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Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations

✍ Scribed by Lorraine N. Clark; Shehla Afridi; Helen Mejia-Santana; Juliette Harris; Elan D. Louis; Lucien J. Cote; Howard Andrews; Andrew Singleton; Fabienne Wavrant De-Vrieze; John Hardy; Richard Mayeux; Stanley Fahn; Cheryl Waters; Blair Ford; Steven Frucht; Ruth Ottman; Karen Marder

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
354 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

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 Β± SD, 41.5 Β± 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 5β€² 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. Β© 2004 Movement Disorder Society

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