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.

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Journal of Neural Transmission. General Section
Department of Clinical Genetics

Dekker, M., Eshuis, S., Maguire, R., Veenma-Van Der Duijn, L., Pruim, J., Snijders, P., … Leenders, K. (2004). PET neuroimaging and mutations in the DJ-1 gene. Journal of Neural Transmission. General Section, 111(12), 1575–1581. doi:10.1007/s00702-004-0165-4