The role of pathogenic DJ-1 mutations in Parkinson's disease.

  title={The role of pathogenic DJ-1 mutations in Parkinson's disease.},
  author={Patrick M. Abou-Sleiman and Daniel G. Healy and Niall Quinn and A. J. Lees and Nicholas Wood},
  journal={Annals of neurology},
  volume={54 3},
Mutations in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's disease (YOPD). This study aims to confirm the presence of pathogenic DJ-1 mutations and determine their contribution in young-onset and more typical later onset Parkinson's disease (PD). The entire open reading frame of the DJ-1 gene was screened by direct sequencing in 185 unrelated YOPD patients and a separate cohort of 190 pathologically proven cases of PD. Ethnically matched controls… CONTINUE READING