Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication

J Neural Transm (Vienna). 1999;106(2):159-63. doi: 10.1007/s007020050148.

Abstract

Recently a mutation in the parking gene has been identified as the cause for an autosomal-recessively inherited form of early onset Parkinson's disease (EOPD). The disease causing minimal deletion has been defined as a homozygous exon 4 loss in the parkin gene among Japanese patients. We investigated 140 sporadic and familial EOPD patients of German ancestry for the exon 4 deletion in the parkin gene. None of our patients exhibited a homozygous deletion of exon 4, suggesting a minor role of this mutation for EOPD in Caucasians. Nevertheless a detailed mutation analysis is warranted to explore the overall significance of mutations in the parkin gene in EOPD.

MeSH terms

  • Adult
  • Age of Onset
  • DNA Mutational Analysis
  • Exons / genetics
  • Genes, Recessive
  • Germany
  • Homozygote
  • Humans
  • Ligases*
  • Middle Aged
  • Parkinson Disease / diagnosis
  • Parkinson Disease / genetics*
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • Sequence Deletion*
  • Ubiquitin-Protein Ligases*

Substances

  • Proteins
  • Ubiquitin-Protein Ligases
  • parkin protein
  • Ligases