title: Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.
abstract: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease.
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Bill.nichols@cchmc.org
authors.forename: William C
authors.initials: WC
authors.lastname: Nichols
authors.forename: Nathan
authors.initials: N
authors.lastname: Pankratz
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.forename: Coro
authors.initials: C
authors.lastname: Paisán-Ruíz
authors.forename: Shushant
authors.initials: S
authors.lastname: Jain
authors.forename: Cheryl A
authors.initials: CA
authors.lastname: Halter
authors.forename: Veronika E
authors.initials: VE
authors.lastname: Michaels
authors.forename: Terry
authors.initials: T
authors.lastname: Reed
authors.forename: Alice
authors.initials: A
authors.lastname: Rudolph
authors.forename: Clifford W
authors.initials: CW
authors.lastname: Shults
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
authors.forename: Tatiana
authors.initials: T
authors.lastname: Foroud
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation; 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