A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease

Mov Disord. 2007 Aug 15;22(11):1640-3. doi: 10.1002/mds.21568.


To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.

MeSH terms

  • Aged
  • Asparagine / genetics
  • Austria / ethnology
  • Cohort Studies
  • DNA Mutational Analysis / methods
  • Exons
  • Family Health
  • Female
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinson Disease / genetics*
  • Protein Serine-Threonine Kinases / genetics*
  • Serine / genetics


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