ArticleFrontiers in neurology2023
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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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
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- NovelNeurology. Genetics · 2026Article
- Genetic landscape of hereditary spastic paraplegias in the Korean population.Scientific reports · 2026Article
- Biogenesis and reformation of synaptic vesicles.The Journal of physiology · 2025Review
- Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.Nature reviews. Neurology · 2025Review
- Article
- Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations.Journal of movement disorders · 2025Article
- Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials.Pharmaceutical medicine · 2024Review
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
Introduction: Limited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes underlying genetic neuropathy (GN) and spastic ataxias in Europeans. In this study, we used next-generation sequencing to screen 61 probands with GN, hereditary spastic paraplegia (HSP), and spastic ataxias for a genetic diagnosis. Methods: After identifying four GN probands with Results: Of 32 GN probands, 50% had African-genetic ancestry, and 44% were solved: Discussion: In this preliminary cohort screening panel of disease genes using WES/WGS data, we solved ~50% of cases, which is similar to diagnostic yields reported for global cohorts. However, the mutational profile among South Africans with GN and HSP differs substantially from that in the Global North.
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