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


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.


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@article{Haubenberger2007ANL, title={A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.}, author={Dietrich Haubenberger and Silvia B. Bonelli and Christoph Hotzy and Petra Leitner and Peter C. Lichtner and Doris Samal and Regina Katzenschlager and Atbin Djamshidian and Thomas Bruecke and Michaela Steffelbauer and Christian Bancher and Josef Grossmann and Gerhard Ransmayr and Tim Matthias Strom and Thomas Meitinger and Thomas Gasser and E. Auff and Alexander Zimprich}, journal={Movement disorders : official journal of the Movement Disorder Society}, year={2007}, volume={22 11}, pages={1640-3} }