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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Glucocerebrosidase mutations are not a common risk factor for parkinson disease in North Africa
Neuroscience Letters, Volume 477, No. 2, Year 2010
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Description
Mutations in the glucocerebrosidase gene (GBA) have recently been associated with an increased risk of Parkinson disease (PD). GBA mutations have been observed to be particularly prevalent in the Ashkenazi Jewish population. Interestingly, this population also has a high incidence of the Lrrk2 p.G2019S mutation which is similar in North African Arab-Berber populations. Herein, our sequencing of the GBA gene, in 33 North African Arab-Berber familial parkinsonism probands, identified two novel mutations in three individuals (p.K-26R and p.K186R). Segregation analysis of these two variants did not support a pathogenic role. Genotyping of p.K-26R, p.K186R and the common p.N370S in an ethnically matched series consisting of 395 patients with PD and 372 control subjects did not show a statistically significant association (P>0.05). The p.N370S mutation was only identified in 1 sporadic patient with PD and 3 control subjects indicating that the frequency of this mutation in the North African Arab-Berber population is much lower than that observed in Ashkenazi Jews, and therefore arose in the latter after expansion of the Lrrk2 p.G2019S variant in North Africa. © 2009 Elsevier Ireland Ltd.
Authors & Co-Authors
Nishioka, Kenya
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Vilarino-Guell, Carles
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Cobb, Stephanie A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Kachergus, Jennifer M.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Ross, Owen A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Wider, Christian
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Gibson, Rachel A.
United Kingdom, Brentford
Glaxosmithkline Plc.
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Farrer, Matthew J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Statistics
Citations: 26
Authors: 9
Affiliations: 3
Identifiers
Doi:
10.1016/j.neulet.2009.11.066
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study
Cohort Study
Study Locations
Multi-countries