Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Q2 Medicine

Handbook of clinical neurology Pub Date : 2024-01-01 DOI:10.1016/B978-0-323-99209-1.00005-3

Charles Wade, David S Lynch

引用次数: 0

Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an adult-onset, inherited white matter disorder encompassing two previously identified clinicopathologically similar entities: pigmentary orthochromatic leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with spheroids (HDLS). In this chapter, we discuss how advances in our genetic understanding of the condition have further delineated three distinct clinical entities within ALSP, namely CSF1R-related ALSP, AARS2-related leukoencephalopathy (AARS2-L), and AARS (HDLS-S). We provide descriptions of the clinical, radiologic, pathologic, and pathophysiologic findings in each entity, detailing their similarities and differences, and discuss current and future treatment options where available.

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成人型白质脑病，伴有轴突球体和色素胶质。

伴轴索球形和色素性胶质的成人发病型白质脑病（ALSP）是一种成人发病型遗传性白质疾病，它包括两个以前发现的临床病理相似的实体：色素性正色素性白营养不良症（POLD）和伴球形的遗传性弥漫性白质脑病（HDLS）。在本章中，我们将讨论遗传学方面的进展如何进一步划分出 ALSP 的三个不同临床实体，即 CSF1R 相关 ALSP、AARS2 相关白质脑病（AARS2-L）和 AARS（HDLS-S）。我们对每个实体的临床、放射学、病理学和病理生理学发现进行了描述，详细说明了它们的异同，并讨论了当前和未来的治疗方案（如有）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.