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

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Wu, R-M; Shan, D-E; Sun, C-M; Liu, R-S; Hwu, W-L; Tai, C-H; Hussey, J; West, A; Gwinn-Hardy, K; Hardy, J; Chen, J; Farrer, M; Lincoln, S

Published Date

  • July 2002

Published In

Volume / Issue

  • 17 / 4

Start / End Page

  • 670 - 675

PubMed ID

  • 12210855

Pubmed Central ID

  • 12210855

International Standard Serial Number (ISSN)

  • 0885-3185

Digital Object Identifier (DOI)

  • 10.1002/mds.10184

Language

  • eng

Conference Location

  • United States