Article
An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.
Annals of human genetics - 1 Jul 2025
Muthinja Mendi J, Guelngar Carlos Othon, Fall Maouly, Jama Fatumah, Shuja Huda Aldeen, Nambafu Jamila, Massi Daniel Gams, Ojo Oluwadamilola O, Okubadejo Njideka U, Taiwo Funmilola Tolulope, Diop Alassane Mamadou, de Chacus Coudjou J D G, Cissé Fodé Abass, Cissé Amara, Hooker Juzar, Sokhi Dilraj, Houlden Henry, Rizig Mie
Abstract excerpt
BACKGROUND: Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans. OBJECTIVE: We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a...
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