title: A novel mutation inKIF5Ain a Malian family with spastic paraplegia and sensory loss.
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 inKIF5A(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.
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire du Point "G" Bamako Mali.
authors.forename: Cheick O
authors.initials: CO
authors.lastname: Guinto
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire du Point "G" Bamako Mali.
authors.forename: Salimata
authors.initials: S
authors.lastname: Diarra
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire de Gabriel Touré Bamako Mali.
authors.forename: Salimata
authors.initials: S
authors.lastname: Diallo
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire du Point "G" Bamako Mali.
authors.forename: Lassana
authors.initials: L
authors.lastname: Cissé
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire du Point "G" Bamako Mali.
authors.forename: Thomas
authors.initials: T
authors.lastname: Coulibaly
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire de Gabriel Touré Bamako Mali.
authors.forename: Seybou H
authors.initials: SH
authors.lastname: Diallo
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire du Point "G" Bamako Mali.
authors.forename: Abdoulaye
authors.initials: A
authors.lastname: Taméga
authors.affiliation: Neurogenetics Branch NINDS National Institutes of Health Bethesda Maryland.
authors.forename: Ke-Lian
authors.initials: KL
authors.lastname: Chen
authors.affiliation: Neurogenetics Branch NINDS National Institutes of Health Bethesda Maryland.
authors.forename: Alice B
authors.initials: AB
authors.lastname: Schindler
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire du Point "G" Bamako Mali.
authors.forename: Koumba
authors.initials: K
authors.lastname: Bagayoko
authors.affiliation: Institut d'Ophtalmologie Tropicale de l'Afrique Bamako Mali.
authors.forename: Assiatou
authors.initials: A
authors.lastname: Simaga
authors.affiliation: Neurogenetics Branch NINDS National Institutes of Health Bethesda Maryland.
authors.forename: Craig
authors.initials: C
authors.lastname: Blackstone
authors.affiliation: Neurogenetics Branch NINDS National Institutes of Health Bethesda Maryland.
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Fischbeck
authors.affiliation: Service de Neurologie Centre Hospitalier Universitaire du Point "G"Bamako Mali; Neurogenetics Branch NINDS National Institutes of Health Bethesda Maryland.
authors.forename: Guida
authors.initials: G
authors.lastname: Landouré