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

✍ Scribed by Ruey-Meei Wu; Din-E Shan; Chen-Ming Sun; Ren-Shyan Liu; Wuh-Liang Hwu; Chun-Hwei Tai; Jennifer Hussey; Andrew West; Katrina Gwinn-Hardy; John Hardy; Judy Chen; Matt Farrer; Sarah Lincoln

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 276 KB
• Volume: 17
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.10184

✦ Synopsis

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.