Handbook of clinical neurology最新文献_第8页

Approaches to diagnosis for individuals with a suspected inherited white matter disorder. 诊断疑似遗传性白质紊乱症患者的方法。

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-99209-1.00009-0

Guy Helman, Jennifer L Orthmann-Murphy, Adeline Vanderver

{"title":"Approaches to diagnosis for individuals with a suspected inherited white matter disorder.","authors":"Guy Helman, Jennifer L Orthmann-Murphy, Adeline Vanderver","doi":"10.1016/B978-0-323-99209-1.00009-0","DOIUrl":"https://doi.org/10.1016/B978-0-323-99209-1.00009-0","url":null,"abstract":"Leukodystrophies are heritable disorders with white matter abnormalities observed on central nervous system magnetic resonance imaging. Pediatric leukodystrophies have long been known for their classically high, \"unsolved\" rate. Indeed, these disorders provide a diagnostic dilemma for many clinicians as over 100 genetic disorders alone may present with white matter abnormalities, with this figure not taking into account the substantial number of infectious agents, toxicities, and acquired disorders that may affect the white matter of the brain. Achieving a diagnosis may be the single most important step in the clinical course of a leukodystrophy-affected individual, with important implications for care and quality of life. For certain disorders, prompt recognition can direct therapeutic intervention with significant implications and requires urgent recognition. In this review, we cover newborn screening efforts, standard-of-care testing methodologies, and next generation sequencing approaches that continue to change the landscape of leukodystrophy diagnosis. Early studies have shown that next generation sequencing approaches, particularly exome and now genome sequencing have proven to be powerful in helping resolve many cases that were refractory to a single gene or linkage analysis approach. In addition, other methods are required for cases that remain persistently unsolved after next generation sequencing methods have been used. In the past more than half of affected individuals never achieved an etiologic diagnosis, and when they did, the reported times to diagnosis were >5 years although molecular testing has allowed this to be reduced to closer to 16 months. For affected families, next generation sequencing technologies have finally provided a way to fill gaps in diagnosis.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"204 ","pages":"21-35"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345541","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

Foreword. 前言

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-99209-1.09999-3

Michael J Aminoff, François Boller, Dick Swaab

引用次数: 0

Rare forms of hypomyelination and delayed myelination. 罕见的髓鞘化不足和髓鞘化延迟。

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-99209-1.00002-8

Eleonora Mura, Cecilia Parazzini, Davide Tonduti

{"title":"Rare forms of hypomyelination and delayed myelination.","authors":"Eleonora Mura, Cecilia Parazzini, Davide Tonduti","doi":"10.1016/B978-0-323-99209-1.00002-8","DOIUrl":"https://doi.org/10.1016/B978-0-323-99209-1.00002-8","url":null,"abstract":"Hypomyelination is defined by the evidence of an unchanged pattern of deficient myelination on two MRIs performed at least 6 months apart in a child older than 1 year. When the temporal criteria are not fulfilled, and the follow-up MRI shows a progression of the myelination even if still not adequate for age, hypomyelination is excluded and the pattern is instead consistent with delayed myelination. This can be mild and nonspecific in some cases, while in other cases there is a severe delay that in the first disease stages could be difficult to differentiate from hypomyelination. In hypomyelinating leukodystrophies, hypomyelination is due to a primary impairment of myelin deposition, such as in Pelizaeus Merzabcher disease. Conversely, myelin lack is secondary, often to primary neuronal disorders, in delayed myelination and some condition with hypomyelination. Overall, the group of inherited white matter disorders with abnormal myelination has expanded significantly during the past 20 years. Many of these disorders have only recently been described, for many of them only a few patients have been reported and this contributes to make challenging the diagnostic process and the interpretation of Next Generation Sequencing results. In this chapter, we review the clinical and radiologic features of rare and lesser known forms of hypomyelination and delayed myelination not mentioned in other chapters of this handbook.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"204 ","pages":"225-252"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345558","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

Neuropathology of white matter disorders. 白质紊乱的神经病理学。

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-99209-1.00011-9

Zane Jaunmuktane

{"title":"Neuropathology of white matter disorders.","authors":"Zane Jaunmuktane","doi":"10.1016/B978-0-323-99209-1.00011-9","DOIUrl":"https://doi.org/10.1016/B978-0-323-99209-1.00011-9","url":null,"abstract":"The hallmark neuropathologic feature of all leukodystrophies is depletion or alteration of the white matter of the central nervous system; however increasing genetic discoveries highlight the genetic heterogeneity of white matter disorders. These discoveries have significantly helped to advance the understanding of the complexity of molecular mechanisms involved in the biogenesis and maintenance of healthy white matter. Accordingly, genetic discoveries and functional studies have enabled us to firmly establish that multiple distinct structural defects can lead to white matter pathology. Leukodystrophies can develop not only due to defects in proteins essential for myelin biogenesis and maintenance or oligodendrocyte function, but also due to mutations encoding myriad of proteins involved in the function of neurons, astrocytes, microglial cells as well as blood vessels. To a variable extent, some leukodystrophies also show gray matter, peripheral nervous system, or multisystem involvement. Depending on the genetic defect and its role in the formation or maintenance of the white matter, leukodystrophies can present either in early childhood or adulthood. In this chapter, the classification of leukodystrophies will be discussed from the cellular defect point of view, followed by a description of known neuropathologic alterations for all leukodystrophies.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"204 ","pages":"3-20"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345553","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

Congenital myasthenic syndromes. 先天性肌无力综合征。

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-90820-7.00013-6

David Beeson

{"title":"Congenital myasthenic syndromes.","authors":"David Beeson","doi":"10.1016/B978-0-323-90820-7.00013-6","DOIUrl":"https://doi.org/10.1016/B978-0-323-90820-7.00013-6","url":null,"abstract":"The neuromuscular junction is a prototypic synapse that has been extensively studied and provides a model for smaller and less accessible central synapses. Central to transmission at the neuromuscular synapse is the muscle acetylcholine receptor cation channel. Studies of the genetic disorders affecting the neuromuscular junction, termed congenital myasthenic syndromes, have illustrated how impaired signal transmission may be caused by a variety of mutations both within the ion channel itself and by the context of the ion channel within the synapse. Thus, multiple pathogenic mutations are also identified in proteins affecting the clustering, location, and density of the receptor within the overall synaptic structure. Disease severity ranges from death in childhood to mild disability throughout life. In addition, in utero, fetal akinesia due to impaired neuromuscular transmission may cause developmental abnormalities. Early studies identified mutations in the genes encoding the acetylcholine receptor subunits that impair ion channel gating or reduce the number of endplate receptors or a combination of the two, giving rise to \"slow channel,\" \"fast channel,\" or deficiency syndromes. Subsequently, it became clear that myasthenic syndromes also stem from mutations in proteins involved in neurotransmitter release, the formation and maintenance of the neuromuscular synapse, or glycosylation. This chapter describes the patient phenotypes, the diverse range of molecular mechanisms for synaptic dysfunction, and the corresponding therapeutic strategies, including drug combinations, that can be tailored to the many subtypes.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"203 ","pages":"69-88"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035735","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

Foreword. 前言

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-90820-7.09999-7

Michael J Aminoff, François Boller, Dick F Swaab

引用次数: 0

Other median neuropathies. 其他正中神经病。

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-323-90108-6.00011-9

Danielle Richards, Kerry H Levin

引用次数: 0

Evidence-based preventive treatment of migraine. 偏头痛的循证预防治疗。

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823357-3.00030-6

Callum W Duncan, Stephen D Silberstein

引用次数: 0

Nutraceuticals in migraine. 偏头痛的营养保健品。

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823357-3.00001-X

Thilinie Rajapakse, Andreas R Gantenbein

{"title":"Nutraceuticals in migraine.","authors":"Thilinie Rajapakse, Andreas R Gantenbein","doi":"10.1016/B978-0-12-823357-3.00001-X","DOIUrl":"10.1016/B978-0-12-823357-3.00001-X","url":null,"abstract":"Nutraceuticals represent substances derived from food or plants that provide medical or health benefits, and are increasingly sought by patients as a means of treating migraine in a natural, effective, and safe manner as conventional therapies often fail, are expensive, and laden with side effects. This chapter reviews various nutraceutical therapies for migraine including phytomedicines (plant-based therapies), diets for migraine management and vitamin, mineral, and supplement-based treatments for migraine with respect to preclinical and clinical evidence. Reviewed herein are a multitude of nutraceutical options for the treatment of migraine including vitamins (e.g., riboflavin), antioxidants, and plants/phytomedicines: feverfew, butterbur, cannabis, St. John's Wort, Rosa x damascena, and Gingko biloba. Dietary interventions for migraine include low lipid, vegan, ketogenic, and DASH (dietary approaches to stop hypertension). Supplements such as polyunsaturated fatty acids (PUFAs) as well as l-carnitine, pre/probiotics, and melatonin are also discussed. Migraine patients and their caregivers have an armamentarium of nutraceutical options to treat headache. While some therapies such as vitamins harbor stronger evidence with more rigorous studies, patients may also choose dietary therapies that may offer more systemic health benefits while also improving migraine. As cannabis legalization spreads worldwide, care providers must be aware of the limited evidence in migraine. Future studies may explore traditional ancient medicines for migraine at basic science and clinical level, while currently adopted and new nutraceutical treatments may benefit from partnership with industry to engage in larger trials in humans.","PeriodicalId":12907,"journal":{"name":"Handbook of clinical neurology","volume":"199 ","pages":"125-144"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139671646","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

Retinal migraine. 视网膜偏头痛

Handbook of clinical neurology Pub Date : 2024-01-01 DOI: 10.1016/B978-0-12-823357-3.00012-4

Brian M Grosberg, Maria Veronesi

引用次数: 0