Modibo Sangaré

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We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also(More)
OBJECTIVE Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. SMA carriers have only 1 copy of SMN1 and are relatively(More)
We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome(More)
As genetic advances become incorporated into health care delivery, disparities between developing and developed countries may become greater. By addressing genetic health care needs and specific differences of developing countries, these disparities may be mitigated. We sought to describe the attitudes and knowledge of subjects with hereditary neurological(More)
We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel homozygous single-nucleotide variant in the NHLRC1 gene, c.560A>C, producing the missense change H187P. The(More)
Ataxia telangiectasia (A-T) is a rare, autosomal recessive disorder of childhood characterized by progressive cerebellar ataxia, telangiectasia, and immune defects, and is caused by mutations in the ataxia-telangiectasia mutated (ATM) gene [1]. The incidence of the disease is about 1 in 40,000 to 100,000 births [2]. A-T has been reported worldwide [3], but(More)
Youssoufa Maiga1*, Zakaria Mamadou1, Modibo Sangare2, Martin Sanou3, Salimata Diallo1, Seybou H Diallo1, Massama Camara1, Oumar Sidibe1, Youssouf Sogoba4, Hamar A Traore5 and Julien Nizard6 1Service de Neurologie, CHU Gabriel Touré, Bamako, Mali. 2Faculté de Médecine et d’odontostomatologie, USTTB, Bamako, Mali. 3UFR odontologie, Université de Nantes, Mali(More)
After seven annual rounds of mass drug administration (MDA) in six Malian villages highly endemic for Wuchereria bancrofti (overall prevalence rate of 42.7%), treatment was discontinued in 2008. Surveillance was performed over the ensuing 5 years to detect recrudescence. Circulating filarial antigen (CFA) was measured using immunochromatographic card tests(More)
AbstractCrimean-Congo hemorrhagic fever is a tick-borne disease caused by the arbovirus Crimean-Congo hemorrhagic fever virus (CCHFV, family Bunyaviridae, genus Nairovirus). CCHFV can cause a severe hemorrhagic fever with high-case fatality rates in humans. CCHFV has a wide geographic range and has been described in around 30 countries in the Middle East,(More)
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