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

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

journal_name

Parkinsonism Relat Disord

journal_title

Parkinsonism & related disorders

authors

Koziorowski D,Hoffman-Zacharska D,Sławek J,Szirkowiec W,Janik P,Bal J,Friedman A

doi

10.1016/j.parkreldis.2009.06.010

subject

Has Abstract

pub_date

2010-02-01 00:00:00

pages

136-8

issue

2

eissn

1353-8020

issn

1873-5126

pii

S1353-8020(09)00170-9

journal_volume

16

pub_type

杂志文章

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