title: Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease.
abstract: Parkinson's disease (PD) is the second most common neurodegenerative disease with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of PD. Recently, a P755L variant in the LRRK2 gene has been found to be responsible for 2% of Chinese patients with sporadic PD. To evaluate the frequency of the LRRK2 P755L variant in North American Caucasian patients with PD, we screened 426 PD patients and 37 additional patients with the combination of PD and essential tremor (ET) from our Parkinson Disease Center and Movement Clinic at Baylor College of Medicine. No P755L variant was found in our PD cohort. Therefore, we conclude that LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.
authors.affiliation: Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
authors.forename: Weidong
authors.initials: W
authors.lastname: Le
authors.forename: Maosheng
authors.initials: M
authors.lastname: Huang
authors.forename: Wenjie
authors.initials: W
authors.lastname: Xie
authors.forename: Tianghong
authors.initials: T
authors.lastname: Pan
authors.forename: Joseph
authors.initials: J
authors.lastname: Jankovic
mesh_terms: D000368:Aged; D001921:Brain / Q000378:metabolism* / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*; D011237:Predictive Value of Tests; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D005819:Genetic Markers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases