Complex relationship between Parkin mutations and Parkinson disease.

Published

Journal Article

Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin-related disease is presumed to be an autosomal-recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re-evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haplo-insufficiency may be sufficient for disease in some cases.

Full Text

Duke Authors

Cited Authors

  • West, A; Periquet, M; Lincoln, S; Lücking, CB; Nicholl, D; Bonifati, V; Rawal, N; Gasser, T; Lohmann, E; Deleuze, J-F; Maraganore, D; Levey, A; Wood, N; Dürr, A; Hardy, J; Brice, A; Farrer, M; French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility on Parkinson's Disease,

Published Date

  • July 2002

Published In

Volume / Issue

  • 114 / 5

Start / End Page

  • 584 - 591

PubMed ID

  • 12116199

Pubmed Central ID

  • 12116199

Electronic International Standard Serial Number (EISSN)

  • 1096-8628

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.10525

Language

  • eng