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

Neurosci Lett. 2006 Dec 1;409(2):83-8. doi: 10.1016/j.neulet.2006.04.052. Epub 2006 Oct 18.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • DNA Primers
  • Exons / genetics
  • Female
  • Gene Frequency
  • Humans
  • India / epidemiology
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Mutation / physiology*
  • Parkinson Disease / epidemiology
  • Parkinson Disease / genetics*
  • Polymorphism, Restriction Fragment Length
  • Protein Serine-Threonine Kinases / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction


  • DNA Primers
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases