Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD

David Gosal, Owen A. Ross, Joe Wiley, G. Brent Irvine, Janet A. Johnston, Mathias Toft, Ignacio F. Mata, Jennifer Kachergus, Mary Hulihan, Julie P. Taylor, Sarah J. Lincoln, Matthew J. Farrer, Timothy Lynch, J. Mark Gibson

Research output: Contribution to journalArticle

27 Scopus citations

Abstract

The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative in familial forms of the disorder. A number of pathogenic mutations have been identified in the latest gene LRRK2, with a Gly2019Ser amino acid substitution identified in two siblings and one patient with idiopathic Parkinson's disease from Ireland. The clinical features resemble the idiopathic variant with a tremor predominant clinical picture shared by the siblings, slow progression of symptoms, and no observation of cognitive disturbance in all. The family and the sporadic individual were apparently not related and originated from different regions of Ireland, although haplotype analysis does suggest they share a common founder. The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease.

Original languageEnglish (US)
Pages (from-to)349-352
Number of pages4
JournalParkinsonism and Related Disorders
Volume11
Issue number6
DOIs
StatePublished - Sep 2005

Keywords

  • G2019S and Parkinson's disease
  • LRRK2

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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    Gosal, D., Ross, O. A., Wiley, J., Irvine, G. B., Johnston, J. A., Toft, M., Mata, I. F., Kachergus, J., Hulihan, M., Taylor, J. P., Lincoln, S. J., Farrer, M. J., Lynch, T., & Gibson, J. M. (2005). Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD. Parkinsonism and Related Disorders, 11(6), 349-352. https://doi.org/10.1016/j.parkreldis.2005.05.004