在前症状C9orf72疾病中量化多模式纵向大脑变化.
Dario Saracino1,2,3, Lorenzo Cipriano1, Marion Houot1,2,4
1Paris Brain Institute-Institut du Cerveau-ICM, Sorbonne Université, Inserm U1127, CNRS UMR 7225, AP-HP-Hôpital Pitié-Salpêtrière, Paris, France.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 10, 2025
概括
C9orf72基因扩张的预症状载体在关键区域,如膜和岛膜中显示出更快的脑缩. 核磁共振扫描每年变化率可以作为跟踪疾病进展的生物标志物.
科学领域:
- 神经成像是一种神经成像.
- 神经退行性疾病 神经退行性疾病
- 遗传学 是一个遗传学.
背景情况:
- 与C9orf72重复扩张相关的前性痴呆症 (FTD) 和肌缩性侧面硬化症 (ALS) 呈现出早期,广泛的脑部变化.
- 存在需要量化磁共振成像 (MRI) 衍生的措施来跟踪在前症状阶段的疾病进展.
研究的目的:
- 用MRI识别和量化C9orf72载体前症状的长度灰色和白质变化.
- 建立MRI衍生生物标志物用于疾病监测和治疗监测.
主要方法:
- 在66名前症状C9orf72携带者和52名对照者中,比较了3年间长度灰质 (GM) 和白质 (WM) 的变化.
- 计算了各种大脑结构和扩散指标的年度变化率 (ARC).
- 相关的MRI发现与神经丝水平.
主要成果:
- 与对照人群相比,预症状携带者表现出与对照人群相比,面和左侧岛屿的缩显著更快,特别是40岁以上的携带者.
- 增加的平均扩散率首先观察到左侧未切割的囊,然后在甲状腺皮层,与较高的神经纤维水平相关.
- 在特定地区的GM和WM变化的ARC在运营商中显著更高.
结论:
- 特定的GM和WM结构在C9orf72相关的FTD/ALS的症状前阶段显示出最显著的纵向下降.
- 这些已识别的结构的年化变化率 (ARC) 作为一种有希望的MRI衍生生物标志物,用于监测疾病进展和治疗疗效.
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