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

• Published in: Annals of clinical and translational neurology Vol. 4; no. 4; pp. 272 - 275
• Main Authors: Guinto, Cheick O., Diarra, Salimata, Diallo, Salimata, Cissé, Lassana, Coulibaly, Thomas, Diallo, Seybou H., Taméga, Abdoulaye, Chen, Ke‐Lian, Schindler, Alice B., Bagayoko, Koumba, Simaga, Assiatou, Blackstone, Craig, Fischbeck, Kenneth H., Landouré, Guida
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.04.2017; John Wiley and Sons Inc
• Subjects: Age; Amino acids; Ataxia; Atrophy; Brief Communication; Brief Communications; Deoxyribonucleic acid; DNA; Genes; Mutation; Paralysis; Patients; Population; Spasticity; Walking; Middle East; Atlanta Georgia; Mali; Asia; United States > US; West Africa; Europe; Africa; North Africa; North America
• ISSN: 2328-9503; 2328-9503
• DOI: 10.1002/acn3.402

Hereditary spastic paraplegias (HSPs) 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 KIF5A (c.1086G>C, p.Lys362Asn) that segregated with the disease (SPG10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSPs are present in sub‐Saharan Africa, although likely underdiagnosed. Increasing efficiency and decreasing costs of DNA sequencing will make it more feasible to diagnose HSPs in developing countries.