https://scholars.lib.ntu.edu.tw/handle/123456789/463710
標題: | Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism | 作者: | MING-JEN LEE Mata I.F. CHIN-HSIEN LIN KAI-YUAN TZEN Lincoln S.J. Bounds R. Lockhart P.J. Hulihan M.M. Farrer M.J. RUEY-MEEI WU |
公開日期: | 2009 | 卷: | 24 | 期: | 1 | 起(迄)頁: | 104-108 | 來源出版物: | Movement Disorders | 摘要: | We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ-1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese-Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy. ? 2008 Movement Disorder Society. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/463710 | ISSN: | 0885-3185 | DOI: | 10.1002/mds.22093 | SDG/關鍵字: | DJ 1 protein; levodopa; parkin; phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase induced protein kinase 1; protein kinase; unclassified drug; adult; amino acid substitution; article; Asian; Caucasian; Chinese; controlled study; female; gene frequency; gene mutation; genetic analysis; genotype phenotype correlation; heterozygosity; human; major clinical study; male; parkinsonism; polymerase chain reaction; priority journal; race difference; recessive gene; Taiwan; Adolescent; Adult; Age of Onset; Amino Acid Substitution; Asian Continental Ancestry Group; China; Cohort Studies; Exons; Female; Gene Frequency; Genes, Recessive; Genotype; Humans; Intracellular Signaling Peptides and Proteins; Male; Middle Aged; Mutation, Missense; Oncogene Proteins; Parkinsonian Disorders; Phenotype; Polymerase Chain Reaction; Protein Kinases; RNA, Messenger; Taiwan; Ubiquitin-Protein Ligases; Young Adult |
顯示於: | 醫學系 |
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