title: Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease.
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.
authors.affiliation: Gene Mapping Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: E
authors.initials: E
authors.lastname: Leroy
authors.forename: D
authors.initials: D
authors.lastname: Anastasopoulos
authors.forename: S
authors.initials: S
authors.lastname: Konitsiotis
authors.forename: C
authors.initials: C
authors.lastname: Lavedan
authors.forename: M H
authors.initials: MH
authors.lastname: Polymeropoulos
mesh_terms: D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006115:Greece; D006801:Humans; D008126:Lod Score; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion