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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 publication

DOI

10.1007/s00702-004-0165-4

Type

Journal article

Journal

Journal of neural transmission (Vienna, Austria : 1996)

Publication Date

12/2004

Volume

111

Pages

1575 - 1581

Addresses

Genetic-Epidemiologic Unit, Departments of Epidemiology & Biostatistics and Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. m.dekker@neuro.umcn.nl

Keywords

Brain, Humans, Parkinsonian Disorders, Intracellular Signaling Peptides and Proteins, Oncogene Proteins, Positron-Emission Tomography, Mutation