A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Authors: Guinto, Cheick O.; Diarra, Salimata; Diallo, Salimata; Cisse, Lassana; Coulibaly, Thomas; Diallo, Seybou H.; Tamega, Abdoulaye; Chen, Ke-Lian; Schindler, Alice B.; Bagayoko, Koumba; Simaga, Assiatou; Blackstone, Craig; Fischbeck, Kenneth H.; Landoure, Guida
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.
Wide phenotypic spectrum of axonal peripheral neuropathy patients with KIF5A mutations
JOURNAL OF THE NEUROLOGICAL SCIENCES
Authors: Nam, D. E.; Woo, J. H.; Kim, M. J.; Shin, S. Y.; Choi, B. O.; Chung, K. W.
Abstract
COA
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