Background Charcot‐Marie‐Tooth (CMT) disease is a very heterogeneous neurological condition with more than 90 reported genetic entities. It is the most common inherited peripheral neuropathy; however, cases are rarely reported in sub‐Saharan Africa. In addition, only few families, mostly of Caucasian ancestry, have been reported to have Charcot‐Marie‐Tooth disease type 2D (CMT2D) mutations. To date no case of CMT2D was reported in Africa. We present here a consanguineous family with CMT phenotype in which a novel mutation in the GARS (glycyl‐tRNA synthetase) gene was identified. Methods Patients were examined thoroughly and nerve conduction studies (NCS) were performed. DNA from the proband was used for CMT gene panel testing (including 50 genes, PMP22 duplication and mtDNA ). Putative mutations were verified in all available family members to check for segregation. Results Two individuals, a male and a female, were found to be affected. Symptoms started in their teenage years with muscle weakness and atrophy in hands. Later, distal involvement of the lower limbs was noticed. Patients complained of minor sensory impairment. NCS showed no response in the upper as well as the lower limbs. Genetic testing surprisingly identified a novel heterozygous missense mutation c.794C>A (p.Ser265Tyr) in the GARS gene associated with CMT2D. This variant segregated with the disease in the family and was also seen in the mother who presented no symptoms. Conclusion This is the first report of a genetically confirmed CMT2D case in Africa, expanding its genetic epidemiology. Increasing access to genetic testing may reveal more novel CMT variants or genes in the African population that could be relevant to other populations and further our understanding of their mechanism.

Résumé -Introduction : Les manifestations buccales de l'infection à VIH sont fréquentes et variées. Elles constituent souvent les premières manifestations cliniques de l'infection à VIH. Objectifs : Les objectifs étaient de déterminer la prévalence des affections buccales, les habitudes d'hygiène bucco-dentaires et de dégager les caractéristiques épidémiocliniques de ces affections chez les PVVIH. Méthodologie : Il s'agissait d'une étude prospective, transversale et descriptive basée sur l'observation des lésions bucco-dentaires chez les PVVIH/sida. Résultats : Sur un total de 72 patients, le sexe féminin était majoritaire (66,7 %) et l'âge moyen était de 40 ans. Le type 1 du VIH a été le plus représenté (97,2 %). L'indice de plaque moyen était compris entre 0,1-0,9 (68,1 %), égale à 0 (22,2 %). Près de 80 % des patients avaient un taux de CD4 en dessous de 500 cellules/mm 3 et 86 % des patients étaient sous antirétroviraux. L'indice CAO/D était de 10,17. La fréquence des affections bucco-dentaires était de 87,5 %. Les lésions de la muqueuse buccale étaient majoritaires (71 %), et dominées par les candidoses (52,8 %). Conclusion : Les affections bucco-dentaires sont fréquentes chez les PVVIH/SIDA. La prise en charge médicale des PVVIH/SIDA doit intégrer l'examen systématique de la cavité buccale. Abstract -Oral manifestations associated with HIV infection in the Infectious

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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.

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