Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

Barbara Jasinska-Myga, Jennifer Kachergus, Carles Vilariño-Güell, Christian Wider, Alexandra I. Soto-Ortolaza, Mounir Kefi, Lefkos T. Middleton, Lianna Ishihara-Paul, Rachel A. Gibson, Rim Amouri, Samia Ben Yahmed, Samia Ben Sassi, Mourad Zouari, Ghada El Euch, Owen A. Ross, Faycal Hentati, Matthew J. Farrer

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019Snegative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.

Original languageEnglish (US)
Pages (from-to)2052-2058
Number of pages7
JournalMovement Disorders
Volume25
Issue number13
DOIs
StatePublished - Oct 15 2010

Keywords

  • Arab-Berbers
  • Familial Parkinson's disease
  • Genetics
  • LRRK2
  • Parkinson's disease
  • Sequencing

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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  • Cite this

    Jasinska-Myga, B., Kachergus, J., Vilariño-Güell, C., Wider, C., Soto-Ortolaza, A. I., Kefi, M., Middleton, L. T., Ishihara-Paul, L., Gibson, R. A., Amouri, R., Yahmed, S. B., Sassi, S. B., Zouari, M., El Euch, G., Ross, O. A., Hentati, F., & Farrer, M. J. (2010). Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa. Movement Disorders, 25(13), 2052-2058. https://doi.org/10.1002/mds.23283