磁共振成像在大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）研究中的临床与研究应用
Clinical and research applications of magnetic resonance imaging in the study of CADASIL.
作者信息
Schoemaker Dorothee, Quiroz Yakeel T, Torrico-Teave Heirangi, Arboleda-Velasquez Joseph F
机构信息
Schepens Eye Research Institute of Massachusetts Eye and Ear and Department of Ophthalmology, Harvard Medical School, Boston, MA, United States; Massachusetts General Hospital and Department of Psychiatry, Harvard Medical School, Boston, MA, United States.
Massachusetts General Hospital and Department of Psychiatry, Harvard Medical School, Boston, MA, United States.
出版信息
Neurosci Lett. 2019 Apr 17;698:173-179. doi: 10.1016/j.neulet.2019.01.014. Epub 2019 Jan 8.
Abstract
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited small vessel disease that leads to early cerebrovascular events and functional disability. It is the most common single-gene disorder leading to stroke. Magnetic resonance imaging (MRI) is a central component of the diagnosis and monitoring of CADASIL. Here we provide a descriptive review of the literature on three important aspects pertaining to the use of MRI in CADASIL. First, we review past research exploring MRI markers for this disease. Secondly, we describe results from studies investigating associations between neuroimaging abnormalities and neuropathology in CADASIL. Finally, we discuss previous findings relating MRI markers to clinical symptoms. This review thus provides a summary of the current state of knowledge regarding the use of MRI in CADASIL as well as suggestions for future research.
摘要
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是一种遗传性小血管疾病，可导致早期脑血管事件和功能残疾。它是导致中风的最常见单基因疾病。磁共振成像（MRI）是CADASIL诊断和监测的核心组成部分。在此，我们对有关MRI在CADASIL中应用的三个重要方面的文献进行描述性综述。首先，我们回顾过去探索该疾病MRI标志物的研究。其次，我们描述研究CADASIL中神经影像学异常与神经病理学之间关联的研究结果。最后，我们讨论将MRI标志物与临床症状相关联的既往研究结果。因此，本综述总结了目前关于MRI在CADASIL中应用的知识现状，并为未来研究提供了建议。
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2
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Genet Med. 2019 Mar;21(3):676-682. doi: 10.1038/s41436-018-0088-3. Epub 2018 Jul 22.
3
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