Article
Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.
Parkinsonism & related disorders - 1 May 2021
Milanowski Łukasz M, Lindemann Jennifer A, Hoffman-Zacharska Dorota, Soto-Beasley Alexandra I, Barcikowska Maria, Boczarska-Jedynak Magdalena, Deutschlander Angela, Kłodowska Gabriela, Dulski Jarosław, Fedoryshyn Lyuda, Friedman Andrzej, Jamrozik Zygmunt, Janik Piotr, Karpinsky Katherine, Koziorowski Dariusz, Krygowska-Wajs Anna, Jasińska-Myga Barbara, Opala Grzegorz, Potulska-Chromik Anna, Pulyk Aleksander, Rektorova Irena, Sanotsky Yanosh, Siuda Joanna, Sławek Jarosław, Śmiłowska Katarzyna, Szczechowski Lech, Rudzińska-Bar Monika, Walton Ronald L, Ross Owen A, Wszolek Zbigniew K
Abstract excerpt
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:...
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