Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Arch Neurol. 2004 Dec;61(12):1898-904. doi: 10.1001/archneur.61.12.1898.

Abstract

Background: Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease.

Objective: To assess the prevalence of PINK1 mutations within a series of early- and late-onset Parkinson disease patients living in North America.

Design: All coding exons of the PINK1 gene were sequenced in a series of 289 Parkinson disease patients and 80 neurologically normal control subjects; the mutation frequencies were evaluated in additional controls (100 white and 50 Filipino subjects).

Results: We identified 27 variants, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-onset Parkinson disease patients.

Conclusion: Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Sequence
  • Cohort Studies
  • Female
  • Gene Frequency / genetics
  • Genetic Linkage / genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Parkinson Disease / genetics*
  • Pedigree
  • Protein Kinases / genetics*

Substances

  • Protein Kinases
  • PTEN-induced putative kinase