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.
Original language | English (US) |
---|---|
Pages (from-to) | 796-800 |
Number of pages | 5 |
Journal | Movement Disorders |
Volume | 19 |
Issue number | 7 |
DOIs | |
State | Published - Jul 2004 |
Externally published | Yes |
Keywords
- DJ-1
- Early onset
- Multiethnic cohort
- Mutations
- Parkinson's disease
ASJC Scopus subject areas
- Neurology
- Clinical Neurology