Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease

Koziorowski, Dariusz; Hoffman-Zacharska, Dorota; Sławek, Jarosław; Szirkowiec, Walentyna; Janik, Piotr; Bal, Jerzy; Friedman, Andrzej

doi:10.1016/j.parkreldis.2009.06.010

« Previous Next »Parkinsonism & Related Disorders
Volume 16, Issue 2 , Pages 136-138, February 2010

Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease☆

Dariusz Koziorowski
- Department of Neurology, Faculty of Heath Science, Medical University of Warsaw, Kondratowicza 8, 03-242 Warsaw, Poland
- Corresponding author. Tel./fax: +48 22 3265815.
Dorota Hoffman-Zacharska
- Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Jarosław Sławek
- Department of Neurological and Psychiatric Nursing, Medical University, Gdansk, Poland
- Department of Neurology, St. Adalbert Hospital, Gdansk, Poland
Walentyna Szirkowiec
- Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
Piotr Janik
- Department of Neurology, Medical University of Warsaw, Poland
Jerzy Bal
- Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Andrzej Friedman
- Department of Neurology, Faculty of Heath Science, Medical University of Warsaw, Kondratowicza 8, 03-242 Warsaw, Poland

Received 15 March 2009; received in revised form 12 May 2009; accepted 16 June 2009.

Abstract

Objective

Mutations in the PARK2 (Parkin) gene result in an early-onset autosomal recessive form of Parkinson Disease (EO-PD). Although the frequency of the PARK2 mutations in EO-PD patients according to several studies is high and has been reported in up to 50% in familial and 19% in sporadic cases, these data remain controversial.

Methods

We performed PARK2 gene analysis for a group of 79 Polish EO-PD patients with onset of disease below the age of 40. All exons were directly sequenced and the exons' copy number variations were analyzed.

Results

Mutations in PARK2 gene were found in 3 patients (3.8%), in two sporadic cases in both alleles (2.5%) and in a familial case in only one allele (1.3%). We identified point mutations as well as exon rearrangements (duplication, deletion).