Two Malian contributions to a better understanding of CMT in Africa

Africa is, relatively speaking, a kind of terra incognita for neuromuscular diseases in general and Charcot-Marie-Tooth disease (CMT) in particular. Researchers from Mali have recently published a review of the literature on the prevalence of the different forms of the disease on that continent, and another article focusing on CMTX alone. In the latter, transmission is X-linked dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère.. Although 400 mutations in the GJB1 gene encoding connexin 32 have been reported worldwide, none have been reported in sub-Saharan Africa until now:

• the authors of the study report clinical and genetic data from three large unrelated families totalling 15 individuals with CMTX1 ;
• three pathological variants of the GJB1 gene were identified (Val91Met, Arg15Trp and Phe235Cys) in this cohort;
• the authors note clinical and electrophysiological heterogeneity among the patients studied;
• one patient had severe sensorineural hearing loss and another had focal partial epilepsy.

GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali. Yalcouyé A, Diallo SH, Cissé L et al. J Peripher Nerv Syst. 2022 Apr 5.

 

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review. Yalcouyé A, Esoh K, Guida L, Wonkam A. J Peripher Nerv Syst. 2022 Apr 5.