Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Curr Mol Med. 2022;22(4):300-311. doi: 10.2174/1566524021666210510164003.
Monogenic cerebral small vessel diseases are a topic of growing interest, as several genes responsible have been recently described, and new sequencing techniques such as Next-generation sequencing are available. Brain imaging is significant for the detection of these diseases. Since it is often performed at an initial stage, an MRI is a key to selecting patients for genetic testing and for interpreting nextgeneration sequencing reports. In addition, neuroimaging can be helpful in describing the underlying pathological mechanisms involved in cerebral small vessel disease. In this review, we aim to provide neurologists and stroke physicians with an up-to-date overview of the current neuroimaging knowledge on monogenic small vessel diseases.
单基因脑小血管疾病是一个日益受到关注的话题，因为最近已经描述了几个相关的基因，并且新的测序技术，如下一代测序技术也已经出现。脑影像学对于这些疾病的检测具有重要意义。由于它通常在初始阶段进行，因此 MRI 是选择进行基因检测和解释下一代测序报告的患者的关键。此外，神经影像学在描述脑小血管病涉及的潜在病理机制方面也具有帮助。在这篇综述中，我们旨在为神经科医生和卒中医生提供单基因小血管疾病的最新神经影像学知识概述。
