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与MAPT,GRN和C9orf72致病变体相关的家族前性痴呆症中的皮层微观结构:超越缩

Lijuan Wang¹, Si Cen¹, Li Zhao¹

¹Department of Neurology, The Second Affiliated Hospital of Wannan Medical College, Wuhu, 241000, China.

The journal of prevention of Alzheimer's disease

|July 23, 2025

概括

皮质平均扩散度 (cMD) 是比皮质厚度 (cTH) 更敏感的生物标志物,用于检测家族前叶退化 (FTLD) 中的早期神经退化. cMD与疾病严重程度和神经纤维光链水平相关,有助于诊断和监测.

科学领域:

神经成像是一种神经成像.
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:

亲属前叶退行症 (FTLD) 提出了诊断方面的挑战.
识别敏感的生物标志物用于早期检测对于干预至关重要.
在C9orf72,GRN和MAPT中的基因突变是家族性FTLD的关键原因.

研究的目的:

评估皮质平均扩散度 (cMD) 作为家族FTLD早期神经退行症的敏感生物标志物.
为了比较cMD与皮层厚度 (cTH) 在检测微观结构变化的灵敏度.
评估cMD与临床严重程度和神经纤维光链 (NFL) 水平的关联.

主要方法:

对322名参与者的分析:C9orf72,GRN,MAPT突变的症状携带者和健康对照.
使用cMD和cTH评估皮质微结构.
评估临床严重程度 (CDR加NACC FTLD尺度) 和NFL的血度.

主要成果:

C9orf72载体显示出广泛的皮层稀释和cMD增加;GRN和MAPT载体的变化更为有限.
在所有突变组中,cMD在检测早期的微结构变化方面表现出比cTH更高的灵敏度.
cMD值与临床严重性得分和NFL度有显著的相关性.

结论:

皮层平均扩散性优于皮层厚度,用于检测家族FTLD的早期微结构变化.
由于cMD与临床严重性和神经退行症标志物的强烈关联,支持其用于早期诊断和监测.
cMD显示了指导FTLD个性化治疗策略的潜力.

关键词:

生物标志物生物标志物皮层的平均扩散度.早期的神经退行症亲属的前叶退化.神经光纤光链链的使用方法

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