期刊
JOURNAL OF NEURAL TRANSMISSION
卷 111, 期 12, 页码 1575-1581出版社
SPRINGER WIEN
DOI: 10.1007/s00702-004-0165-4
关键词
DJ-1 gene; PARK7; autosomal recessive parkinsonism; PET neuroimaging
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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