随着时间的推移,CADASIL预后的变化:一项为期23年的555名个体的研究
Nontapat Sukhonpanich1,2, Fatemeh Koohi1, Amy A Jolly1
1Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, Cambridgeshire, UK.
Journal of neurology, neurosurgery, and psychiatry
|November 15, 2024
概括
大脑自体主导性动脉病变与皮下心脏病发作和白脑病变 (CADASIL) 的临床表现正在改善,随着时间的推移,中风发作较晚,并观察到中风和痴呆的风险降低. 这些发现表明,近年来CADASIL患者的疾病进展较温和.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 血管医学 血管医学
背景情况:
- 大脑自体主导性动脉病变与皮下心脏病发作和白脑病变 (CADASIL) 是最常见的中风和痴呆的单一原因.
- 由于在CADASIL中改善了护理和风险因素管理,可能出现较温和的临床表型仍然不确定.
研究的目的:
- 在23年的时间内调查CADASIL临床预后的变化.
- 为了确定CADASIL的临床表型是否随着时间的推移而变得更加温和.
主要方法:
- 对2001年至2023年期间招募的大量纵向CADASIL队列 (n=555) 的分析.
- 利用线性混合效应模型来评估中风发作的年龄变化.
- 采用Cox比例危险回归来评估遗传和血管风险因素对中风和痴呆风险的影响.
主要成果:
- 在研究期间 (从46.7岁增加到51.6岁) 观察到中风发作的平均年龄显著增加.
- 自2016年以来招募的患者显示,与早期队列相比,中风 (HR 0.36) 和痴呆症 (HR 0.43) 的风险显著降低.
- 即使调整了关键风险因素和遗传突变,这些改善仍然存在.
结论:
- 卡达西尔的临床表型正在明显改善.
- 虽然降低了血管风险因素和识别了较轻的病例有所贡献,但观察到的改善表明真正的转向了较轻的疾病过程.
- 更新的预后风险估计对于CADASIL患者咨询至关重要.
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