中国现代神经疾病杂志 ›› 2024, Vol. 24 ›› Issue (3): 177-181. doi: 10.3969/j.issn.1672-6731.2024.03.011

• 帕金森病及运动障碍疾病 • 上一篇    下一篇

2 LRRK2基因R1067Q和GBA基因R202Q双变异致早发型帕金森病一例

刘晨, 干静, 张煜, 刘振国*()   

  1. 200092 上海交通大学医学院附属新华医院神经内科
  • 收稿日期:2024-01-03 出版日期:2024-03-25 发布日期:2024-03-29
  • 通讯作者: 刘振国
  • 基金资助:
    国家自然科学基金资助项目(81974173); 国家自然科学基金资助项目(82271274); 国家自然科学基金资助项目(82171242); 上海市科学技术委员会资助项目(22Y11904100)

Early-onset Parkinson's disease caused by LRRK2 R1067Q and GBA R202Q variation: one case report

Chen LIU, Jing GAN, Yu ZHANG, Zhen-guo LIU*()   

  1. Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
  • Received:2024-01-03 Online:2024-03-25 Published:2024-03-29
  • Contact: Zhen-guo LIU
  • Supported by:
    the National Natural Science Foundation of China(81974173); the National Natural Science Foundation of China(82271274); the National Natural Science Foundation of China(82171242); Shanghai Science and Technology Commission Funding Project(22Y11904100)

关键词: 帕金森病, 富含亮氨酸重复丝氨酸-苏氨酸蛋白激酶2, 葡糖苷酰鞘氨醇酶, 病例报告

Key words: Parkinson disease, Leucine-rich repeat serine-threonine protein kinase-2, Glucosylceramidase, Case reports