Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
Copyright policy )Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
AbstractWe 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
- National Taiwan University of Arts Taiwan
- National Taiwan University Hospital Taiwan
- Murdoch Children's Research Institute Australia
- Mayo Clinic United States
Adult, Male, Oncogene Proteins, China, Adolescent, Genotype, Intracellular Signaling Peptides and Proteins, Mutation, Missense, Genes, Recessive, Exons, Middle Aged, Cohort Studies, Phenotype, Amino Acid Substitution, Asian People, Gene Frequency, Parkinsonian Disorders, Humans, Female, Age of Onset
Adult, Male, Oncogene Proteins, China, Adolescent, Genotype, Intracellular Signaling Peptides and Proteins, Mutation, Missense, Genes, Recessive, Exons, Middle Aged, Cohort Studies, Phenotype, Amino Acid Substitution, Asian People, Gene Frequency, Parkinsonian Disorders, Humans, Female, Age of Onset
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