Objective: To characterise the Huntingtons disease phenotype in Sub-saharan Africans.

Background: Huntington’s disease (HD) is a debilitating neurodegenerative illness that leads to diminished cognitive function, psychological disturbance and movement disorders. A polyglutamine extension mutation on exon 1 of Chromosome 4 is postulated to be the cause of Huntington’s disease. This neurodegenerative illness is reported to occur in 10 cases per 100,000 populations among people of European ancestry. However, the true global Huntington’s prevalence is unknown due to a lack of comprehensive studies in African and Asian populations. Less than 10 studies focusing on two Southern African countries have been used to estimate the prevalence of HDon the African continent.

Method: Patient data from the last five years was assessed by analysing clinical observations from the last five years. Patient Huntington’s disease pedigree maps were drawn according to self reported family histories.

Results: Here we extend Huntington’s diseases observations to populations in East Africa and report for the first time clinical cases outside of Southern Africa. Our clinical data shows that Huntington’s disease is present in Africans of diverse ancestries such as Nilotes and Bantu.

Conclusion: Our observations also emphasize a need to reassess Huntington’s disease prevalence on the African continent. Taken together, these findings also pave the way for a deeper interrogation of the genetic HD locus among Africans of diverse ancestries.

References: [1] T. Pringsheim et al. Movement Disorders Vol. 27 2012 [2] A.D.Krause et al., American Journal of Medical Genetics, Vol.168, 2015. [3] N. Peerbhai et al., Journal of Neurological Science Vol. 390, 2018.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/huntingtons-disease-a-case-review-of-sub-saharan-africans-with-diverse-origins/