在GENFI队列中,遗传性前性痴呆症中的前性语言障碍
Kiran Samra1, Amy M MacDougall2, Arabella Bouzigues1
1Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
Journal of the neurological sciences
|June 22, 2023
概括
语言缺陷出现在遗传前性痴呆症 (FTD) 的前性阶段,而不是无症状阶段. 不同的基因突变 (C9orf72,GRN,MAPT) 在FTD中显示出不同的语言和大脑缩模式.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 语言学的语言学.
背景情况:
- 遗传性前性痴呆症 (FTD) 是一种神经退行性疾病,具有多种遗传原因.
- 早期识别症状前语言变化对于了解疾病进展和制定干预措施至关重要.
研究的目的:
- 为了确定在遗传性FTD中症状出现之前是否存在语言障碍.
- 为了区分C9orf72,GRN和MAPT突变载体之间的语言缺陷.
主要方法:
- 来自遗传FTD倡议 (GENFI) 研究的682名参与者的分析 (无症状/前体突变携带者和对照).
- 使用标准化测试 (BNT,mCCT,流利性任务) 和MRI进行语言评估,以测量语言网络中的大脑体积.
主要成果:
- 48%的原发性携带者表现出语言障碍,而对照组只有13%;无症状携带者没有显著障碍.
- 具体缺陷因突变而异:在所有语言中检索单词,在C9orf72/GRN中语法/流利,在C9orf72.
- 脑缩模式不同,在C9orf72中普遍出现损失,在MAPT载体中出现缩.
结论:
- 语言缺陷表明遗传性FTD的前发症阶段,而不是症状前阶段.
- 在不同的基因FTD突变中存在不同的语言和神经成像资料.
- 了解这些症状前的语言变化对于开发未来临床试验的结果措施至关重要.
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