INTRODUCTION: Approximately 10% of patients with Parkinson disease (PD) present with early-onset disease (EOPD), defined as diagnosis before 50 years of age. Genetic factors are known to contribute to EOPD, with most commonly observed mutations in PRKN, PINK1, and DJ1 genes. The aim of our study was to analyze the frequency of PRKN, PINK1, and DJ1 mutations in an EOPD series from 4 neighboring European countries: Czech Republic, Germany, Poland, and Ukraine. METHODS: Diagnosis of PD was made based on UK Brain Bank diagnostic criteria in departments experienced in movement disorders (1 from Czech Republic, 1 from Germany, 9 from Poland, and 3 from Ukraine). EOPD was defined as onset at or before 50 years of age. Of the 541 patients recruited to the study, 11 were Czech, 38 German, 476 Polish, and 16 Ukrainian. All cohorts were fully screened with Sanger sequencing for PRKN, PINK1, and DJ1 and multiplex ligation-dependent probe amplification for exon dosage. RESULTS: PRKN homozygous or double heterozygous mutations were identified in 17 patients: 1 Czech (9.1%), 1 German (2.6%), 14 Polish (2.9%), and 1 Ukrainian (6.3%). PINK1 homozygous mutations were only identified in 3 Polish patients (0.6%). There were no homozygous or compound heterozygous DJ1 mutations in analyzed subpopulations. One novel variant in PRKN was identified in the Ukrainian series. CONCLUSION: In the analyzed cohorts, mutations in the genes PRKN, PINK1, and DJ1 are not frequently observed.

Applied Neuroscience Research Group Central European Institute of Technology Masaryk University Brno Czech Republic

Department of Medical Genetics Institute of Mother and Child Warsaw Poland

Department of Neurodegenerative Disorders Mossakowski Medical Research Centre Polish Academy of Science Warsaw Poland

Department of Neurology and Restorative Medicine Health Institute Dr Boczarska Jedynak Oświęcim Poland

Department of Neurology Faculty of Health Science Medical University of Warsaw Warsaw Poland

Department of Neurology Jagiellonian University Medical College Krakow Poland

Department of Neurology Mayo Clinic Jacksonville FL USA

Department of Neurology Mayo Clinic Jacksonville FL USA; Department of Neuroscience Mayo Clinic Jacksonville FL USA; Department of Neurology Faculty of Health Science Medical University of Warsaw Warsaw Poland

Department of Neurology Medical University of Silesia Katowice Poland

Department of Neurology Medical University of Warsaw Warsaw Poland

Department of Neurology St Adalbert Hospital Copernicus PL Ltd Gdańsk Poland; Department of Neurological and Psychiatric Nursing Medical University of Gdańsk Gdańsk Poland

Department of Neuroscience Mayo Clinic Jacksonville FL USA

Faculty of Medicine and Health Sciences Andrzej Frycz Modrzewski Kraków University Kraków Poland

Lviv Regional Clinical Hospital Lviv Ukraine

Neuro Care Clinic Siemianowice Śląskie Poland

Silesian Centre of Neurology Katowice Poland

Uzhhorod National University Uzhhorod Ukraine

Uzhhorod Regional Clinical Centre of Neurosurgery and Neurology Uzhhorod Ukraine

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