功能连接与疾病进展标志物的关联在GRN病原型变体载体中的疾病进展标志物中
Taru M Flagan1, Stephanie A Chu1, Suvi Häkkinen1
1Department of Neurology, Weill Institute for Neurosciences, Memory and Aging Center, University of California, San Francisco, San Francisco, California, USA.
Annals of clinical and translational neurology
|September 17, 2025
概括
无症状GRN变种携带者的功能性超连接性可能预示着即将到来的临床衰退. 这种大脑连接模式,加上神经纤维光链升高和灰质减少,表明前性痴呆症开始即将到来.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 自体主导的progranulin (GRN) 变体导致前叶退化.
- 生物标志物是预测症状发作和跟踪GRN携带者的疾病进展所需的.
- 之前的研究表明,在无症状的GRN携带者中,与年龄相关的甲状腺皮层超连接性.
研究的目的:
- 调查GRN变异载体中功能连接和神经退行性标记物之间的关系.
- 为了确定超级连接性是否先于或与神经退行症标志物一致.
主要方法:
- 在49个无症状和26个有症状的GRN携带者中使用T1和静止状态fMRI.
- 通过使用voxelwise全脑度来评估功能连接.
- 与血神经纤维光链的相关连接性,中枢神经液补充水平,强迫症严重程度和灰质体积.
主要成果:
- 在无症状的载体中,神经纤维光链与特定区域的超连接性和减少灰质相关.
- 具有症状的载体在与超连接性和补充水平相关的区域呈现缩.
- 强迫症严重程度与所有载体的低连接性有关.
结论:
- 在无症状携带者中,高超连接性,高神经纤维光链和低灰质的同时出现表明临床衰退即将到来.
- 功能性超连接性可以作为一种生物标志物,用于接近GRN相关的前性痴呆症的症状发作.
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