Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations
Journal
Movement Disorders
Journal Volume
17
Journal Issue
4
Pages
670-675
Date Issued
2002
Author(s)
Shan D.-E.
Sun C.-M.
Liu R.-S.
Hussey J.
West A.
Gwinn-Hardy K.
Hardy J.
Chen J.
Farrer M.
Lincoln S.
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.
SDGs
Other Subjects
6 fluorodopa f 18; messenger RNA; parkin; diagnostic agent; dopamine; fluorodeoxyglucose f 18; ligase; messenger RNA; parkin; presynaptic receptor; ubiquitin protein ligase; anxiety; article; brain; Chinese; chromosome 6; circadian rhythm; depression; ethnology; exon; gene deletion; gene mutation; genetic analysis; genetic transcription; haplotype; human; molecular genetics; obsessive compulsive disorder; parkinsonism; positron emission tomography; priority journal; protein expression; protein function; sleep; adult; allele; Asian; caudate nucleus; chromosome deletion; computer assisted emission tomography; female; genetics; hemispheric dominance; male; mutation; Parkinson disease; pathophysiology; pedigree; physiology; putamen; scintiscanning; Taiwan; Adult; Alleles; Asian Continental Ancestry Group; Caudate Nucleus; Chromosome Deletion; Chromosomes, Human, Pair 6; Dominance, Cerebral; Dopamine; Female; Fluorodeoxyglucose F18; Haplotypes; Humans; Ligases; Male; Mutation; Parkinson Disease; Pedigree; Putamen; Receptors, Presynaptic; RNA, Messenger; Taiwan; Tomography, Emission-Computed; Ubiquitin-Protein Ligases
Type
journal article