Document details

Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3

Author(s): Okubadejo, Njideka ; Britton, Angela ; Crews, Cynthia ; Akinyemi, Rufus ; Hardy, John ; Singleton, Andrew ; Brás, José

Date: 2008

Persistent ID: https://hdl.handle.net/10316/110856

Origin: Estudo Geral - Universidade de Coimbra

Subject(s): Adult; Aged; Ataxin-3; Case-Control Studies; Cohort Studies; DNA Mutational Analysis; Female; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; Male; Middle Aged; Nerve Tissue Proteins; Nigeria; Nuclear Proteins; Parkinson Disease; Protein Serine-Threonine Kinases; Repressor Proteins; Ubiquitin-Protein Ligases; Mutation


Description

Several genetic variations have been associated with Parkinson disease in different populations over the past few years. Although a considerable number of worldwide populations have been screened for these variants, results from Sub-Saharan populations are very scarce in the literature. In the present report we have screened a cohort of Parkinson disease patients (n = 57) and healthy controls (n = 51) from Nigeria for mutations in the genes PRKN, LRRK2 and ATXN3. No pathogenic mutations were found in any of the genes. Hence, common pathogenic mutations in these genes, observed in several different populations, are not a frequent cause of Parkinson disease in Nigeria.

Document Type Journal article
Language English
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