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

Ekaterina Rogaeva, Janel Johnson, Anthony E. Lang, Cindy Gulick, Katrina Gwinn-Hardy, Toshitaka Kawarai, Christine Sato, Angharad Morgan, John S Werner, Robert Nussbaum, Agnes Petit, Michael S. Okun, Aideen McInerney, Ronald Mandel, Justus L. Groen, Hubert H. Fernandez, Ron Postuma, Kelly D. Foote, Shabnam Salehi-Rad, Yan LiangSharon Reimsnider, Anurag Tandon, John Hardy, Peter St George-Hyslop, Andrew B. Singleton

Research output: Contribution to journalArticlepeer-review

161 Scopus citations


Background: 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. Objective: To assess the prevalence of PINK1 mutations within a series of early- and late-onset Parkinson disease patients living in North America. Design: 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). Results: 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. Conclusion: Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.

Original languageEnglish (US)
Pages (from-to)1898-1904
Number of pages7
JournalArchives of Neurology
Issue number12
StatePublished - Dec 2004
Externally publishedYes

ASJC Scopus subject areas

  • Neuroscience(all)


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