Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene

Neurology. 1999 Oct 22;53(7):1602-4. doi: 10.1212/wnl.53.7.1602.

Abstract

We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfect homozygous cosegregation to the markers was found, giving a maximal lod score of 3.11 at D6S1579, D6S305, and D6S411, all of which are 0 cm apart from each other (nonparametric linkage score, 8.041; p = 0.000977). Exon 3 of the Parkin gene was homozygously deleted in all patients. The AR-JP gene also exists in the Jewish population.

MeSH terms

  • DNA / genetics
  • Exons
  • Gene Deletion
  • Genes, Recessive*
  • Genetic Linkage
  • Haplotypes
  • Homozygote
  • Humans
  • Jews / genetics*
  • Ligases*
  • Lod Score
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinsonian Disorders / genetics*
  • Pedigree
  • Proteins / genetics*
  • Ubiquitin-Protein Ligases*
  • Yemen / ethnology

Substances

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