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 [11C]-CFT positron emission tomography. A marked bilaterally and dissymmetrically decrement of [11C]-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 [11C]-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.
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Acknowledgments
This work was supported by grant 2006cb500700 from the Major State Basic Research Development Program of China (973 Program) (to Dr. Beisha Tang), grant 2006AA02A408 from the National “863” High-Tech Research and Development Program of China (to Dr. Beisha Tang), grants 30570638, 30770735 and 30971035 from the National Natural Science Foundation of China (to Dr. Beisha Tang), grants 30900469 from the National Natural Science Foundation of China (to Dr. Jifeng Guo). We would like to thank the family for their participation in this study.
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Guo, Jf., Wang, L., He, D. et al. Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism. Neurol Sci 32, 35–40 (2011). https://doi.org/10.1007/s10072-010-0360-z
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DOI: https://doi.org/10.1007/s10072-010-0360-z