FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients

Neurosci Lett. 2010 Sep 27;482(2):86-9. doi: 10.1016/j.neulet.2010.06.083. Epub 2010 Jul 14.

Abstract

A recent study has shown that FBXO7 is a causative gene for PARK15-linked autosomal recessive early-onset Parkinsonism which was described by Davison for the first time in 1954 and known as Pallido-Pyramidal Disease or Parkinsonia-Pyramidal Syndrome in the past. In order to investigate the characteristics of FBXO7 gene mutations in Chinese early-onset Parkinsonism patients, we performed polymerase chain reaction and DNA direct sequencing on 135 patients and 200 controls. In this study, we found 10 polymorphisms including two novel polymorphisms (-274G-->C, c.A155G), but no pathogenetic mutations in the FBXO7 gene were detected. This suggests that FBXO7 mutations may be rare in Chinese early-onset Parkinsonism patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Asian People
  • China
  • F-Box Proteins / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Parkinsonian Disorders / genetics*
  • Polymorphism, Genetic

Substances

  • F-Box Proteins
  • FBXO7 protein, human