Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism
| Autor: | Qiao-hong Ou Yang, Li-luo Nie, Xue-wei Zhang, Zhong-xiang Duan, Dan He, Lei Wang, Xinxiang Yan, Beisha Tang, Jifeng Guo |
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| Rok vydání: | 2010 |
| Předmět: |
Male
medicine.medical_specialty Ubiquitin-Protein Ligases Protein Deglycase DJ-1 Caudate nucleus PINK1 Dermatology Asymptomatic Parkin Cocaine Parkinsonian Disorders Internal medicine medicine Humans Dopamine transporter Family Health Oncogene Proteins Brain Mapping Carbon Isotopes biology Putamen Intracellular Signaling Peptides and Proteins PARK7 Heterozygote advantage General Medicine nervous system diseases Psychiatry and Mental health Endocrinology Positron-Emission Tomography Mutation biology.protein Neurology (clinical) medicine.symptom Protein Kinases |
| Zdroj: | Neurological Sciences. 32:35-40 |
| ISSN: | 1590-3478 1590-1874 |
| DOI: | 10.1007/s10072-010-0360-z |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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