Acta neurologica Belgica最新文献_第4页

Cerebrospinal fluid biomarkers of efficacy in patients affected by spinal muscular atrophy type 1 treated with nusinersen. nusinersen治疗1型脊髓性肌萎缩患者脑脊液生物标志物的疗效。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-05-03 DOI: 10.1007/s13760-025-02784-1

Maria Sframeli, Francesca Polito, Gianluca Vita, Vincenzo Macaione, Eloisa Gitto, Giuseppe Vita, M'hammed Aguennouz, Sonia Messina

{"title":"Cerebrospinal fluid biomarkers of efficacy in patients affected by spinal muscular atrophy type 1 treated with nusinersen.","authors":"Maria Sframeli, Francesca Polito, Gianluca Vita, Vincenzo Macaione, Eloisa Gitto, Giuseppe Vita, M'hammed Aguennouz, Sonia Messina","doi":"10.1007/s13760-025-02784-1","DOIUrl":"10.1007/s13760-025-02784-1","url":null,"abstract":"Background: The advent of new therapies, such as the antisense oligonucleotide nusinersen, has significantly improved the natural course of spinal muscular atrophy (SMA). Tau proteins and neurofilaments are well known markers of neuro-axonal damages. The neurofilament light protein (NfL) has been proposed as a possible biomarker in SMA. This study aimed to investigate the role of total-tau (t-tau), phosphorylated tau at 181 sites (p-tau 181), NfL, and phosphorylated neurofilament heavy chain (pNfH) proteins as potential cerebrospinal fluid (CSF) biomarkers of disease severity and/or nusinersen treatment response in 14 SMA type 1 patients with a wide age range (2-156 months).Methods and results: Motor functions were assessed using the \"Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders\" (CHOP-INTEND) scale at baseline, six months and ten months after treatment. Eight out of 14 patients showed motor improvement. At baseline CSF t-tau and p-tau181 concentration showed a significant negative correlation with age (p = 0.0002 and p = 0.0054 respectively) and a positive correlation with the CHOP-INTEND score (p = 0.0075 and p = 0.0342, respectively). After treatment the tau biomarkers did not show any change, whereas NfL and pNfH concentration significantly decreased (p = 0.0001). The NfL concentration decline correlated to age at baseline (p < 0.05) and to the improvement of the CHOP-INTEND motor score, in the subgroup of patients with a functional improvement above 3 points (p < 0.05).Conclusions: CSF neurofilaments and particularly NfL may bepromising biomarkers for monitoring treatment response to nusinersen, both in younger and older patients with severe SMA.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"819-827"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960646","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

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. 致编辑的信，内容涉及 Ibrahim Serag 等人撰写的 "慢性硬膜下血肿术后抬高床头位与仰卧位的对比：系统回顾和荟萃分析"。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-11-14 DOI: 10.1007/s13760-024-02687-7

Rodrigo Batata, Vasco Sá Pinto, Sérgio Sousa, Eduardo Cunha, Alfredo Calheiros

引用次数: 0

Rethinking the diagnostic value of thymic CT in ocular myasthenia gravis. 重新思考胸腺CT对眼部重症肌无力的诊断价值。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-12-27 DOI: 10.1007/s13760-024-02716-5

Hung Youl Seok

引用次数: 0

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

Non convulsive status epilepticus caused by panhypopituitarism. 全垂体功能低下引起的非惊厥性癫痫持续状态。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-12-30 DOI: 10.1007/s13760-024-02714-7

Ibrahim Ben Razek, Olivier Bodart

引用次数: 0

Ameliorating freezing of gait with levodopa treatment: a lesson from an illustrative case of progressive supranuclear palsy. 左旋多巴治疗改善步态冻结：一个进行性核上性麻痹的实例。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-12-18 DOI: 10.1007/s13760-024-02697-5

Jung E Park, Jihwan You, Rae On Kim, Kyum-Yil Kwon

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

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

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