亨廷顿病的发病时间有多早?
Krisha Bagga1, Allen Xu1, Andrew Hall1
1Neurosciences, UC San Diego, La Jolla, CA, USA.
Movement disorders clinical practice
|September 1, 2025
概括
在亨廷顿病 (HD) 早期, 缺乏疾病意识. 这一发现表明在HD临床研究中使用自我报告数据时应谨慎.
科学领域:
- 神经科学
- 神经学
- 临床研究
背景情况:
- 亨廷顿病 (HD) 常常伴随着无意识,
- 在HD的进展过程中确切的发病原因尚不清楚.
研究的目的:
- 确定亨廷顿病患者何时出现无意识症.
- 评估HD不同阶段存在或不存在的阳.
主要方法:
- 对60名亨廷顿病基因携带者及其研究伙伴进行了Anosognosia测量.
- 参与者使用HD综合分期系统 (HD-ISS),TFC,CAG年龄产品 (CAP) 和复合统一亨廷顿病评分表 (cUHDRS) 来分层.
- 在患者和告知者的报告中,分数差异≥6分.
主要成果:
- 在HD- ISS0/1阶段的参与者中,观察到18%的无知症.
- 在TFC分数为13的个体中,有22%的个体表现出无意识症.
- 37% 符合临床试验条件的参与者 (CAP 评分为 400- 500) 和 23% 具有 cUHDRS ≥14 的参与者表现出无意识症的迹象.
结论:
- 无意识是亨廷顿病的一个早期症状.
- 随着疾病的早期发病,需要在疾病临床研究中减少对自我报告的依赖.
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