GBA1 Thr408Met mutation in a patient with Parkinson’s disease

GBA1 Thr408Met mutation in a patient with Parkinson’s disease

GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing, leading to a diagnosis of GBA1-associated PD. Th...

Full description

Saved in:
Bibliographic Details
Main Authors: Yi ZHAO, Junwen LI, Chunlian JU, Weibin QIU, Bo ZUO, Zhigang YANG, Yansheng LI
Format: Article
Language:English
Published: Shanghai Chinese Clinical Medicine Press Co., Ltd. 2025-06-01
Series:Zhongguo Linchuang Yixue
Subjects:
parkinson’s disease
gba1 gene mutation
pathogenesis
diagnosis
treatment
prognosis
Online Access:https://www.c-jcm.com/article/doi/10.12025/j.issn.1008-6358.2025.20241363
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://www.c-jcm.com/article/doi/10.12025/j.issn.1008-6358.2025.20241363

Similar Items