parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease.

Academic Article


  • parkin Mutations are the most common identified cause of Parkinson's disease (PD). It has been suggested that patients with young-onset PD be screened for parkin mutations as a part of their clinical work-up. The aim of this study was to assess parkin mutation frequency in a clinical setting, correlate genotype with phenotype, and evaluate the current justification for clinical parkin testing. Patients were selected from a movement disorder clinic based on diagnosis of PD and onset age
  • Authors


  • Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, DNA, DNA Mutational Analysis, Female, Genotype, Haplotypes, Humans, Male, Middle Aged, Mutation, Parkinson Disease, Pedigree, Phenotype, Ubiquitin-Protein Ligases
  • Digital Object Identifier (doi)

    Pubmed Id

  • 26564153
  • Author List

  • Poorkaj P; Nutt JG; James D; Gancher S; Bird TD; Steinbart E; Schellenberg GD; Payami H
  • Start Page

  • 44
  • End Page

  • 50
  • Volume

  • 129A
  • Issue

  • 1