Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease.
Neuro Endocrinol Lett
; 31(2): 187-92, 2010.
Article
em En
| MEDLINE
| ID: mdl-20424582
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Ubiquitina-Proteína Ligases
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Neuro Endocrinol Lett
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
República Tcheca