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Handbook of clinical neurology最新文献

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Gene and cell-based therapies for retinal and optic nerve disease. 视网膜和视神经疾病的基因和细胞疗法。
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-90120-8.00016-2
Edward P Esposito, Ian C Han, Thomas V Johnson
{"title":"Gene and cell-based therapies for retinal and optic nerve disease.","authors":"Edward P Esposito, Ian C Han, Thomas V Johnson","doi":"10.1016/B978-0-323-90120-8.00016-2","DOIUrl":"https://doi.org/10.1016/B978-0-323-90120-8.00016-2","url":null,"abstract":"<p><p>Leading causes of blindness worldwide include neurodegenerative diseases of the retina, which cause irreversible loss of retinal pigment epithelium (RPE) and photoreceptors, and optic neuropathies, which result in retinal ganglion cell (RGC) death. Because photoreceptor and RGCs do not spontaneously regenerate in mammals, including humans, vision loss from these conditions is, at present, permanent. Recent advances in gene and cell-based therapies have provided new hope to patients affected by these conditions. This chapter reviews the current state and future of these approaches to treating ocular neurodegenerative disease. Gene therapies for retinal degeneration and optic neuropathies primarily focus on correcting known pathogenic mutations that cause inherited conditions to halt progression. There are multiple retinal and optic neuropathy gene therapies in clinical trials, and one retinal gene therapy is approved in the United States, Canada, Europe, and Australia. Cell-based therapies are mutation agnostic and have the potential to repopulate neurons regardless of the underlying etiology of degeneration. While photoreceptor cell replacement is nearing a human clinical trial, RPE transplantation is currently in phase I/II clinical trials. RGC replacement faces numerous logistical challenges, but preclinical research has laid the foundation for functional repair of optic neuropathies to be feasible.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"205 ","pages":"243-262"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345472","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}
引用次数: 0
Disorders with prominent posterior fossa involvement. 后窝明显受累的疾病。
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-99209-1.00007-7
Xavier Ayrignac
{"title":"Disorders with prominent posterior fossa involvement.","authors":"Xavier Ayrignac","doi":"10.1016/B978-0-323-99209-1.00007-7","DOIUrl":"https://doi.org/10.1016/B978-0-323-99209-1.00007-7","url":null,"abstract":"<p><p>Inherited white matter disorders include a wide range of disorders of various origins with distinct genetic, pathophysiologic, and metabolic backgrounds. Although most of these diseases have nonspecific clinical and radiologic features, some display distinct clinical and/or imaging (magnetic resonance imaging, MRI) characteristics that might suggest the causative gene. Recent advances in genetic testing allow assessing gene panels that include several hundred genes; however, an MRI-based diagnostic approach is important to narrow the choice of candidate genes, particularly in countries where these techniques are not available. Indeed, white matter disorders with prominent posterior fossa involvement present specific MRI (and clinical) phenotypes that can directly orient the diagnosis. This chapter describes the main genetic disorders with posterior fossa involvement and discusses diagnostic strategies.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"204 ","pages":"317-332"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345543","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}
引用次数: 0
The role of electrodiagnosis in focal neuropathies. 电诊断在局灶性神经病中的作用。
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-90108-6.00010-7
Devon I Rubin, Christopher J Lamb
{"title":"The role of electrodiagnosis in focal neuropathies.","authors":"Devon I Rubin, Christopher J Lamb","doi":"10.1016/B978-0-323-90108-6.00010-7","DOIUrl":"10.1016/B978-0-323-90108-6.00010-7","url":null,"abstract":"<p><p>Electrodiagnostic (EDX) testing plays an important role in confirming a mononeuropathy, localizing the site of nerve injury, defining the pathophysiology, and assessing the severity and prognosis. The combination of nerve conduction studies (NCS) and needle electromyography findings provides the necessary information to fully assess a nerve. The pattern of NCS abnormalities reflects the underlying pathophysiology, with focal slowing or conduction block in neuropraxic injuries and reduced amplitudes in axonotmetic injuries. Needle electromyography findings, including spontaneous activity and voluntary motor unit potential changes, complement the NCS findings and further characterize chronicity and degree of axon loss and reinnervation. EDX is used as an objective marker to follow the progression of a mononeuropathy over time.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"201 ","pages":"43-59"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140854972","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}
引用次数: 0
Changing landscape in the field of paraneoplastic neurology: Personal perspectives over a 35-year career. 副肿瘤性神经病学领域的风云变幻：35 年职业生涯的个人视角。
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823912-4.00013-X
Josep Dalmau
{"title":"Changing landscape in the field of paraneoplastic neurology: Personal perspectives over a 35-year career.","authors":"Josep Dalmau","doi":"10.1016/B978-0-12-823912-4.00013-X","DOIUrl":"10.1016/B978-0-12-823912-4.00013-X","url":null,"abstract":"<p><p>Paraneoplastic neurologic syndromes are a group of rare disorders that have fascinated neurologists for more than a century. The discovery in the 1980s that many of these disorders occurred in association with antibodies against neuronal proteins revived the interest for these diseases. This chapter first traces the history of the paraneoplastic neurologic syndromes during the era that preceded the discovery of immune mechanisms and then reviews the immunologic period during which many of these syndromes were found to be associated with antibodies against intracellular onconeuronal proteins and pathogenic cytotoxic T-cell mechanisms. Alongside these developments, investigations on the antibody-mediated disorders of the peripheral nervous system, such as the myasthenic syndromes or neuromyotonia, provided suggestions for the study of the central nervous system (CNS) syndromes. These converging areas of research culminated with the groundbreaking discovery of a new category of CNS disorders mediated by antibodies against neuronal surface proteins or receptors. These disorders are not always paraneoplastic, and the understanding of these syndromes and mechanisms has changed the landscape of neurology and neurosciences.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"200 ","pages":"11-32"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143250","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}
引用次数: 0
Clinical approach to diagnosis of paraneoplastic neurologic syndromes. 诊断副肿瘤性神经综合征的临床方法。
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823912-4.00007-4
Francesc Graus
{"title":"Clinical approach to diagnosis of paraneoplastic neurologic syndromes.","authors":"Francesc Graus","doi":"10.1016/B978-0-12-823912-4.00007-4","DOIUrl":"10.1016/B978-0-12-823912-4.00007-4","url":null,"abstract":"<p><p>The correct diagnosis of a paraneoplastic neurologic syndrome (PNS) first requires the identification of the syndrome as one of those defined as high-risk (previously called classical) or intermediate-risk for cancer in the 2021 PNS diagnostic criteria. Testing for neuronal antibodies should be restricted to these syndromes as indiscriminate request decreases the diagnostic value of the antibodies. Identifying onconeural (high-risk for cancer) or intermediate-risk for cancer antibodies supports the paraneoplastic diagnosis and mandates the search for an underlying cancer. Tumor screening must follow the published guidelines. Repeated screening is indicated in neurologic syndromes with onconeural antibodies and patients with high-risk for cancer neurologic syndromes unless they present neuronal antibodies which are not associated with cancer. Neuronal antibodies should be screened by immunohistochemistry and confirmed by immunoblot (intracellular antigens) or cell-based assay (CBA) (surface antigens). Positive results only by immunoblot or CBA should be taken with caution. Although the 2021 diagnostic criteria for PNS do not capture all PNS, as they do not allow to diagnose definite PNS neurologic syndromes without neuronal antibodies, the updated criteria represent a step forward to differentiate true PNS from neurologic syndromes that coincide in time with cancer diagnosis without having a pathogenic link.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"200 ","pages":"79-96"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143251","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}
引用次数: 0
Introduction and overview of immunopathological mechanisms and future directions. 免疫病理机制简介和概述以及未来发展方向。
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823912-4.00029-3
Sean J Pittock, Bruno Giometto
{"title":"Introduction and overview of immunopathological mechanisms and future directions.","authors":"Sean J Pittock, Bruno Giometto","doi":"10.1016/B978-0-12-823912-4.00029-3","DOIUrl":"10.1016/B978-0-12-823912-4.00029-3","url":null,"abstract":"<p><p>Paraneoplastic neurological disorders represent a significant part of the field of autoimmune neurology. Most neural autoantibodies discovered to date are associated with underlying malignancy and in that context are considered paraneoplastic antibody biomarkers. These autoantibodies can be divided into two major categories: those that target intracellular proteins (not pathogenic) and those that target plasma membrane proteins (pathogenic). Disorders accompanied by the former are mediated primarily by neural peptide-specific cytotoxic T-cells, are commonly associated with cancer, and are poorly responsive to immunotherapy. Disorders accompanied by the latter represent antibody-mediated diseases and are generally more responsive to immunotherapy. Areas of significant unmet need in the context of paraneoplastic neurological disorders include novel therapeutic options, as FDA-approved therapies are lacking. This chapter provides a brief overview of immunopathological mechanisms and potential future therapeutic targets. Our contributing authors and their chapters are also introduced.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"200 ","pages":"3-10"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143288","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}
引用次数: 0
Optimizing the diagnostic performance of neural antibody testing for paraneoplastic and autoimmune encephalitis in clinical practice. 优化临床实践中针对副肿瘤性脑炎和自身免疫性脑炎的神经抗体检测的诊断性能。
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823912-4.00002-5
Adrian Budhram, Eoin P Flanagan
{"title":"Optimizing the diagnostic performance of neural antibody testing for paraneoplastic and autoimmune encephalitis in clinical practice.","authors":"Adrian Budhram, Eoin P Flanagan","doi":"10.1016/B978-0-12-823912-4.00002-5","DOIUrl":"10.1016/B978-0-12-823912-4.00002-5","url":null,"abstract":"<p><p>The detection of neural antibodies in patients with paraneoplastic and autoimmune encephalitis has majorly advanced the diagnosis and management of neural antibody-associated diseases. Although testing for these antibodies has historically been restricted to specialized centers, assay commercialization has made this testing available to clinical chemistry laboratories worldwide. This improved test accessibility has led to reduced turnaround time and expedited diagnosis, which are beneficial to patient care. However, as the utilization of these assays has increased, so too has the need to evaluate how they perform in the clinical setting. In this chapter, we discuss assays for neural antibody detection that are in routine use, draw attention to their limitations and provide strategies to help clinicians and laboratorians overcome them, all with the aim of optimizing neural antibody testing for paraneoplastic and autoimmune encephalitis in clinical practice.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"200 ","pages":"365-382"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143293","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}
引用次数: 0
Overview of treatment strategies in paraneoplastic neurological syndromes. 副肿瘤性神经综合征治疗策略概述。
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823912-4.00015-3
Jeroen Kerstens, Maarten J Titulaer
{"title":"Overview of treatment strategies in paraneoplastic neurological syndromes.","authors":"Jeroen Kerstens, Maarten J Titulaer","doi":"10.1016/B978-0-12-823912-4.00015-3","DOIUrl":"10.1016/B978-0-12-823912-4.00015-3","url":null,"abstract":"<p><p>Treatment strategies in paraneoplastic neurological syndromes rely on the three pillars of tumor treatment, immunotherapy, and symptomatic treatment, the first one being by far the most important in the majority of patients and syndromes. Classically, antibodies against extracellular antigens are directly pathogenic, and patients with these syndromes are more responsive to immunomodulatory or immunosuppressive treatments than the ones with antibodies against intracellular targets. This chapter first discusses some general principles of tumor treatment and immunotherapy, followed by a closer look at specific treatment options for different clinical syndromes, focusing on symptomatic treatments.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"200 ","pages":"97-112"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143294","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}
引用次数: 0
Preface. 序言
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-90242-7.09988-0
Matilde Inglese, Giovanni L Mancardi
{"title":"Preface.","authors":"Matilde Inglese, Giovanni L Mancardi","doi":"10.1016/B978-0-323-90242-7.09988-0","DOIUrl":"https://doi.org/10.1016/B978-0-323-90242-7.09988-0","url":null,"abstract":"","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"202 ","pages":"xiii-xiv"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901549","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}
引用次数: 0
5-HT1F agonists. 5-HT1F 激动剂
Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823357-3.00032-X
Stephanie J Steel
{"title":"5-HT1F agonists.","authors":"Stephanie J Steel","doi":"10.1016/B978-0-12-823357-3.00032-X","DOIUrl":"10.1016/B978-0-12-823357-3.00032-X","url":null,"abstract":"<p><p>5-Hydroxytryptamine (HT)/serotonin receptor agonism has been a long-recognized property of triptan medications, and more recently, the study and development of medications with selective binding to the 1F receptor subtype have been explored. While the exact mechanism contributing to decreased symptoms of an acute migraine attack remains unclear, selective 5-HT1F agonists have demonstrated clinical efficacy with lasmiditan as the only approved medication from this class to date. Lasmiditan lacks vasoconstrictive properties, giving it utility in specific patient populations in whom triptans should be avoided. Availability, central nervous system (CNS) side effects, and 8-hour driving restriction may affect its clinical use.</p>","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"199 ","pages":"43-50"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139671577","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}
引用次数: 0
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