确定CADASIL的症状患者的临床疾病进展
Sofia Kaisaridi1, Dominique Herve1, Aude Jabouley1
1From the ARAMIS (S.K., S.T.D.M.), Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Groupe Hospitalier Sorbonne Université; Centre de référence pour les maladies vasculaires rares du cerveau et de l'œil (CERVCO) and Centre Neurovascular Translationnel (CNVT) (D.H., A.J., S.R., C.M., S.G., A.T., F.F., H.C.), AP-HP, Paris; and INSERM U1141 - FHU NeuroVasc (D.H., S.G., H.C.), Université Paris Cité, France.
大脑自体主导动脉病变与皮层下心脏病发作和白细胞大脑病变 (CADASIL) 呈现异质进展,确定了两个不同的患者亚组:一个是早期迅速发病的,另一个是较慢,较晚发病的. 诸如男性性别和高血压等因素会影响疾病的发展轨迹.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 医学研究 医学研究
背景情况:
- 大脑自体主导动脉病变与皮下心脏病发作和白脑病变 (CADASIL) 是一种常见的小动脉脑疾病,与NOTCH3基因变异有关.
- 在不同疾病阶段的CADASIL缺陷的进展和相互关系仍然不太清楚.
研究的目的:
- 在CADASIL中建模疾病进展.
- 根据进展模式识别不同的患者子组.
- 调查各种共同变量对临床恶化的影响.
主要方法:
- 利用了法国CADASIL转诊中心的395名患者的数据,平均随访时间为7.5年.
- 采用疾病过程模型 (Leaspy) 来评估进展和可变性.
- 应用高斯混合模型来识别进展子组和逻辑回归来比较组特征.
主要成果:
- 在CADASIL患者的临床表现是异质的,并且随着疾病的阶段而有显著变化.
- 确定了两个不同的进展子组:一个早期发病的,具有运动症状的快速进展组和一个晚期发病的,具有认知症状的缓慢进展组.
- 男性性别,低学历,高血压和NOTCH3变体位置 (EGFr 1-6) 与群体之间的差异有关.
结论:
- 卡达西尔患者在临床和认知功能方面经历了渐进而异质的下降.
- 有两种主要的进展概况:快速和早期,或延迟和缓慢.
- 男性性别,低教育程度,特定的NOTCH3变体位置,吸烟和高血压可能会影响临床进展.
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