Skip to main content Accessibility help
×
Hostname: page-component-586b7cd67f-vdxz6 Total loading time: 0 Render date: 2024-11-25T18:35:31.710Z Has data issue: false hasContentIssue false

13 - Neurogenetic Disorders in Africa: Hereditary Spastic Paraplegia

A Case Study

Published online by Cambridge University Press:  02 December 2019

Muntaser E. Ibrahim
Affiliation:
University of Khartoum
Charles N. Rotimi
Affiliation:
National Human Genome Research Institute/NIH
Get access

Summary

Many regions of Africa, the continent where the sun is always shining, are gradually becoming overwhelmed by genetic disorders, especially where consanguineous marriages are strongly favored over many generations. In this chapter we navigate through the genetic and phenotypic features observed in some African populations, using hereditary spastic paraplegia (HSP) as a model of neurogenetic disorders. Published data and unpublished studies on HSP are starting to disclose criteria that distinguish these populations due to an interesting mixture of environmental factors, traditions, and certain characteristics of African genomes.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2019

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Ben Hamida, M, Chaabouni, H, Madani, S, et al. (1986). Genetic study of spinocerebellar hereditary degenerations in Tunisia: role of consanguinity in their occurrence. J Genet Hum 34: 267274.Google Scholar
Bittles, AH and Black, ML (2010). Consanguinity, human evolution, and complex diseases. PNAS 107: 17791786.CrossRefGoogle ScholarPubMed
Boukhris, A, Stevanin, G, Feki, I, et al. (2009). Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. Clin Genet 75: 527536.Google Scholar
Coutinho, P, Barros, J, Zemmouri, R, et al. (1999). Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. Arch Neurol 56: 943949.Google Scholar
Dobon, B, Hassan, HY, Laayouni, H, et al. (2015). The genetics of East African populations: a Nilo-Saharan component in the African genetic landscape. Scientific Reports 5: 9996.Google Scholar
Elhassan, N, Gebremeskel, EI, Elnour, MA, et al. (2014). The episode of genetic drift defining the migration of humans out of Africa is derived from a large East African population size. PLoS One 9: e97674.Google Scholar
Elsayed, LEO, Drouet, V, Usenko, T, et al. (2016a). A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson’s disease. Ann Neurol 79: 335337.Google Scholar
Elsayed, LEO, Mohammed, IN, Hamed, AAA, et al. (2016b). Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. Eur J Hum Genet 25: 100110.Google Scholar
Hanein, S, Martin, E, Boukhris, A, et al. (2008). Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 82: 9921002.Google Scholar
Ibrahim, M and Musa, M (2016). Effective size and effectiveness: next generation sequencing and the practice of genomics in Africa. Next Generat Sequenc Applic. DOI: 10.4172/2469-9853.S1-008.Google Scholar
Klebe, S, Stevanin, G, and Depienne, C (2015). Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol (Paris) 171: 505530.Google Scholar
Martin, E, Schule, R, Smets, K, et al. (2013). Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 92: 238244.Google Scholar
Novarino, G, Fenstermaker, AG, Zaki, MS, et al. (2014). Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343: 506511.CrossRefGoogle ScholarPubMed
Romeo, G and Bittles, AH (2014). Consanguinity in the contemporary world. Hum Hered 77: 69.CrossRefGoogle ScholarPubMed
Ruano, L, Melo, C, Silva, MC, and Coutinho, P (2014). The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42: 174183.CrossRefGoogle ScholarPubMed
Salih, MA (2010). Genetic disorders in Sudan. In Teebi, AS, ed., Genetic Disorders Among Arab Populations. Springer, pp. 575612.CrossRefGoogle Scholar
Stevanin, G, Santorelli, FM, Azzedine, H, et al. (2007). Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 39: 366372.CrossRefGoogle Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×