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

MILANOWSKI, L.M., J.A. LINDEMANN, D. HOFFMAN-ZACHARSKA, A.I. SOTO-BEASLEY, M. BARCIKOWSKA, M. BOCZARSKA-JEDYNAK, A. DEUTSCHLANDER, G. KLODOWSKA, J. DULSKI, L. FEDORYSHYN, A. FRIEDMAN, Z. JAMROZIK, P. JANIK, K. KARPINSKY, D. KOZIOROWSKI, A. KRYGOWSKA-WAJS, B. JASINSKA-MYGA, G. OPALA, A. POTULSKA-CHROMIK, A. PULYK, Irena REKTOROVÁ, Y. SANOTSKY, J. SIUDA, K. SMILOWSKA, L. SZCZECHOWSKI, M. RUDZINSKA-BAR, R.L. WALTON, O.A. ROSS and Z.K. WSZOLEK. Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe. PARKINSONISM & RELATED DISORDERS. OXFORD: ELSEVIER SCI LTD, 2021, vol. 86, MAY, p. 48-51. ISSN 1353-8020. Available from: https://dx.doi.org/10.1016/j.parkreldis.2021.03.026.

Basic information

• Original name: Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe
• Authors: MILANOWSKI, L.M., J.A. LINDEMANN, D. HOFFMAN-ZACHARSKA, A.I. SOTO-BEASLEY, M. BARCIKOWSKA, M. BOCZARSKA-JEDYNAK, A. DEUTSCHLANDER, G. KLODOWSKA, J. DULSKI, L. FEDORYSHYN, A. FRIEDMAN, Z. JAMROZIK, P. JANIK, K. KARPINSKY, D. KOZIOROWSKI, A. KRYGOWSKA-WAJS, B. JASINSKA-MYGA, G. OPALA, A. POTULSKA-CHROMIK, A. PULYK, Irena REKTOROVÁ (203 Czech Republic, guarantor, belonging to the institution), Y. SANOTSKY, J. SIUDA, K. SMILOWSKA, L. SZCZECHOWSKI, M. RUDZINSKA-BAR, R.L. WALTON, O.A. ROSS and Z.K. WSZOLEK.
• Edition: PARKINSONISM & RELATED DISORDERS, OXFORD, ELSEVIER SCI LTD, 2021, 1353-8020.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 30103 Neurosciences
• Country of publisher: United Kingdom of Great Britain and Northern Ireland
• Confidentiality degree: is not subject to a state or trade secret
• WWW: URL
• Impact factor: Impact factor: 4.402
• RIV identification code: RIV/00216224:14740/21:00124294
• Organization unit: Central European Institute of Technology
• Doi: http://dx.doi.org/10.1016/j.parkreldis.2021.03.026
• UT WoS: 000658803800011
• Keywords in English: Early-onset Parkinson disease; DJ1; PRKN; PINK1; Central Europe
• Tags: rivok
• Tags: International impact, Reviewed

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.