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

Fall Maouly; Diop Alassane Mamadou; Kahwagi Jamil; Gaye Ndiaga Matar; Ndiaye Moustapha; Mie Rizig

doi:doi:10.11648/j.cnn.20250904.14

Research Article |

| Peer-Reviewed

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

Fall Maouly^*

, Diop Alassane Mamadou, Kahwagi Jamil, Gaye Ndiaga Matar, Ndiaye Moustapha, Mie Rizig

Published in Clinical Neurology and Neuroscience (Volume 9, Issue 4)

Received: 16 November 2025 Accepted: 15 December 2025 Published: 29 December 2025

Views: Downloads:

Download PDF

Share This Article

Twitter
Linked In
Facebook

Abstract

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.

Published in	Clinical Neurology and Neuroscience (Volume 9, Issue 4)
DOI	10.11648/j.cnn.20250904.14
Page(s)	73-79
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2025. Published by Science Publishing Group

Keywords

Huntington Disease Like, Africa, Phenotype, Genotype

References

[1]	ABASCAL JV, ALVAREZ PB, ROSALES FM, RAMIREZ AF, KHALIL MIA, VOLPINI LJLV, NYAN O. First case with Huntington's disease in The Gambia. Journal of the Neurological Sciences 2014; 338: 238-240. https://doi.org/10.1016/j.jns.2013.12.045
[2]	AIYESIMOJU AB, OSUNTOKUN BO, BADEMOSI O, ADEUJA AO. Hereditary neurodegenerative disorders in Nigerian Africans. Neurology 1984; 34: 361-362. https://doi.org/10.1212/wnl.34.3.361
[3]	ANDREW SE, GOLDBERG YP, KREMER B, et al. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet 1994; 54: 852-863.
[4]	ASSAMI S, AZZEDINE H, NOUIOUA S, MUNDWILLER E, MAHOUI S, MAKRI S, DJEMAI M, GRID D, BRICE A, HAMADOUCHE T, STEVANIN G, TAZIR M. Pantothenate Kinase–Associated Neurodegeneration: Clinical Description of 10 Patients and Identification of New Mutations. Movement Disorders 2011: 26 (9): 1777-1779. https://doi.org/10.1002/mds.23648
[5]	BAINE FK, KAY C, KETELAAR ME, et al. Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes. Eur J Hum Genet. 2013; 21(10): 1120-1127. https://doi.org/10.1038/ejng.2014.2
[6]	BAINE F, KRAUSE A, GREENBERG L. The frequency of Huntington disease and Huntington disease-like 2 in the South African population. Neuroepidemiology. 2016; 46(3): 198-202. https://doi.org/10.1159/000444020
[7]	BAINE FK, PEERBHAI N, KRAUSE A. A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. Journal of the Neurological Sciences 2018; 390: 200-204. https://doi.org/10.1016/j.jns.2018.04.031
[8]	BARDIEN S, ABRAHAMS F, SOODYALL H, MERWE LVD, GREENBERG J, BRINK T, CARR J. A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features. Movement Disorders 2007; 22(14): 2083-2089. https://doi.org/10.1002/mds.21672
[9]	BATES G, HARPER PS, JONES L (editors). Huntington’s disease, 3rd ed. Oxford: Oxford University Press; 2002. Pp. 558. S118.
[10]	BOUHOUCHE A, REGRAGUI W, LAMGHARI H, KHALDI K, BIROUK N, LYTIM S, et al. Clinical and genetic data of Huntington disease in Moroccan patients. Afri Health Sci. 2015; 15(4): 1232-1238. https://doi.org/10.4314/ahs.v15i4.23
[11]	COULIBALY T, KARAMBE M, GUINTO CO, TRAORE M. Huntington's disease confirmed by genetic testing in three Malian families. Mov Disord 2012; 27(Suppl.1): 171.
[12]	DONALDSON I, MARSDEN CD, SCHNEIDER SA, BHATIA KB. Clinical approach to movement disorders. In Marsden's Book of Movement Disorders. Donaldson I, Marsden CD, Schneider SA, Bhatia KB. Editors. Oxford, United Kingdom: Oxford University Press; 2012: 140-141.
[13]	GREGORY A, POLSTER BJ, HAYFLICK SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2008; 46(2): 73-80. https://doi.org/10.1136/jmg.2008.061929
[14]	KABORÉ J, OUÉDRAOGO A. Huntington disease in Burkina Faso. Rev Neurol (Paris) 2000; 156(12): 1157-1158.
[15]	KRAUSE A, MITCHELL C, ESSOP F, TAGER S, TEMLETT J, STEVANIN G, et al. Junctophilin 3 (JPH3) expansion mutations caus- ing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. Am J Med Genet B Neuropsychiatr Genet. 2015; 168 (7): 573-585. https://doi.org/10.1002/ajmg.b.32332
[16]	KRAUSE A, TEMLETT J, VAN DER MEYDEN K, ROSS CA, CALLAHAN C, MARGOLIS RL. CAG/CTG repeat expansions at the HDL2 locus are a common cause of Huntington disease in black South Africans. Am J Hum Genet. 2002; 71(4): 528-528.
[17]	KREMER B, GOLDBERG P, ANDREW SE, et al. A Worldwide Study of the Huntington’s Disease Mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994; 330: 1401-1406. https://doi.org/10.1056/NEJM199405193302001
[18]	KUMAR N, LEONZINO M, HANCOCK-CERUTTI W, HORENKAMP FA, LI P, LEES JA et al. VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites. J Cell Biol. 2018; 217(10): 3625-3639. https://doi.org/10.1083/jcb.201807019
[19]	LANDOURE G, MOCHEL F, MEILLEUR K, LY M, SANGARE M, BOCOUM N, BAGAYOKO K, COULIBALY T, SARR AM, BA HO, COULIBALY S, GUINTO CO, TOURE M, TRAORE M, FISCHBECK KH. Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. J Neurol 2013; 260: 324-326.
[20]	MAGAZI DS, KRAUSE A, BONEV V, MOAGI M, IQBAL Z, DLUDLA M, VAN DER MEYDEN CH. Huntington's disease: genetic heterogeneity in black African patients. S Afr Med J 2008; 98: 200-203.
[21]	PARK JS, THORSNESS MK, POLICASTRO R et al. Yeast Vps13 promotes mitochondrial function and is localized at membrane contact sites. Mol Biol Cell 2016; 27: 2435-2449. https://doi.org/10.1091/mbc.E16-02-0112
[22]	ROSS CA, TABRIZI SJ. Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol. 2011; 10: 83-98. https://doi.org/10.1016/S1474-4422(10)70245-3
[23]	STEVANIN G, FUJIGASAKI H, LEBRE A-S, et al. Huntington’s disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain 2003; 126: 1599-1603. https://doi.org/10.1093/brain/awg155
[24]	TRIKI C, FEKI I, MEZIOU M, TURKI H, ZAHAF A, MHIRI C. Clinical, biological and genetic study of 24 patients with ataxia-telangiectasia from southern Tunisia. Rev Neurol 2000; 156: 634-637.
[25]	VELAYOS BAEZA A, DOBSON-STONE C, RAMPOLDI L, BADER B, WALKER RH, DANEK A, et al. Chorea-Acanthocytosis. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, LJH B, Stephens K, Amemiya A, editors. Gene Reviews. Seattle: Seattle (WA): University of Washington; 2002. p. 1993-2019. [updated 2019 Apr 18].
[26]	WAGSTAFF LA, JOFFE R. Ataxia-telangiectasia in a South African Bantu child. S Afr Med J 1969; 43: 662-664.

Cite This Article

Plain Text BibTeX RIS

APA Style

Maouly, F., Mamadou, D. A., Jamil, K., Matar, G. N., Moustapha, N., et al. (2025). Huntington Disease Like in Black African Population: A Clinical and Genetical Review. Clinical Neurology and Neuroscience, 9(4), 73-79. https://doi.org/10.11648/j.cnn.20250904.14

Copy | Download

ACS Style

Maouly, F.; Mamadou, D. A.; Jamil, K.; Matar, G. N.; Moustapha, N., et al. Huntington Disease Like in Black African Population: A Clinical and Genetical Review. Clin. Neurol. Neurosci. 2025, 9(4), 73-79. doi: 10.11648/j.cnn.20250904.14

Copy | Download

AMA Style

Maouly F, Mamadou DA, Jamil K, Matar GN, Moustapha N, et al. Huntington Disease Like in Black African Population: A Clinical and Genetical Review. Clin Neurol Neurosci. 2025;9(4):73-79. doi: 10.11648/j.cnn.20250904.14

Copy | Download

@article{10.11648/j.cnn.20250904.14,
  author = {Fall Maouly and Diop Alassane Mamadou and Kahwagi Jamil and Gaye Ndiaga Matar and Ndiaye Moustapha and Mie Rizig},
  title = {Huntington Disease Like in Black African Population: 
A Clinical and Genetical Review},
  journal = {Clinical Neurology and Neuroscience},
  volume = {9},
  number = {4},
  pages = {73-79},
  doi = {10.11648/j.cnn.20250904.14},
  url = {https://doi.org/10.11648/j.cnn.20250904.14},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20250904.14},
  abstract = {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.},
 year = {2025}
}

Copy | Download

TY  - JOUR
T1  - Huntington Disease Like in Black African Population: 
A Clinical and Genetical Review
AU  - Fall Maouly
AU  - Diop Alassane Mamadou
AU  - Kahwagi Jamil
AU  - Gaye Ndiaga Matar
AU  - Ndiaye Moustapha
AU  - Mie Rizig
Y1  - 2025/12/29
PY  - 2025
N1  - https://doi.org/10.11648/j.cnn.20250904.14
DO  - 10.11648/j.cnn.20250904.14
T2  - Clinical Neurology and Neuroscience
JF  - Clinical Neurology and Neuroscience
JO  - Clinical Neurology and Neuroscience
SP  - 73
EP  - 79
PB  - Science Publishing Group
SN  - 2578-8930
UR  - https://doi.org/10.11648/j.cnn.20250904.14
AB  - 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.
VL  - 9
IS  - 4
ER  -

Copy | Download

Author Information

Fall Maouly

Department of Neurology, Pikine National Hospital, Dakar, Senegal

Contact Email

http://orcid.org/0000-0002-2473-0580
Diop Alassane Mamadou

Department of Neurology, Pikine National Hospital, Dakar, Senegal

Contact Email
Kahwagi Jamil

Department of Neurology, Pikine National Hospital, Dakar, Senegal

Contact Email
Gaye Ndiaga Matar

Department of Neurology, Fann National Teaching Hospital, Dakar, Senegal

Contact Email
Ndiaye Moustapha

Department of Neurology, Fann National Teaching Hospital, Dakar, Senegal

Contact Email
Mie Rizig

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK

Contact Email

Download PDF

Submit an Article

Sections

Plain Text BibTeX RIS

APA Style

Maouly, F., Mamadou, D. A., Jamil, K., Matar, G. N., Moustapha, N., et al. (2025). Huntington Disease Like in Black African Population: A Clinical and Genetical Review. Clinical Neurology and Neuroscience, 9(4), 73-79. https://doi.org/10.11648/j.cnn.20250904.14

Copy | Download

ACS Style

Maouly, F.; Mamadou, D. A.; Jamil, K.; Matar, G. N.; Moustapha, N., et al. Huntington Disease Like in Black African Population: A Clinical and Genetical Review. Clin. Neurol. Neurosci. 2025, 9(4), 73-79. doi: 10.11648/j.cnn.20250904.14

Copy | Download

AMA Style

Maouly F, Mamadou DA, Jamil K, Matar GN, Moustapha N, et al. Huntington Disease Like in Black African Population: A Clinical and Genetical Review. Clin Neurol Neurosci. 2025;9(4):73-79. doi: 10.11648/j.cnn.20250904.14

Copy | Download

@article{10.11648/j.cnn.20250904.14,
  author = {Fall Maouly and Diop Alassane Mamadou and Kahwagi Jamil and Gaye Ndiaga Matar and Ndiaye Moustapha and Mie Rizig},
  title = {Huntington Disease Like in Black African Population: 
A Clinical and Genetical Review},
  journal = {Clinical Neurology and Neuroscience},
  volume = {9},
  number = {4},
  pages = {73-79},
  doi = {10.11648/j.cnn.20250904.14},
  url = {https://doi.org/10.11648/j.cnn.20250904.14},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20250904.14},
  abstract = {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.},
 year = {2025}
}

Copy | Download

TY  - JOUR
T1  - Huntington Disease Like in Black African Population: 
A Clinical and Genetical Review
AU  - Fall Maouly
AU  - Diop Alassane Mamadou
AU  - Kahwagi Jamil
AU  - Gaye Ndiaga Matar
AU  - Ndiaye Moustapha
AU  - Mie Rizig
Y1  - 2025/12/29
PY  - 2025
N1  - https://doi.org/10.11648/j.cnn.20250904.14
DO  - 10.11648/j.cnn.20250904.14
T2  - Clinical Neurology and Neuroscience
JF  - Clinical Neurology and Neuroscience
JO  - Clinical Neurology and Neuroscience
SP  - 73
EP  - 79
PB  - Science Publishing Group
SN  - 2578-8930
UR  - https://doi.org/10.11648/j.cnn.20250904.14
AB  - 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.
VL  - 9
IS  - 4
ER  -

Copy | Download