Current Treatment Options in Neurology最新文献_第2页

The Effect of Obstructive Sleep Apnea on Cognition: A Focus on Decision-Making 阻塞性睡眠呼吸暂停对认知的影响：关注决策

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-07-08 DOI: 10.1007/s11940-024-00800-y

Elettra Cini, Roberto Salabelle, Maria Salsone, Nicola Canessa, Andrea Galbiati, Luigi Ferini-Strambi

{"title":"The Effect of Obstructive Sleep Apnea on Cognition: A Focus on Decision-Making","authors":"Elettra Cini, Roberto Salabelle, Maria Salsone, Nicola Canessa, Andrea Galbiati, Luigi Ferini-Strambi","doi":"10.1007/s11940-024-00800-y","DOIUrl":"https://doi.org/10.1007/s11940-024-00800-y","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of Review</h3><p>In this review, we discuss the impact of Obstructive Sleep Apnea (OSA), a sleep-related breathing disorder characterized by repetitive episodes of complete cessation of airflow or decreases in airflow due to upper airway obstruction leading to sleep fragmentation, on decision-making. We will first delve into how OSA affects cognition and executive functions, which are pivotal for optimal decision-making. Subsequently, we will explore its impact on decision-making itself. Unveiling these dynamics is crucial to better understand their implications on patients’ well-being, aging, daily functioning, and treatment adherence.</p><h3 data-test=\"abstract-sub-heading\">Recent Findings</h3><p>Previous research suggests that factors such as intermittent hypoxemia and sleep fragmentation may contribute to excessive daytime sleepiness, which is indeed the most prevalent daytime symptom observed in OSA. These factors also impact several neuropsychological domains, such as attention, memory, and executive functions. However, little is known about how OSA affects a complex cognitive domain like decision-making.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Interestingly, compared to control subjects, OSA patients showed impaired decision-making, with the degree of the impairment associated with the severity of the disorder. The heterogeneity of results is ascribable to the utilization of different tasks across studies and the inclusion of patients with different severities of OSA. Future studies are expected to address the neuro-cognitive mechanisms contributing to decision-making impairments in OSA, the precursors of individual differences, and the efficacy of targeted interventions. Longitudinal studies are required to unveil the trajectory of decision-making deficits and their effects on clinical outcomes and quality of life in OSA patients.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"25 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141572668","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

Diagnosis and Management of Progressive Corticobasal Syndrome 进行性皮质基底综合征的诊断与管理

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-06-25 DOI: 10.1007/s11940-024-00797-4

Claire Delpirou Nouh, Kyan Younes

{"title":"Diagnosis and Management of Progressive Corticobasal Syndrome","authors":"Claire Delpirou Nouh, Kyan Younes","doi":"10.1007/s11940-024-00797-4","DOIUrl":"https://doi.org/10.1007/s11940-024-00797-4","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of review</h3><p>The purpose of this review is to discuss the clinical, radiological, and neuropathological heterogeneity of corticobasal syndrome (CBS), which can complicate the determination of underlying etiology and lead to inaccurate treatment decisions. Though the most common diagnosis is corticobasal degeneration (CBD), the spectrum of underlying pathologies expands beyond CBD and can overlap with other neurodegenerative diseases and even the neuroimmunology field. We will review possible clinical presentations and cues that can point towards the etiology. We will also discuss the most recent available biomarkers to facilitate a more accurate diagnosis. Additionally, we will examine current and future potential therapeutic options.</p><h3 data-test=\"abstract-sub-heading\">Recent findings</h3><p>The range of available fluid and neuroimaging biomarkers is increasing and some are already being used in clinical practice. While the treatment of neurodegenerative diseases is largely aimed at managing symptoms, early detection and accurate diagnosis are crucial for initiating early management and enrollment in clinical trials. The recent approval of a disease-modifying therapy for Alzheimer's disease (AD) has raised hopes for the development of more therapeutic options for other proteinopathies. Several candidates are currently being studied in clinical trial pipelines, particularly those targeting tau pathology.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Recent advancements in understanding the genetic and neuropathological diversity of CBS, along with the promising development of fluid and imaging biomarkers, are driving clinical trial research forward, instilling optimism for creating more effective disease-modifying treatments for brain proteinopathies.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"16 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141501610","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

Current Endovascular Treatments in Neuro-Ophthalmology 当前神经眼科的血管内治疗方法

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-06-24 DOI: 10.1007/s11940-024-00799-2

Johanna Yun, Marc Dinkin

{"title":"Current Endovascular Treatments in Neuro-Ophthalmology","authors":"Johanna Yun, Marc Dinkin","doi":"10.1007/s11940-024-00799-2","DOIUrl":"https://doi.org/10.1007/s11940-024-00799-2","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of Review</h3><p>Endovascular interventions have dramatically contemporized neuro-ophthalmological care in the twenty-first century. This review summarizes interventions with their advantages and disadvantages for intracranial aneurysms, carotid cavernous fistulas (CCF), and idiopathic intracranial hypertension (IIH), all of which are encountered in routine neuro-ophthalmologic practice.</p><h3 data-test=\"abstract-sub-heading\">Recent Findings</h3><p>There is a paucity of randomized, controlled trials comparing therapies for intracranial aneurysms, CCFs and IIH, specifically for neuro-ophthalmic outcomes. Flow diversion is a favorable treatment for intracranial aneurysms compressing the optic nerve and other cranial nerves. Coil embolization remains the most common treatment for cavernous carotid fistulas with low rates of secondary cranial neuropathy. Flow diversion has recently been explored in both direct and Type B indirect carotid cavernous fistulas. Lastly, for IIH, venous sinus stenting has become a popular alternative to surgical shunting, though, as with shunts, there is a risk of stent-related complications.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Endovascular therapy has evolved for each vascular disease and continues to transform to meet the needs of its patients. There are advantages and disadvantages to each type of treatment – endovascular or surgical – and the decision is patient-, surgeon-, and institution-dependent.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"37 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141501465","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

Sleep Disorders in Adults with Intellectual Disability: Current Status and Future Directions 智障成人的睡眠障碍：现状与未来方向

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-06-19 DOI: 10.1007/s11940-024-00801-x

Bhathika Perera, David O’Regan

{"title":"Sleep Disorders in Adults with Intellectual Disability: Current Status and Future Directions","authors":"Bhathika Perera, David O’Regan","doi":"10.1007/s11940-024-00801-x","DOIUrl":"https://doi.org/10.1007/s11940-024-00801-x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of Review</h3><p>We performed a narrative review of the current knowledge in epidemiology, mechanisms, clinical presentation, and treatment of sleep disorders in adults with intellectual disability.</p><h3 data-test=\"abstract-sub-heading\">Recent Findings</h3><p>Adults with Intellectual disability face significant mental and physical health disparities, including in sleep medicine. Despite sleep disorders having been identified as adversely affecting the health and quality of life of both adults with intellectual disabilities and their caregivers, the evidence base for assessment, diagnosis and treatment in this population remains under developed when compared to that of the general population. This review summarises the existing literature on insomnia, sleep disordered breathing, and other common sleep disorders in adults with intellectual disability. Emphasising the existing gaps in our understanding of sleep disorders in adults with intellectual disabilities, we propose strategies to address and mitigate these gaps.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Sleep disorders are common, yet frequently ignored in adults with intellectual disabilities. To address sleep health inequality gaps, future research should adopt tailored approaches, considering the heterogeneity within the intellectual disability population, including stratification by aetiology and health comorbidities. This is essential to improve the diagnostic accuracy and treatment of sleep disorders in adults with intellectual disability.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"64 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141501611","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

TINNITUS. A Non-invasive Neuromodulatory Perspective TINNITUS。非侵入性神经调节视角

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-06-18 DOI: 10.1007/s11940-024-00802-w

Simone Rossi, Marco Mandalà

{"title":"TINNITUS. A Non-invasive Neuromodulatory Perspective","authors":"Simone Rossi, Marco Mandalà","doi":"10.1007/s11940-024-00802-w","DOIUrl":"https://doi.org/10.1007/s11940-024-00802-w","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of the Review</h3><p>Chronic tinnitus affects millions of people worldwide, but it remains an unmet clinical problem, particularly from a therapeutic perspective.</p><h3 data-test=\"abstract-sub-heading\">Recent Findings</h3><p>Neuroimaging and neurophysiological investigations have consistently unveiled that tinnitus can be considered as a form of maladaptive plasticity taking place not only in primary and associative auditory areas but also involving large-scale brain networks. Based on these premises, treatment strategies that aim to manipulate in a controllable way plastic capabilities of the brain are being under investigation as emerging treatments.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>here, we review the rationale for using so called Non-Invasive Brain stimulation (NiBS) techniques, such as navigated repetitive transcranial magnetic stimulation (rTMS) and other forms of transcranial electrical stimulation (tES) or peripheral stimulations, to alleviate tinnitus. We also provide an overview of available clinical results of these various non-invasive neuromodulatory approaches, trying to identify how to translate their unquestionable therapeutic potential into real-life contexts, beyond the lab boundaries.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"78 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141501466","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

Delving Into the Significance of Brain’s Collateral Circulation in the Era of Revascularization Therapy 探讨血管重建疗法时代大脑侧支循环的意义

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-05-04 DOI: 10.1007/s11940-024-00794-7

Marilena Mangiardi, Sergio Soeren Rossi, Adriano Bonura, Gianmarco Iaccarino, Michele Alessiani, Sabrina Anticoli, Gianluca De Rubeis, Enrico Pampana, Francesca Romana Pezzella

{"title":"Delving Into the Significance of Brain’s Collateral Circulation in the Era of Revascularization Therapy","authors":"Marilena Mangiardi, Sergio Soeren Rossi, Adriano Bonura, Gianmarco Iaccarino, Michele Alessiani, Sabrina Anticoli, Gianluca De Rubeis, Enrico Pampana, Francesca Romana Pezzella","doi":"10.1007/s11940-024-00794-7","DOIUrl":"https://doi.org/10.1007/s11940-024-00794-7","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of review</h3><p>This narrative review summarized the major studies focusing on the association between revascularization therapies (intravenous thrombolysis and endovascular thrombectomy) and collateral circulation status in terms of outcome and safety. Our aim is to elucidate, drawing upon the latest scientific evidence, the pivotal role that collateral circulation plays in shaping the prognosis and potential therapeutic in patients with ischemic stroke.</p><h3 data-test=\"abstract-sub-heading\">Recent findings</h3><p>The data currently available suggest that pre-treatment assessment of collateral circulation may be crucial, as a good collateral circulation status appears to be associated with better outcomes in terms of both early revascularization and long-term disability. There is limited literature about the assessment of collateral circulation prior to acute reperfusion therapy.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>The role of the intracranial collateral circulation is gaining increasing attention in the field of ischemic stroke, both in terms of outcome prognosis and therapeutic interventions. These findings need to be confirmed by more structured randomized controlled trials (RCTs), but they suggest that investigating therapeutic strategies to maintain and support collateral circulation may represent the future of ischemic stroke therapy.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"83 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140883527","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

Updates in Fluid, Tissue, and Imaging Biomarkers for Dementia with Lewy Bodies and Implications for Biologically Based Disease Definitions 路易体痴呆的体液、组织和成像生物标记物的最新进展及其对基于生物学的疾病定义的影响

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-05-04 DOI: 10.1007/s11940-024-00791-w

Samantha K. Holden

{"title":"Updates in Fluid, Tissue, and Imaging Biomarkers for Dementia with Lewy Bodies and Implications for Biologically Based Disease Definitions","authors":"Samantha K. Holden","doi":"10.1007/s11940-024-00791-w","DOIUrl":"https://doi.org/10.1007/s11940-024-00791-w","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of Review</h3><p>Dementia with Lewy bodies (DLB) remains underrecognized and underdiagnosed due to its clinical and pathological heterogeneity. Diagnosis currently relies on recognition of clinical features and imaging and neurophysiologic biomarkers. However, clinical features are less obvious in mixed neurodegenerative pathologies, advanced imaging techniques are often inaccessible, and current DLB indicative biomarkers do not directly identify Lewy pathology.</p><h3 data-test=\"abstract-sub-heading\">Recent Findings</h3><p>Seed amplification assay techniques have allowed for in vivo detection of pathological alpha-synuclein protein in the cerebrospinal fluid, blood, and dermal biosamples. Incorporation of co-pathology markers and refinement of the application and interpretation of existing tests for DLB, including brain and cardiac imaging, are also ongoing. Strategic combinations of Lewy biomarkers with other markers of neurodegeneration and neuroinflammation could create individualized patient profiles for diagnosis, prognosis, treatment selection, and response monitoring.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Continued validation and technical harmonization efforts will be needed prior to widespread clinical application of new Lewy body biomarkers. Combining existing and novel DLB and co-pathology biomarkers, along with thorough clinical evaluation, will lead to increased reliability and accuracy of etiological dementia diagnosis. Use of biomarker profiles and biologically based disease definitions will improve care and accelerate treatment discovery for people living with DLB.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"53 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140883791","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

The Efficiency of Established Diagnostic and Therapeutic Approaches in the Treatment of Trigeminal Neuralgia 治疗三叉神经痛的既有诊断和治疗方法的效率

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-05-03 DOI: 10.1007/s11940-024-00795-6

Fazladin T. Temurov, Asel A. Biseytova, Bakhytkul A. Ernazarova, Bibifatima D. Mukhambetova, Asan S. Ubaydullaev

{"title":"The Efficiency of Established Diagnostic and Therapeutic Approaches in the Treatment of Trigeminal Neuralgia","authors":"Fazladin T. Temurov, Asel A. Biseytova, Bakhytkul A. Ernazarova, Bibifatima D. Mukhambetova, Asan S. Ubaydullaev","doi":"10.1007/s11940-024-00795-6","DOIUrl":"https://doi.org/10.1007/s11940-024-00795-6","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of Review</h3><p>The research aims to determine the effectiveness of the main approaches in the diagnosis and treatment of trigeminal neuralgia. Analysis, synthesis, comparison, and generalisation were used as methods of studying the object of research.</p><h3 data-test=\"abstract-sub-heading\">Recent Findings</h3><p>According to the results of the study, the most effective method of diagnosis was found to be examination and history taking. Correct performance of these actions allows to find out whether the nature of the patient’s pain is a symptom of trigeminal neuralgia. For this purpose, the location, nature, and triggering factors of the pain are determined. At the same time, pain characteristics are compared to exclude other diseases that are also accompanied by pain in the face. Among the instrumental diagnostic methods, magnetic resonance imaging has proven to be the most effective, allowing to determine the form of neuralgia and its causes. To determine the effectiveness of treatment methods, the parameters of pain relief rate, duration of the therapeutic effect and the presence of side effects were used. The most effective approach in the conservative treatment of trigeminal neuralgia was determined to be a complex drug therapy, including anticonvulsants, muscle relaxants, antispasmodics, and physiotherapy procedures. The most effective method of surgical intervention is microvascular decompression, which provides immediate pain relief in most cases and has the longest-lasting effect compared to other methods.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Rhizotomy was defined as a less effective procedure, but its advantage was its minimally invasive nature. Even though trigeminal neuralgia is a recurrent disease, the right treatment approach can maximise the duration of remission and return the patient to a normal lifestyle.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"14 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140883600","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

Treatment of Malignant Cerebral Edema in Acute Ischemic Stroke 急性缺血性脑卒中恶性脑水肿的治疗

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-04-19 DOI: 10.1007/s11940-024-00793-8

Maximiliano A. Hawkes, Alejandro A. Rabinstein

{"title":"Treatment of Malignant Cerebral Edema in Acute Ischemic Stroke","authors":"Maximiliano A. Hawkes, Alejandro A. Rabinstein","doi":"10.1007/s11940-024-00793-8","DOIUrl":"https://doi.org/10.1007/s11940-024-00793-8","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of review</h3><p>To provide an updated summary on the diagnosis and treatment of patients with malignant cerebral edema after ischemic stroke.</p><h3 data-test=\"abstract-sub-heading\">Recent findings</h3><p>The risk of malignant middle cerebral artery (MCA) stroke is highest in young patients with large vessel occlusion and unsuccessful revascularization. Several scores are available for risk stratification. Treatment includes supportive care, close neurologic monitoring, and hyperosmolar therapy. Yet, the main therapeutic decision is whether to proceed with decompressive craniectomy. Multiple randomized clinical trials and several meta-analyses have demonstrated that decompressive hemicraniectomy is the single most important intervention associated with survival. Survivors may face severe disability regardless of surgical treatment, and the definition of acceptable outcome in this context remains elusive.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Malignant MCA infarcts are life-threatening and invariably cause disability, most often severe. Neurologic deterioration requires airway management and hyperosmolar therapy. Decompressive hemicraniectomy is a lifesaving procedure; approximately 50% of surgically treated patients younger than 60 years can regain independent ambulation, and one nearly in five may become functionally independent at 1 year. Older patients face a much worse functional prognosis; surgical decisions in these patients should be assessed case by case.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"3 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140623403","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

Updates on Facioscapulohumeral Muscular Dystrophy (FSHD) 面阔肱肌营养不良症 (FSHD) 的最新进展

IF 2 4区医学

Current Treatment Options in Neurology Pub Date : 2024-04-02 DOI: 10.1007/s11940-024-00790-x

Amanda X. Y. Chin, Zhi Xuan Quak, Yee Cheun Chan, Amy M. L. Quek, Kay W. P. Ng

{"title":"Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)","authors":"Amanda X. Y. Chin, Zhi Xuan Quak, Yee Cheun Chan, Amy M. L. Quek, Kay W. P. Ng","doi":"10.1007/s11940-024-00790-x","DOIUrl":"https://doi.org/10.1007/s11940-024-00790-x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose of review</h3><p>This review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral dystrophy (FSHD). We discuss current management options and delve into updates about developments in targeted therapy.</p><h3 data-test=\"abstract-sub-heading\">Recent findings</h3><p>New breakthroughs in FSHD research have led to a further understanding of aberrant DUX4 protein expression in the underlying pathophysiology of FSHD. This has paved the way for the development of targeted therapies aimed at targeting DUX4 expression or its downstream effects. Therapeutic strategies for FSHD primarily target DUX4 through three main avenues: small molecules, antisense oligonucleotide therapeutics and CRISPR-based approaches. This review discusses these strategies further. Presently, all prospective targeted therapies are in the pre-clinical phase, except for losmapimod, which is currently undergoing a phase 3 clinical trial.</p><h3 data-test=\"abstract-sub-heading\">Summary</h3><p>Given the absence of approved disease-modifying treatments for FSHD, the primary approach for management currently involves multidisciplinary supportive measures which are limited. Recent developments in the form of targeted therapies and strategies for the definitive treatment of FSHD indicate a promising era.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"49 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140566277","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