Clinical, 18F‐dopa PET, and genetic analysis of an ethnic Chinese kindred with early‐onset parkinsonism and parkin gene mutations

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Abstract
We report on clinical 18F‐labeled 6‐fluorodopa (18F‐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 18F‐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. © 2002 Movement Disorder Society