Huntington Disease Like in Black African Population: A Clinical and Genetical Review

Huntington Disease-like (HDL) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. We review the different phenocopies of HDL in Africa from a clinical and genetic perspective through published cases. A literature review through PubMed and Google Scholar of all clinically and genically described cases of HDL until the end of December 2022 was performed and a descriptive analysis was carried out. Fifteen papers were published from 2000 to 2022 in Africa on HDL. Only HD phenocopies caused by mutation of the following genes (JPH3, ATXN2, VPS13A, VPS13D, PRNP, NBIA, ATN1, ATM) were described. The most representative phenocopies was HDL2 (JPH3) described in case series and families in South Africa. Other phenotypes and genotypes are described either as case series or isolated clinical cases. This review clarifies some aspects of the phenotype and genotype of HDL, mainly HDL2, and highlights others in Africa that require further research.