title: LRRK2 mutations in a clinic-based cohort of Parkinson's disease.
abstract: In the last decade, major breakthroughs in the understanding of genetic contributions to Parkinson's disease (PD) have been achieved. Recently, mutations in LRRK2, encoding dardarin, have been found to be responsible for an autosomal dominant parkinsonism (OMIM 607060). We screened 311 subjects (cases: n = 202, controls: n = 109) for the three previously reported LRRK2 mutations. Our investigation revealed a sporadic case of PD with a heterozygous mutation G2019S (c.6055G>A). Here, we present the clinical phenotype of this patient and discuss the implications of genetic testing for the G2019S mutation in patients with sporadic PD.
authors.affiliation: Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethsda, MD, USA.
authors.forename: S
authors.initials: S
authors.lastname: Scholz
authors.forename: R J
authors.initials: RJ
authors.lastname: Mandel
authors.forename: H H
authors.initials: HH
authors.lastname: Fernandez
authors.forename: K D
authors.initials: KD
authors.lastname: Foote
authors.forename: R L
authors.initials: RL
authors.lastname: Rodriguez
authors.forename: E
authors.initials: E
authors.lastname: Barton
authors.forename: S
authors.initials: S
authors.lastname: Munson
authors.forename: A
authors.initials: A
authors.lastname: Singleton
authors.forename: M S
authors.initials: MS
authors.lastname: Okun
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D002648:Child; D015331:Cohort Studies; D005260:Female; D005784:Gene Amplification; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases