Abstract：
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy characterised by a high clinical and genetic heterogeneity. While most cases were described in populations with Caucasian ancestry, genetic research on CMT in Africa is scant. Only a few cases of CMT have been reported, mainly from North Africa. The current study aimed to summarise available data on CMT in Africa, with emphasis on the epidemiological, clinical, and genetic features.
We searched PubMed, Scopus, Web of Sciences, and the African Journal Online for articles published from the database inception until April 2021 using specific keywords. A total of 398 articles were screened, and 28 fulfilled our selection criteria.
A total of 107 families totalling 185 patients were reported. Most studies were reported from North Africa (n = 22). The demyelinating form of CMT was the commonest subtype, and the phenotype varied greatly between families, and one family (1%) of CMT associated with hearing impairment was reported. The inheritance pattern was autosomal recessive in 91.2% (n = 97/107) of families. CMT-associated variants were reported in 11 genes: LMNA, GDAP1, GJB1, MPZ, MTMR13, MTMR2, PRX, FGD4/FRABIN, PMP22, SH3TC2, and GARS. The most common genes reported are LMNA, GDAP1, and SH3TC2 and have been found mostly in Northern African populations.
This study reveals that CMT is not rare in Africa, and describes the current clinical and genetic profile. The review emphasised the urgent need to invest in genetic research to inform counselling, prevention, and care for CMT in numerous settings on the continent.
We searched PubMed, Scopus, Web of Sciences, and the African Journal Online for articles published from the database inception until April 2021 using specific keywords. A total of 398 articles were screened, and 28 fulfilled our selection criteria.
A total of 107 families totalling 185 patients were reported. Most studies were reported from North Africa (n = 22). The demyelinating form of CMT was the commonest subtype, and the phenotype varied greatly between families, and one family (1%) of CMT associated with hearing impairment was reported. The inheritance pattern was autosomal recessive in 91.2% (n = 97/107) of families. CMT-associated variants were reported in 11 genes: LMNA, GDAP1, GJB1, MPZ, MTMR13, MTMR2, PRX, FGD4/FRABIN, PMP22, SH3TC2, and GARS. The most common genes reported are LMNA, GDAP1, and SH3TC2 and have been found mostly in Northern African populations.
This study reveals that CMT is not rare in Africa, and describes the current clinical and genetic profile. The review emphasised the urgent need to invest in genetic research to inform counselling, prevention, and care for CMT in numerous settings on the continent.
摘要：
Charcot-Marie-Tooth病（CMT）是最常见的遗传性周围神经病变，具有高度的临床和遗传异质性。虽然大多数病例是在高加索血统的人群中描述的，非洲CMT的遗传研究很少。仅报道了少数CMT病例，主要来自北非。本研究旨在总结非洲CMT的现有数据，强调流行病学，临床,和遗传特征。
我们搜索了PubMed,Scopus,WebofSciences,和非洲杂志在线，从数据库开始到2021年4月使用特定关键字发表的文章。共筛选398篇,28符合我们的选择标准。
共报告107个家庭，共185名患者。大多数研究来自北非（n=22）。CMT的脱髓鞘形式是最常见的亚型，家庭之间的表型差异很大，据报道，一个CMT家庭（1％）与听力障碍有关。在91.2％（n=97/107）的家庭中，遗传方式为常染色体隐性遗传。在11个基因中报道了CMT相关变异：LMNA，GDAP1、GJB1、MPZ、MTMR13,MTMR2,PRX,FGD4/FRABIN,PMP22、SH3TC2和GARS。报道的最常见的基因是LMNA，GDAP1和SH3TC2主要在北非人群中发现。
这项研究表明，CMT在非洲并不罕见，并描述了目前的临床和遗传概况。审查强调迫切需要投资于基因研究，以提供咨询，预防,并在非洲大陆的众多环境中照顾CMT。
我们搜索了PubMed,Scopus,WebofSciences,和非洲杂志在线，从数据库开始到2021年4月使用特定关键字发表的文章。共筛选398篇,28符合我们的选择标准。
共报告107个家庭，共185名患者。大多数研究来自北非（n=22）。CMT的脱髓鞘形式是最常见的亚型，家庭之间的表型差异很大，据报道，一个CMT家庭（1％）与听力障碍有关。在91.2％（n=97/107）的家庭中，遗传方式为常染色体隐性遗传。在11个基因中报道了CMT相关变异：LMNA，GDAP1、GJB1、MPZ、MTMR13,MTMR2,PRX,FGD4/FRABIN,PMP22、SH3TC2和GARS。报道的最常见的基因是LMNA，GDAP1和SH3TC2主要在北非人群中发现。
这项研究表明，CMT在非洲并不罕见，并描述了目前的临床和遗传概况。审查强调迫切需要投资于基因研究，以提供咨询，预防,并在非洲大陆的众多环境中照顾CMT。
