A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

Abstract

Hereditary spastic paraplegias ( HSP s) are well‐characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF 5A (c.1086G>C, p.Lys362Asn) that segregated with the disease ( SPG 10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSP s are present in sub‐Saharan Africa, although likely underdiagnosed. Increasing efficiency and decreasing costs of DNA sequencing will make it more feasible to diagnose HSP s in developing countries.