临床表现 临床表现
Yara Alkhodair1,2, Hyunwoo Lee1, Ian R MacKenzie3,4
1Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 26, 2025
概括
与FTD相关的基因突变的症状前携带者显示认知和行为重叠与注意力缺陷障碍 (ADD) 和注意力缺陷多动性障碍 (ADHD). 这些发现表明,在前性痴呆症 (FTD) 的早期阶段,神经发育机制是共同的.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 认知心理学 认知心理学
背景情况:
- 前性痴呆症 (FTD) 是一种神经退行性疾病,其特点是执行功能障碍和改变前神经回路.
- 这些特征与注意力缺陷障碍 (ADD) 和注意力缺陷多动性障碍 (ADHD) 重叠,表明共享的机制和神经发育因素.
- 在GRN,C9orf72和MAPT中具有高透性的突变与FTD风险有关,并可能影响神经发育.
研究的目的:
- 调查前症状FTD突变携带者和ADD/ADHD特征之间的认知和行为重叠.
- 探索FTD早期阶段潜在的共享神经生物学机制.
- 在突变载体中识别FTD进展的早期指标.
主要方法:
- 来自ALLFTD研究的338名参与者的横截面研究,包括症状前的GRN,C9orf72或MAPT突变携带者 (N=227) 和无症状的非携带者 (N=111).
- 排除具有先前精神病诊断或目前使用抗精神病/抗焦虑药物的个人.
- 对认知和神经精神病学评估的分析,重点关注执行功能,工作记忆,注意力,社交行为和过度活跃;转换者 (N=20) 和非转换者 (N=95) 的比较.
主要成果:
- 与非携带者相比,症状前突变携带者表现出明显较低的口语流性 (p=0.004) 和工作记忆减少的趋势 (p=0.05).
- 与非转换者相比,转换者表现出较差的整体认知表现,语言流性,记忆力和注意力 (p<0.0001).
- 转换器显示了较高的神经精神科库存分数,特别是在多动性 (p=0.003),表明更大的行为障碍.
结论:
- 基线认知和神经精神障碍区分FTD转换器与非转换器,揭示了在前进性FTD中与ADD/ADHD特征的重叠.
- 研究结果表明,ADD/ADHD与FTD早期阶段之间存在共同的神经生物学途径.
- 需要进一步的突变特异性研究来阐明影响FTD进展的神经发育因素.
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