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

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

Research output: Contribution to journalArticlepeer-review

70 Scopus citations


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 languageEnglish (US)
Pages (from-to)796-800
Number of pages5
JournalMovement Disorders
Issue number7
StatePublished - Jul 2004
Externally publishedYes


  • DJ-1
  • Early onset
  • Multiethnic cohort
  • Mutations
  • Parkinson's disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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