Abstract Details

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

Topic Movement Disorders

Presentation(s) P2 - Poster Session 2 (8:00 AM-9:00 AM)

Poster/Presentation
Number 3-016

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

Authors/Disclosures
Lukasz Milanowski, MD (Mayo Clinic) PRESENTER	Dr. Milanowski has nothing to disclose.
	No disclosure on file
Maria Barcikowska, MD (MHAIA Neurological Clinic, Alzheimer Dept)	No disclosure on file
	No disclosure on file
	No disclosure on file
Angela B. Deutschlander, MD (Mayo Clinic)	No disclosure on file
	No disclosure on file
	No disclosure on file
Andrzej Friedman, MD (Klinika Neurolog 11, UL Ban-)	No disclosure on file
	No disclosure on file
Zygmunt Jamrozik, MDPHD	No disclosure on file
	No disclosure on file
	No disclosure on file
Anna Krygowska-Wajs, MD, PhD (Jagiellonian University)	No disclosure on file
	No disclosure on file
GRZEGORZ OPALA (Public Hospital Of Medical University Katowic)	No disclosure on file
	No disclosure on file
Irena Rektorova, MD	Dr. Rektorova has nothing to disclose.
Monika Rudzinska-Bar, MD, PhD (Krakowska Akademia Neurologii sp. z o.o.)	Dr. Rudzinska-Bar has nothing to disclose.
	No disclosure on file
Joanna Siuda	Joanna Siuda has nothing to disclose.
Jaroslaw Slawek, MD	No disclosure on file
Katarzyna Smilowska, MD (Slaskie Centrum Neurologii Katarzyna Smilowska)	No disclosure on file
	No disclosure on file
	No disclosure on file
Owen A. Ross, PhD (Mayo Clinic Jacksonville)	Dr. Ross has nothing to disclose.
Zbigniew K. Wszolek, MD, FAAN (Mayo Clinic- Jacksonville)	Dr. Wszolek has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Polish Neurological Society/Via Medica. Dr. Wszolek has received intellectual property interests from a discovery or technology relating to health care.

��ɫ��

��ɫ��