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

Autor: Milanowski ŁM; 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., Lindemann JA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Soto-Beasley AI; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Barcikowska M; Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Science, Warsaw, Poland., Boczarska-Jedynak M; Department of Neurology and Restorative Medicine, Health Institute Dr Boczarska-Jedynak, Oświęcim, Poland., Deutschlander A; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA., Kłodowska G; Neuro-Care Clinic, Siemianowice Śląskie, Poland., Dulski J; Department of Neurology, St. Adalbert Hospital, Copernicus PL Ltd, Gdańsk, Poland; Department of Neurological and Psychiatric Nursing, Medical University of Gdańsk, Gdańsk, Poland., Fedoryshyn L; Lviv Regional Clinical Hospital, Lviv, Ukraine., Friedman A; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland., Jamrozik Z; Department of Neurology, Medical University of Warsaw, Warsaw, Poland., Janik P; Department of Neurology, Medical University of Warsaw, Warsaw, Poland., Karpinsky K; Uzhhorod Regional Clinical Centre of Neurosurgery and Neurology, Uzhhorod, Ukraine., Koziorowski D; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland., Krygowska-Wajs A; Department of Neurology, Jagiellonian University Medical College, Krakow, Poland., Jasińska-Myga B; Department of Neurology, Medical University of Silesia, Katowice, Poland., Opala G; Department of Neurology, Medical University of Silesia, Katowice, Poland., Potulska-Chromik A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland., Pulyk A; Uzhhorod National University, Uzhhorod, Ukraine., Rektorova I; Applied Neuroscience Research Group, Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Sanotsky Y; Lviv Regional Clinical Hospital, Lviv, Ukraine., Siuda J; Department of Neurology, Medical University of Silesia, Katowice, Poland., Sławek J; Department of Neurology, St. Adalbert Hospital, Copernicus PL Ltd, Gdańsk, Poland; Department of Neurological and Psychiatric Nursing, Medical University of Gdańsk, Gdańsk, Poland., Śmiłowska K; Silesian Centre of Neurology, Katowice, Poland., Szczechowski L; Silesian Centre of Neurology, Katowice, Poland., Rudzińska-Bar M; Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Kraków University, Kraków, Poland., Walton RL; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: Wszolek.Zbigniew@mayo.edu.
Jazyk: angličtina
Zdroj: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2021 May; Vol. 86, pp. 48-51. Date of Electronic Publication: 2021 Apr 02.
DOI: 10.1016/j.parkreldis.2021.03.026
Abstrakt: 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.
(Copyright © 2021 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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