白质紊乱的神经病理学。

Q2 Medicine
Zane Jaunmuktane
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引用次数: 0

摘要

所有白质营养不良症的神经病理学特征都是中枢神经系统白质的缺失或改变;然而,越来越多的遗传学发现凸显了白质疾病的遗传异质性。这些发现极大地促进了人们对健康白质的生物生成和维持所涉及的复杂分子机制的了解。因此,基因发现和功能研究使我们能够牢固确立,多种不同的结构缺陷可导致白质病变。白质营养不良症的发生不仅是由于髓鞘生物生成和维持或少突胶质细胞功能所必需的蛋白质缺陷,还可能是由于编码涉及神经元、星形胶质细胞、小胶质细胞和血管功能的大量蛋白质的突变。在不同程度上,一些白质营养不良症还表现为灰质、周围神经系统或多系统受累。根据遗传缺陷及其在白质形成或维持中的作用,白质营养不良症可能在幼儿期或成年期发病。本章将从细胞缺陷的角度讨论白质营养不良症的分类,然后介绍所有白质营养不良症的已知神经病理学改变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Neuropathology of white matter disorders.

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.

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来源期刊
Handbook of clinical neurology
Handbook of clinical neurology Medicine-Neurology (clinical)
CiteScore
4.10
自引率
0.00%
发文量
302
期刊介绍: The Handbook of Clinical Neurology (HCN) was originally conceived and edited by Pierre Vinken and George Bruyn as a prestigious, multivolume reference work that would cover all the disorders encountered by clinicians and researchers engaged in neurology and allied fields. The first series of the Handbook (Volumes 1-44) was published between 1968 and 1982 and was followed by a second series (Volumes 45-78), guided by the same editors, which concluded in 2002. By that time, the Handbook had come to represent one of the largest scientific works ever published. In 2002, Professors Michael J. Aminoff, François Boller, and Dick F. Swaab took on the responsibility of supervising the third (current) series, the first volumes of which published in 2003. They have designed this series to encompass both clinical neurology and also the basic and clinical neurosciences that are its underpinning. Given the enormity and complexity of the accumulating literature, it is almost impossible to keep abreast of developments in the field, thus providing the raison d''être for the series. The series will thus appeal to clinicians and investigators alike, providing to each an added dimension. Now, more than 140 volumes after it began, the Handbook of Clinical Neurology series has an unparalleled reputation for providing the latest information on fundamental research on the operation of the nervous system in health and disease, comprehensive clinical information on neurological and related disorders, and up-to-date treatment protocols.
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