Article
The loss of function GBA1 c.231C > G mutation associated with Parkinson disease.
Journal of neural transmission (Vienna, Austria : 1996) - 1 Jul 2023
Chen Dejie, Zheng Yingchun, Zhang Guilian, Huang Yuanbing, Zheng Boyang, Zhang Jian, Xiong Fu, Su Quanxi
Abstract excerpt
Parkinson's disease (PD) is the second most common neurodegenerative disease characterized by bradykinesia, rigidity, and tremor. However, familial PD caused by single-gene mutations remain relatively rare. Herein, we described a Chinese family affected by PD, which associated with a missense heterozygous glucocerebrosidase 1 (GBA1) mutation (c.231C > G). Clinical data on the proband and her family members were...
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