title: Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism.
abstract: 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.
authors.affiliation: Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Ming-Jen
authors.initials: MJ
authors.lastname: Lee
authors.forename: Ignacio F
authors.initials: IF
authors.lastname: Mata
authors.forename: Chin-Hsien
authors.initials: CH
authors.lastname: Lin
authors.forename: Kai-Yuan
authors.initials: KY
authors.lastname: Tzen
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Lincoln
authors.forename: Rebecca
authors.initials: R
authors.lastname: Bounds
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Lockhart
authors.forename: Mary M
authors.initials: MM
authors.lastname: Hulihan
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: Ruey-Meei
authors.initials: RM
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D015331:Cohort Studies; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000208:ethnology* / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D013624:Taiwan / Q000453:epidemiology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult; D000099202:PTEN-Induced Putative Kinase
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D012333:RNA, Messenger; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein; C105131:PARK7 protein, human