title: Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication.
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.
authors.affiliation: Department of Human Molecular Genetics, Ruhr-University, Bochum, Federal Republic of Germany.
authors.forename: R
authors.initials: R
authors.lastname: Krüger
authors.forename: A M
authors.initials: AM
authors.lastname: Vieira-Säcker
authors.forename: W
authors.initials: W
authors.lastname: Kuhn
authors.forename: T
authors.initials: T
authors.lastname: Müller
authors.forename: D
authors.initials: D
authors.lastname: Woitalla
authors.forename: L
authors.initials: L
authors.lastname: Schöls
authors.forename: H
authors.initials: H
authors.lastname: Przuntek
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: O
authors.initials: O
authors.lastname: Riess
mesh_terms: D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive; D005858:Germany; D006720:Homozygote; D006801:Humans; D008025:Ligases; D008875:Middle Aged; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D044767:Ubiquitin-Protein Ligases
chemical_list: D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases