World Health Organization. Neurological Disorders: Public Health Challenges https://www.who.int/publications/i/item/9789241563369 (WHO, 2006).

UN News. Nearly 1 in 6 of world’s population suffer from neurological disorders – UN report. United Nations https://news.un.org/en/story/2007/02/210312 (2007).

Simpkin, V., Namubiru-Mwaura, E., Clarke, L. & Mossialos, E. Investing in health R&D: where we are, what limits us, and how to make progress in Africa. BMJ Glob. Health 4, e001047 (2019).

Article  PubMed  PubMed Central  Google Scholar 

Akinyemi, R. O. et al. Neurogenomics in Africa: perspectives, progress, possibilities and priorities. J. Neurol. Sci. 366, 213–223 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Campbell, M. C. & Tishkoff, S. A. African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu. Rev. Genomics Hum. Genet. 9, 403–433 (2008).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fortes-Lima, C. A. et al. The genetic legacy of the expansion of Bantu-speaking peoples in Africa. Nature 625, 540–547 (2024).

Article  CAS  PubMed  Google Scholar 

Pilkington, M. M. et al. Contrasting signatures of population growth for mitochondrial DNA and Y chromosomes among human populations in Africa. Mol. Biol. Evol. 25, 517–525 (2008).

Article  CAS  PubMed  Google Scholar 

Quintana-Murci, L. et al. Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter–gatherers and Bantu-speaking farmers. Proc. Natl Acad. Sci. USA 105, 1596–1601 (2008).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Reed, F. A. & Tishkoff, S. A. African human diversity, origins and migrations. Curr. Opin. Genet. Dev. 16, 597–605 (2006).

Article  CAS  PubMed  Google Scholar 

Choudhury, A. et al. High-depth African genomes inform human migration and health. Nature 586, 741–748 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wonkam, A. et al. Five priorities of African genomics research: the next frontier. Annu. Rev. Genomics Hum. Genet. 23, 499–521 (2022).

Article  CAS  PubMed  Google Scholar 

Wonkam, A. Sequence three million genomes across Africa. Nature 590, 209–211 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fan, S. et al. Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation. Cell 186, 923–939.e14 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sfaihi, L. et al. Ataxia-telangiectasia in the south of Tunisia: a study of 11 cases. Tunis. Med. 93, 511–515 (2015).

PubMed  Google Scholar 

Steinlein, O. K. et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11, 201–203 (1995).

Article  CAS  PubMed  Google Scholar 

Yamamah, G. et al. Prevalence of consanguineous marriages in South Sinai, Egypt. J. Biosoc. Sci. 45, 31–39 (2013).

Article  CAS  PubMed  Google Scholar 

Bocoum, A. et al. The first case of Huntington’s disease like 2 in Mali, West Africa. Tremor Other Hyperkinet Mov. 14, 15 (2024).

Article  Google Scholar 

Anderson, D. G. et al. Comparison of the Huntington’s disease like 2 and Huntington’s disease clinical phenotypes. Mov. Disord. Clin. Pract. 6, 302–311 (2019).

Article  PubMed  PubMed Central  Google Scholar 

Baine, F. K., Krause, A. & Greenberg, L. J. The frequency of Huntington disease and Huntington disease-like 2 in the South African population. Neuroepidemiology 46, 198–202 (2016).

Article  PubMed  Google Scholar 

Bamba, S. et al. Case report: novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. Front. Genet. 15, 1412442 (2024).

Article  PubMed  PubMed Central  Google Scholar 

Cissé, L. et al. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings. Front. Neurol. 15, 1455467 (2024).

Article  PubMed  PubMed Central  Google Scholar 

Aridon, P. et al. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am. J. Hum. Genet. 79, 342–350 (2006).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hirose, S. et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 53, 1749–1753 (1999).

Article  CAS  PubMed  Google Scholar 

Lehesjoki, A. E. et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc. Natl Acad. Sci. USA 88, 3696–3699 (1991).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aiyesimoju, A. B., Osuntokun, B. O., Bademosi, O. & Adeuja, A. O. Hereditary neurodegenerative disorders in Nigerian Africans. Neurology 34, 361–362 (1984).

Article  CAS  PubMed  Google Scholar 

Ben Hamida, M., El Younsi, C. & Isautier, C. Degenerative changes in cerebrospinal fluid electrophoresis recordings during spinocerebellar hereditary degenerative disorders. a study of 111 cases (author’s transl) [French]. Rev. Neurol. 136, 25–32 (1980).

PubMed  Google Scholar 

Grunitzky, E. K., Gnamey, D. R., Nonon, S. A. & Balogou, A. Huntington disease in a large family in southern Togo [French]. Ann. Med. Interne 146, 581–583 (1995).

CAS  Google Scholar 

Scrimgeour, E. M. Huntington’s disease in Tanzania. J. Med. Genet. 18, 200–203 (1981).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Triki, C. et al. Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia [French]. Rev. Neurol. (Paris) 156, 634–637 (2000).

CAS  PubMed  Google Scholar 

Silber, E., Kromberg, J., Temlett, J. A., Krause, A. & Saffer, D. Huntington’s disease confirmed by genetic testing in five African families. Mov. Disord. 13, 726–730 (1998).

Article  CAS  PubMed  Google Scholar 

Ranum, L. P. et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am. J. Hum. Genet. 55, 244–252 (1994).

CAS  PubMed  PubMed Central  Google Scholar 

Ranum, L. P. et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am. J. Hum. Genet. 57, 603–608 (1995).

CAS  PubMed  PubMed Central  Google Scholar 

Coutinho, P. et al. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. Arch. Neurol. 56, 943–949 (1999).

Article  CAS  PubMed  Google Scholar 

Klebe, S. et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 129, 1456–1462 (2006).

Article