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在遗传性性残疾4中轻度认知功能障碍与氧葡萄糖脑正子辐射断层扫描相关的疾病

Raphaël Miroglio¹, Armand Hocquel¹, Jean-Marie Ravel^2,3

¹Department of Neurology, CHRU Nancy, Nancy 54000, France.

Brain communications

|November 3, 2025

概括

自体主导性性四肢类型4 (SPG4) 患者表现出轻微的认知缺陷,特别是在记忆和执行功能方面. 脑部成像显示,前部区域的新陈代谢减少,与疾病进展相关.

科学领域:

神经学神经学
神经成像是一种神经成像.
认知科学认知科学

背景情况:

由SPAST基因突变引起的4型自体主导性性 (SPG4),主要以下肢性而闻名.
在SPG4的认知障碍往往是 underreported 和劣质的特征.
大脑18F-FDG PET是评估神经元代谢活动的宝贵工具.

研究的目的:

确定SPG4患者的认知特征.
通过使用18F-FDG PET. 调查认知缺陷的神经生物学基础.
确定SPG4.4中受低代谢影响的特定大脑区域.

主要方法:

神经心理学评估包括MoCA,16-FCRT,Trail Making Test,Stroop和数字跨度.
大脑18F-FDG PET成像分析半量化.
使用SPATAX-EuroSpa和SPRS. 的临床评估.
包括20名患有病原性SPAST变异的SPG4患者.

主要成果:

46%的SPG4患者显示MoCA得分受损,表明轻度认知功能障碍.
在口头情节性记忆 (63%),面部情绪识别 (56%) 和执行功能 (47%) 中观察到缺陷.
18F-FDG PET揭示了显著的前和前性低代谢,特别是在前额叶皮层,与疾病发病和执行功能测试相关.

结论:

SPG4与一种明显的轻度认知障碍模式有关,主要影响执行功能和记忆.
在18F-FDG PET上的前代谢低代谢支持观察到的认知缺陷.
在SPG4患者中建议对轻度认知功能障碍进行查,因为它可能对生活质量产生影响.

关键词:

18F-FDG 皮革皮革 (PET) 的使用这就是SPASTAST.在SPG4中,SPG4是SPG4.认知障碍是一种认知障碍.时间前 (Frontotemporal)

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