对一个携带亨廷顿舞蹈病基因 12 个寡肽重复插入突变的家系进行纵向临床、神经心理学和神经影像学特征分析。
Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in : the next generation.
机构信息
Department of Neurology, University of Kansas Medical Center , Kansas City, KS, USA.
Department of Neurology, Indiana University School of Medicine , Indianapolis, IN, USA.
出版信息
Neurocase. 2020 Aug;26(4):211-219. doi: 10.1080/13554794.2020.1787458. Epub 2020 Jun 30.
Abstract
BACKGROUND
Highly penetrant inherited mutations in the prion protein gene () offer a window to study the pathobiology of prion disorders.
METHOD
Clinical, neuropsychological, and neuroimaging characterization of a kindred.
RESULTS
Three of four mutation carriers have progressed to a frontotemporal dementia phenotype. Declines in neuropsychological function coincided with changes in FDG-PET at the identified onset of cognitive impairment.
CONCLUSIONS AND RELEVANCE
Gene silencing treatments are on the horizon and when they become available, early detection will be crucial. Longitudinal studies involving familial mutation kindreds can offer important insights into the initial neuropsychological and neuroimaging changes necessary for early detection.
摘要
背景
朊病毒蛋白基因中的高外显率遗传突变为研究朊病毒疾病的发病机制提供了一个窗口。
方法
对一个家族进行临床、神经心理学和神经影像学特征描述。
结果
四个突变携带者中有三个进展为额颞痴呆表型。神经心理学功能下降与认知障碍起始时 FDG-PET 变化相吻合。
结论和相关性
基因沉默治疗即将面世，当它们可用时，早期检测将至关重要。涉及家族性突变家族的纵向研究可以为早期检测提供必要的初始神经心理学和神经影像学变化的重要见解。
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