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Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism by Ming‐Jen Lee; Ignacio F. Mata; Chin‐Hsien Lin; Kai‐Yuan Tzen; Sarah J. Lincoln; Rebecca Bounds; Paul J. Lockhart; Mary M. Hulihan; Matthew J. Farrer; Ruey‐Meei Wu is a Medicine article available to read on EtoBox.
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## 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. © 2008 Movement Disorder Society
Who reads Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism?
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- Author
- Ming‐Jen Lee; Ignacio F. Mata; Chin‐Hsien Lin; Kai‐Yuan Tzen; Sarah J. Lincoln; Rebecca Bounds; Paul J. Lockhart; Mary M. Hulihan; Matthew J. Farrer; Ruey‐Meei Wu
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0885-3185)
- Published
- 2009
- Language
- EN
- Field
- Medicine (Health Sciences)