Characteristic features and progression of abnormalities on MRI for CARASIL
Characteristic features and progression of abnormalities on MRI for CARASIL
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DOI：
10.1212/wnl.0000000000001803
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发表时间：
2015-08-04
期刊：
影响因子：
9.9
通讯作者：
Onodera, Osamu
中科院分区：
文献类型：
--
作者：
Nozaki, Hiroaki;Sekine, Yumi;Onodera, Osamu
目的：本研究的目的是阐明遗传诊断为CARASIL（大脑常染色体隐性动脉病变伴皮层下梗死和脑白质病）的特征性脑MRI表现。方法：选取7例携带HTRA1突变的CARASIL患者（代表6个日本家族）进行研究。对18张脑mri进行了回顾和评估，并基于异常高强度病变和萎缩评分的新评分量表进行了评估。结果：在最后一次随访MRI时，所有患者在额叶白质、颞叶前部、外囊和丘脑的t2加权图像上均出现高强度病变。认知功能障碍发生时间越长，MRI严重程度评分越高。萎缩加剧，随后白质病变进展。早期在额叶白质、外囊和脑桥可见高强度病变。晚期，脑桥至小脑中脚呈弧形高信号，我们称之为弧形征。弧形征象是晚期CARASIL的特征性发现。结论：CARASIL的这些特征性MRI表现有助于选择患者进行基因检测。评定量表与疾病持续时间有很好的相关性，可能对评估疾病进展有用。
Objectives:The objective of this study was to clarify the characteristic brain MRI findings for genetically diagnosed CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy).Methods:Seven patients with CARASIL carrying HTRA1 mutations (representing 6 Japanese families) were included in this study. Eighteen brain MRIs were reviewed and evaluated with a new rating scale based on scoring for abnormal hyperintense lesions and atrophy.Results:At the last follow-up MRI, all patients had hyperintense lesions on T2-weighted images of the frontal white matter, anterior temporal lobe, external capsules, and thalami. Patients with longer time from the onset of cognitive impairment had higher MRI severity score. The atrophy advanced, followed by white matter lesion progression. During the early stage, hyperintense lesions were observed in the frontal white matter, external capsule, and pons. During the late stage, the arc-shaped hyperintense lesion from the pons to the middle cerebellar peduncles, which we designated the arc sign, became evident. The arc sign was a characteristic finding for CARASIL in the advanced stage.Conclusions:These characteristic MRI findings for CARASIL are useful for selecting patients for genetic testing. The rating scale correlates well with disease duration and might be useful for assessing disease progression.