Novel PINK1 mutations in early-onset Parkinsonism

ArticleinAnnals of Neurology 56(3):424-7 · September 2004with8 Reads
Impact Factor: 9.98 · DOI: 10.1002/ana.20251 · Source: PubMed

    Abstract

    PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.