinary framework integrating clinical, genetic, and technological advancements is essential for optimizing management and improving quality of life for individuals with MM. Further research is needed to refine diagnostic tools and explore novel therapeutic targets.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952441","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":"Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.","authors":"María José Abenza-Abildúa, Itziar Palmí-Cortés, Joaquín Ojeda-Ruiz de Luna, Ángeles Gómez-Aceña, Teresa Olmedo-Menchén, Elvira Lanz-Santos","doi":"10.1007/s13760-025-02776-1","DOIUrl":"https://doi.org/10.1007/s13760-025-02776-1","url":null,"abstract":"<p><strong>Introduction: </strong>Cerebellar ataxia-deafness-narcolepsy syndrome (ADCA-DN) is a very rare polymorphic subtype of autosomal dominant ataxia type 1 (ADCA type 1). It begins in adulthood, and may also be associated with other variable symptoms as optic atrophy, cataracts, psychosis, depression or sensory neuropathy.</p><p><strong>Patients and methods: </strong>We present a family diagnosed from the first generation, its phenotypic description and genetic study.</p><p><strong>Clinical cases: </strong>We describe three members of a family with ADCA sydrome. Patient II-2 started at 51 years, with ataxia, tremor, epileptic seizures, cerebellar atrophy, narcolepsy without cataplexy, hearing loss, moderate cognitive impairment. Patient III-1 started at 42 years with narcolepsy with cataplexy, hearing loss and tremor, and patient IV-1 started at 4 years, with mild intellectual disability, and narcolepsy without cataplexy. Genetic test showed a mutation in DNMT1 gene: variant c.1709 C > T; p.Ala570Val in the DNMT1 gene.</p><p><strong>Discussion: </strong>ADCA syndrome has a variable phenotype in a same family. In our experience, this type of ataxia develops narcolepsy as the first sympton in all three cases, with tremor and cognitive impairment, together with tremor and cognitive impairment. Ataxia, despite being a cardinal symptom, does not appear at the onset in younger patients, and hearing loss also seems to develop over the years. Sensory neuropathy is not present in any of the cases studied.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958272","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":"Parietal Intradiploic meningoencephalocele: a case presenting with focal neurological deficits.","authors":"Raquel Falcão de Freitas, Filipa Ferreira de Oliveira, Isa Duarte Barbosa, Leopoldina Pereira, Guilherme Bastos Silva, Filiation","doi":"10.1007/s13760-025-02792-1","DOIUrl":"https://doi.org/10.1007/s13760-025-02792-1","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958314","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":"Comments on \"Cranial nerve palsies in leprosy: a systematic review of published case reports and case series\".","authors":"Ali Beheshti Namdar, Masoud Keikha","doi":"10.1007/s13760-025-02797-w","DOIUrl":"https://doi.org/10.1007/s13760-025-02797-w","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959112","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":"Wallerian degeneration of the middle cerebellar peduncles due to central pontine myelinolysis.","authors":"Natalia Gonzalez, Françoise Piéret, Ana Etxeberria, Frédéric Haven, Michel Gille","doi":"10.1007/s13760-025-02790-3","DOIUrl":"https://doi.org/10.1007/s13760-025-02790-3","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958290","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":"Breathe better, live better: the science of slow breathing and heart rate variability.","authors":"Federica Giorgi, Roberto Tedeschi","doi":"10.1007/s13760-025-02789-w","DOIUrl":"https://doi.org/10.1007/s13760-025-02789-w","url":null,"abstract":"<p><strong>Background: </strong>Slow breathing and heart rate variability (HRV) biofeedback have gained attention as non-invasive methods for enhancing autonomic regulation and promoting vagal tone. These techniques are associated with improvements in cardiovascular, respiratory, and neural outcomes, offering potential therapeutic applications for stress-related and chronic conditions.</p><p><strong>Methods: </strong>A scoping review was conducted by analyzing six studies focusing on slow breathing and HRV biofeedback. The included studies involved healthy adults aged between 18 and 60 years, free from major cardiovascular, respiratory, or neurological disorders. Studies were identified through systematic searches in MEDLINE (PubMed), Scopus, Web of Science, and other databases. Population characteristics, intervention protocols, and outcomes related to HRV, respiratory sinus arrhythmia (RSA), baroreflex sensitivity, and neural synchronization were extracted and synthesized. Interventions were applied both acutely (single or short-term sessions) and chronically (ranging from daily sessions over 4-8 weeks).</p><p><strong>Results: </strong>All six studies demonstrated significant improvements in HRV parameters, particularly the high-frequency (HF) band, reflecting enhanced parasympathetic activity. RSA increased significantly in studies utilizing tailored breathing patterns, especially those emphasizing longer exhalations. Baroreflex sensitivity improved in interventions combining HRV biofeedback and slow breathing, indicating better cardiovascular adaptability. One study reported neural synchronization between HRV and cortical potentials with decelerated breathing. Across studies, these interventions promoted relaxation, enhanced autonomic flexibility, and stabilized cardiovascular function. Autonomic flexibility refers to the dynamic ability of the autonomic nervous system to adapt to internal and external stressors by shifting between sympathetic and parasympathetic dominance.</p><p><strong>Conclusions: </strong>Slow breathing and HRV biofeedback are effective, non-invasive interventions for improving autonomic regulation, vagal tone, and stress resilience. These techniques hold promise for managing chronic conditions and enhancing cardiovascular and mental health. Standardization of protocols and long-term evaluations are needed to optimize clinical implementation.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955283","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":"Clinical characteristics and treatment of patients hospitalized with status migrainosus: a retrospective analysis.","authors":"Xin Wang, Lijuan Zhang, Yali Lai, Yuanyuan Li, Xindong Liu","doi":"10.1007/s13760-025-02785-0","DOIUrl":"https://doi.org/10.1007/s13760-025-02785-0","url":null,"abstract":"<p><strong>Backgrounds: </strong>Status Migrainosus is not rare, but there is still very little research data on this aspect, and treatment and diagnosis face huge challenges.</p><p><strong>Objects: </strong>The purpose of this study was to characterize the clinical characteristics and current treatment status of status migrainosus patients hospitalized in the Department of Neurology.</p><p><strong>Methods: </strong>This retrospective study examined patients with status migrainosus who were hospitalized in the Department of Neurology at a tertiary hospital in Chengdu, China, from August 1, 2015, to July 31, 2024. This study analyzed the demographic characteristics, clinical features, and treatment approaches of these status migrainosus patients.</p><p><strong>Results: </strong>Among the 1,237 patients hospitalized with a primary complaint of headache, 26 were ultimately diagnosed with status migrainosus. Of these status migrainosus patients, 21 patients with complete information were analyzed. The cohort predominantly consisted of middle-aged women, with most reporting moderate to severe headache intensity. The most common triggers identified were lack of sleep (66.7%) and mood disorders (42.8%). The average duration of status migrainosus was 9.3 days. In terms of treatment, NSAIDs were the most frequently administered (95.2%). During hospitalization, the most commonly used oral analgesics were NSAIDs and triptans, while intravenous treatments primarily included dexamethasone and valproic acid. 87.5% (14 out of 16) of the patients received preventive migraine treatment following discharge.</p><p><strong>Conclusion: </strong>The clinical characteristics of Status Migrainosus are generally similar to those of episodic migraine. Treatment to terminate the headache attack often requires the combined use of multiple drugs.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963218","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":"GFPT1-related congenital myasthenic syndrome misdiagnosed as myopathy: clinical and genetic insights.","authors":"Fatma Zehra Calikusu, Emel Oguz-Akarsu, Sebnem Ozemri Sag, Sehime G Temel, Hamdi Necdet Karli","doi":"10.1007/s13760-025-02783-2","DOIUrl":"https://doi.org/10.1007/s13760-025-02783-2","url":null,"abstract":"<p><p>Congenital myasthenic syndrome (CMS) is a rare genetic disorder characterized by neuromuscular junction dysfunction, presenting fluctuating muscle weakness. This study presents a 25-year-old male patient of Turkish origin with suspected CMS due to a glutamine-fructose- 6-phosphate transaminase 1 (GFPT1) mutation, along with familial implications involving his mother and uncle. Clinical, electrophysiologic, and genetic assessments were conducted over several years, revealing progressive weakness predominantly affecting proximal limb muscles. Electrophysiologic studies indicated myogenic involvement, with repetitive nerve stimulation demonstrating significant decrements. Whole-exome sequencing revealed a homozygous GFPT1 mutation in both the patient and his mother. Treatment with acetylcholinesterase inhibitors yielded modest improvement. The study underscores the importance of considering CMS in cases of fluctuating weakness, highlighting diagnostic challenges and the role of genetic testing in familial cases. Further research is warranted to elucidate phenotypic correlations and expand understanding of CMS-associated manifestations.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952896","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":"Efficacy of ocrelizumab versus rituximab in patients with relapsing-remitting multiple sclerosis.","authors":"Nesma Mounir, Nevin Shalaby, Mohamed I Hegazy, Nirmeen Kishk, Hatem Shehata, Shaimaa Abdalaleem Abdalgeleel, Ahmed Mohammed Abdulrahman, Nahla Merghany","doi":"10.1007/s13760-025-02766-3","DOIUrl":"https://doi.org/10.1007/s13760-025-02766-3","url":null,"abstract":"<p><strong>Background: </strong>Ocrelizumab (OCR) and rituximab (RTX) are monoclonal antibodies binding to CD20, inducing B-cell depletion. The randomized controlled trials that compare their effectiveness in people with Multiple sclerosis (pwMS) are still ongoing. This study aims at comparing the efficacy of ocrelizumab (OCR) and rituximab (RTX) in treating pwMS.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study in patients with relapsing remitting multiple sclerosis (RRMS) treated with either OCR or RTX. Patients were recruited from the Kasr Al-Ainy MS research unit (KAMSU) at Cairo University, Egypt. Data was collected at least one year of the first anti-CD20 infusion. The primary outcome was the time to 3-month confirmed disability worsening (3 month-CDW). Secondary outcomes were time to first relapse (TTFR), 3-month confirmed disability improvement (CDI), annualized relapse rate (ARR), and magnetic resonance imaging (MRI) activity.</p><p><strong>Results: </strong>126 patients were included in the analysis: 64 (50.8%) received OCR, and 62 (49.2%) received RTX. There was no significant difference between patients receiving OCR and RTX in CDW (9.37% vs. 11.29%), CDI (21.87% vs. 30.64%), mean ARR (0.21 vs. 0.29). There was no significant difference in TTFR, cumulative hazard of relapses or time to 3 months-CDW between both groups.</p><p><strong>Conclusion: </strong>No difference in efficacy between ocrelizumab and rituximab in treating RRMS.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958082","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}