https://scholars.lib.ntu.edu.tw/handle/123456789/463736
標題: | Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations | 作者: | RUEY-MEEI WU Shan D.-E. Sun C.-M. Liu R.-S. WUH-LIANG HWU CHUN-HWEI TAI Hussey J. West A. Gwinn-Hardy K. Hardy J. Chen J. Farrer M. Lincoln S. |
公開日期: | 2002 | 卷: | 17 | 期: | 4 | 起(迄)頁: | 670-675 | 來源出版物: | Movement Disorders | 摘要: | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/463736 | ISSN: | 0885-3185 | DOI: | 10.1002/mds.10184 | SDG/關鍵字: | 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 |
顯示於: | 醫學系 |
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