1. A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss
- Author
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Lassana Cissé, Thomas Coulibaly, Alice B. Schindler, Seybou Hassane Diallo, Salimata Diallo, Salimata Diarra, Ke-lian Chen, C.O. Guinto, Kenneth H. Fischbeck, Guida Landouré, Abdoulaye Taméga, Assiatou Simaga, Craig Blackstone, and Koumba Bagayoko
- Subjects
0301 basic medicine ,business.industry ,General Neuroscience ,Sensory loss ,Disease ,Distal Muscle ,medicine.disease ,Bioinformatics ,Brief Communication ,DNA sequencing ,3. Good health ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Atrophy ,parasitic diseases ,medicine ,Spastic ,Missense mutation ,Neurology (clinical) ,Paraplegia ,business ,Brief Communications ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2017