P3.098 Molecular analysis PARK2 and DJ-1 mutations in Polish early onset Parkinson's disease patients
✍ Scribed by D. Koziorowski; D. Hoffman-Zacharska; A. Romańczuk; J. Slawek; J. Bal; A. Friedman
- Book ID
- 117753865
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 63 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1353-8020
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## Abstract The frequency and relative contribution of DJ‐1 mutations in early‐onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of
## Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early-onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quanti