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, Yih Ru Wu

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)33-36
Number of pages4
JournalNeuroscience Letters
Volume394
Issue number1
DOIs
Publication statusPublished - 2006 Feb 6

Fingerprint

Parkinsonian Disorders
Taiwan
Mutation
Genes
Parkinson Disease
Northern Asia
Population Genetics
North America
Age of Onset
Ireland
Spain
Italy
Population
Exons
Costs and Cost Analysis

Keywords

  • Early onset
  • PINK1
  • Parkinson's disease

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. / Fung, Hon Chung; Chen, Chiung Mei; Hardy, John; Singleton, Andrew B.; Lee, Guey-Jen; Wu, Yih Ru.

In: Neuroscience Letters, Vol. 394, No. 1, 06.02.2006, p. 33-36.

Research output: Contribution to journalArticle

Fung, Hon Chung ; Chen, Chiung Mei ; Hardy, John ; Singleton, Andrew B. ; Lee, Guey-Jen ; Wu, Yih Ru. / Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. In: Neuroscience Letters. 2006 ; Vol. 394, No. 1. pp. 33-36.
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