Landouré Guida, Yalcouyé Abdoulaye, Diarra Salimata, Maiga Alassane Dit Baneye, Dembélé Mohamed E, Cissé Cheick A K, Bocoum Abdoulaye, Cissé Lassana, Bamba Salia, Samassékou Oumar, Fischbeck Kenneth H, Burnett Barrington G
Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
Service de Neurologie, Centre Hospitalier Universitaire du Point G, Bamako, Mali.
Nat Rev Neurol. 2025 May 23. doi: 10.1038/s41582-025-01098-3.
Hereditary neurological diseases (HNDs), referring to monogenic forms of neurological diseases, can cause substantial debilitation in affected individuals. They particularly impact developing nations, where the burden of disease is reflected in a high number of disability-adjusted life years lost. In African populations, despite rich genetic diversity, high fertility rates and prevalent consanguinity, genetic research remains under-explored. However, studying these communities holds the promise of uncovering key genes and variants that are essential for understanding both normal and abnormal nervous system functions. The rise of advanced sequencing technologies has enabled the identification of the causative factors underlying numerous hereditary diseases. Yet, many people with HNDs, especially in under-studied African populations, still lack a molecular diagnosis. Initiatives such as H3Africa, backed by the US National Institutes of Health, the Wellcome Trust and the Alliance for Accelerating Excellence in Science in Africa, are helping to bridge this gap by empowering African scientists to lead groundbreaking genetic research. This Review highlights the spectrum of HNDs observed in African populations and explores the unique challenges and opportunities in this field. By reflecting on the current state of neurogenetics in Africa and outlining future directions, we aim to inspire progress towards improved health care for those affected by HNDs on the continent.
遗传性神经疾病（HNDs），指的是神经疾病的单基因形式，可导致受影响个体出现严重的身体衰弱。它们对发展中国家影响尤甚，这些国家的疾病负担体现在大量的残疾调整生命年损失上。在非洲人群中，尽管遗传多样性丰富、生育率高且近亲通婚普遍，但基因研究仍未得到充分探索。然而，对这些群体的研究有望揭示对于理解正常和异常神经系统功能都至关重要的关键基因和变异。先进测序技术的兴起使得能够识别众多遗传性疾病的致病因素。然而，许多患有HNDs的人，尤其是在研究较少的非洲人群中，仍然缺乏分子诊断。由美国国立卫生研究院、惠康信托基金会和非洲加速科学卓越联盟支持的“非洲人类遗传与健康”（H3Africa）等倡议，通过赋予非洲科学家主导开创性基因研究的权力，正有助于弥合这一差距。本综述重点介绍了在非洲人群中观察到的HNDs谱系，并探讨了该领域独特的挑战和机遇。通过反思非洲神经遗传学的现状并概述未来方向，我们旨在激励在改善该大陆受HNDs影响人群的医疗保健方面取得进展。
