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

Détails

ID Serval
serval:BIB_D6955859542C
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
Périodique
Movement Disorders
Auteur⸱e⸱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]
Statut éditorial
Publié
Date de publication
2010
Volume
25
Numéro
13
Pages
2052-2058
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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
Création de la notice
24/09/2010 18:44
Dernière modification de la notice
20/08/2019 16:56
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