Original investigation

Human Genetics

, Volume 103, Issue 4, pp 424-427

Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson’s disease

  • Elisabeth LeroyAffiliated withGene Mapping Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bldg 49Rm4A66, Bethesda MD 20892, USA e-mail: mhp@nhgri.nih.gov Tel.: +1-301-4022119, Fax: +1-301-4022170
  • , Dimitri AnastasopoulosAffiliated withDepartment of Neurology, University of Ioannina Medical School, Ioannina, Greece
  • , Spiridon KonitsiotisAffiliated withExperimental Therapeutics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md., USA
  • , Christian LavedanAffiliated withGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., USA
  • , M. H. PolymeropoulosAffiliated withGene Mapping Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bldg 49Rm4A66, Bethesda MD 20892, USA e-mail: mhp@nhgri.nih.gov Tel.: +1-301-4022119, Fax: +1-301-4022170

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Abstract

Parkinson’s disease is the second most common neurodegenerative disease after Alzheimer’s disease and is manifested as a movement disorder. A positive family history is the second most important risk factor for developing the illness, after age. Both autosomal dominant and recessive forms of the illness have been described. Recently deletions in a novel gene, parkin, have been associated with the autosomal recessive form of the illness in Japanese families. In this study, we demonstrate that deletions of exons 5, 6 and 7 of the parkin gene are present in two affected individuals of a Greek pedigree with early onset Parkinson’s disease. However, no deletions were identified in a different branch of the same pedigree with three affected individuals. These results suggest that deletions in the parkin gene will be found in other families besides those of Japanese origin and that there must be at least one additional locus responsible for early onset autosomal recessive Parkinson’s disease.