Article

Ancestral origin of amyotrophic lateral sclerosis pathogenic variants in South Africa

2025-10-06

Abstract excerpt

Background and objectives Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with diverse genetic causes. While the C9orf72 hexanucleotide repeat expansion (HRE) and SOD1 variants are common in European and Asian populations respectively, their prevalence and ancestral origins in African populations remain underexplored. This study investigated the local ancestry of C9orf72 HRE and...

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Literature Corpus work: 20b2ddfa-46b7-538f-b7d5-5310f3b96ff8
DOI: 10.12688/wellcomeopenres.24788.1

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