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Valuable insights into hereditary spinocerebellar degeneration from clusters of homozygosity in Africa

European Journal of Human Genetics (2023)Cite this article

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From its Greek roots, the concept of ataxia derives from the prefix “a-” for “not or without” and the noun “taxis “ for “arrangement or order,” or “tassein” = tactics. This concept is used to describe a clinical presentation that includes altered coordination, balance, and speech. The primary underlying pathophysiology is a degeneration of nerves in the cerebellum (cerebellar degeneration). The degeneration may also involve the spinal cord (spinocerebellar degeneration). Ataxia may be acquired due to environmental exposure such as long-term alcohol abuse, intake of some medications, exposure to some toxins, autoimmune disorders, traumatic injuries of the cerebellum, and infections (including infections to Covid-19). The ataxic syndrome may result from hereditary genetic defects (Hereditary spinocerebellar degeneration, HSCD).

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Fig. 1: PubMed records for HSCD entities in the World and in Africa (accession date August 1, 2023).

References

  1. Yahia A, Hamed AAA, Mohamed IN, Elseed MA, Salih MA, El-Sadig SM, et al. Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01344-6. Online ahead of print.

  2. Jiao B, Zhou Z, Hu Z, Du J, Liao X, Luo Y, et al. Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families. Parkinsonism Relat Disord. 2020;80:65–72.

    Article  PubMed  Google Scholar 

  3. Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, et al. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020;41:487–501.

    Article  CAS  PubMed  Google Scholar 

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  1. Center for Human Genetics, Centre Hospitalier Universitaire, Liège, 4032, Belgium

    Aimé Lumaka

  2. Center for Human Genetics, University of Kinshasa, Kinshasa, Democratic Republic of Congo

    Aimé Lumaka

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  1. Aimé Lumaka
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Correspondence to Aimé Lumaka.

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Lumaka, A. Valuable insights into hereditary spinocerebellar degeneration from clusters of homozygosity in Africa. Eur J Hum Genet (2023). https://doi.org/10.1038/s41431-023-01452-3

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  • DOI: https://doi.org/10.1038/s41431-023-01452-3

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