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

P. Nisipeanu, R. Inzelberg, S. C. Blumen, R. L. Carasso, N. Hattori, H. Matsumine, Y. Mizuno

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1602-1604
Number of pages3
JournalNeurology
Volume53
Issue number7
DOIs
StatePublished - 22 Oct 1999

Keywords

  • AR- JP
  • Autosomal recessive juvenile parkinsonism
  • Exon
  • Familial
  • Linkage
  • Mutation
  • Parkin
  • Parkinson

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