DJ-1 mutations in Parkinson's disease

D. G. Healy, P. M. Abou-Sleiman, E. M. Valente, W. P. Gilks, K. Bhatia, N. Quinn, A. J. Lees, N. W. Wood

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the DJ-1 gene have recently been shown to cause autosomal recessive Parkinson's disease. To estimate the prevalence of this mutation, an analysis was undertaken of 39 index cases of Parkinson's disease in whom a family history suggested autosomal recessive inheritance. No DJ-1 mutations were found in these patients, indicating that this gene is unlikely to be of numerical significance in clinical practice. The hypothesis was also tested that young onset Parkinson's disease patients in whom, despite extensive analysis, only a single heterozygous parkin mutation was found, might harbour a second mutation in the DJ-1 gene -that is, digenic inheritance. No patient was found with a single mutation in both DJ-1 and parkin genes, making this mode of inheritance unlikely. Finally it was confirmed that PARK6 and PARK7 (DJ-1), despite being phenotypically similar and mapping to the same small chromosomal region of 1p36, are caused by mutations in separate genes.

Original languageEnglish
Pages (from-to)144-145
Number of pages2
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume75
Issue number1
Publication statusPublished - Jan 2004

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

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