title: PET neuroimaging and mutations in the DJ-1 gene.
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.
authors.affiliation: Genetic-Epidemiologic Unit, Departments of Epidemiology & Biostatistics and Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. m.dekker@neuro.umcn.nl
authors.forename: M C J
authors.initials: MC
authors.lastname: Dekker
authors.forename: S A
authors.initials: SA
authors.lastname: Eshuis
authors.forename: R P
authors.initials: RP
authors.lastname: Maguire
authors.forename: L
authors.initials: L
authors.lastname: Veenma-van der Duijn
authors.forename: J
authors.initials: J
authors.lastname: Pruim
authors.forename: P J L M
authors.initials: PJ
authors.lastname: Snijders
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: C M
authors.initials: CM
authors.lastname: van Duijn
authors.forename: K L
authors.initials: KL
authors.lastname: Leenders
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging*; D049268:Positron-Emission Tomography; D000071617:Protein Deglycase DJ-1
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1