Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease.
OBJECTIVE
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.


CONCLUSIONS
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.
Fiala
Ondrej
O
Department of Neurology, 1st Medical Faculty and General Teaching Hospital, Charles University, Prague, Czech Republic.
Pospisilova
Lenka
L
Prochazkova
Jana
J
Matejckova
Milada
M
Martasek
Pavel
P
Novakova
Lucie
L
Roth
Jan
J
Ruzicka
Evzen
E
D000328:Adult; D017668:Age of Onset; D018153:Czech Republic; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein