Dataset Information

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

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.

SUBMITTER: Milanowski LM

PROVIDER: S-EPMC8192481 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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Publications

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

Milanowski Łukasz M ŁM Lindemann Jennifer A JA Hoffman-Zacharska Dorota D Soto-Beasley Alexandra I AI Barcikowska Maria M Boczarska-Jedynak Magdalena M Deutschlander Angela A Kłodowska Gabriela G Dulski Jarosław J Fedoryshyn Lyuda L Friedman Andrzej A Jamrozik Zygmunt Z Janik Piotr P Karpinsky Katherine K Koziorowski Dariusz D Krygowska-Wajs Anna A Jasińska-Myga Barbara B Opala Grzegorz G Potulska-Chromik Anna A Pulyk Aleksander A Rektorova Irena I Sanotsky Yanosh Y Siuda Joanna J Sławek Jarosław J Śmiłowska Katarzyna K Szczechowski Lech L Rudzińska-Bar Monika M Walton Ronald L RL Ross Owen A OA Wszolek Zbigniew K ZK

Parkinsonism & related disorders 20210402

<h4>Introduction</h4>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.<h4>Methods</h4>Diagnosis of PD ...[more]

PMID: 33845304

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Dataset Information

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

Introduction

Methods

Results

Conclusion

Publications

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

Similar Datasets

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