title: Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
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.
authors: Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
authors: Barbara
authors: B
authors: Jasinska-Myga
authors: Jennifer
authors: J
authors: Kachergus
authors: Carles
authors: C
authors: Vilariño-Güell
authors: Christian
authors: C
authors: Wider
authors: Alexandra I
authors: AI
authors: Soto-Ortolaza
authors: Mounir
authors: M
authors: Kefi
authors: Lefkos T
authors: LT
authors: Middleton
authors: Lianna
authors: L
authors: Ishihara-Paul
authors: Rachel A
authors: RA
authors: Gibson
authors: Rim
authors: R
authors: Amouri
authors: Samia Ben
authors: SB
authors: Yahmed
authors: Samia Ben
authors: SB
authors: Sassi
authors: Mourad
authors: M
authors: Zouari
authors: Ghada
authors: G
authors: El Euch
authors: Owen A
authors: OA
authors: Ross
authors: Faycal
authors: F
authors: Hentati
authors: Matthew J
authors: MJ
authors: Farrer
mesh_terms: D000328:Adult; D000352:Africa, Northern / Q000208:ethnology; D000368:Aged; D000369:Aged, 80 and over; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases