C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis

The hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic variant found in individuals with sporadic amyotrophic lateral sclerosis (ALS), occurring at a frequency of between 7 and 11% in cohorts of European ancestry. While limited data suggest that C9-expansions (>30 repeats) are less frequent in African-Americans with ALS, there is no data on the frequency of C9-expansions among ALS subjects residing in Africa. We therefore investigated the frequency of this expansion mutation (using repeat-primed PCR) in a cohort of 143 South Africans (SA) with ALS.

Source: Journal of the Neurological Sciences - April 15, 2019 Category: Neurology Authors: Melissa Nel, Gloudi M. Agenbag, Franclo Henning, Helen M. Cross, Alina Esterhuizen, Jeannine M. Heckmann Source Type: research