TY - JOUR
T1 - Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe
AU - Milanowski, Łukasz M.
AU - Lindemann, Jennifer A.
AU - Hoffman-Zacharska, Dorota
AU - Soto-Beasley, Alexandra I.
AU - Barcikowska, Maria
AU - Boczarska-Jedynak, Magdalena
AU - Deutschlander, Angela
AU - Kłodowska, Gabriela
AU - Dulski, Jarosław
AU - Fedoryshyn, Lyuda
AU - Friedman, Andrzej
AU - Jamrozik, Zygmunt
AU - Janik, Piotr
AU - Karpinsky, Katherine
AU - Koziorowski, Dariusz
AU - Krygowska-Wajs, Anna
AU - Jasińska-Myga, Barbara
AU - Opala, Grzegorz
AU - Potulska-Chromik, Anna
AU - Pulyk, Aleksander
AU - Rektorova, Irena
AU - Sanotsky, Yanosh
AU - Siuda, Joanna
AU - Sławek, Jarosław
AU - Śmiłowska, Katarzyna
AU - Szczechowski, Lech
AU - Rudzińska-Bar, Monika
AU - Walton, Ronald L.
AU - Ross, Owen A.
AU - Wszolek, Zbigniew K.
N1 - Publisher Copyright:
© 2021 Elsevier Ltd
PY - 2021/5
Y1 - 2021/5
N2 - 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.
AB - 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.
KW - Central Europe
KW - DJ1
KW - Early-onset Parkinson disease
KW - PINK1
KW - PRKN
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UR - http://www.scopus.com/inward/citedby.url?scp=85104123073&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2021.03.026
DO - 10.1016/j.parkreldis.2021.03.026
M3 - Article
C2 - 33845304
AN - SCOPUS:85104123073
SN - 1353-8020
VL - 86
SP - 48
EP - 51
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -