Complex relationship between Parkin mutations and Parkinson disease.
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.
Duke Scholars
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Related Subject Headings
- Ubiquitin-Protein Ligases
- Sequence Deletion
- Review Literature as Topic
- Promoter Regions, Genetic
- Polymorphism, Single Nucleotide
- Parkinson Disease
- Mutation
- Middle Aged
- Male
- Ligases
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Ubiquitin-Protein Ligases
- Sequence Deletion
- Review Literature as Topic
- Promoter Regions, Genetic
- Polymorphism, Single Nucleotide
- Parkinson Disease
- Mutation
- Middle Aged
- Male
- Ligases