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

作者：Koziorowski Dariusz^*; Hoffman Zacharska Dorota; Slawek Jaroslaw; Szirkowiec Walentyna; Janik Piotr; Bal Jerzy; Friedman Andrzej

来源：Parkinsonism & Related Disorders, 2010, 16(2): 136-138.

DOI：10.1016/j.parkreldis.2009.06.010

• Early-onset Parkinson disease (EO-PD)
• PARK2 gene
• Gene mutations

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).
Conclusions: The frequency of the PARK2 mutations our Polish group with EO-PD seems to be lower than in other previously described groups.

• 出版日期2010-2