title: Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan.
abstract: The c.G7153A variant in the LRRK2 gene (protein effect: Gly2385Arg) is emerging as an important risk factor for Parkinson's disease (PD) in the Han Chinese and Japanese populations. The prevalence of this variant in other neurodegenerative diseases and movement disorders remains almost completely unexplored. Using MALDI-TOF, we studied the Gly2385Arg variant in a large cohort of patients with primary dystonia (n=335) and a smaller series of patients with clinically diagnosed multiple system atrophy (MSA, n=57). The Gly2385Arg variant was identified in heterozygous state in 14 patients with primary dystonia (4.18%) and in three patients with MSA (5.26%). These frequencies do not differ statistically from that reported previously by us in Taiwanese controls (5%). We conclude that the Gly2385Arg variant is not associated with primary dystonia in Taiwan, supporting the specificity of the association between this variant and PD. Whether the Gly2385Arg variant modifies the risk for MSA deserves further study in larger samples.
authors.affiliation: Section of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital and Chang Gung University, No. 5, Fu-Shin Street, Kweishan, Taoyuan 33305, Taiwan.
authors.forename: Chin-Song
authors.initials: CS
authors.lastname: Lu
authors.forename: Hsiu-Chen
authors.initials: HC
authors.lastname: Chang
authors.forename: Yi-Hsin
authors.initials: YH
authors.lastname: Weng
authors.forename: Rou-Shayn
authors.initials: RS
authors.lastname: Chen
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: Yah-Huei
authors.initials: YH
authors.lastname: Wu-Chou
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods; D013624:Taiwan / Q000453:epidemiology
chemical_list: D001120:Arginine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine