Elsevier

Neuroscience Letters

Volume 409, Issue 2, 1 December 2006, Pages 83-88
Neuroscience Letters

Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients

https://doi.org/10.1016/j.neulet.2006.04.052Get rights and content

Abstract

Recent discovery of pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene in Parkinson's disease (PD) patients in different ethnic groups have raised a hope of diagnostic screening and genetic counseling. We investigated the six most commonly reported mutations in LRRK2 gene among Indian PD patients, using PCR-RFLP method. Mutations G2019S, R1441C, R1441G, and R1441H were screened in 1012 individuals (PD, 800; controls, 212) while mutations I2012T and I2020T were screened in 748 PD patients. We did not observe any of these six mutations in this study sample except in a single female young onset PD patient who showed a heterozygous G2019S mutation. The absence of mutations was reconfirmed by sequencing of probands from several autosomal dominant PD families. Our observations suggest that these mutations may be a rare cause of PD among Indians and therefore of little help for diagnostic screening and genetic counseling for Indian PD patients.

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Acknowledgements

Patients and controls for their valuable participation in the study; and financial assistance through grants Department of Science and Technology Grant #SP/SO/B-55/2000; Department of Biotechnology Grant #BT/PR2425/Med/13/089/2001 (RCJ, BKT, MB, UM), New Delhi, India and a senior research fellowship to SP from University Grants Commission, New Delhi are gratefully acknowledged.

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