Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations
- 22 April 2004
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 19 (7) , 796-800
- https://doi.org/10.1002/mds.20131
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 the genetic epidemiology of PD. This study includes sequence analysis of the DJ‐1 gene in addition to assaying the 14,082‐bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ‐1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5′ untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ‐1 gene are rare in EOPD in both sporadic and familial cases. © 2004 Movement Disorder SocietyKeywords
Funding Information
- National Parkinson's Disease Foundation
- Parkinson's Disease Foundation
- National Institutes of Health (NS36630, RR00645, NS39422, PO1AG07232)
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