无症状的肌缩性侧面硬化症:从表征到预防
Michael Benatar1, Martin R Turner2, Joanne Wuu1
1Department of Neurology, University of Miami, Miami, Florida, USA.
Current opinion in neurology
|June 29, 2023
概括
了解症状前的肌缩性侧面硬化症 (ALS) 的进展使预防策略成为可能. 像神经纤维光链 (NfL) 和早期损伤迹象这样的新生物标志物为早期诊断和干预提供了希望.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 生物标志物发现发现
背景情况:
- 在表征症状前的肌缩性侧面硬化症 (ALS) 方面取得的重大进展为疾病预防策略铺平了道路.
- 目前的进展主要来自对ALS高遗传风险的个体的研究,但洞察力越来越适用于更广泛的风险人群,包括那些容易患上前性痴呆症 (FTD) 的人群.
研究的目的:
- 审查识别和表征ALS和相关疾病的症状前阶段的最新进展.
- 探索新型生物标志物和早期临床症状在疾病预测和干预方面的潜力.
- 讨论这些发现对制定适用于ALS/FTD遗传和零星形式的预防策略的影响.
主要方法:
- 审查最近的科学文献,重点关注症状前的ALS和FTD.
- 对生物标志物研究的分析,包括血液中的神经丝光链 (NfL) 水平.
- 检查新出现的预兆症状的证据,如轻度的运动,认知或行为障碍 (MMI,MCI,MBI).
主要成果:
- 血液NfL水平已被确定为前症状易感性生物标志物,有助于预测某些突变载体的疾病发病.
- 在SOD1-ALS的第一个预防试验已经启动,由生物标志物发现赋予权力.
- 预症状ALS可能表现为微妙的临床症状 (MMI,MCI,MBI),表明一个前兆阶段. 结构和功能性脑部异常,以及系统代谢标志物,也正在成为潜在的早期指标.
结论:
- 鉴定症状前生物标志物和前兆状态为早期诊断和治疗提供了前所未有的机会.
- 这些发现对于开发对ALS和FTD遗传和零星形式的有效预防策略至关重要.
- 目前正在进行的纵向研究至关重要,以确认这些标记物的作用作为遗传风险的内分类型.
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