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. 2004 Jul;19(7):796-800.
doi: 10.1002/mds.20131.

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

Lorraine N Clark  1   2 , Shehla Afridi  1 , Helen Mejia-Santana  3 , Juliette Harris  4 , Elan D Louis  1   3   4 , Lucien J Cote  3   4 , Howard Andrews  3   5 , Andrew Singleton  6 , Fabienne Wavrant De-Vrieze  7 , John Hardy  7 , Richard Mayeux  1   3   4   8 , Stanley Fahn  4 , Cheryl Waters  4 , Blair Ford  4 , Steven Frucht  4 , Ruth Ottman  3   5   8   9 , Karen Marder  1   3   4   8
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Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations

Lorraine N Clark et al. Mov Disord. 2004 Jul.

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.

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