PARK2, PINK1, and DJ1 in patients with early-onset Parkinson's disease in four European countries.

Objective: To establish the frequency of PARK2, PINK1, DJ1 mutations in Polish, German, Ukrainian and Czech early onset PD (EO-PD). Background: Parkinson disease (PD) is one of the most common neurodegenerative disorder. Genetic factors are important in patients with positive family history or early age of onset. PARK2, PINK1, DJ1 genes are most common cause of monogenic early onset forms of PD. Increasing access to genetic methodology has caused many populations to be screened for these mutations. Design/Methods: A total of 2186 EOPD (age of onset 50 and below) individuals from four neighboring countries were included into this study. From the total number of 1661 Polish, 327 German, 141 Ukrainian, 61 Czech PD patients, EO-PD was diagnosed in 519 (31.2%) Polish, 58 (17.7%) German, 30 (21.3%) Ukrainian, 11 (18.0%) Czech patients. All study participants were diagnosed with PD by the experienced movement disorders neurologists. Molecular analysis included identification of rearrangements and point mutations in PARK2, PINK1, DJ1. Results: 1 (2.6%) homozygous mutation in German population, 1 (9.1%) compound heterozygous mutation in Czech population, 2 (6.6%) compound heterozygous mutations in Ukrainian population and 13 (2.5%) homozygous/compound heterozygous mutation in Polish population in PARK2 gene. Only one homozygous mutation in PINK1 gene was described in Polish population. There were no DJ1 mutation in analyzed populations. Conclusions: Comparing to other populations mutations in PARK2, PINK1 are rare. There were no DJ1 homozygous/compound heterozygous mutation. Clinical phenotype in analyzed populations is similar to previously reported Disclosure: Dr. Milanowski has nothing to disclose. Dr. Lindemann has nothing to disclose. Dr. Barcikowska has nothing to disclose. Dr. Boczarska-Jedynak has nothing to disclose. Dr. Czyzewski has nothing to disclose. Dr. Deutschlander has received research support from Allergan, Inc.. Dr. Duda has nothing to disclose. Dr. Fedoryshyn has nothing to disclose. Dr. Friedman has received research support from Merz. Dr. Hoffman-Zacharska has nothing to disclose. Dr. Jamrozik has nothing to disclose. Dr. Karpinsky has nothing to disclose. Dr. Koziorowski has nothing to disclose. Dr. Krygowska-Wajs has nothing to disclose. Dr. Myga has nothing to disclose. Dr. OPALA has nothing to disclose. Dr. Pulyk has nothing to disclose. Dr. Rektorova has nothing to disclose. Dr. Rudzinska-Bar has nothing to disclose. Dr. Sanotsky has nothing to disclose. Dr. Siuda has nothing to disclose. Dr. Slawek has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Novartis, Allergan, Merz, Ipsen, Roche. Dr. Slawek has received personal compensation in an editorial capacity for Polish Neurological Society. Dr. Smilowska has nothing to disclose. Dr. Szczechowski has nothing to disclose. Dr. Beasley has nothing to disclose. Dr. Ross has nothing to disclose. Dr. Wszolek has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with grants from Abbvie, Inc. (M15-562, M15-563, and laboratory based grant), grants from Biogen, Inc. (228PD201) grant. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G (G2019S)\".