Abstract:
Speech alterations have been reported in manifest Huntington\'s disease (HD) and premanifest mutation carriers (preHD). The aim of our study was to explore these alterations in preHD and whether they can be used as biomarkers. 13 preHD mutation carriers performed reading task, sustained phonation task and syllable repetition tasks at baseline and after 21 months, as well as clinical examination and MRI. Syllable repetition capacity and self-chosen velocity of single syllable repetition differed significantly between time points. There were no changes in clinical ratings or MRI volumetry. Measurements of speech might be sensitive tools for monitoring subclinical changes in preHD.
摘要:
在显见的亨廷顿氏病(HD)和显见的突变携带者(preHD)中已经报道了言语改变。我们研究的目的是探索preHD中的这些变化以及它们是否可以用作生物标志物。13个preHD突变携带者执行读取任务,基线和21个月后的持续发声任务和音节重复任务,以及临床检查和MRI。音节重复能力和单音节重复的自我选择速度在时间点之间存在显着差异。临床评分或MRI容量没有变化。语音测量可能是监测preHD亚临床变化的敏感工具。