1. PET neuroimaging and mutations in the DJ-1 gene.
- Author
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Dekker, M.C.J., Eshuis, S.A., Maguire, R.P., Veenma-van der Duijn, L., Pruim, J., Snijders, P.J.L.M., Oostra, B.A., van Duijn, C.M., and Leenders, K.L.
- Subjects
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PARKINSON'S disease , *GENETIC mutation , *GENES , *DIAGNOSTIC imaging , *METABOLISM - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2004
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