Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China

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• 作者：Qi-ying Sun^a ; ^&dagger ; ; Ji-feng Guo^a ; ^b ; ^&dagger ; ; Wei-wei Han^a ; Xing Zuo^a ; Lei Wang^a ; Ling-yan Yao^a ; Qian Pan^c ; Kun Xia^c ; Xin-xiang Yan^a ; ^b ; Bei-sha Tang^a ; ^b ; ^c ; ^{bstang7398@yahoo.com.cn}
• 关键词：Essential tremor ; Glucocerebrosidase ; L444P ; Multiple system atrophy
• 刊名：Journal of Clinical Neuroscience
• 出版年：2013
• 出版时间：February, 2013
• 年：2013
• 卷：20
• 期：2
• 页码：217-219
• 全文大小：139 K

文摘

The glucocerebrosidase (GBA) gene mutation is emerging as an important risk factor for Parkinson¡¯s disease. We previously reported that the GBA gene L444P mutation is an important risk factor for PD in the Chinese population. The prevalence of this mutation in other neurodegenerative diseases and movement disorders remains completely unexplored in mainland China. In the present study, we extended the screening of GBA gene L444P mutation to Chinese patients with essential tremor (ET) and multiple system atrophy (MSA). We searched for the GBA gene L444P mutation in 109 patients with ET, 54 patients with MSA, and 657 controls from mainland China. None of the 109 patients with ET or 54 patients with MSA carried the GBA gene L444P mutation. Among the 657 controls, we found one L444P heterozygote. The difference in mutation frequencies between patients with ET or MSA and the control group was not statistically significant (chi-squared test, p = 1, respectively). The results suggest that the GBA gene L444P mutation may be not responsible for ET in mainland China. Whether the GBA gene L444P mutation modifies the risk for MSA deserves further study in larger samples.