Journal of Central Nervous System Disease最新文献

{"title":"Cerebellar pathology in multiple sclerosis and experimental autoimmune encephalomyelitis: current status and future directions.","authors":"Dain L Maxwell, Jacqueline M Orian","doi":"10.1177/11795735231211508","DOIUrl":"10.1177/11795735231211508","url":null,"abstract":"<p><p>Recent decades have witnessed significant progress in understanding mechanisms driving neurodegeneration and disease progression in multiple sclerosis (MS), but with a focus on the cerebrum. In contrast, there have been limited studies of cerebellar disease, despite the common occurrence of cerebellar symptoms in this disorder. These rare studies, however, highlight the early cerebellar involvement in disease development and an association between the early occurrence of cerebellar lesions and risk of worse prognosis. In parallel developments, it has become evident that far from being a region specialized in movement control, the cerebellum plays a crucial role in cognitive function, via circuitry connecting the cerebellum to association areas of the cerebrum. This complexity, coupled with challenges in imaging of the cerebellum have been major obstacles in the appreciation of the spatio-temporal evolution of cerebellar damage in MS and correlation with disability and progression. MS studies based on animal models have relied on an induced neuroinflammatory disease known as experimental autoimmune encephalomyelitis (EAE), in rodents and non-human primates (NHP). EAE has played a critical role in elucidating mechanisms underpinning tissue damage and been validated for the generation of proof-of-concept for cerebellar pathological processes relevant to MS. Additionally, rodent and NHP studies have formed the cornerstone of current knowledge of functional anatomy and cognitive processes. Here, we propose that improved insight into consequences of cerebellar damage in MS at the functional, cellular and molecular levels would be gained by more extensive characterization of EAE cerebellar pathology combined with the power of experimental paradigms in the field of cognition. Such combinatorial approaches would lead to improved potential for the development of MS sensitive markers and evaluation of candidate therapeutics.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735231211508"},"PeriodicalIF":4.8,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71521602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional MRI and Diffusion Tensor Imaging in Migraine: A Review of Migraine Functional and White Matter Microstructural Changes.","authors":"Brendon C Chou, Alexander Lerner, Giuseppe Barisano, Daniel Phung, Wilson Xu, Soniya N Pinto, Nasim Sheikh-Bahaei","doi":"10.1177/11795735231205413","DOIUrl":"10.1177/11795735231205413","url":null,"abstract":"<p><p>Migraine is a complex and heterogenous disorder whose disease mechanisms remain disputed. This narrative review summarizes functional MRI (fMRI) and diffusion tensor imaging (DTI) findings and interprets their association with migraine symptoms and subtype to support and expand our current understanding of migraine pathophysiology. Our PubMed search evaluated and included fMRI and DTI studies involving comparisons between migraineurs vs healthy controls, migraineurs with vs without aura, and episodic vs chronic migraineurs. Migraineurs demonstrate changes in functional connectivity (FC) and regional activation in numerous pain-related networks depending on migraine phase, presence of aura, and chronicity. Changes to diffusion indices are observed in major cortical white matter tracts extending to the brainstem and cerebellum, more prominent in chronic migraine and associated with FC changes. Reported changes in FC and regional activation likely relate to pain processing and sensory hypersensitivities. Diffuse white matter microstructural changes in dysfunctional cortical pain and sensory pathways complement these functional differences. Interpretations of reported fMRI and DTI measure trends have not achieved a clear consensus due to inconsistencies in the migraine neuroimaging literature. Future fMRI and DTI studies should establish and implement a uniform methodology that reproduces existing results and directly compares migraineurs with different subtypes. Combined fMRI and DTI imaging may provide better pathophysiological explanations for nonspecific FC and white matter microstructural differences.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735231205413"},"PeriodicalIF":2.6,"publicationDate":"2023-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10612465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71412377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical diagnostic and radiographic features of primary spinal atypical teratoid rhabdoid tumors tumor in a pediatric patient: A case report and review of the literature.","authors":"Hashim Syed, Nahom Teferi, Alec Hanson, Meron Challa, Kathryn Eschbacher, Patrick Hitchon","doi":"10.1177/11795735231209199","DOIUrl":"10.1177/11795735231209199","url":null,"abstract":"<p><p>Atypical teratoid rhabdoid tumors (ATRTs) are rare embryonal tumors comprising 1-2% of all pediatric CNS neoplasms. Spinal ATRTs are even more uncommon, accounting for 2% of all reported ATRT cases. Despite their rarity, ATRTs affect young children disproportionately and are characterized by a high malignant potential due to a heterogeneous cellular composition and inactivating mutations in the <i>SMARCB1</i> (90%) and <i>SMARCA4</i> (10%) genes. A 15-month-old female presented with a 2-week history of decreased lower extremity movement and new-onset need for assistance with ambulation. MRI lumbar spine revealed a contrast-enhancing intradural mass at the L3-L4 level with iso-intensity on T1 and T2 sequences. The patient subsequently underwent subtotal tumor resection (∼80%) given concerns for maintaining neurological function. Final pathology was consistent with spinal ATRT, and she later underwent adjuvant chemoradiation therapy per ACNS0333 protocol. She has since remained in remission with age-appropriate developmental milestones over the past 2 years. ATRTs should be considered in the differential diagnosis of intradural spinal lesions, especially in the pediatric patient population. Clinical course, presentation, and diagnosis is often delayed due to the rarity of these tumors, but contrasted craniospinal MRI is key for diagnosis and histopathology with IHC staining showing loss of INI is confirmatory. While gross total resection is the goal, maximal safe tumor resection should be prioritized in order to preserve neurological function. Adjuvant chemoradiation following gross total/subtotal resection has been shown to significantly improve overall survival.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735231209199"},"PeriodicalIF":4.8,"publicationDate":"2023-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e3/08/10.1177_11795735231209199.PMC10591496.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50158034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The evolution of antiseizure medication therapy selection in adults: Is artificial intelligence -assisted antiseizure medication selection ready for prime time?","authors":"Charlene L Gunasekera,&nbsp;Joseph I Sirven,&nbsp;Anteneh M Feyissa","doi":"10.1177/11795735231209209","DOIUrl":"10.1177/11795735231209209","url":null,"abstract":"<p><p>Antiseizure medications (ASMs) are the mainstay of symptomatic epilepsy treatment. The primary goal of pharmacotherapy with ASMs in epilepsy is to achieve complete seizure remission while minimizing therapy-related adverse events. Over the years, more ASMs have been introduced, with approximately 30 now in everyday use. With such a wide variety, much guidance is needed in choosing ASMs for initial therapy, subsequent replacement monotherapy, or adjunctive therapy. The specific ASMs are typically tailored by the patient's related factors, including epilepsy syndrome, age, sex, comorbidities, and ASM characteristics, including the spectrum of efficacy, pharmacokinetic properties, safety, and tolerability. Weighing these key clinical variables requires experience and expertise that may be limited. Furthermore, with this approach, patients may endure multiple trials of ineffective treatments before the most appropriate ASM is found. A more reliable way to predict response to different ASMs is needed so that the most effective and tolerated ASM can be selected. Soon, alternative approaches, such as deep machine learning (ML), could aid the individualized selection of the first and subsequent ASMs. The recognition of epilepsy as a network disorder and the integration of personalized epilepsy networks in future ML platforms can also facilitate the prediction of ASM response. Augmenting the conventional approach with artificial intelligence (AI) opens the door to personalized pharmacotherapy in epilepsy. However, more work is needed before these models are ready for primetime clinical practice.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735231209209"},"PeriodicalIF":4.8,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6f/56/10.1177_11795735231209209.PMC10586013.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Arterial Spin Labeling in Migraine: A Review of Migraine Categories and Mimics","authors":"Soniya N Pinto, A. Lerner, Daniel Phung, G. Barisano, Brendon Chou, Wilson J Xu, N. Sheikh-Bahaei","doi":"10.1177/11795735231160032","DOIUrl":"https://doi.org/10.1177/11795735231160032","url":null,"abstract":"Migraine is a complex headache characterized by changes in functional connectivity and cerebral perfusion. The perfusion changes represent a valuable domain for targeted drug therapy. Arterial spin labeling is a noncontrast imaging technique of quantifying cerebral perfusion changes in the migraine setting. In this narrative review, we will discuss the pathophysiology of the different categories of migraine, as defined by the International Classification of Headache Disorders-3 and describe a category-based approach to delineating perfusion changes in migraine on arterial spin labeling images. We will also discuss the use of arterial spin labeling to differentiate migraine from stroke and/or seizures in the adult and pediatric populations. Our systematic approach will help improve the understanding of the complicated vascular changes that occur during migraines and identify potential areas of future research.","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"1 1","pages":""},"PeriodicalIF":4.8,"publicationDate":"2023-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42470892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disseminated Aspergillosis in a Patient With Neurosarcoidosis: Persistent Contrast Enhancement in CNS Despite Prolonged Antifungal Treatment: A Case Report.","authors":"Lakshman Arcot Jayagopal,&nbsp;Afsaneh Shirani,&nbsp;Kelly Cawcutt,&nbsp;Jie Chen,&nbsp;Ana Yuil-Valdes,&nbsp;Rana Zabad","doi":"10.1177/11795735231195756","DOIUrl":"https://doi.org/10.1177/11795735231195756","url":null,"abstract":"<p><p>A 56-year-old Caucasian man was diagnosed with definite neurosarcoidosis after he presented with progressive bilateral lower extremity weakness and dysesthesia. He was started on a combination immunosuppressant regimen of dexamethasone, methotrexate and infliximab. Two months into treatment with immunosuppressants, he developed devastating disseminated aspergillosis which clinically stabilized with aggressive antifungal treatment however had a protracted radiological course despite prolonged anti-fungal treatment for over two years. Interestingly, he remained in remission from neurosarcoidosis off immunosuppression during the same period. This case emphasizes need for vigilance for fungal infections in patients treated with combination immunosuppressive therapy particularly TNF-α inhibitors such as infliximab.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735231195756"},"PeriodicalIF":4.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/2d/10.1177_11795735231195756.PMC10423447.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10295285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurofilament light is associated with clinical outcome and hemorrhagic transformation in moderate to severe ischemic stroke.","authors":"Wanakorn Rattanawong,&nbsp;Tatchaporn Ongphichetmetha,&nbsp;Thiravat Hemachudha,&nbsp;Poosanu Thanapornsangsuth","doi":"10.1177/11795735221147212","DOIUrl":"https://doi.org/10.1177/11795735221147212","url":null,"abstract":"<p><strong>Background: </strong>Ischemic stroke is a leading cause of morbidity and mortality worldwide. One possible predictor is the use of biomarkers especially neurofilament light chain (NFL).</p><p><strong>Objectives: </strong>To explore whether NFL could predict clinical outcome and hemorrhagic transformation in moderate to severe stroke.</p><p><strong>Design: </strong>Single center prospective cohort study.</p><p><strong>Methods: </strong>Fifty-one moderate to severe ischemic stroke patients were recruited. Blood NFL was obtained from patients at admission (First sample) and 24-96 hours later (Second sample). NFL was analyzed with the ultrasensitive single molecule array (Simoa). Later, we calculated incremental rate NFL (IRN) by changes in NFL per day from baseline. We evaluated National Institute of Health stroke scale (NIHSS), modified Rankins score (mRs), and the presence of hemorrhagic transformation (HT).</p><p><strong>Results: </strong>IRN was found to be higher in patients with unfavorable outcome (7.12 vs 24.07, <i>P</i> = .04) as well as Second sample (49.06 vs 71.41, <i>P</i> = .011), while NFL First sample was not significant. IRN had a great correlation with mRS (r = .552, <i>P</i> < .001). Univariate logistic regression model showed OR of IRN and Second sample to be 1.081 (95% CI 1.016-1.149, <i>P</i> = .013) and 1.019 (1.002-1.037, <i>P</i> = .03), respectively. Multiple logistic regression model has shown to be significant. In receiver operating analysis, IRN, Second sample, combined IRN with NIHSS and combined Second sample with NIHSS showed AUC (.744, <i>P</i> = .004; 0.713, <i>P</i> = .01; 0.805, <i>P</i> < .001; 0.803, <i>P</i> < .001, respectively). For HT, First sample and Second sample had significant difference with HT (Z = 2.13, <i>P</i> = .033; Z = 2.487, <i>P</i> = .013, respectively).</p><p><strong>Conclusion: </strong>NFL was found to correlate and predict clinical outcome. In addition, it was found to correlate with HT.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735221147212"},"PeriodicalIF":4.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f1/59/10.1177_11795735221147212.PMC9827527.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10529562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Benefit of Vagus Nerve Stimulation for Epilepsy: Assessment of Randomized Controlled Trials and Prospective Non-Randomized Studies.","authors":"Samuel W Cramer,&nbsp;Robert A McGovern,&nbsp;Clark C Chen,&nbsp;Michael C Park","doi":"10.1177/11795735231151830","DOIUrl":"https://doi.org/10.1177/11795735231151830","url":null,"abstract":"<p><p>We examined the efficacy of vagal nerve stimulation (VNS) for patients suffering from medically intractable epilepsy. Four randomized controlled trials (RCTs - 3 adult RCTs and 1 pediatric RCT) were identified in our comprehensive literature search. Across the 4 studies, high frequency VNS stimulation (frequency >20 Hz) consistently achieved a greater seizure frequency reduction (23.4-33.1%) relative to low frequency VNS stimulation (1 Hz, .6-15.2%). We identified 2 RCTs examining whether the parameters of stimulation influenced seizure control. These studies reported that VNS achieved seizure control comparable to those reported by the first 4 RCTs (22-43% seizure frequency reduction), irrespective of the parameters utilized for VNS stimulation. In terms of VNS associated morbidity, these morbidities were consistently higher in adults who underwent high frequency VNS stimulation (eg dysphonia 37-66%, dyspnea 6-25.3%). However, no such differences were observed in the pediatric population. Moreover, <2% of patients withdrew from the RCTs/prospective studies due to intolerable symptoms. To provide an assessment of how the risks and benefits of VNS impact the patient experience, 1 study assessed the well-being of enrolled patients (as a secondary end point) and found VNS was associated with an overall improvement in well-being. Consistent with this observation, we identified a prospective, non-randomized study that demonstrated improved quality of life for epilepsy patients managed with VNS and best medical practice relative to best medical practice alone. In aggregate, these RCT studies support the efficacy and benefit of VNS as a neuro-modulatory platform in the management of a subset of medically refractory epilepsy patients.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735231151830"},"PeriodicalIF":4.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4e/92/10.1177_11795735231151830.PMC9841854.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9100304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Structural MRI in Migraine: A Review of Migraine Vascular and Structural Changes in Brain Parenchyma.","authors":"Wilson J Xu,&nbsp;Giuseppe Barisano,&nbsp;Daniel Phung,&nbsp;Brendon Chou,&nbsp;Soniya N Pinto,&nbsp;Alexander Lerner,&nbsp;Nasim Sheikh-Bahaei","doi":"10.1177/11795735231167868","DOIUrl":"https://doi.org/10.1177/11795735231167868","url":null,"abstract":"<p><p>Migraine is a complex and common disorder that affects patients around the world. Despite recent advances in this field, the exact pathophysiology of migraine is still not completely understood. Structural MRI sequences have revealed a variety of changes to brain parenchyma associated with migraine, including white matter lesions, volume changes, and iron deposition. This Review highlights different structural imaging findings in various types of migraine and their relationship to migraine characteristics and subtypes in order to improve our understanding of migraine, its pathophysiologic mechanisms, and how to better diagnose and treat it.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735231167868"},"PeriodicalIF":4.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/15/72/10.1177_11795735231167868.PMC10108417.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9383918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurological Phenotypes of <i>IRF2BPL</i> Gene Variants: A Report of Four Novel Variants.","authors":"Dafne Dain Gandelman Horovitz,&nbsp;Maria Angelica de Faria Domingues de Lima,&nbsp;Lais de Carvalho Pires,&nbsp;Abelardo de Queiroz Campos Araujo,&nbsp;Fernando Regla Vargas","doi":"10.1177/11795735231181467","DOIUrl":"https://doi.org/10.1177/11795735231181467","url":null,"abstract":"<p><p><i>IRF2BPL</i> gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"15 ","pages":"11795735231181467"},"PeriodicalIF":4.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/84/cc/10.1177_11795735231181467.PMC10280516.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10291251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}