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Neurology:神经科Aicardi-Goutières综合征患者的CT和MRI表现与基因型有关

2015-11-21 MedSci MedSci原创

研究扩展了AGS神经影像学表型的类别,为现有的经典的诊断标准提供了新依据。AGS患者神经影像学表型的异质性部分原因可以用AGS病程和AGS致病机制的复杂性解释。

加拿大麦吉尔大学蒙特利尔医院神经学研究所神经影像科Roberta La Piana和同事研究Aicardi-Goutieres综合征(一种罕见的幼年自体免疫疾病)患者的神经影像学模式和新图像扫描发现。研究结果2015年11月18日在Neurology在线发表

研究目的:研究AGS(Aicardi-Goutières syndrome,Aicardi-Goutières综合征)的神经影像学特点,并对相关文献予以更新。

方法:采集121例AGS患者的神经影像学数据。受试者行CT和MRI检查,系统分析AGS患者的CT和MRI数据。此外研究人员还评估了AGS患者的神经影像学表现、临床症状和基因型之间是否存在关联。

结果:共发现110例(90.9%)AGS患者存在脑部钙化灶。CT和MRI图像显示脑部存在较严重的钙化灶与AGS患者携带TREX1基因型、发病年龄较小有关。111例 (91.8%)受试者的CT和MRI图像显示存在脑萎缩。

受试者中有120例 (99.2%)儿童的CT和MRI图像提示脑部白质软化,主要分为3种类型:额颞叶白质软化、弥漫性白质软化和脑室周围白质软化。54例(50.0%)受试者的CT和MRI图像提示白质疏松,与AGS患者携带TREX1基因型、发病年龄较小有很强的关联性。

研究还发现了AGS患者的其他影像学新特点: AGS患者患病早期深部白质囊性变与AGS患者携带TREX1基因型有关联,髓鞘形成延迟与AGS患者携带RNASEH2B基因型有关。

结论:研究扩展了AGS神经影像学表型的类别,为现有的经典的诊断标准提供了新依据。AGS患者神经影像学表型的异质性部分原因可以用AGS病程和AGS致病机制的复杂性解释。

原始出处:

Roberta La Piana, Carla Uggetti, Federico Roncarolo, et all. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome. Neurology. Published online November 18,2015.

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    2016-08-27 李东泽

    这篇资讯带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。

    0

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    2016-03-24 yinhl1978
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