Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan

Hon Chung Fung, Chiung Mei Chen, John Hardy, Andrew B. Singleton, Guey Jen Lee-Chen, Yih Ru Wu*

*此作品的通信作者

研究成果: 雜誌貢獻期刊論文同行評審

30 引文 斯高帕斯(Scopus)

摘要

Mutations in the PINK1 gene have been shown to cause autosomal recessive Parkinson's disease (PD) and/or early onset sporadic PD in Italy, Spain, North America, Ireland, and Asia. However, there are limited data on PINK1 mutations in sporadic early onset Asian PD patients. To determine the prevalence of PINK1 mutation in Taiwanese population, we conducted genetic analysis of PINK1 mutation in 73 early onset sporadic PD and 94 normal control subjects. We only identified a novel single heterozygous mutation R 407Q mutation in exon 6 of this gene in one patient at the age onset of 54. Overall, these data indicate that PINK1 mutations are rare in our population. Based on our results, unless common mutational hotspots are identified, routine testing for this mutation at least in our population may not be cost-effective.

原文英語
頁(從 - 到)33-36
頁數4
期刊Neuroscience Letters
394
發行號1
DOIs
出版狀態已發佈 - 2006 二月 6

ASJC Scopus subject areas

  • 神經科學 (全部)

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