A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

Lancet. 2005;365(9457):412-5. doi: 10.1016/S0140-6736(05)17829-5.


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.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Genes, Dominant
  • Genotype
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Middle Aged
  • Parkinson Disease / genetics*
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein Serine-Threonine Kinases / genetics*
  • Sequence Analysis, DNA


  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases