Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson’s disease
Version of Record online: 28 JUN 2010
© 2010 The Author(s). European Journal of Neurology © 2010 EFNS
European Journal of Neurology
Volume 17, Issue 12, pages 1479–1481, December 2010
How to Cite
Abdalla-Carvalho, C. B., Santos-Rebouças, C. B., Guimarães, B. C., Campos, M., Pereira, J. S., Zuma de Rosso, A. L., Nicaretta, D. H., Marinho e Silva, M., Mendonça dos Santos, J. and Pimentel, M. M. G. (2010), Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson’s disease. European Journal of Neurology, 17: 1479–1481. doi: 10.1111/j.1468-1331.2010.03039.x
- Issue online: 18 NOV 2010
- Version of Record online: 28 JUN 2010
- Received 6 January 2010 Accepted 9 March 2010
- Parkinson’s disease;
Background and purpose: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson’s disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains.
Methods: Exons 29–31 and 38–44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian.
Results: We identified four polymorphisms, a novel silent variant p.R1398R and four substitutions: p.T1410M, p.G2019S, p.Y2189C and the novel variant p.C2139S.
Conclusions: The most prevalent mutation was the p.G2019S (2.4%). We consider that the p.T1410M and the p.Y2189C variants are probably polymorphisms and that the p.C2139S mutation is potentially pathogenic.