Parkinson's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Parkinson's Disease, including details on symptoms, treatment, genetics, medication.

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

Punia S, Behari M, Govindappa ST, Swaminath PV, Jayaram S, Goyal V, Muthane UB, Juyal RC, Thelma BK

Department of Genetics, University of Delhi South Campus, Benito Juarez Road, New Delhi 21, India.

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.

Published 30 October 2006 in Neurosci Lett, 409(2): 83-8.
Full-text of this article is available online (may require subscription).

© 2004-2008 Parkinson's Disease Research Today. All Rights Reserved.