Disorders with prominent posterior fossa involvement.

Q2 Medicine Handbook of clinical neurology Pub Date : 2024-01-01 DOI:10.1016/B978-0-323-99209-1.00007-7

Xavier Ayrignac

引用次数: 0

Abstract

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.

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后窝明显受累的疾病。

遗传性白质疾病包括各种不同起源的疾病，其遗传、病理生理和代谢背景各不相同。虽然这些疾病大多没有特异性的临床和影像学特征，但有些疾病显示出明显的临床和/或影像学（磁共振成像，MRI）特征，可能提示了致病基因。基因检测方面的最新进展允许对包括数百个基因在内的基因组进行评估；然而，基于核磁共振成像的诊断方法对于缩小候选基因的选择范围非常重要，尤其是在没有这些技术的国家。事实上，明显累及后窝的白质疾病具有特定的磁共振成像（和临床）表型，可直接指导诊断。本章介绍了后窝受累的主要遗传性疾病，并讨论了诊断策略。

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.

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