PET neuroimaging and mutations in the DJ-1 gene.
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.
Dekker
M C J
MC
Genetic-Epidemiologic Unit, Departments of Epidemiology & Biostatistics and Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. m.dekker@neuro.umcn.nl
Eshuis
S A
SA
Maguire
R P
RP
Veenma-van der Duijn
L
L
Pruim
J
J
Snijders
P J L M
PJ
Oostra
B A
BA
van Duijn
C M
CM
Leenders
K L
KL
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
D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1