Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease

  title={Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease},
  author={Ondrej Fiala and D Zahorakova and Lenka Posp{\'i}{\vs}ilov{\'a} and Jana Rud{\'a} Ku{\vc}erov{\'a} and Milada Matěj{\vc}kov{\'a} and Pavel Mart{\'a}sek and Jan Roth and Ev{\vz}en Rů{\vz}i{\vc}ka and Oscar Arias-Carri{\'o}n},
  booktitle={PloS one},
OBJECTIVE The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls. METHODS A total of 70 early-onset Parkinson's disease patients (age at onset ≤40 years) and 75 controls were screened for the sequence variants and exon rearrangements in the parkin gene. RESULTS Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon… CONTINUE READING
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