PINK1 (PARK6) associated Parkinson disease in Ireland

D. G. Healy, P. M. Abou-Sleiman, J. M. Gibson, O. A. Ross, S. Jain, S. Gandhi, D. Gosal, M. M.K. Muqit, N. W. Wood, T. Lynch

Research output: Contribution to journalArticle

83 Scopus citations

Abstract

Mutations in the PINK1 gene have recently been shown to cause autosomal recessive Parkinson disease (PD). The authors assessed the prevalence of PINK1 gene mutations in 290 well-characterized early- and late-onset PD patients from Ireland. In a 51-year-old PD patient with a family history of PD, the authors identified a novel heterozygous mutation (R147H) in exon 2 of the PINK1 gene. Overall, these data indicate that PINK1 mutations are a rare cause of PD in Ireland.

Original languageEnglish (US)
Pages (from-to)1486-1488
Number of pages3
JournalNeurology
Volume63
Issue number8
DOIs
StatePublished - Oct 26 2004

ASJC Scopus subject areas

  • Clinical Neurology

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  • Cite this

    Healy, D. G., Abou-Sleiman, P. M., Gibson, J. M., Ross, O. A., Jain, S., Gandhi, S., Gosal, D., Muqit, M. M. K., Wood, N. W., & Lynch, T. (2004). PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology, 63(8), 1486-1488. https://doi.org/10.1212/01.WNL.0000142089.38301.8E