Acta Neurologica Scandinavica最新文献_第9页

Prognosis and Outcome of Cerebral Sinus Venous Thrombosis—A Multicenter Cohort Study 脑窦静脉血栓形成的预后和结局——一项多中心队列研究

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2023-02-07 DOI: 10.1155/2023/8016006

N. Simaan, A. Honig, H. Hallevi, E. Seyman, O. Rotschild, E. Assayag, A. Filioglo, S. Peretz, R. Mendel, R. Barnea, E. Auriel, S. Aladdin, D. Orion, Khalil Darawsha, Fadi Shbat, R. Leker, J. Molad

{"title":"Prognosis and Outcome of Cerebral Sinus Venous Thrombosis—A Multicenter Cohort Study","authors":"N. Simaan, A. Honig, H. Hallevi, E. Seyman, O. Rotschild, E. Assayag, A. Filioglo, S. Peretz, R. Mendel, R. Barnea, E. Auriel, S. Aladdin, D. Orion, Khalil Darawsha, Fadi Shbat, R. Leker, J. Molad","doi":"10.1155/2023/8016006","DOIUrl":"https://doi.org/10.1155/2023/8016006","url":null,"abstract":"Objectives. Cerebral sinus venous thrombosis (CSVT) is a rare stroke subtype and data regarding prognostic factors to predict outcomes are lacking. Thus, we aimed to identify predictors for outcome among CSVT patients. Materials and Methods. Prospective CSVT databases from four academic medical centers were retrospectively studied. Demographics, clinical presentations, risk factors, radiological, and outcome parameters were compared. Results. Out of 508 patients diagnosed with CSVT, 21 patients (4%) died, and 91 (18.6%) had unfavorable outcome (\u0000 \u0000 mRS\u0000 ≥\u0000 2\u0000 \u0000 ). Age (55.0 vs. 38.5, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ), hypertension (26% vs. 6%, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ), hyperlipidemia (23% vs. 6%, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ), diabetes (17% vs. 4%, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ), malignancy (35% vs. 11%, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ), absence of headache (51% vs. 78%, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ), focal neurological deficit (54% vs. 19%, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ), and ICH (28% vs. 13%, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ) were all associated with unfavorable outcome. After multivariate analysis malignancy (OR 4.2, \u0000 \u0000 p\u0000 =\u0000 0.003\u0000 \u0000 ), the presence of focal neurological deficit (OR 5.2, \u0000 \u0000 p\u0000 <\u0000 0.001\u0000 \u0000 ) and the presence of headache upon presentation (OR 0.334, \u0000 \u0000 p\u0000 =\u0000 0.018\u0000 \u0000 ) remained significant predictors for favorable outcome. Conclusions. Among CSVT patients, malignancy, focal neurological deficits, and absence of headache at presentation were associated with unfavorable outcomes.","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42518019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Perampanel Monotherapy for Focal and Generalized Epilepsy in Clinical Practice Perampanel单药治疗局灶性和全身性癫痫的临床实践

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2023-02-07 DOI: 10.1155/2023/2852853

Y. Chinvarun, Rafael Toledano Delgado, Alexandra Astner-Rohracher, T. Wehner, M. Toledo, S. Matricardi, E. Trinka, M. Malhotra, Oliver Shastri, V. Villanueva

{"title":"Perampanel Monotherapy for Focal and Generalized Epilepsy in Clinical Practice","authors":"Y. Chinvarun, Rafael Toledano Delgado, Alexandra Astner-Rohracher, T. Wehner, M. Toledo, S. Matricardi, E. Trinka, M. Malhotra, Oliver Shastri, V. Villanueva","doi":"10.1155/2023/2852853","DOIUrl":"https://doi.org/10.1155/2023/2852853","url":null,"abstract":"Objectives. To investigate the effectiveness, safety, and tolerability of perampanel (PER) when used as monotherapy to treat focal or generalized epilepsy in everyday clinical practice, using data from the PERMIT study. Methods. PERMIT was a pooled analysis of 44 real-world studies from 17 countries, in which people with focal and generalized epilepsy were treated with PER. This post hoc analysis included people with epilepsy (PWE) from PERMIT who were treated with PER monotherapy at baseline. Retention and effectiveness were assessed after 3, 6, and 12 months. Effectiveness assessments included ≥50% responder rate and seizure freedom rate (no seizures since at least the prior visit). Safety and tolerability were assessed by evaluating adverse events (AEs) and discontinuation due to AEs. Results. Overall, 268 PWE were treated with PER monotherapy at baseline. Retention was assessed for 168 PWE, effectiveness for 183 PWE, and safety and tolerability for 197 PWE. Retention rates were 91.1%, 87.3%, and 73.3% at 3, 6, and 12 months, respectively. At 12 months, responder rates were 84.2% overall, 82.9% in PWE with only focal-onset seizures at baseline, and 88.0% in those with only generalized-onset seizures at baseline; corresponding freedom rates were 62.9%, 57.7%, and 80.0%, respectively. AEs were reported for 45.2% of PWE. The most frequently reported AEs (≥5% of PWE) were dizziness/vertigo (16.8%), irritability (11.2%), somnolence (9.1%), and depression (6.6%). Over 12 months, 13.7% discontinued due to AEs. Conclusions. PER was effective when used as monotherapy in clinical practice, particularly in those with generalized-onset seizures, and was generally well tolerated.","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"44 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41266981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Mutation Screening of MED27 in a Large Dystonia Cohort MED27在肌张力障碍大队列中的突变筛选

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2023-02-07 DOI: 10.1155/2023/4967173

Junyu Lin, Chunyu Li, Yanbing Hou, Lingyu Zhang, R. Ou, Q. Wei, Kuncheng Liu, Yi Xiao, Q. Jiang, H. Shang

{"title":"Mutation Screening of MED27 in a Large Dystonia Cohort","authors":"Junyu Lin, Chunyu Li, Yanbing Hou, Lingyu Zhang, R. Ou, Q. Wei, Kuncheng Liu, Yi Xiao, Q. Jiang, H. Shang","doi":"10.1155/2023/4967173","DOIUrl":"https://doi.org/10.1155/2023/4967173","url":null,"abstract":"Objectives. Recently, biallelic variants in MED27 have been identified to correlate with complex dystonia. However, no replicative study has been conducted in larger dystonia cohorts. In this study, we aimed to systematically evaluate the genetic associations of MED27 with dystonia in a large dystonia cohort. Materials and Methods. We analyzed rare variants (minor allele \u0000 \u0000 frequency\u0000 <\u0000 0.01\u0000 \u0000 ) of MED27 in a large Chinese dystonia cohort with whole exome sequencing. The overrepresentation of rare variants in patients was examined with Fisher’s exact test at allele and gene levels. Results. A total of 688 patients with dystonia were included in the study, including 483 isolated dystonia, 133 combined dystonia, and 72 complex dystonia. The average age at onset (SD) was 34.3 (19.1) years old. After applying filtering criteria, five rare variants, namely, p.R247H, p.P174A, p.P123A, p.L120F, and p.F56C, were identified in six individuals. All of them carried the variant in the heterozygous form, and no patients with compound heterozygous or homozygous alleles were identified. At allele level, no variant was associated with risk of dystonia. Gene-based burden analysis did not detect enrichment of rare variants of MED27 in dystonia either. Conclusion. Variants of MED27 were rare in Chinese dystonia patients, probably because that mutations in MED27 are more associated with more complex neurodevelopmental disorders that can also include dystonia among the various neurological features. Further studies are needed to confirm the role of MED27 in dystonia and other neurological disorders.","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46130269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Advances in sudden unexpected death in epilepsy 癫痫猝死研究进展

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2022-11-10 DOI: 10.1111/ane.13715

Haiting Zhao, Lili Long, Bo Xiao

引用次数: 9

Non-convulsive seizures and non-convulsive status epilepticus in neuro-intensive care unit 神经重症监护室的非惊厥性癫痫发作和非惊厥性持续状态

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2022-10-26 DOI: 10.1111/ane.13718

Xuan Wang, Fang Yang, Beibei Chen, Wen Jiang

引用次数: 3

Positron emission tomography in autoimmune encephalitis: Clinical implications and future directions 自身免疫性脑炎的正电子发射断层扫描:临床意义和未来方向

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2022-10-19 DOI: 10.1111/ane.13717

Gongfei Li, Xiao Liu, Tingting Yu, Jiechuan Ren, Qun Wang

{"title":"Positron emission tomography in autoimmune encephalitis: Clinical implications and future directions","authors":"Gongfei Li, Xiao Liu, Tingting Yu, Jiechuan Ren, Qun Wang","doi":"10.1111/ane.13717","DOIUrl":"10.1111/ane.13717","url":null,"abstract":"18F-fluoro-deoxyglucose position emission tomography (18F-FDG-PET) has been proven as a sensitive and reliable tool for diagnosis of autoimmune encephalitis (AE). More attention was paid to this kind of imaging because of the shortage of MRI, EEG, and CSF findings. FDG-PET has been assessed in a few small studies and case reports showing apparent abnormalities in cases where MRI does not. Here, we summarized the patterns (specific or not) in AE with different antibodies detected and the clinical outlook for the wide application of FDG-PET considering some limitations. Specific patterns based on antibody subtypes and clinical symptoms were critical for identifying suspicious AE, the most common of which was the anteroposterior gradient in anti- N -methyl- d -aspartate receptor (NMDAR) encephalitis and the medial temporal lobe hypermetabolism in limbic encephalitis. And the dynamic changes of metabolic presentations in different phases provided us the potential to inspect the evolution of AE and predict the functional outcomes. Except for the visual assessment, quantitative analysis was recently reported in some voxel-based studies of regions of interest, which suggested some clues of the future evaluation of metabolic abnormalities. Large prospective studies need to be conducted controlling the time from symptom onset to examination with the same standard of FDG-PET scanning.","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"146 6","pages":"708-715"},"PeriodicalIF":3.5,"publicationDate":"2022-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40341648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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: 1

Seizure detection based on wearable devices: A review of device, mechanism, and algorithm 基于可穿戴设备的癫痫检测:设备、机制和算法综述

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2022-10-18 DOI: 10.1111/ane.13716

Wen Li, Guangming Wang, Xiyuan Lei, Duozheng Sheng, Tao Yu, Gang Wang

{"title":"Seizure detection based on wearable devices: A review of device, mechanism, and algorithm","authors":"Wen Li, Guangming Wang, Xiyuan Lei, Duozheng Sheng, Tao Yu, Gang Wang","doi":"10.1111/ane.13716","DOIUrl":"10.1111/ane.13716","url":null,"abstract":"With sudden and unpredictable nature, seizures lead to great risk of the secondary damage, status epilepticus, and sudden unexpected death in epilepsy. Thus, it is essential to use a wearable device to detect seizure and inform patients' caregivers for assistant to prevent or relieve adverse consequence. In this review, we gave an account of the current state of the field of seizure detection based on wearable devices from three parts: devices, physiological activities, and algorithms. Firstly, seizure monitoring devices available in the market primarily involve wristband-type devices, patch-type devices, and armband-type devices, which are able to detect motor seizures, focal autonomic seizures, or absence seizures. Secondly, seizure-related physiological activities involve the discharge of brain neurons presented, autonomous nervous activities, and motor. Plenty of studies focus on features from one signal, while it is a lack of evidences about the change of signal coupling along with seizures. Thirdly, the seizure detection algorithms developed from simple threshold method to complicated machine learning and deep learning, aiming at distinguish seizures from normal events. After understanding of some preliminary studies, we will propose our own thought for future development in this field.","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"146 6","pages":"723-731"},"PeriodicalIF":3.5,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40338411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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: 1

Potassium channels and epilepsy 钾通道与癫痫

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2022-10-12 DOI: 10.1111/ane.13695

Kai Gao, Zehong Lin, Sijia Wen, Yuwu Jiang

{"title":"Potassium channels and epilepsy","authors":"Kai Gao, Zehong Lin, Sijia Wen, Yuwu Jiang","doi":"10.1111/ane.13695","DOIUrl":"10.1111/ane.13695","url":null,"abstract":"With the development and application of next-generation sequencing technology, the aetiological diagnosis of genetic epilepsy is rapidly becoming easier and less expensive. Additionally, there is a growing body of research into precision therapy based on genetic diagnosis. The numerous genes in the potassium ion channel family constitute the largest family of ion channels: this family is divided into different subtypes. Potassium ion channels play a crucial role in the electrical activity of neurons and are directly involved in the mechanism of epileptic seizures. In China, scientific research on genetic diagnosis and studies of precision therapy for genetic epilepsy are progressing rapidly. Many cases of epilepsy caused by mutation of potassium channel genes have been identified, and several potassium channel gene targets and drug candidates have been discovered. The purpose of this review is to briefly summarize the progress of research on the precise diagnosis and treatment of potassium ion channel-related genetic epilepsy, especially the research conducted in China. Here in, we review several large cohort studies on the genetic diagnosis of epilepsy in China in recent years, summarized the proportion of potassium channel genes. We focus on the progress of precison therapy on some hot epilepsy related potassium channel genes: KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNQ2, KCNQ3, KCNMA1, and KCNT1.","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"146 6","pages":"699-707"},"PeriodicalIF":3.5,"publicationDate":"2022-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33502257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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: 8

Progress in pathogenesis and therapy of Rasmussen's encephalitis 拉斯穆森脑炎的发病机制及治疗进展

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2022-10-03 DOI: 10.1111/ane.13712

Chongyang Tang, Wei Yang, Guoming Luan

{"title":"Progress in pathogenesis and therapy of Rasmussen's encephalitis","authors":"Chongyang Tang, Wei Yang, Guoming Luan","doi":"10.1111/ane.13712","DOIUrl":"10.1111/ane.13712","url":null,"abstract":"Rasmussen's encephalitis (RE) is a rare condition of unknown etiology that causes a severe chronically neurological disorder with mostly affecting children. The main clinical feature of RE includes frequent seizures with drug-resistant, unilateral hemispheric atrophy, and progressive neurological deficits. In this review, we summarized five pathogenesis on the basis of the current research including virus infection, antibody-mediated degeneration, cell-mediated immunity, microglia-induced degeneration, and genetic mutations. So far, no exact virus in RE brain tissue or definite antigen in humoral immune system was confirmed as the determined etiology. The importance of cytotoxic CD8+ T lymphocytes and activated microglial and the role of their immune mechanism in RE development are gradually emerging with the deep study. Genetic researches support the notion that the pathogenesis of RE is probably associated with single nucleotide polymorphisms on immune-related genes, which is driven by affecting inherent antiretroviral innate immunity. Recent advances in treatment suggest immunotherapy could partially slows down the progression of RE according to the histopathology and clinical presentation, which aimed at the initial damage to the brain by T cells and microglia in the early stage. However, the cerebral hemispherectomy is an effective means to controlling the intractable seizure, which is accompanied by neurological complications inevitably. So, the optimal timing for surgical intervention is still a challenge for RE patient. On the contrary, exploration on other aspects of pathogenesis such as dysfunction of adenosine system may offer a new therapeutic option for the treatment of RE in future.","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"146 6","pages":"761-766"},"PeriodicalIF":3.5,"publicationDate":"2022-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40393637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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: 1

Blood based biomarkers for movement disorders 运动障碍的血液生物标志物

IF 3.5 3区医学

Acta Neurologica Scandinavica Pub Date : 2022-09-26 DOI: 10.1111/ane.13700

Huw R. Morris

{"title":"Blood based biomarkers for movement disorders","authors":"Huw R. Morris","doi":"10.1111/ane.13700","DOIUrl":"10.1111/ane.13700","url":null,"abstract":"Movement disorders have been carefully clinically defined, based on clinico-pathological series; however there is often diagnostic and prognostic uncertainty, especially in early stage disease. Blood-based biomarkers for Alzheimer's disease (AD), particularly p-tau181 and p-tau217, may be useful in the movement disorder clinic, especially in identifying corticobasal syndrome due to AD pathology and in identifying Parkinson's disease (PD) patients at high risk for the future development of dementia. Serum or plasma neurofilament light (NfL) may be useful in separating Parkinson's plus syndromes (progressive supranuclear palsy—PSP, multiple system atrophy – MSA, and corticobasal syndrome—CBS) from PD. NfL is also a prognostic biomarker, in that the level of baseline or cross-sectional plasma/serum NfL is associated with a worse prognosis in PD and PSP. The development of protein aggregation assays in cerebrospinal fluid and multiplex assays which can measure 100 s-1000s of proteins in blood will provide new tools and insights for movement disorders for clinicians and researchers. The challenge is in efficiently integrating these tools into clinical practice and multi-modal approaches, where biomarkers are combined with clinical, genetic, and imaging data may guide the future use of these technologies.","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"146 4","pages":"353-361"},"PeriodicalIF":3.5,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2a/6f/ANE-146-353.PMC9828103.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10511841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6