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

Details

Serval ID
serval:BIB_D6955859542C
Type
Article: article from journal or magazin.
Collection
Publications
Title
Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
Journal
Movement Disorders
Author(s)
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.
ISSN
1531-8257[electronic], 0885-3185[linking]
Publication state
Published
Issued date
2010
Volume
25
Number
13
Pages
2052-2058
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
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.G2019S-negative 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.
Pubmed
Create date
24/09/2010 17:44
Last modification date
20/08/2019 15:56
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