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Exposure factors and clinical characteristics associated with Parkinson's disease in GBA1 variant carriers: A Chinese GBA1-PD intrafamilial survey

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成果类型:
期刊论文
作者:
Zhang, Xuxiang;Zhao, Yuwen;Jiang, Li;Hu, Yuxuan;Liu, Zhenhua;...
通讯作者:
Guo, JF
作者机构:
[Yan, Xinxiang; Zhao, Yuwen; Tang, Beisha; Xu, Qian; Jiang, Hong; Guo, Jifeng; Hu, Yuxuan; Tan, Zhihui; Zhang, Xuxiang; Liu, Zhenhua; Shen, Lu] Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China.
[Tang, Beisha; Wu, Heng; Jiang, Li] Univ South China, Affiliated Hosp 1, Hengyang Med Sch, Dept Neurol, Hengyang 421000, Hunan, Peoples R China.
[Tang, Beisha; Wu, Heng; Jiang, Li] Univ South China, Affiliated Hosp 1, Multi Res Ctr Brain Disorders, Hengyang Med Sch, Hengyang 421000, Hunan, Peoples R China.
[Yan, Xinxiang; Tang, Beisha; Jiang, Hong; Guo, Jifeng; Liu, Zhenhua; Shen, Lu] Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China.
[Tang, Beisha; Jiang, Hong; Guo, Jifeng; Liu, Zhenhua] Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410008, Hunan, Peoples R China.
通讯机构:
[Guo, JF ] C
Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China.
语种:
英文
关键词:
Parkinson's disease;GBA1 variant carriers;Exposure factors;Clinical characteristics
期刊:
Parkinsonism & Related Disorders
ISSN:
1353-8020
年:
2025
卷:
130
页码:
107212
基金类别:
National Key Plan for Scientific Research and Development of China [2021YFC2501204]; Technology Major Project of Hunan Provincial Science and Technology Department [2021SK1010]; Natural Science Foundation of Hunan Province [2022JJ70079]; Innovation-driven Team Project from Central South University [2020CX016]
机构署名:
本校为其他机构
院系归属:
医学院
摘要:
Introduction Glucosylceramidase beta 1 (GBA1) mutations are a genetic risk factor for Parkinson's disease (PD), though most carriers do not develop the disease. This study aimed to identify exposure factors linked to PD in GBA1 carriers and assess clinical features and the probability of prodromal PD in non-manifesting carriers. Glucosylceramidase beta 1 (GBA1) mutations are a genetic risk factor for Parkinson's disease (PD), though most carriers do not develop the disease. This study aimed to identify exposure factors linked to PD in GBA1 carr...

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