生物标志物 生物标志物
Sizhe Zhang1, Bin Jiao1, Yan Zeng1
1Xiangya Hospital, Central South University, Changsha, Hunan, China.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
概括
生物标志物水平,如化 (p-tau) 和状纤维酸蛋白 (GFAP) 在神经内核包容性疾病 (NIID) 和其症状前阶段 (preNIID) 中升高. 这些生物标志物显示出早期NIID检测的潜力,但难以将NIID与阿尔茨海默病 (AD) 区分开来.
科学领域:
- 神经科学是一个神经科学.
- 生物标志物发现发现
- 神经退行性疾病 神经退行性疾病
背景情况:
- 神经内核包容性疾病 (NIID) 是NOTCH2NLC中的GGC重复扩张疾病,导致认知障碍和内核包容性.
- 关于NIID和症状前NIID (preNIID) 的生物标志物改变的研究有限.
- 在NIID和阿尔茨海默病 (AD) 生物标志物之间进行直接比较很少.
研究的目的:
- 综合分析NIID患者和NIID前个体的血生物标志物变化.
- 为了比较NIID,AD和健康对照 (HCs) 之间的生物标志物概况.
- 评估NIID和NIID前检测生物标志物的诊断潜力.
主要方法:
- 分析了两个队列:第一队列 (344名参与者:87名NIID,147名AD,110名HC) 和第二队列 (52名参与者:26名NIID前,26名HC).
- 测量了八种血生物标志物:粉样β (Aβ) 40,Aβ42,神经丝光 (NfL),α-synuclein (α-syn),酸化陶蛋白181 (p-tau181),p-tau217,p-tau231,以及状纤维酸性蛋白 (GFAP).
- 进行了神经心理测试和MRI.
主要成果:
- 与HC相比,NIID中的NfL,α-syn,p-tau181,p-tau217,p-tau231和GFAP都在NIID中升高.
- 在NIID和AD之间,α-syn,p-tau181,p-tau217和p-tau231水平相似,而NIID中NfL较高,GFAP较低.
- p-tau217在NIID与HC之间表现出强大的诊断性能 (AUC0.814),而p-tau物种和GFAP显示出在NIID前检测的潜力 (AUC~0.850).
- 在NIID前的个体中观察到高的p-tau物种和GFAP.
- 包括p-tau217在内的酸化 (p-tau) 种类无法可靠地区分NIID和AD.
结论:
- 血p-tau水平,特别是p-tau217,为NIID病理生理学提供了新的见解.
- 在NIID前的p-tau物种和GFAP的早期变化突出了它们作为NIID早期诊断生物标志物的潜力.
- p-tau物种在区分NIID和AD方面并不有效,这表明有不同的潜在病理或生物标志物限制.
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