重复扩展障碍。

IF 2.4 Q2 CLINICAL NEUROLOGY
Zhongbo Chen, Huw R Morris, James Polke, Nicholas W Wood, Sonia Gandhi, Mina Ryten, Henry Houlden, Arianna Tucci
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引用次数: 0

摘要

越来越多的重复扩增疾病被发现可导致罕见和常见的神经系统疾病。最近发现的一些新型重复扩增疾病,如 CANVAS(小脑共济失调、神经病变和前庭反射综合征)和脊髓小脑共济失调 27B 型,有很大一部分是由重复扩增引起的。迄今已描述的 60 种重复扩增疾病中,大多数都与神经系统疾病有关,这给诊断带来了巨大挑战,但也为临床神经病学的治疗提供了机会。这些疾病在临床表现、总体诊断特征和基因检测方法上存在共性,因此有理由根据其统一的致病机制将其合并考虑。在这篇综述中,我们将讨论重复扩增疾病的特征和诊断对神经科医生的挑战,并举例说明其临床异质性。随着用于分子诊断的临床级全基因组测序技术的普及,我们将讨论目前检测重复扩展障碍的方法以及在临床实践中的应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Repeat expansion disorders.

An increasing number of repeat expansion disorders have been found to cause both rare and common neurological disease. This is exemplified in recent discoveries of novel repeat expansions underlying a significant proportion of several late-onset neurodegenerative disorders, such as CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia syndrome) and spinocerebellar ataxia type 27B. Most of the 60 described repeat expansion disorders to date are associated with neurological disease, providing substantial challenges for diagnosis, but also opportunities for management in a clinical neurology setting. Commonalities in clinical presentation, overarching diagnostic features and similarities in the approach to genetic testing justify considering these disorders collectively based on their unifying causative mechanism. In this review, we discuss the characteristics and diagnostic challenges of repeat expansion disorders for the neurologist and provide examples to highlight their clinical heterogeneity. With the ready availability of clinical-grade whole-genome sequencing for molecular diagnosis, we discuss the current approaches to testing for repeat expansion disorders and application in clinical practice.

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来源期刊
PRACTICAL NEUROLOGY
PRACTICAL NEUROLOGY Medicine-Neurology (clinical)
CiteScore
3.70
自引率
3.60%
发文量
113
期刊介绍: The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.
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