Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update

@inproceedings{Nuytemans2010GeneticEO,
  title={Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update},
  author={Karen Nuytemans and Jessie Theuns and Marc Cruts and Christine van Broeckhoven},
  booktitle={Human mutation},
  year={2010}
}
To date, molecular genetic analyses have identified over 500 distinct DNA variants in five disease genes associated with familial Parkinson disease; alpha-synuclein (SNCA), parkin (PARK2), PTEN-induced putative kinase 1 (PINK1), DJ-1 (PARK7), and Leucine-rich repeat kinase 2 (LRRK2). These genetic variants include approximately 82% simple mutations and approximately 18% copy number variations. Some mutation subtypes are likely underestimated because only few studies reported extensive mutation… CONTINUE READING
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Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

  • V Bonifati, P Rizzu, +15 authors P. Heutink
  • Science
  • 2003
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