在患有高希氏病的患者中出现快速发作的 dystonia 和帕金森症
Ellen Hertz1, Grisel Lopez1, Jens Lichtenberg1
1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Journal of movement disorders
|June 13, 2023
概括
在GBA1基因的双基因突变导致高氏病和增加帕金森病的风险. 这一案例表明,GBA1变异也可能导致其他运动障碍,如 dystonia 和 parkinsonism.
科学领域:
- 神经遗传学 神经遗传学
- 运动障碍 运动障碍
- 溶酶体储存疾病 溶酶体储存疾病
背景情况:
- 在GBA1中双基突变是导致高氏病的原因,这是一种溶酶体储存障碍.
- GBA1变异是患帕金森病 (PD) 的已知危险因素.
- GBA1变异与其他运动障碍之间的关联在很大程度上仍未被探索.
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