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Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease

✍ Scribed by Elena V. Semenova; Maria I. Shadrina; Pyotr A. Slominsky; Irina A. Ivanova-Smolenskaya; Gulbakhar Bagyeva; Sergei N. Illarioshkin; Svetlana A. Limborska

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 1006 KB
Volume: 27
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.23901

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Background:

Deletions and duplications of single exons or exon groups account for a large proportion of the PARK2 gene mutations described in juvenile autosomal recessive Parkinson's disease (PD).

Methods:

We analyzed rearrangements in exons 1 to 12 of the PARK2 gene in Russian sporadic patients with early‐onset PD (EOPD) and late‐onset PD (LOPD).

Results:

The frequency of EOPD and LOPD patients carrying these mutations was 12.4% and 3.8%, respectively. The most frequent rearrangements were detected in exons 3 and 4. The odds ratio for EOPD in individuals carrying PARK2 exon deletions and duplications was 13.95 (95% confidence interval [CI], 1.846–105.46; P = .0022). In addition, we found a correlation between exon rearrangements in PARK2 and the age at onset of PD, presence of dystonia, and symmetrical course of the disease.

Conclusions:

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