Familial Parkinsonism with digenic parkin and PINK1 mutations

Mov Disord. 2008 Jul 30;23(10):1461-5. doi: 10.1002/mds.22143.

Abstract

To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • DNA Mutational Analysis
  • Ethnicity / genetics
  • Female
  • Genotype
  • Humans
  • Japan / epidemiology
  • Male
  • Middle Aged
  • Mutagenesis, Insertional
  • Mutation*
  • Mutation, Missense
  • Parkinson Disease / complications
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics*
  • Point Mutation
  • Protein Kinases / genetics*
  • Schizophrenia / complications
  • Schizophrenia / ethnology
  • Schizophrenia / genetics*
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • Ubiquitin-Protein Ligases
  • parkin protein
  • Protein Kinases
  • PTEN-induced putative kinase