Abstract
Mutations in the Parkin, PINK1, and DJ-1 genes can cause autosomal recessive early onset Parkinsonism. We studied three families with the mutations of the Parkin, PINK1 and DJ-1 genes, respectively, with a dopamine transporter ligand [(11)C]-CFT positron emission tomography. A marked bilaterally and dissymmetrically decrement of [(11)C]-CFT uptake was found in all these patients, and putamen as well as caudate nucleus was affected. We also found asymptomatic Parkin and PINK1 heterozygotes showed a mild but significant decrement in [(11)C]-CFT uptake, but this phenomenon was not found in the DJ-1-heterozygotes. Our results suggested the three autosomal recessive forms of early onset are similar to each other on pathophysiological grounds, a sub-clinical disease process in Parkin and PINK1-heterozygotes, but not in DJ-1-heterozygotes.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Brain Mapping
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Carbon Isotopes
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Cocaine / analogs & derivatives
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Family Health
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Humans
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Intracellular Signaling Peptides and Proteins / genetics*
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Intracellular Signaling Peptides and Proteins / metabolism
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Male
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Mutation / genetics
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Oncogene Proteins / genetics*
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Oncogene Proteins / metabolism
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Parkinsonian Disorders / diagnostic imaging*
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Parkinsonian Disorders / genetics*
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Positron-Emission Tomography / methods
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Protein Deglycase DJ-1
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Protein Kinases / genetics*
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Protein Kinases / metabolism
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Ubiquitin-Protein Ligases / genetics*
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Ubiquitin-Protein Ligases / metabolism
Substances
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Carbon Isotopes
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Intracellular Signaling Peptides and Proteins
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Oncogene Proteins
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difluoropine
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Ubiquitin-Protein Ligases
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parkin protein
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Protein Kinases
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PTEN-induced putative kinase
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PARK7 protein, human
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Protein Deglycase DJ-1
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Cocaine