Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism

MING-JEN LEEMata I.F.CHIN-HSIEN LINKAI-YUAN TZENLincoln S.J.Bounds R.Lockhart P.J.Hulihan M.M.Farrer M.J.RUEY-MEEI WU2020-02-252020-02-2520090885-3185https://scholars.lib.ntu.edu.tw/handle/123456789/463710We 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.[SDGs]SDG3DJ 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 AdultGenotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonismjournal article10.1002/mds.22093190062242-s2.0-61449115021