Handbook of clinical neurology最新文献_第8页

Inhibitory control and voluntary tic suppression. 抑制控制和自主抽动抑制。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-443-13554-5.00007-9

Simon Morand-Beaulieu

引用次数: 0

Understanding tics and neurodevelopmental disorders through lived experience: The first-person experience and the parent perspective. 通过生活经验理解抽搐和神经发育障碍：第一人称体验和父母视角。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-443-13554-5.00021-3

Ben Brown, Jan Stewart

引用次数: 0

Clinical presentation of tics and Gilles de la Tourette syndrome. 抽动症与抽动症的临床表现。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-443-13554-5.00013-4

Andrea E Cavanna

{"title":"Clinical presentation of tics and Gilles de la Tourette syndrome.","authors":"Andrea E Cavanna","doi":"10.1016/B978-0-443-13554-5.00013-4","DOIUrl":"10.1016/B978-0-443-13554-5.00013-4","url":null,"abstract":"Tics are the most common hyperkinetic manifestations during development. The clinical phenomenology of motor tics ranges from mild twitches affecting a single facial muscle to orchestrated contractions of different muscular districts resembling purposeful behaviors. Likewise, the repertoire of vocal tics (also called phonic tics) covers the whole spectrum between isolated grunting noises and meaningful strings of words. Simple and complex tics arguably sit on a continuum of symptom severity and respond to the same treatment interventions. The diagnosis of Gilles de la Tourette syndrome (GTS) is based on the presence of multiple motor tics plus at least one vocal tic, with onset before the age of 18 years and chronic course. It has been argued that the different tic disorders belong to a spectrum of increasing complexity, from the transient form (provisional tic disorder), through persistent motor or vocal tic disorder, to GTS. However, the clinical phenotype of GTS stands out because of the frequent association with specific behavioral problems, ranging from tic-related obsessive-compulsive disorder to other neurodevelopmental conditions. The diagnosis of tic disorders is based on clinical observation and requires expertise. The recent outbreak of functional tics, documented across several countries during the COVID-19 pandemic, introduced unprecedented challenges to the differential diagnosis of neurodevelopmental tics.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"215 ","pages":"11-27"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113053","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 future unfolded: CAR T cells and the transformation of treatment algorithms in autoimmune neurology. 未来展开：CAR - T细胞和自身免疫性神经病学治疗算法的转变。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-323-90887-0.00012-2

Dimitrios Mougiakakos, Marinos C Dalakas

{"title":"The future unfolded: CAR T cells and the transformation of treatment algorithms in autoimmune neurology.","authors":"Dimitrios Mougiakakos, Marinos C Dalakas","doi":"10.1016/B978-0-323-90887-0.00012-2","DOIUrl":"10.1016/B978-0-323-90887-0.00012-2","url":null,"abstract":"Chimeric antigen receptor (CAR) T-cell therapy has revolutionized the treatment of hematologic malignancies, and its application in neuroimmunologic autoimmune diseases is now emerging as a promising therapeutic avenue. Neuroimmunologic diseases such as multiple sclerosis, myasthenia gravis, neuromyelitis optica spectrum disorder, and stiff-person syndrome have shown varying degrees of response to traditional immunomodulatory therapies, but a significant proportion of patients remain refractory to treatment. In recent studies, anti-CD19 CAR T cells have shown encouraging results in targeting B cells, a key driver of autoimmune pathogenesis. CAR T-cells can penetrate the central nervous system and overcome the limitations of conventional B-cell depleting therapies such as rituximab, particularly in accessing ectopic lymphoid follicles that maintain compartmentalized inflammation. In early clinical cases, CAR T-cell treatment has resulted in marked clinical improvements, including significant reductions in symptoms and durable disease remission, with manageable side-effects. In addition, advances in allogeneic CAR T cell constructs and chimeric autoantibody receptor T cells offer additional avenues for precision-targeted therapies. These developments underscore the potential of CAR T cells to reshape the treatment landscape for refractory neuroimmunologic autoimmune diseases and warrant further controlled trials and regulatory exploration.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"214 ","pages":"439-451"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145959265","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

Immunotherapies in autoimmune neuromuscular junction disorders: Acute and chronic management. 自身免疫神经肌肉连接障碍的免疫治疗：急性和慢性管理。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-323-90887-0.00011-0

Amelia Evoli, Nils Erik Gilhus, Donald B Sanders

{"title":"Immunotherapies in autoimmune neuromuscular junction disorders: Acute and chronic management.","authors":"Amelia Evoli, Nils Erik Gilhus, Donald B Sanders","doi":"10.1016/B978-0-323-90887-0.00011-0","DOIUrl":"10.1016/B978-0-323-90887-0.00011-0","url":null,"abstract":"Myasthenia gravis (MG) is the most common disease of the neuromuscular junction. Conventional immunotherapy based on corticosteroids and immunosuppressants has been in use for several decades and has greatly contributed to the improvement of the disease prognosis. In recent years, several new agents, mostly monoclonal antibodies, have proved effective in randomized controlled trials and are in clinical use. Other biologics are currently under evaluation. Novel therapies, that offer the advantage of more selective effects on the immune system, are not devoid of potentially serious adverse effects. MG subgrouping based on associated autoantibodies is a prerequisite for personalized treatment. Patient-specific selection is especially relevant and includes MG-specific IgG subclasses and B-cell subsets responsible for antibody production. While ever-growing knowledge of the disease pathogenicity and advances in technology have made such therapeutic advances possible, lack of biomarkers of disease activity complicates treatment decisions. On the other hand, treatment of Lambert-Eaton myasthenic syndrome (LEMS) has scarcely changed in recent decades and biologics have been tried in very few patients to date. Its rarity and association with cancer have likely discouraged the exploration of new immunotherapies for LEMS despite disease-related disability.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"214 ","pages":"395-415"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145959108","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

Autoimmune encephalitis, autoimmune dementias, and autoimmune psychotic disorders. 自身免疫性脑炎，自身免疫性痴呆和自身免疫性精神病。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-323-90887-0.00013-4

Panos Stathopoulos, Marinos C Dalakas

{"title":"Autoimmune encephalitis, autoimmune dementias, and autoimmune psychotic disorders.","authors":"Panos Stathopoulos, Marinos C Dalakas","doi":"10.1016/B978-0-323-90887-0.00013-4","DOIUrl":"10.1016/B978-0-323-90887-0.00013-4","url":null,"abstract":"The various syndromes of autoimmune encephalitis, with an estimated prevalence of 14 per 100,000, although discovered and better defined during the last 15 years, have left an impactful footprint on autoimmune neurology and have been shaping the novel field of autoimmune neuropsychiatry. Many patients presenting with altered mental status and behavioral aberrations of subacute onset and initially treated with antipsychotic medications turn out to have autoimmune conditions caused by autoantibodies against CNS antigens that respond dramatically to immunotherapy. This chapter describes the different clinical syndromes connected to different autoantibodies and discusses general principles of autoimmunity in connection with intracellular or antisynaptic antibodies as well as different aspects of the evolving concept of autoimmune neuropsychiatry. Further, the chapter summarizes evidence of autoantibody pathogenicity and of potential triggers for this kind of autoimmunity including infections, neoplasms, and immune checkpoint inhibitors. Finally, it analyzes therapeutic maneuvers as well as prognosis. Overall, the chapter stresses the paramount importance of early recognition and diagnosis leading to targeted immunotherapy and improved outcomes.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"214 ","pages":"11-26"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145958953","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

Modeling the human retina in a dish: Advances and future directions. 在培养皿中模拟人类视网膜：进展和未来方向。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-443-22212-2.00019-7

Xue DU, Holly Y Chen

{"title":"Modeling the human retina in a dish: Advances and future directions.","authors":"Xue DU, Holly Y Chen","doi":"10.1016/B978-0-443-22212-2.00019-7","DOIUrl":"10.1016/B978-0-443-22212-2.00019-7","url":null,"abstract":"Human pluripotent stem cells, including embryonic stem cells and induced pluripotent stem cells, can be directed to self-organize into three-dimensional retinal organoids that recapitulate the development, cellular architecture, and key functional features of the human retina. These organoids provide a powerful in vitro platform that models key stages of human retinogenesis and offers unique opportunities to study mechanisms of retinal development and disease in a human context that is not easily accessible in vivo. Recent advances in genome editing, single-cell and multiomics technologies, and bioengineering strategies have further expanded the potential of retinal organoids by enabling precise genetic manipulation, high-resolution profiling, and improved culture systems that more closely approximate native tissue environments. In this chapter, we first highlight how foundational insights from animal models of retinal development have guided the differentiation of human pluripotent stem cells into retinal organoids. We then discuss how these organoids have been applied to advance our understanding of human retinal biology and to model the pathogenesis of inherited and acquired retinal disorders. Finally, we examine emerging technologies, including organ-on-a-chip systems, biomaterial scaffolds, and 3D printing, that promise to refine the fidelity and translational potential of retinal organoids, setting the stage for their future role in regenerative medicine and therapeutic discovery.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"218 ","pages":"447-468"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148101493","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

Anatomic imaging: Angiography. 解剖成像：血管造影。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-443-15736-3.00023-8

Madhavi Duvvuri, Eytan Raz, Matthew Amans

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Computed tomography and magnetic resonance imaging of the brainstem. 脑干的计算机断层扫描和磁共振成像。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-443-15736-3.00002-0

Diogo Goulart Corrêa, Tomás Freddi

{"title":"Computed tomography and magnetic resonance imaging of the brainstem.","authors":"Diogo Goulart Corrêa, Tomás Freddi","doi":"10.1016/B978-0-443-15736-3.00002-0","DOIUrl":"10.1016/B978-0-443-15736-3.00002-0","url":null,"abstract":"The brainstem is a fundamental central nervous system component, essential for life. It comprises the midbrain, pons, and medulla oblongata. It is connected superiorly to the diencephalon, inferiorly to the spinal cord, and posteriorly to the cerebellum. The brainstem is pivotal in permitting transit for ascending and descending tracts, integrative functions, such as consciousness and respiratory cycle, and transmitting action potentials to cranial nerves. Lesions in this region can lead to diverse neurologic deficits. Imaging the brainstem presents challenges due to the proximity of critical structures and potential artifacts. While computed tomography and ultrasound have limitations, magnetic resonance imaging (MRI) is preferred, particularly at higher field strengths, offering superior anatomic details. The compact nature of the brainstem poses challenges in distinguishing its nuclei on MRI. Despite technical hurdles, adequate MRI protocols, including T1- and T2-weighted imaging, fluid-attenuated inversion recovery, susceptibility-weighted imaging, and diffusion-weighted imaging, enable a comprehensive evaluation. Additionally, diffusion tensor imaging with fiber tractography provides qualitative and quantitative insights into white matter tracts. This chapter reviews the normal anatomy of the brainstem through imaging, emphasizing MRI, and addresses common diseases affecting this crucial region.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"216 ","pages":"253-284"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147528285","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

Neurodevelopmental brainstem syndromes. 神经发育性脑干综合征。

Handbook of clinical neurology Pub Date : 2026-01-01 DOI: 10.1016/B978-0-443-15736-3.00008-1

David Gomez-Andres, Manuel Roig-Quils, Francina Munell

{"title":"Neurodevelopmental brainstem syndromes.","authors":"David Gomez-Andres, Manuel Roig-Quils, Francina Munell","doi":"10.1016/B978-0-443-15736-3.00008-1","DOIUrl":"10.1016/B978-0-443-15736-3.00008-1","url":null,"abstract":"Prenatal development of the brainstem is a meticulously orchestrated process, reliant on the coordinated activity of numerous genes and environmental cues. Disruption of this process, whether by genetic mutations or acquired insults during fetal development, can lead to brainstem dysfunction, characterized by a spectrum of clinical manifestations including cranial nerve palsies, cognitive and behavioral deficits, sensory and motor impairments, dysautonomia, and respiratory insufficiency. This chapter is dedicated to disorders primarily involving the brainstem and/or cranial nerves. It provides insights into the prenatal development of the brainstem, elucidates the clinical presentations associated with developmental disruptions, and offers an updated perspective on the genetic and acquired brainstem disorders. The umbrella term \"brainstem dysgenesis\" is employed herein to encompass all disorders stemming from aberrant brainstem development during embryogenesis. Given the phenotypic heterogeneity observed in brainstem dysgenesis, the identification of characteristic phenotypic patterns linked to acquired insults or inherited conditions is paramount. Such recognition facilitates accurate diagnosis, genetic counseling, prognostication, and the formulation of tailored care and therapeutic strategies.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"216 ","pages":"157-169"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147528286","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