1. Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.
- Author
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Wu RM, Shan DE, Sun CM, Liu RS, Hwu WL, Tai CH, Hussey J, West A, Gwinn-Hardy K, Hardy J, Chen J, Farrer M, and Lincoln S
- Subjects
- Adult, Alleles, Caudate Nucleus diagnostic imaging, Caudate Nucleus physiopathology, Chromosome Deletion, Chromosomes, Human, Pair 6, Dominance, Cerebral physiology, Dopamine physiology, Female, Haplotypes, Humans, Male, Parkinson Disease diagnostic imaging, Parkinson Disease physiopathology, Pedigree, Putamen diagnostic imaging, Putamen physiopathology, RNA, Messenger genetics, Receptors, Presynaptic physiology, Taiwan, Asian People genetics, Fluorodeoxyglucose F18, Ligases genetics, Mutation genetics, Parkinson Disease genetics, Tomography, Emission-Computed, Ubiquitin-Protein Ligases
- Abstract
We report on clinical (18)F-labeled 6-fluorodopa ((18)F-dopa) positron emission tomography (PET) and molecular genetic analyses of an ethnic Chinese family in which three siblings presented with early-onset Parkinson's disease. As described in some parkin patients, neither sleep benefit nor diurnal fluctuation was noted. Interestingly, depression, anxiety, and obsessive-compulsive disorders were manifest. The (18)F-dopa PET scans showed bilateral presynaptic dopaminergic dysfunction without marked lateralization. Molecular genetic analysis showed identical chromosome 6 haplotypes inherited by affected subjects, with alternate allelic deletions of parkin exons 3 and 4. Furthermore, mRNA analyses identified aberrantly spliced parkin transcripts, suggesting that unusual parkin protein isoforms may be expressed in the brain and retain some function., (Copyright 2002 Movement Disorder Society)
- Published
- 2002
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