Complex relationship between Parkin mutations and Parkinson disease.
Journal Article (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 8, 2002
Published In
Volume / Issue
- 114 / 5
Start / End Page
- 584 - 591
PubMed ID
- 12116199
International Standard Serial Number (ISSN)
- 0148-7299
Digital Object Identifier (DOI)
- 10.1002/ajmg.10525
Language
- eng
Conference Location
- United States