Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

Owen A. Ross, Cleanthe Spanaki, Alida Griffith, Chin Hsien Lin, Jennifer Kachergus, Kristoffer Haugarvoll, Helen Latsoudis, Andreas Plaitakis, Joaquim J. Ferreira, Cristina Sampaio, Vincenzo Bonifati, Ruey Meei Wu, Cyrus P. Zabetian, Matthew J. Farrer

Research output: Contribution to journalArticle

30 Scopus citations

Abstract

The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution.

Original languageEnglish (US)
Pages (from-to)466-467
Number of pages2
JournalParkinsonism and Related Disorders
Volume15
Issue number6
DOIs
StatePublished - Jul 1 2009

Keywords

  • Leucine-rich repeat kinase 2
  • Parkinson's disease
  • R1441H

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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    Ross, O. A., Spanaki, C., Griffith, A., Lin, C. H., Kachergus, J., Haugarvoll, K., Latsoudis, H., Plaitakis, A., Ferreira, J. J., Sampaio, C., Bonifati, V., Wu, R. M., Zabetian, C. P., & Farrer, M. J. (2009). Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. Parkinsonism and Related Disorders, 15(6), 466-467. https://doi.org/10.1016/j.parkreldis.2008.09.001