title: A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
abstract: Mutations in the LRRK2 gene have been identified in families with autosomal dominant parkinsonism. We amplified and sequenced the coding region of LRRK2 from genomic DNA by PCR, and identified a heterozygous mutation (Gly2019 ser) present in four of 61 (6.6%) unrelated families with Parkinson's disease and autosomal dominant inheritance. The families originated from Italy, Portugal, and Brazil, indicating the presence of the mutation in different populations. The associated phenotype was broad, including early and late disease onset. These findings confirm the association of LRRK2 with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease.
authors.affiliation: Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR Rotterdam, Netherlands.
authors.forename: Alessio
authors.initials: A
authors.lastname: Di Fonzo
authors.forename: Christan F
authors.initials: CF
authors.lastname: Rohé
authors.forename: Joaquim
authors.initials: J
authors.lastname: Ferreira
authors.forename: Hsin F
authors.initials: HF
authors.lastname: Chien
authors.forename: Laura
authors.initials: L
authors.lastname: Vacca
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Stocchi
authors.forename: Leonor
authors.initials: L
authors.lastname: Guedes
authors.forename: Edito
authors.initials: E
authors.lastname: Fabrizio
authors.forename: Mario
authors.initials: M
authors.lastname: Manfredi
authors.forename: Nicola
authors.initials: N
authors.lastname: Vanacore
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
authors.forename: Guido
authors.initials: G
authors.lastname: Breedveld
authors.forename: Cristina
authors.initials: C
authors.lastname: Sampaio
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Meco
authors.forename: Egberto
authors.initials: E
authors.lastname: Barbosa
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases