SynthesisJournal of the peripheral nervous system : JPNS2022
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Synthesis in Journal of the peripheral nervous system : JPNS, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- A meta-analysis on the prevalence of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies.Journal of neurology · 2023Pooled it
- Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.Journal of the peripheral nervous system : JPNS · 2022Pooled it
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.Human mutation · 2026Article
- Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.Brain : a journal of neurology · 2025Article
- Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.Iranian journal of public health · 2025Review
- Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.European journal of neurology · 2025Observational
- Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.Nature reviews. Neurology · 2025Review
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.Neurobiology of disease · 2024Article
- Ethnicity-related differences in mitochondrial regulation by insulin stimulation in diabetes.Journal of cellular physiology · 2024Review
- Bilateral hearing impairment as an early symptom in a patient with Charcot-Marie-Tooth Type 1: the first case report from Syria.Annals of medicine and surgery (2012) · 2024Article
- A case for genomic medicine in South African paediatric patients with neuromuscular disease.Frontiers in pediatrics · 2022Article
- Updated demographics categories to capture the true diversity of an international registry of rare disease patients.Therapeutic advances in rare diseaseArticle
- Genetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study.Journal of neuromuscular diseasesArticle
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
Abstract
BACKGROUND AND
aimsCharcot-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.
methodsWe 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.
resultsA 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.
interpretationThis 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.