由于拉福拉病的中国血统中的基因突变导致的MRI特征
Yueqian Sun1, Ziqi Zhou1, Qun Wang1,2,3,4
1Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Molecular genetics & genomic medicine
|July 17, 2023
概括
拉福拉病 (LD) 是一种罕见的神经退行性. 在一个中国家庭中发现了一种新的EMP2A基因突变,与大脑缩和症状迅速恶化有关.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 拉福拉病 (LD) 是一种罕见的,致命的,自体逆性神经退行性.
- 它的特点是逐渐的神经衰退和早期死亡率.
研究的目的:
- 描述与中国拉波拉病血统中的基因突变相关的MRI特征.
- 为了确定该家族中LD的遗传原因.
主要方法:
- 在五个家庭成员身上进行了全外组测序和血统分析.
- 使用Freesurfer进行了肌肉活检和纵向脑MRI分析.
主要成果:
- 在EMP2A基因中发现了一种新的异质合体内基突变 (c.71+1G>A).
- 受影响的患者出现了难治性发作,视力受损,认知能力下降和大脑缩,特别是在海马体.
- 肌肉活检显示了多葡萄糖素颗粒.
结论:
- 鉴定到的EMP2A突变扩大了拉福拉病的已知突变谱.
- 大脑体积缩与患者的快速临床恶化相关.
- 这项研究提高了对拉福拉病的病原体和遗传基础的理解.
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