- •143 South Africans with ALS underwent C9orf72 repeat expansion genotyping.
- •Familial ALS was uncommon (2%) and these cases had normal C9orf72 alleles.
- •C9-expansions (>30 repeats) were found in 7% of cases with sporadic ALS.
- •C9-expansions were not found in 24 black Africans with ALS.
Abbreviations:ALS (Amyotrophic lateral sclerosis), FTD (Fronto-temporal dementia), SA (South Africa(n)), PLS (Primary lateral sclerosis), PMA (Progressive muscular atrophy), FA (Flail arm), M/A (Mixed-African), RP-PCR (Repeat primed polymerase chain reaction), ANOVA (Analysis of variance), US (United States), HD (Huntington's disease)
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