Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
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DOI：
10.1111/jns.12489
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发表时间：
2022-06
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Charcot玛丽-图思病（CMT）是最常见的遗传性周围神经病，其特征是高度的临床和遗传异质性。虽然大多数病例都是在高加索血统的人群中描述的，但非洲对CMT的遗传研究很少。仅报告了少数CMT病例，主要来自北非。目前的研究旨在总结非洲CMT的可用数据，重点是流行病学，临床和遗传特征。我们使用特定的关键词搜索了PubMed，Scopus，Web of Sciences和African Journal Online，以查找从数据库成立到2021年4月发表的文章。共筛选了398篇文章，其中28篇符合我们的选择标准。共报告了107个家庭，共计185例患者。大多数研究报告来自北非（n = 22）。脱髓鞘型CMT是最常见的亚型，各家系间的表型差异很大，有1个家系（1%）与听力障碍有关。91.2%（n = 97/107）的家系为常染色体隐性遗传。在11个基因中报告了CMT相关变体：LMNA、GDAP 1、GJB 1、MPZ、MTMR 13、MTMR 2、PRX、FGD 4/FRABIN、PMP 22、SH 3 TC 2和加尔斯。最常见的基因是LMNA，GDAP 1和SH 3 TC 2，主要在北方非洲人群中发现。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。该审查强调迫切需要投资于遗传研究，以在非洲大陆的许多环境中为CMT提供咨询，预防和护理。
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.
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