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. 2021 May:86:48-51.
doi: 10.1016/j.parkreldis.2021.03.026. Epub 2021 Apr 2.

Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe

Łukasz M Milanowski  1 , Jennifer A Lindemann  2 , Dorota Hoffman-Zacharska  3 , Alexandra I Soto-Beasley  2 , Maria Barcikowska  4 , Magdalena Boczarska-Jedynak  5 , Angela Deutschlander  6 , Gabriela Kłodowska  7 , Jarosław Dulski  8 , Lyuda Fedoryshyn  9 , Andrzej Friedman  10 , Zygmunt Jamrozik  11 , Piotr Janik  11 , Katherine Karpinsky  12 , Dariusz Koziorowski  10 , Anna Krygowska-Wajs  13 , Barbara Jasińska-Myga  14 , Grzegorz Opala  14 , Anna Potulska-Chromik  11 , Aleksander Pulyk  15 , Irena Rektorova  16 , Yanosh Sanotsky  9 , Joanna Siuda  14 , Jarosław Sławek  8 , Katarzyna Śmiłowska  17 , Lech Szczechowski  17 , Monika Rudzińska-Bar  18 , Ronald L Walton  2 , Owen A Ross  2 , Zbigniew K Wszolek  19
Affiliations

Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe

Łukasz M Milanowski et al. Parkinsonism Relat Disord. 2021 May.

Abstract

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.

Keywords: Central Europe; DJ1; Early-onset Parkinson disease; PINK1; PRKN.

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