title: Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort.
abstract: The LRRK2 G2019S mutation is the commonest genetic cause of Parkinson's disease (PD) identified to date, although estimates of its prevalence in idiopathic disease vary considerably. Our objectives were to determine G2019S mutation frequency in an unselected, community based cohort of idiopathic PD cases from the UK and to describe phenotypic characteristics among carriers. The mutation was present in two of 519 cases (0.4%) and none of 887 control individuals. The true prevalence of the mutation in idiopathic disease, its penetrance, and the phenotypic heterogeneity of associated cases have important implications for genetic screening in the clinical field.
authors.affiliation: Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Forvie Site, Robinson Way, Cambridge CB2 2PY, UK. chm27@cam.ac.uk
authors.forename: C H
authors.initials: CH
authors.lastname: Williams-Gray
authors.forename: A
authors.initials: A
authors.lastname: Goris
authors.forename: T
authors.initials: T
authors.lastname: Foltynie
authors.forename: J
authors.initials: J
authors.lastname: Brown
authors.forename: M
authors.initials: M
authors.lastname: Maranian
authors.forename: A
authors.initials: A
authors.lastname: Walton
authors.forename: D A S
authors.initials: DA
authors.lastname: Compston
authors.forename: S J
authors.initials: SJ
authors.lastname: Sawcer
authors.forename: R A
authors.initials: RA
authors.lastname: Barker
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics*; D002869:Chromosome Aberrations; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004739:England; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005838:Genotype; D005998:Glycine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics*
chemical_list: D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine