Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease
Language English Country Sweden Media print
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
20424582
PII: NEL310210A05
Knihovny.cz E-resources
- MeSH
- Adult MeSH
- Phenotype MeSH
- Genetic Predisposition to Disease MeSH
- Heterozygote MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation * MeSH
- Parkinson Disease genetics physiopathology MeSH
- Polymerase Chain Reaction MeSH
- Polymorphism, Genetic MeSH
- Ubiquitin-Protein Ligases genetics MeSH
- Age of Onset MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Names of Substances
- parkin protein MeSH Browser
- Ubiquitin-Protein Ligases MeSH
OBJECTIVES: Mutations in several genes such as parkin can be detected in up to 20% of patients with early-onset Parkinson's disease (EOPD). The aim of our study was to determine the frequency of parkin alterations and phenotypic characteristics in Czech EOPD patients. METHODS: A total of 45 EOPD individuals (age at onset <45 years) were phenotyped and screened for parkin mutations. RESULTS: In total, 19 patients (42.2%) were carriers of previously described heterozygous genetic alterations. Parkin mutations (Ex2del, R402C) were identified in two (4.4%) cases, non-pathogenic variant A82E plus polymorphism D394N occurred in one (2.2%) patient and parkin polymorphisms (3x S167N, 1x R334C, 7x V380L, 4x D394N) were found in 15 (34.9%) individuals. Furthermore, the G2019S mutation in the LRRK2 gene was found in one (2.2%) subject. CONCLUSION: The clinical characteristics of our patients correspond to previous descriptions of EOPD phenotype. This is the first report on EOPD-associated genetic alterations among Czech patients. Our results support the hypothesis that single heterozygous parkin variants may act as risk factors for EOPD.
