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Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

Research paper by Ekaterina E Rogaeva, Janel J Johnson, Anthony E AE Lang, Cindy C Gulick, Katrina K Gwinn-Hardy, Toshitaka T Kawarai, Christine C Sato, Angharad A Morgan, John J Werner, Robert R Nussbaum, Agnes A Petit, Michael S MS Okun, Aideen A McInerney, Ronald R Mandel, Justus L JL Groen, et al.

Indexed on: 15 Dec '04Published on: 15 Dec '04Published in: Archives of neurology



Abstract

Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease.To assess the prevalence of PINK1 mutations within a series of early- and late-onset Parkinson disease patients living in North America.All coding exons of the PINK1 gene were sequenced in a series of 289 Parkinson disease patients and 80 neurologically normal control subjects; the mutation frequencies were evaluated in additional controls (100 white and 50 Filipino subjects).We identified 27 variants, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-onset Parkinson disease patients.Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.