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

doi:10.1002/mds.23283

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

Neuroscience

Research output: Contribution to journal › Article › peer-review

13 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 language	English (US)
Pages (from-to)	2052-2058
Number of pages	7
Journal	Movement Disorders
Volume	25
Issue number	13
DOIs	https://doi.org/10.1002/mds.23283
State	Published - 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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10.1002/mds.23283

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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

Jasinska-Myga, B, Kachergus, J, Vilariño-Güell, C, Wider, C, Soto-Ortolaza, AI, Kefi, M, Middleton, LT, Ishihara-Paul, L, Gibson, RA, Amouri, R, Yahmed, SB, Sassi, SB, Zouari, M, El Euch, G, Ross, OA, Hentati, F & Farrer, MJ 2010, 'Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa', Movement Disorders, vol. 25, no. 13, pp. 2052-2058. https://doi.org/10.1002/mds.23283

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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.",

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AU - Wider, Christian

AU - Soto-Ortolaza, Alexandra I.

AU - Kefi, Mounir

AU - Middleton, Lefkos T.

AU - Ishihara-Paul, Lianna

AU - Gibson, Rachel A.

AU - Amouri, Rim

AU - Yahmed, Samia Ben

AU - Sassi, Samia Ben

AU - Zouari, Mourad

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AU - Ross, Owen A.

AU - Hentati, Faycal

AU - Farrer, Matthew J.

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AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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