PET neuroimaging and mutations in the DJ-1 gene

MCJ Dekker*, SA Eshuis, RP Maguire, L Veenma-van der Duijn, J Pruim, BA Oostra, CM van Duijn, KL Leenders

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

30 Citations (Scopus)

Abstract

Mutations in the DJ-1 gene lead to autosomal recessive early-onset parkinsonism. We performed F-DOPA and FDG PET neuroimaging in two parkinsonism patients homozygous for DJ-1 mutations, three relatives heterozygous for a DJ-1 mutation and one non-carrier, all from the originally described kindred from The Netherlands. Their characteristics were compared to those of typical Parkinson's disease patients and healthy controls. Both parkinsonism patients had reduced F-DOPA uptake concordant with typical Parkinson's disease. In the, clinically unaffected, heterozygous relatives, F-DOPA metabolism was unremarkable, thus not suggesting a dosage effect of the DJ-1 gene.

Original languageEnglish
Pages (from-to)1575-1581
Number of pages7
JournalJournal of Neural Transmission
Volume111
Issue number12
DOIs
Publication statusPublished - Dec-2004

Keywords

  • DJ-1 gene
  • PARK7
  • autosomal recessive parkinsonism
  • PET neuroimaging
  • NIGROSTRIATAL DOPAMINERGIC SYSTEM
  • POSITRON EMISSION TOMOGRAPHY
  • EARLY-ONSET PARKINSONISM
  • DISEASE
  • DYSFUNCTION

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