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

Publication ,  Journal Article
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 in: Mov Disord
July 2002

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.

Duke Scholars

Published In

Mov Disord

DOI

ISSN

0885-3185

Publication Date

July 2002

Volume

17

Issue

4

Start / End Page

670 / 675

Location

United States

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Tomography, Emission-Computed
  • Taiwan
  • Receptors, Presynaptic
  • RNA, Messenger
  • Putamen
  • Pedigree
  • Parkinson Disease
  • Neurology & Neurosurgery
  • Mutation
 

Citation

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MLA
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Wu, R.-M., Shan, D.-E., Sun, C.-M., Liu, R.-S., Hwu, W.-L., Tai, C.-H., … Lincoln, S. (2002). Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord, 17(4), 670–675. https://doi.org/10.1002/mds.10184
Wu, Ruey-Meei, Din-E Shan, Chen-Ming Sun, Ren-Shyan Liu, Wuh-Liang Hwu, Chun-Hwei Tai, Jennifer Hussey, et al. “Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.Mov Disord 17, no. 4 (July 2002): 670–75. https://doi.org/10.1002/mds.10184.
Wu R-M, Shan D-E, Sun C-M, Liu R-S, Hwu W-L, Tai C-H, et al. Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord. 2002 Jul;17(4):670–5.
Wu, Ruey-Meei, et al. “Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.Mov Disord, vol. 17, no. 4, July 2002, pp. 670–75. Pubmed, doi:10.1002/mds.10184.
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. Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord. 2002 Jul;17(4):670–675.
Journal cover image

Published In

Mov Disord

DOI

ISSN

0885-3185

Publication Date

July 2002

Volume

17

Issue

4

Start / End Page

670 / 675

Location

United States

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Tomography, Emission-Computed
  • Taiwan
  • Receptors, Presynaptic
  • RNA, Messenger
  • Putamen
  • Pedigree
  • Parkinson Disease
  • Neurology & Neurosurgery
  • Mutation