Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients.
Publication/Presentation Date
12-25-2009
Abstract
The results of mutation screening of 24 exons of LRRK2 in 60 Iranian Parkinson's Disease patients are presented. The Iranian cohort represents a novel population and was notably young (average age at onset of disease: 36.0 years). Fifty sequence variations were found, seventeen of which are novel. Variations considered possibly associated with disease were screened in available family members, 145 additional patients and 220 control individuals. It was surmised that four novel sequence variations (IVS49+178A>G, p.R1725Q, p.Q1823K, and p.D2175H) may be associated with PD status, albeit they may be very rare non-disease associated variations. The four variations were all observed in the heterozygous state in early onset cases. If one or more of the variations do indeed contribute to disease status, their penetrance is expected to be low.
Volume
467
Issue
2
First Page
53
Last Page
57
ISSN
1872-7972
Published In/Presented At
Shojaee, S., Fazlali, Z., Ghazavi, F., Banihosseini, S. S., Kazemi, M. H., Parsa, K., Sadeghi, H., Sina, F., Shahidi, G. A., Ronaghi, M., & Elahi, E. (2009). Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients. Neuroscience letters, 467(2), 53–57. https://doi.org/10.1016/j.neulet.2009.09.058
Disciplines
Medicine and Health Sciences
PubMedID
19800393
Department(s)
Department of Medicine
Document Type
Article