Acta neurologica Belgica最新文献_第5页

Two remarkable cases of haploinsufficiency found in the DYRK1A gene. 在 DYRK1A 基因中发现两例显著的单倍体缺陷。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-11-21 DOI: 10.1007/s13760-024-02685-9

Elifcan Taşdelen, Umut Can Tekbaş, Hasan Baş, Abdullah Sezer

{"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":"10.1007/s13760-024-02685-9","url":null,"abstract":"Introduction: 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.Case presentation: 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.Conclusion: 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.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"839-843"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","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}

引用次数: 0

A case of fatal cerebral air embolism in a patient with Osler-Weber-Rendu Disease. 奥斯勒-韦伯-伦度病致死性脑空气栓塞1例。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-01-18 DOI: 10.1007/s13760-025-02726-x

Aude Mahaux, Madeleine Scrivener, Susana Ferrão-Santos, Ludovic Gérard, João Pinto Pereira

引用次数: 0

Expression levels of protein inhibitor of activated STAT (PIAS) family genes in Parkinson's disease patients: results from a case-control study. 帕金森病患者活化 STAT 蛋白抑制剂（PIAS）家族基因的表达水平：一项病例对照研究的结果。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-02-28 DOI: 10.1007/s13760-025-02752-9

Fariba Akbari Gavabari, Mohsen Rastegari-Pouyani, Saeid Afshar, Mehrdokht Mazdeh, Armin Bahramian, Siamak Shahidi, Elahe Talebi-Ghane, Mahsa Chalabi, Mohammad Mahdi Eftekharian

{"title":"Expression levels of protein inhibitor of activated STAT (PIAS) family genes in Parkinson's disease patients: results from a case-control study.","authors":"Fariba Akbari Gavabari, Mohsen Rastegari-Pouyani, Saeid Afshar, Mehrdokht Mazdeh, Armin Bahramian, Siamak Shahidi, Elahe Talebi-Ghane, Mahsa Chalabi, Mohammad Mahdi Eftekharian","doi":"10.1007/s13760-025-02752-9","DOIUrl":"10.1007/s13760-025-02752-9","url":null,"abstract":"Background: Parkinson's disease (PD) is one of the most common progressive neurological disorders characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. In recent years, PIAS family proteins have been proposed as key factors in the development of neurodegenerative diseases. The aim of this study was to investigate the expression levels of PIAS family genes in patients with PD and compare them with those in the healthy control group.Methods: The expression of PIAS family genes in the peripheral blood cells was investigated by RT-qPCR technique and the results were statistically analyzed using R software.Results: PIAS4 gene expression was significantly lower in PD patients compared to the control group (p = 0.016), while we found no significant change in the expression of other PIAS genes between PD patients and healthy control group. Considering gender, the expression of PIAS3 was higher in males than that in females (p = 0.024). Also, significant downregulations in PIAS3 and PIAS4 genes were observed with increasing age, especially in men regardless of being patient or healthy (p = 0.04 and 0.001, respectively). In the correlation analysis, there were significant positive pairwise correlations between PIAS family members. Also, significant negative correlations between the expression of PIAS3 and PIAS4 genes with age were found.Conclusion: These findings show that part of the disruption of immune system regulation occurring in PD is probably related to the expression of PIAS family genes and that these proteins, especially PIAS4, can play an important role in the inflammatory and pathophysiological mechanisms of PD.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"727-735"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522406","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 Cox's hazard model for new development of medication overuse headache in pure chronic migraine patients under migraine prophylaxis. 单纯慢性偏头痛患者用药过度头痛新进展的Cox风险模型。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-03-26 DOI: 10.1007/s13760-025-02765-4

Alessandro Viganò, Barbara Petolicchio, Massimiliano Toscano, Giada Giuliani, Nicholas Diani, Marta Altieri, Vittorio Di Piero

{"title":"A Cox's hazard model for new development of medication overuse headache in pure chronic migraine patients under migraine prophylaxis.","authors":"Alessandro Viganò, Barbara Petolicchio, Massimiliano Toscano, Giada Giuliani, Nicholas Diani, Marta Altieri, Vittorio Di Piero","doi":"10.1007/s13760-025-02765-4","DOIUrl":"10.1007/s13760-025-02765-4","url":null,"abstract":"Background: Medication Overuse Headache (MOH) occurrence during migraine preventive therapy is poorly known. The present study aims at identifying the rate and factors influencing MOH development in patients with Chronic Migraine (CM).Methods: Patients with a diagnosis of CM without MOH were consecutively recruited and followed at least three times for 1 year under preventive therapy. The number of headache days and the use of acute medication were recorded; the occurrence of MOH was considered as the main event. Kaplan-Meier curves were used to determine the time of the event. After the third follow-up patients were censored. Proportional hazards Cox regression was used to identify predictors of MOH among demographic variables (e,g. age), main comorbidities (e.g. sleep disorders, epilepsy, thyroid dysfunctions), migraine features (e.g. aura, number of previous preventive therapies, headache days and number of medications).Results: We recruited 260 first-visit patients with CM. 46 patients (17.70%) developed a new onset of MOH over 1 year, with 35 at the first follow-up. No difference in MOH occurrence was found among different pharmacological groups (Chi-square = 2.99, p = 0.70). About 1/3 of non-responders developed MOH. Monthly headache days, number of acute medications, thyroid dysfunction, epilepsy, and MIDAS score were associated with MOH (Chi-square = 14.08; p = 0.01). Headache days (Wald test: 6.0; p = 0.014) and MIDAS score (Wald test: 4.07, p = 0.04) were the only stand-alone significant factors.Conclusions: The rate of new occurrence of MOH in patients without a previous history is 18%. Monthly number of headache days and MIDAS score are the most important predictors.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"793-800"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708041","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

Effects of non-invasive brain stimulation on arousal and alertness among traumatic brain injury patients with disorders of consciousness or persistent vegetative State: a systematic review. 非侵入性脑刺激对伴有意识障碍或持续植物人状态的创伤性脑损伤患者觉醒和警觉性的影响：一项系统综述。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-04-29 DOI: 10.1007/s13760-025-02794-z

Nidhi Sharma, Aksh Chahal, Richa Hirendra Rai, Bartosz Maciej Wójcik, Bushra J Alfaifi, Krishna Reddy Vajrala, Mohammad Sidiq, Abhishek Sharma

{"title":"Effects of non-invasive brain stimulation on arousal and alertness among traumatic brain injury patients with disorders of consciousness or persistent vegetative State: a systematic review.","authors":"Nidhi Sharma, Aksh Chahal, Richa Hirendra Rai, Bartosz Maciej Wójcik, Bushra J Alfaifi, Krishna Reddy Vajrala, Mohammad Sidiq, Abhishek Sharma","doi":"10.1007/s13760-025-02794-z","DOIUrl":"10.1007/s13760-025-02794-z","url":null,"abstract":"Introduction: Traumatic brain injury (TBI) often leads to disorders of consciousness (DOC) or persistent vegetative state (PVS), characterized by impaired arousal and awareness. Non-invasive brain stimulation (NIBS) techniques have shown promise in modulating cortical excitability and potentially enhancing arousal and alertness in these patients. This systematic review aims to synthesize existing literature on the effects of NIBS on arousal and alertness among TBI patients with DOC or PVS.Methods: A systematic search was conducted across multiple databases for studies investigating the use of NIBS techniques such as transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) in TBI patients with DOC or PVS. Studies were included if they assessed changes in arousal or alertness following NIBS intervention. Data extraction and quality assessment were performed using predefined criteria.Results: A total of 11 studies with 475 patients (mean age 46.21 ± 12.31 years) met the inclusion criteria and were included in the review. The majority of studies utilized TMS or tDCS as the NIBS modality. Findings suggest that NIBS may lead to improvements in arousal and alertness among TBI patients with DOC or PVS. However, the magnitude and duration of these effects varied across studies.Conclusion: Non-invasive brain stimulation shows promise as a potential intervention for enhancing arousal and alertness in TBI patients with DOC or PVS. Further well-controlled studies are warranted to elucidate optimal stimulation parameters, long-term effects, and potential synergies with other rehabilitation approaches.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"661-678"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960027","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

Delayed detection of an ovarian teratoma three years after Anti-NMDAR encephalitis onset: when should tumor surveillance end, and is resection necessary in stable cases? 抗nmdar脑炎发病3年后延迟发现卵巢畸胎瘤：肿瘤监测何时结束，稳定病例是否需要切除？

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-05-30 DOI: 10.1007/s13760-025-02819-7

Yuya Kobayashi, Chinami Yuzawa, Kazuki Kasuga, Yusaku Shimizu, Yoshiki Sekijima

引用次数: 0

Determinants of clinical response in possible normal pressure hydrocephalus. 可能的常压脑积水临床反应的决定因素。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-05-30 DOI: 10.1007/s13760-025-02814-y

Nesibe Yıldız Akbulut, Hanife Gülden Düzkalır, Hediye Pınar Günbey, Sare Dilek Özkaptan, Esra Akdeniz, Banu Ozen Barut

{"title":"Determinants of clinical response in possible normal pressure hydrocephalus.","authors":"Nesibe Yıldız Akbulut, Hanife Gülden Düzkalır, Hediye Pınar Günbey, Sare Dilek Özkaptan, Esra Akdeniz, Banu Ozen Barut","doi":"10.1007/s13760-025-02814-y","DOIUrl":"https://doi.org/10.1007/s13760-025-02814-y","url":null,"abstract":"Objectives: This study aims to identify which clinical factors should be considered when determining a diagnosis of probable idiopathic Normal Pressure Hydrocephalus (iNPH) in patients with possible iNPH, and to explore alternative assessments that can complement lower extremity motor evaluations.Patients and methods: We conducted a prospective observational study involving 41 patients with possible iNPH. The assessments included the 10-Meter Walk Test (10MWT), a comprehensive neuropsychological battery, the Finger Tapping Test, and radiological measurements. Patients who exhibited a 20% or greater reduction in 10MWT time following a cerebrospinal fluid (CSF) tap test (TT) were classified as responders; those with less than a 20% reduction were classified as non-responders.Results: Of the 41 patients, 23 were classified as responders. Radiological findings showed no significant differences between the two groups. However, the presence of the DESH (Disproportionately Enlarged Subarachnoid Space Hydrocephalus) sign significantly influenced the rate of change in walking time following lumbar puncture across all patients (p = 0.037). Certain baseline subscores, such as the Clock Drawing and Semantic Fluency tests within the neuropsychological battery, demonstrated significant differences in responders. Most parameters of the Finger Tapping Test showed statistically significant improvements in responders (p = 0.03, p = 0.028), while changes in non-responders were not significant.Conclusion: While radiological features are useful in identifying possible iNPH, they are not predictive of a probable iNPH diagnosis. In contrast, detailed cognitive assessments may help predict responsiveness to the TT without the need for invasive procedures. Additionally, upper extremity motor function tests may serve as valuable tools for detecting TT-related changes in this patient population.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186244","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

Basilar arterial wall enhancement in meningovascular neurosyphilis. 脑膜血管性神经梅毒的基底动脉壁增强。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-05-29 DOI: 10.1007/s13760-025-02801-3

Dimitri Renard, Nadir Al Zouabi, Maria Emilia Tarducci, Teodora Parvu

引用次数: 0

MICU1 myopathy revisited: phenotypic variability in a rare mitochondrial calcium disorder. 重访MICU1肌病：罕见线粒体钙紊乱的表型变异性。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-05-28 DOI: 10.1007/s13760-025-02815-x

Pushkar Pazhani, Jayaram Saibaba, Rajeswari Aghoram, Vaibhav Wadwekar, Ankith K Jayan

引用次数: 0

Coexistence of anti-MOG and anti-MAG antibodies in combined central and peripheral nervous system demyelination: a case of dual myelinopathy. 抗mog和抗mag抗体在中枢和周围神经系统联合脱髓鞘中共存：双髓病1例。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-05-26 DOI: 10.1007/s13760-025-02787-y

Rihab Ben Dhia, Yasmine Saad, Mariem Mhiri, Narjes Gouta, Mahbouba Frih-Ayed

{"title":"Coexistence of anti-MOG and anti-MAG antibodies in combined central and peripheral nervous system demyelination: a case of dual myelinopathy.","authors":"Rihab Ben Dhia, Yasmine Saad, Mariem Mhiri, Narjes Gouta, Mahbouba Frih-Ayed","doi":"10.1007/s13760-025-02787-y","DOIUrl":"https://doi.org/10.1007/s13760-025-02787-y","url":null,"abstract":"Background: Myelin oligodendrocyte glycoprotein-associated disease (MOG-AD) is a central nervous system (CNS) demyelinating disorder linked to anti-MOG antibodies, whereas anti-myelin associated glycoprotein (MAG) antibodies are associated with peripheral nervous system (PNS) demyelination. Their coexistence in a single patient has not been previously reported.Case presentation: We describe a 38-year-old male who developed rapidly progressive paraparesis, visual impairment, and sensory deficits. MRI revealed multifocal CNS demyelinating lesions, while nerve conduction studies later confirmed a demyelinating polyneuropathy. Serum testing showed concurrent anti-MOG and high-titer anti-MAG antibodies. Despite treatment with corticosteroids, IVIg, and plasma exchange, the patient exhibited a severe, relapsing course with persistent disability.Conclusion: This is the first documented case of anti-MOG and anti-MAG antibody coexistence, causing simultaneous CNS and PNS demyelination and suggesting a shared autoimmune mechanism. Anti-MAG antibodies may indicate a more aggressive course, warranting routine testing and intensive therapy. Further research is needed to clarify their pathogenic interplay and refine treatment strategies.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141068","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