title: Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China.
abstract: 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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
authors.forename: Qi-ying
authors.initials: QY
authors.lastname: Sun
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Wei-wei
authors.initials: WW
authors.lastname: Han
authors.forename: Xing
authors.initials: X
authors.lastname: Zuo
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Ling-yan
authors.initials: LY
authors.lastname: Yao
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D020329:Essential Tremor / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D055815:Young Adult
chemical_list: D005962:Glucosylceramidase